ZMP
col12a1
Ensembl ID:
ZFIN ID:
Description:
Collagen XII alpha-1 chain [Source:UniProtKB/TrEMBL;Acc:B5DC62]
Human Orthologue:
COL12A1
Human Description:
collagen, type XII, alpha 1 [Source:HGNC Symbol;Acc:2188]
Mouse Orthologue:
Col12a1
Mouse Description:
collagen, type XII, alpha 1 Gene [Source:MGI Symbol;Acc:MGI:88448]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa12155 | Essential Splice Site | Available for shipment | Available now |
| sa850 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa12155
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000113323 | Essential Splice Site | 133 | 355 | 3 | 8 |
Genomic Location (Zv9):
Chromosome 17 (position 50368877)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 49754802 |
| GRCz11 | 17 | 49854707 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTACCGCATTGGCTACGCAYCCACCACWGGAGATCCCATTGARGAATTTG[T/C]AAGTCGTTTTGYATTTTATAYGAGTGTTTATTGCAGGACGATCACRTAGT
Long Flanking Sequence:
TTGTATTTAACAGAATAAAAAAAACCATGAACGTTTGAAACAATCAGAGGCTGAATACATAAGAGAATTTTAATTTTTGGGTGGACTATGCCTTTAAGCTAGCACTGAGGAAAATAAGTATTCAGTTGAATACAGGTTTTAATAGTACGATGACAAAGAACTGTTCTATTGTATAAATTAATAAATAAATAACTCCAGAATTAGTACACAGTACAGAATTAAATATATCCAGCAAAGTTTGGTATGCTGGTTAATTCTGTCAGTAGGAAGTCATAAACACAAATGAGCTCATTTCTTGAGAGCGGCGTCCTCAGCAGCAGGACATTCAGAGTGTGTTTCTGTTCTTCTGGCTGCAGTGCCCCGCAGTGGCCCCAGGAACCTGCGGGTTTATGATCCCACCACCAGCACGCTGTCGGTGGGCTGGGAACATGCAGAAGGGCCTGTGATTCAGTACCGCATTGGCTACGCACCCACCACTGGAGATCCCATTGAAGAATTTG[T/C]AAGTCGTTTTGTATTTTATATGAGTGTTTATTGCAGGACGATCACGTAGTGATCACGTAGAACTGTATGTTACCATCAGGTATTTACAATCCTGATTTTGTAAGTCTGGTGGAGGTTATTTGATTGGATGGATGCTTGAGAGATGATCTTACCCTGCTGTTTTTTGGGGGTTTTCGCATAGACAACTGTCCCAGGCAACCGTAACTCGGTCATCCTGCAAAACCTGCAGCCAGACACGCCGTACAACATCAACGTAGAAGCCATTTATCAAGATGGCCCTGGAGGACGACTCAGTGGAGATGGAAAAACATGTAAGGATTGTTACACAATCACACATTAGTACTCTATAGTAGCCTACTACTCAGTAAATACTGCATTTCGGCCGTTAGAAAAGTATGTTCTGTACAGTATGAATGTCAGTAGTATGGATGGAACTTCATCATCATGTGACCTACGCGCGTCAGTTGTGTCGCTTCACTCTTATTTACGAATTATCTCGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa850
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:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000113323 | Nonsense | 267 | 355 | 7 | 8 |
Genomic Location (Zv9):
Chromosome 17 (position 50364059)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 49749984 |
| GRCz11 | 17 | 49849889 |
KASP Assay ID:
554-0753.1 (used for ordering genotyping assays)
KASP Sequence:
TTGTTGTGGAGATRTTTTAATTGTACGTCKCTGTTGACCATTGCAGTGTA[T/A]CTCAACGTGACCGACCTCACTTCCTACAACGTGGGCTACGACTCTTTCTG
Long Flanking Sequence:
GCAGATGCACTCCCACTACAGAATCATCTAAAAGGATCAATTCCTCCCAAATAGAGATATTCAAGTCATCGGGTGAAAATGTAAATTGTATATCATCTTGGAAACAGTTTGAATATCTGGTTAGTACATAAAAAAAGTTCCATTTAGGATGACAGTAAACTGCATCTCTACATGGCTGAGTGTAAAAGTGGATAGCCATTTTGGACACAACTGAAGGTTATAACACAACACAAGCTCTACTGAGTTGTTTATCTGTTACTCCAGGCACAACCGACACCATGGAAGCCTTCGTTGGAGACGTGACTTCACACCACCTGAACAACCTCCAGCCTGGCACCACATACGACCTGAAGGTTTACGCTCAGTATGATGCGGGCTTGAGCGGCGCTCTGGTCGGACAGGGAACCACCCGTATGTGCTTGCTTCCTTTAAATGAGAAATCCTGCAGCCTTGTTGTGGAGATGTTTTAATTGTACGTCGCTGTTGACCATTGCAGTGTA[T/A]CTCAACGTGACCGACCTCACTTCCTACAACGTGGGCTACGACTCTTTCTGCATCAGATGGACTCCTCATCGAGCTGCCACCTCCTACAGACTCAAAGTCAACCCTTTCAACCGTAAGGAGGAATTCTTTTAAGTTGATGCTGCATTTTATTCATGTCCCACTCTAAGACACTTTAAAATACTTAAGCCACATGTCATAGCCATGAAAAGATCAGTCAACCCTAAATATCTATTAATAATAGTAATTACTATCTCTGCTTGCCCTCATACTTGTTCTCCTGCTTAATTATGGATTATATACAGAATAAGTTTTCTACCAGAAAGACTTTAGGAGGCAGATAAACGTTTGAACATTTATTGTGTATTGTTTGCATAGATGCGAGTTCGTTATGGTCCTTTCATTAAGTCCTTTGGCGTAAGCCCCATCTATAGTGCAGAACTCTGGATGAGCTGGCAGATTCTGTCTGTAGATGAAGGCAGGGCGAAGCCAACCCCCTGAGT
Associated Phenotype:
Normal
| Stage | Entity | Quality | Tag |
|---|---|---|---|
| Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |