Busch Lab

ZMP

si:dkey-103j14.2

Ensembl ID:
ENSDARG00000079230
ZFIN ID:
ZDB-GENE-090313-168
Description:
Novel protein similar to vertebrate sorbin and SH3 domain containing family [Source:UniProtKB/TrEMBL
Human Orthologue:
SORBS1
Human Description:
sorbin and SH3 domain containing 1 [Source:HGNC Symbol;Acc:14565]
Mouse Orthologue:
Sorbs1
Mouse Description:
sorbin and SH3 domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:700014]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa17635 Nonsense Available for shipment Available now
sa11347 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa17635
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
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Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000004908 Nonsense 392 580 19 25
ENSDART00000043870 Nonsense 313 501 12 18
ENSDART00000135678 None None 136 None 6
ENSDART00000137040 Nonsense 550 659 19 21
ENSDART00000138732 None None 151 None 5

The following transcripts of ENSDARG00000079230 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 13 (position 23435350)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 23081010
GRCz11 13 23211460
KASP Assay ID:
2260-6361.1 (used for ordering genotyping assays)
KASP Sequence:
TGGTTTGAAGGAGAGCAWCATGGGAGAGTTGGGATTTTTCCACGKAGTTA[T/A]GTTGAGGTACTTTATATCYTTAACTAAYATGTTTTGTATGCTTTCAGATT
Long Flanking Sequence:
ATCAACAGTTCATTACTAATGACCGTTTTGGCGACCTGCTGGTTATTAATGAGAAGGAGAAGAGAAAAACCATAGAGGTGATGAATGTTCTCTCTTGTTATGCTTCAAATGCTCATGCTGGATGATGACAGTCTTTATATACGGCACAGACAGTTGCTCTGCAAAACAGATGCAGTGCTACAGAAATGATGCTAATAGCCTCTTTTGGTCTACAGAGGACTCCTGCTCTGGCACGATTTGACTTCAGAGCAGAAAGTTTAAAGTAAGCATGTTTCTCAATTCAGATCTGAGAATGCTAATAAGATCCTCTTGCATCTTTGTTATTGTAACAGCAAATCAAATTTGAAATACCACACTACTGATTGAATTACATTTTGCTGCTCTTTTATTAGGGAACTTCCATTTCAGAAGGGAGATATAGTATACATCTATCGGCAGGTCGATCAGAACTGGTTTGAAGGAGAGCATCATGGGAGAGTTGGGATTTTTCCACGGAGTTA[T/A]GTTGAGGTACTTTATATCCTTAACTAATATGTTTTGTATGCTTTCAGATTTGCAGTACCCTTATGTAAAGCAATACTTTTATAATAATAGTATAATATAAATTAAAAATTATATATATTAATAGTCAAATGCTTTACTACAAATATTTTTTGTAGTTAACTACCATACAAATTAAGAAAGTACAGGGTTAGGTTTTACAACACTAACCATAGTTTAACCATAAGTTAATAAGGCTGTGTGTCATACAAATTGTGATCAATACACCAAAAAATTGTCACTACACTTTTAATATAATATTGTATTACTATTTTTAATCATAGTCAATATACTATGTTATTTTATTTCTTCAGCTGGTGCCCCCAACAGAAAAAGCTCAGCCCAAAAAGTGTGCTCCGGTCCAGGTGTTGGAATATGGAGAGGCTCTTGCTCGTTTCAATTTCACCGGCGACACTGCTGTTGAAATGTCTTTTAGAAAGGTATTAAACTTTTTCAACAATTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11347
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000004908 Nonsense 556 580 24 25
ENSDART00000043870 Nonsense 477 501 17 18
ENSDART00000135678 None None 136 None 6
ENSDART00000137040 None None 659 None 21
ENSDART00000138732 Nonsense 127 151 4 5

The following transcripts of ENSDARG00000079230 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 13 (position 23444542)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 23090202
GRCz11 13 23220652
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTGCAGGAAGGAGACCTGGTCAAYGTCATGGAGAAATGTGATGATGGCTG[G/A]TTTGTGGGTATGTGTCATTTATTATTATATTGATTCTCCATGAAAAGTCA
Long Flanking Sequence:
TGGAGCTAAATAGTGCAGTAAGTTTTTTTTTTTTTTTTTTTTTTTTACCCAGACATTTAAAAAGAACTCATTTTAGTGCAGTTATTACAATACAGTGAAATCGTGATATTTTTATCCAAAGTTATACTCTTGGTATCTTATACCAGCCTATGCCTATTCATTAGCTACACATGAAATATTTTTTCAGTGTATCTATGCAGTCAGATTTGTTTGTGATCAAACTGGAAAGCCAACCTACAGTGCAGTGCTTTAAATTTAAGCTAATCAACTTTTAGTGTAAAATGAACTGAAAGACTAAATATTCTTAACAGTTTTACATTTAGTTAGTGCAGTTTTATTTGTGCAGTAGATTCCCCCAGGCTCCAATTCCATGTCTGATATTGTGCTGTTTTCTGCTGTAGATTTCAGGCTCTGTACAATTACGTGCCTCAGAATGATGATGAGCTGGAGCTGCAGGAAGGAGACCTGGTCAACGTCATGGAGAAATGTGATGATGGCTG[G/A]TTTGTGGGTATGTGTCATTTATTATTATATTGATTCTCCATGAAAAGTCATCTCTCAAAACTACAACACTCCTACAGTAAATCAATTCTCGACCACTGCTATTGAGTTTTGTTTTACTGGAGATGGGTTATTGTTGATAACTAAAACTGAAGCAAAATCGTAAAACTAAAACCACTTTCATTTCTTGAATAAACATTAACAAAAAAAAAAGAAAAAAAAAGAAAGGAAAATAAAAAGTAAATATATAGATATTGTTTTAGCTTCTTGCCGCGTCACATGCTTGCACTGTAATATTACTACATAGTGCTAATTCATAATCATGTTAACAACATGCTAATTCATACTAAAATCATTCTAACAGCATGCTAATTCATACCAGAAACTGCCAACCTGATTTCACCTAGTAGAACATGCTCCGGGATTAAGATCTATGTTCATCCTGGAACAACATTCCAATTAACCAATCAGAGTTAAAGGATACATTTACAGTTTGTGTTAAG
Associated Phenotype:
Not determined