LOC100332589

Ensembl ID:
ENSDARG00000074705
Mouse Orthologue:
Mprip
Mouse Description:
myosin phosphatase Rho interacting protein Gene [Source:MGI Symbol;Acc:MGI:1349438]

Alleles

There are 8 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa14261 Essential Splice Site Available for shipment Available now
sa17524 Nonsense Available for shipment Available now
sa11649 Nonsense Available for shipment Available now
sa5088 Nonsense Mutation detected in F1 DNA During 2014
sa24557 Essential Splice Site Mutation detected in F1 DNA During 2014
sa24558 Nonsense Mutation detected in F1 DNA During 2014
sa4289 Nonsense Mutation detected in F1 DNA During 2014
sa12641 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa14261
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110538 Essential Splice Site 456 2467 7 24
Genomic Location:
Chromosome 24 (position 40902559)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGGAGCCCTGGCAGAGAGGAGGTGGAGCGGCTGTTCGGATGCCAGCGAAG[G/A]TGATTAGCATTWACACATAAAGGCTCTGTTTCAAATTTAAGTGAGGTGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17524
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
ENSDART00000110538 Nonsense 1084 2467 16 24
Genomic Location:
Chromosome 24 (position 40937002)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAGTGGAGGCCAGTTTGCTWGAGAAGAATCARGAGCTGAGGCAGCTGGAG[C/T]AGMAGCAAGCTTTACAAAGGGACCAGCACAGAGAGATGCAGAGGTTRCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11649
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
ENSDART00000110538 Nonsense 1430 2467 16 24
Genomic Location:
Chromosome 24 (position 40938042)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTAGTAAAGCGACAGAGGATTCGCTTWTCCACTATCCAGTGCCAAACCTA[C/A]CACCGGTCCCAGGGAGCAGACAAGTTTCAGAMAGAAAACACATCTTTGGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5088
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
ENSDART00000110538 Nonsense 1450 2467 16 24
Genomic Location:
Chromosome 24 (position 40938100)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCCAGGGAGCAGACAAGTTTCAGACAGAAAACACATCTTTGGATCTTACA[C/T]AAGATCTGAGTCTAGACCACATGCATGACCTGAGCCTGACTCAAGATATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24557
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 > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110538 Essential Splice Site 2160 2467 16 24
Genomic Location:
Chromosome 24 (position 40940233)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATCTGACCAGCCTGAGGGAAAAGTACCAGCGAGACTTGGACAGTCTCAAG[G/T]TTTTACTTTTGATTTTTCAGATTTAGCGTCACACCCATTTACCTCCATTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24558
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
ENSDART00000110538 Nonsense 2272 2467 19 24
Genomic Location:
Chromosome 24 (position 40945455)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGAGGTTTTGTCTGAGCAGTATTCTCAGAAGTGTCTGGAAAACGCACATT[T/A]GGCTCAAGCGCTGGAAGCTGAGAGACAGGCGCTGGGACAGTGTCAGCGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa4289
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
ENSDART00000110538 Nonsense 2286 2467 19 24
Genomic Location:
Chromosome 24 (position 40945498)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GCACATTTGGCTCAAGCGCTGGAAGCTGAGAGACAGGCGCTGGGACAGTG[T/A]CAGCGAGAGAACCAGAAACTGCATWTACACAACCAGGTCATCCAGAASAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12641
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
ENSDART00000110538 Nonsense 2338 2467 21 24
Genomic Location:
Chromosome 24 (position 40948004)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
WCTTTGACTCRTTGKATGGAAACGCTGSTTTATTYACACAGGTTTTGCTA[C/T]GAGTGAAGGAGTCCGAGATCCAGTACCTCAAACAAGAAATAAACTCTCTG
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/9f29idws