ENSDARG00000012982

Ensembl ID:
ENSDARG00000012982
Human Orthologues:
AL929601.1, NF1, NF1P4, NF1P5
Human Descriptions:
neurofibromin 1 pseudogene 4 [Source:HGNC Symbol;Acc:7769]
neurofibromin 1 pseudogene 5 [Source:HGNC Symbol;Acc:7770]
neurofibromin 1 [Source:HGNC Symbol;Acc:7765]
Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:C9IYV8]
Mouse Orthologue:
Nf1
Mouse Description:
neurofibromatosis 1 Gene [Source:MGI Symbol;Acc:MGI:97306]

Alleles

There are 5 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa22673 Nonsense Available for shipment Available now
sa848 Nonsense Available for shipment Available now
sa10931 Nonsense Available for shipment Available now
sa22672 Nonsense Mutation detected in F1 DNA During 2014
sa22671 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa22673
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080328 Nonsense 147 2805 4 58
Genomic Location:
Chromosome 15 (position 30264972)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCCACTCAGCTGCGCAGCTCCGCCTCTGCTGTGCTTTTCTCTCTCAGCTG[C/A]AACAACTTTAATGCCGTCTTCAGTCGTATCTCCACCAGGTACCTCTCTAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa848
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
ENSDART00000080328 Nonsense 316 2805 9 58
Genomic Location:
Chromosome 15 (position 30260710)
KASP Assay ID:
554-0751.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CATTTGTAGACAGTTTACGAAAGGCTCTTGGCCAACACAGCGGCAGCAAA[C/T]AATTGACGGAAAGTGCAGCTGTTGCATGCGTCAAACTCTGCAAAGCCTGC
Associated Phenotype:

Normal

Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037
whole organism
ZFA:0001094
quality
PATO:0000001
normal
PATO:0000461

Mutation Details

Allele Name:
sa10931
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080328 Nonsense 479 2805 13 58
Genomic Location:
Chromosome 15 (position 30258273)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATTTTATTACTTGCAGAGTTTGACATTCAAAGAGAAAATGACAACAAGTT[T/A]GAAGTTCAAGGAAAAGTCCACAGATCTTGATTCGCGTTCTTTGCTGCTGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22672
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 > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080328 Nonsense 700 2805 20 58
Genomic Location:
Chromosome 15 (position 30252855)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGAGGTGTGTCTGTACACGTTCCTGTGGAGTCCTGATGCAGAGGCTGTTT[T/A]GGTGGCCATGTCCTGTTTCAGGCATCTCTGTGAGGAGGCCGATATTCGCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22671
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
ENSDART00000080328 Nonsense 2482 2805 51 58
Genomic Location:
Chromosome 15 (position 30177928)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTCCGAAAGTGTCAGAGCGCAGTCTTGCACCTCCGTACTCCACAATAGGG[C/T]AGACCAGCCTTCGTCCACGCAAATCCATGAGTGTAGACATGGGCCAGCCG
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/cezqu8c4