ZMP
sh3gl1b
Ensembl ID:
ZFIN ID:
Description:
endophilin-A2 [Source:RefSeq peptide;Acc:NP_958905]
Human Orthologue:
SH3GL1
Human Description:
SH3-domain GRB2-like 1 [Source:HGNC Symbol;Acc:10830]
Mouse Orthologue:
Sh3gl1
Mouse Description:
SH3-domain GRB2-like 1 Gene [Source:MGI Symbol;Acc:MGI:700010]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa2439 | Essential Splice Site | F2 line generated | Not yet available |
Mutation Details
Allele Name:
sa2439
Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000100491 | Essential Splice Site | 288 | 351 | 8 | 9 |
Genomic Location (Zv9):
Chromosome 8 (position 19372539)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 18817177 |
| GRCz11 | 8 | 18847594 |
KASP Assay ID:
554-3002.1 (used for ordering genotyping assays)
KASP Sequence:
TCAAACGGTGGCTACACCCCATCATCTGCTCCACCGATGCGCAATGCAGG[T/C]AAGAGCAGTCAYAAAATACANNGTTTCCTATTGTGCTGTCAGTATKAGGA
Long Flanking Sequence:
TGAACTGAGTGAGTGTGTCTGAGCCTCGGACATTATCAGGAAGGCTATTCCAGAGTTCAGCAGCCATAAATGTGAAGGCTCGACCTTCTTTAGTAGATTTTGCTATTCTAGATACTACCAAAATCCCTGAGCTTTGAGATCTTATAGAGCAGGTTGGGTTGTAGCGAGACAGAAGGTTGGTTAGATAAACAGGAGCTAGATTATTTAAAGCTTTATAGGGAAGAAGCAATAATTAACAGGCAGCCAATGTAAGGAGGATAAAATTGGGGTGATATGATAATTTTCTAGACCTGGTAAGAACTCTGGAAGCTGCATTTTGCACCAACTGAAGTTTATTGATAAATGTTTCCTGTTTGACTATCCAGGATGAAAGATGCACAGACACGTCCTCGTAAAGAGTACATTCCCAAACCCAAGCCTGTTATCGACTTTGGAGAAACCAACGAACAGTCAAACGGTGGCTACACCCCATCATCTGCTCCACCGATGCGCAATGCAGG[T/C]AAGAGCAGTCATAAAATACACAGTTTCCTATTGTGCTGTCAGTATGAGGATAAATGATCTTCATTACATCGAGGAAGTGCCTCGGACTTTAGACTGGTGTAAGAAAGGCACATTGTGCTCTGTGTCTACGGCCCGGTGGCAGGGTGTGATGAGACCAACTATGTGTGGGTCGGGATAGACAGGCCAAATGGACAGCTGTCAGCTGCTCTCTTCGTCAGCCAGTGACCCTGTTCTGTGTTCTCTTCCCATTACGTCATCAGAGTCATACCACCAGTTTGGCAGAATAACCACAAGGAAACCCAGATTGCGTGAGTCAGAAAGTCAAGAGTGTGTTCCGTATGTGTTTGCATGGGAAAATGTGTGTGTTTGTTTGCTTGGGTTGTGGAAAAAAGATAACGAGAAGGTGCATAAAAATACAGGAAGTAGGCATGTACATAACTGCTTATTTCAGGGTTCTCACGCTTCTTGAAAGTTCTTGAACTTCAGGCATATGGATTAAA
Associated Phenotype:
Not determined