LOC100334768

Ensembl ID:
ENSDARG00000011333
Human Orthologue:
ARHGAP33
Human Description:
Rho GTPase activating protein 33 [Source:HGNC Symbol;Acc:23085]
Mouse Orthologue:
Arhgap33
Mouse Description:
Rho GTPase activating protein 33 Gene [Source:MGI Symbol;Acc:MGI:2673998]

Alleles

There are 8 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa9276 Nonsense Mutation detected in F1 DNA During 2014
sa19151 Essential Splice Site Mutation detected in F1 DNA During 2014
sa4682 Essential Splice Site Mutation detected in F1 DNA During 2014
sa17463 Essential Splice Site Available for shipment Available now
sa12075 Nonsense Available for shipment Available now
sa19150 Nonsense Mutation detected in F1 DNA During 2014
sa19149 Nonsense Mutation detected in F1 DNA During 2014
sa4681 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa9276
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000022270 Nonsense 186 1964 6 24
Genomic Location:
Chromosome 16 (position 47654752)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGACCTCGGGCAGTGCCAAAGATCTGGTTTTCCTCGTGCAGGTGTCCTGC[C/T]AGGTGAGTGGGCGCACATTCACCAGACGCCGCTAATTATAAACAMCCCCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19151
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000022270 Essential Splice Site 357 1964 11 24
Genomic Location:
Chromosome 16 (position 47649637)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AATCAATGAGAAGATGCCGCAGTCGGTCAGCGCTCCTGTCAGTAAGCAAG[G/A]TATAACACACAGTCTTCACTGTATAGGGATCAAGAGTGGACTGGCAGTAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa4682
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000022270 Essential Splice Site 512 1964 15 24
ENSDART00000022270 Essential Splice Site 512 1964 15 24
Genomic Location:
Chromosome 16 (position 47636784)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGAGCTGCCCAATCCATTGCTCACATACCAGCTTTACGACAAGTTTGCTG[T/C]AAGTCATTCTGTCTCTAGCAGATATAAGACCAAGGGATGATGTACATTTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17463
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000022270 Essential Splice Site 512 1964 15 24
ENSDART00000022270 Essential Splice Site 512 1964 15 24
Genomic Location:
Chromosome 16 (position 47636784)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGAGCTGCCCAATCCATTGCTCACATACCAGCTTTACGACAAGTTTGCTG[T/C]AAGTCATTCTGTCTCTAGCAGATATAAGACCARGGGATGATGTACATTTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12075
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000022270 Nonsense 626 1964 19 24
ENSDART00000022270 Nonsense 626 1964 19 24
Genomic Location:
Chromosome 16 (position 47628728)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGAYCWGAATCTAAATCTTTTTCTTGCATTYGTTTTCTRACTTGACAGCA[C/T]GACAGTCCCTGACCAGGCCCAAGTCGTTTGTATCCACCAGGCTCCTGTCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19150
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000022270 Nonsense 626 1964 19 24
ENSDART00000022270 Nonsense 626 1964 19 24
Genomic Location:
Chromosome 16 (position 47628728)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGATCTGAATCTAAATCTTTTTCTTGCATTTGTTTTCTGACTTGACAGCA[C/T]GACAGTCCCTGACCAGGCCCAAGTCGTTTGTATCCACCAGGCTCCTGTCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19149
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000022270 Nonsense 692 1964 20 24
Genomic Location:
Chromosome 16 (position 47628336)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATTAGAAGGAAAAGAGGGATGAAGGTGCGGAAGTCAGCGGGTGGAAGCTG[G/A]AAGACATTTTTTGCCATTGGGAAACCTGGGGCTGTAGGTCGACGCAAACC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa4681
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000022270 Nonsense 830 1964 22 24
Genomic Location:
Chromosome 16 (position 47626199)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGAGGAGGGTGTGTACATGCTGCCTGATTTCTCCCAGGAACCACCCTCTT[C/A]ATGGATAACGGAGGATGTCATTGACTTTAGCCCMACCTTYCTGGAAGATG
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/p5w5vrj5