ZMP
col1a1a
Ensembl ID:
ZFIN ID:
Description:
collagen alpha-1(I) chain [Source:RefSeq peptide;Acc:NP_954684]
Human Orthologue:
COL1A1
Human Description:
collagen, type I, alpha 1 [Source:HGNC Symbol;Acc:2197]
Mouse Orthologue:
Col1a1
Mouse Description:
collagen, type I, alpha 1 Gene [Source:MGI Symbol;Acc:MGI:88467]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa25246 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa1748 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa25246
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000009393 | Essential Splice Site | 693 | 1447 | 31 | 51 |
| ENSDART00000047010 | Essential Splice Site | 693 | 1366 | 31 | 52 |
The following transcripts of ENSDARG00000012405 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 3 (position 23522794)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 23101005 |
| GRCz11 | 3 | 23231553 |
KASP Assay ID:
554-7696.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGTTGGTGCCCGTGGTTCTCCTGGTTCAGCTGGTAACGATGGTGCCAAG[G/A]TAAGTCTCATCTCTTCTGACTATTTTTATCATGCCAGACATTTACAGTGA
Long Flanking Sequence:
TCTAAATGCTGTATTTTTGTCATTGATGTTGATTTTAGATTGTTCATATCTTTGTTGTGCATCTGAATGACAGGGTCTGCCAGGACCTCAGGGTGCTACTGGTGAGCCAGGAAAGTCTGGTGAGCAGGTAAGTTTAAATGTAATTGCTGTCTATTGTATGATCAATGAAGCATTGCTTAAAAGGACACTACACATAAACATGGGCAACTTTGAAAGCCTTATCAATACTAACACAATACTAATTTGTGCTCTTTGATATAATACAGGGTGCTCCTGGAGAAGCTGGAGCTCCTGGACCTTCTGGTTCTAGAGTAAGTATCTACCAGATGATCAGCAAATGGCGAAAAGCTCATATATGAGAGGGACCAGAACTAATGGCATCTGTATTCATTTTTACTCAGGGTGACAGAGGATTCCCTGGTGAGCGTGGTGCCCCTGGCCCTGCTGGCCCTGTTGGTGCCCGTGGTTCTCCTGGTTCAGCTGGTAACGATGGTGCCAAG[G/A]TAAGTCTCATCTCTTCTGACTATTTTTATCATGCCAGACATTTACAGTGAATGACTAAGATAAATCAAAGGTTGCCACCAAATGTGAACCAATCTCCTGGAAAGTATGGCAACAAATCCTAGTCTGTATCAACATTAAGATAACTTGTTTTTCAGGGTGAAAGTGGTGCCGCAGGTGCTCCTGGTGCCCAGGGTCCTCCTGGACTTCAAGGAATGCCTGGAGAGCGTGGGGCTGCTGGCCTCCCTGGTCTTAAGGGTGACAGAGTGAGTATGACACAAACTGAACTTTGAACAGTTTGTCTTTGACAGAAAATATTGTTCCAACATACAGCGAACAAAGTTGTCAAAATTGTTGATCTCTTATCCCAGGGTGACCAAGGTGCCAAGGGTGCTGATGGTGCTGCTGGTAAAGATGGCATTCGTGGTATGACCGGACCAATTGGACCCCCCGGACCTGCTGGAGCTCCTGGTGACAAGGTGAGTGTCTTTTGAGCTAGATTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa1748
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000009393 | Nonsense | 1179 | 1447 | 48 | 51 |
| ENSDART00000047010 | Nonsense | 1179 | 1366 | 48 | 52 |
The following transcripts of ENSDARG00000012405 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 3 (position 23526433)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 23104644 |
| GRCz11 | 3 | 23235192 |
KASP Assay ID:
554-1741.1 (used for ordering genotyping assays)
KASP Sequence:
GACCTCCTGGACCTCCCGGCCCCCCTGGAGCACCTGGACCCTCTGGTGGT[G/T]GATTCGAYATTGGCTTCATTGCCCAGCCACAGGAGAAGGCCCCTGATCCC
Long Flanking Sequence:
ATTCTGTTTGGAATATGGAATTTGCAGTATATGCCTTGATAATAAAATCTGTAGATTGAAATCTGTTTTCATTTCCAATATTCCTGTCCATAGGGACCCTCTGGAGAGTCTGGACCCGCTGGTGCTTCTGGACCCGCTGGACCAAGAGTAAGTGTTATTATAAAACTTGCACTACTGCTGTTTCTCTGTTTTGATCGAATACACCATGTCCTTAGTTCATTCTGATTAAATTTGAATGTTTCTCTTATTGTGTTAATAGGGCCCAGCTGGATCTGCTGGATCAGCTGGTAAGGATGGTATGAGTGGCCTCCCTGGACCCATTGGACCTCCTGGACCCCGTGGTCGCAATGGAGAAATTGGACCAGCTGTGGGTGATTCTTTCCTTTTTTACATAATCGTGCACTCAATAAACTAAATATATGCATTAACACAAGCGTATATGGTTATAGGGACCTCCTGGACCTCCCGGCCCCCCTGGAGCACCTGGACCCTCTGGTGGT[G/T]GATTCGACATTGGCTTCATTGCCCAGCCACAGGAGAAGGCCCCTGATCCCTTCCGTCACTTCCGTGCCGACGATGCCAATGTGATGCGCGACCGTGATCTTGAGGTTGACACCACCCTTAAGTCCCTGAGCCAGCAGATTGAGAGCATCATCAGCCCAGACGGCACCAAGAAGAACCCTGCCCGCACTTGCCGTGACCTGAAGATGTGCCACCCAGACTGGAAGAGCGGTATGTTACTTTTCTTTGTTGTACAACAATAGAGAAATGTCTCATTTAAAAATTTGTAAATGTATTGCCTTGCATAGTTTAATCCCATTCCTCTCAAAACCATAACACAGGCGAGTACTGGATTGACCCTGACCAGGGCTGCAACCAGGATGCCATCAAGGTCTACTGCAACATGGAAACTGGCGAGACTTGCGTCAACCCAACTGAGTCTGCTATTCCCAAGAAGAACTGGTACACAAGCAAGAACATTAAGGAGAAGAAACACGTCTGGT
Associated Phenotype:
Normal
| Stage | Entity | Quality | Tag |
|---|---|---|---|
| Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |