ZMP
LOC561497
Ensembl ID:
Human Orthologue:
TMC5
Human Description:
transmembrane channel-like 5 [Source:HGNC Symbol;Acc:22999]
Mouse Orthologue:
Tmc5
Mouse Description:
transmembrane channel-like gene family 5 Gene [Source:MGI Symbol;Acc:MGI:1921674]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa6891 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa506 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa6891
Status:
Mutation detected in F1 DNA
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000114552 | Essential Splice Site | 89 | 685 | 4 | 18 |
Genomic Location (Zv9):
Chromosome 3 (position 26280415)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 26606557 |
| GRCz11 | 3 | 26737428 |
KASP Assay ID:
554-5358.1 (used for ordering genotyping assays)
KASP Sequence:
CACATTCATCATAKTAYTATATSATTATTCTGAAAACAAAAYACACCTTC[A/G]GTCTTTCCGMAGGTTTCGTGCCAGCTKGACATCCGCCAGGCAGCGTTTGG
Long Flanking Sequence:
TTGCTTTGTTAAACATCATTTGGGAAAAATTCACAGGAGGGATAATAATTTACATAAACTGTATATTTATTTATTTAAAAATAACACACAAGTGTATCAAAAAAAACAAAAAAAAAAAACATATACAATCCTTACTTTTGTCCCCAGATACGTCTGAACTGGTATCAGATCTGTCAGACCTGTCAGCCGGAGCCAGATTTCAAGCGATACGGTCATTACCTATGTCATATAACGAGAGGAAAGCAATCAGGTTAATATCTTTTGCATTATCATACATTTATGCAATATTTCCAACAATGCCTGATCTAAACTTGAACTTGCAATCACCTCAACAGGAACAGAGTGAACAACATCAAACTCTCGAAAACCATCCTCCCCACAGACTGTCGTCAACAGGTGTCTCTAGTAAGAAGATGACACACATTTTAAATCTAGATGTGTTTTTTATTTCACATTCATCATAGTACTATATCATTATTCTGAAAACAAAACACACCTTC[A/G]GTCTTTCCGCAGGTTTCGTGCCAGCTTGACATCCGCCAGGCAGCGTTTGGTTGTATGGCAAGATACTCTGAAGGAGATCGGGGGCAGATTTGGCACTTCTGTCCTGTCCTACTTCTTGTTTCTCAAATGGCTGCTGAAGTTCAACGTCTTCTCCTTCGTCATCAACTTCTGCTTCATCACAATCCCACAAATTGTCCATGCGCCCAATATCAGCCATGTCACAGGCTTCAGAGGACTTGAGCTGCTCACTGGCGTGGTGAGTTATTATTCAATTGACTCTAAATGTTACATTCGTTCAACACAACATTCTATCTGCTAGCTAAAATACAATGTAAAAAAATGCTGGATTCCACACAATCGATTTGTGTTGGGACAACATGAAGGAATTGAGTTAGCTTTACATTTTTACAAATTTAAGTGGATTGAACATAAAACAATTAAGTTGTCCCCCTAAAAAACCCTCAAGACATGTGTTGTTTTGGCTCATTTCAAATGAGTAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa506
Status:
Available for shipment
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:
Mutation:
G > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000114552 | Nonsense | 405 | 685 | 10 | 18 |
Genomic Location (Zv9):
Chromosome 3 (position 26274788)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 26612184 |
| GRCz11 | 3 | 26743055 |
KASP Assay ID:
554-0225.1 (used for ordering genotyping assays)
KASP Sequence:
ATTATGCCTCTTTGTTTGTTTGTAATCTTTTTTCTTTTTATTATAGTGTT[G/A]GGAGTCCTTTGTAGGACAGAGTGTATATCGACTTCTGATCATTGACTTCA
Long Flanking Sequence:
TTCATGCAATACATTAAGTAGAAATACATTGCATTCAGCCTGCGCTTATATTTCCCTACAGACCTTTAGTTTCAACCAAGATCCAAATGATTTAGTGTCTGAGGCGTCTACTCTGCTTCTGCCCGTGGTTGTGTCGCTTATCAACCTGATTGTGCCTCTCCTTTACTCCCTCATTGGCAAAATGGAGACTTACTCCAACCCACGGGCTAAGATCTACATCAGCATTGCAAGGTGCGATCAGAGTTTTGTTATAATTACCAGAAGCATCAGATTTCCACTGTTAACTATGTAACTGTTAACACTTCATTATTCGGTTTGTTCCTAGAAATATTATTCTGAAGATGTCCCTTCTTGGAATTCTTTGCTTTTACTGGCTCAATTTTGTTCCTGACAAAATCCCAGTAGGTGCACCAATAATTAAATGTTTACATGGGTTACCAATAAAGCACTATTATGCCTCTTTGTTTGTTTGTAATCTTTTTTCTTTTTATTATAGTGTT[G/A]GGAGTCCTTTGTAGGACAGAGTGTATATCGACTTCTGATCATTGACTTCATATTCTGTCTGCTTGGCATTTTCTTTGGAGAATTCCTACGCAAGTAAGTCAAAAACTGGAACTCAAATACATCCTGACTATTGAACTAGATTTTTGAAAAAAAAAAAAAAAAAGTAATAAGTAAGGACCTTAAAGGGTGTCAGTGGGGTCTTAAAAAATTGTTAAAAAGTCTTAAACTATATTTTACAAGGCATTAAATTTGATGTCATTTTTAATTATACAATGTACACACCCCAGCCACTTATTAGGTACACCACTCCAATGCAAATTTTTAATCAGCCAATTACATGGCAGCAACTCAATGTAGACTTGGTCAAGGCGATTTGCTGCAGTTCAAACAAAGCGTCAGAATGGGGAAGAAAGGTGATTTAAGTTACTTTGAATGTGGCATGGTTGTTGGTGCCAGACGGGCTGATCTACTGAGATTTTCACACACGACCATCTCTAGGA
Associated Phenotype:
Normal
| Stage | Entity | Quality | Tag |
|---|---|---|---|
| Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |