ZMP
col1a1b
Ensembl ID:
ZFIN ID:
Description:
collagen, type I, alpha 1b [Source:RefSeq peptide;Acc:NP_958886]
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 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa12931 | Nonsense | Available for shipment | Available now |
sa41934 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa45443 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa12931
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000015092 | Nonsense | 68 | 1449 | 2 | 51 |
Genomic Location (Zv9):
Chromosome 12 (position 3723840)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 3097360 |
GRCz11 | 12 | 3132093 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CAAATCTGCGTCTGCGACAGCGGGACGGTCATGTGCGACGAGGTGATCTG[C/A]GAGGATACAKCAGAYTGTGCCAATCCAGAGATTCCMGATGGAGAATGCTG
Long Flanking Sequence:
TGATGAAGGCCTGTCTTTAACATCATCACCCTAATGCACCACGCCCAATTACACTATTTTATCCTAATTTTAAAGATTTTTAACAGTTAAATTAAAACAGTAAGGTCTCTAATGTTCACTCTCTGCATTTTGCAAGAGTAATGCCATTATCGTTGCTTTTGTGTTATACTTACCATATATTTCCTTCTAAATGTAACCTAGAGGTGTTTGTATTTGTATGTTTTAGAGACTTTTTTATTCACTTAGCACTCTGAGGGTGATATTTAGTTGCCTGTTTGGTTACAATTATCTTTTAAAATCAAATTGGGATATTATTGTGGACCCTTCAGTTCAATTGATTATCCTCCACTGTCCTAATTCATGCTTCTTGTCCTTGCAGTCTCATTCGGTAGCTGTACATTGGAGGGTCAGAATTACAACGACAAGGATGTATGGAAACCCGAGCCCTGCCAAATCTGCGTCTGCGACAGCGGGACGGTCATGTGCGACGAGGTGATCTG[C/A]GAGGATACATCAGACTGTGCCAATCCAGAGATTCCCGATGGAGAATGCTGCCCCATCTGCCCCGACGGTACTACCTCCACCTTCAACCTTGTGGTCATGCTAGCTCTGCCGCCCTCAAGTGTGCAAACGCTTAATCACATGCTCTGGGAAATATCTGTCATTGGCCTGCCATCATGCTGGAGCCCTATGGAGTTTTAATACTTCACTGGATTCTTTCACCATTGATGCCTTTACATGCAGCTGAGGGATTAAGGATGCTTTTGCTTGTAGCTGTTATTATTTTTCAACTAATAATGCATTTTCTGCACTGTTTTTCACAACAGTGTATGATGCATTGCACATCAATGTGCTTTCATATATATATATATATATATATATATATATATATATATATATATATATACACACACACATTTTGTGTGTTTCGTTTTGTAAATGCATATTAAGCTTCATTTACACACAAAACAAAGTAATGATGCTTTGTTTTGCTATTGTTATTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa41934
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000015092 | Nonsense | 578 | 1449 | 26 | 51 |
Genomic Location (Zv9):
Chromosome 12 (position 3712627)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 3086147 |
GRCz11 | 12 | 3120880 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTGTACCAACTGCTTGATATTCACATATATTTGTTATTCCTTTTAGGGT[G/T]AGAGTGGTAAACCTGGTGAGAGAGGACTTGCTGGACCTACTGGCCCTCTG
Long Flanking Sequence:
TAAAGACTGCTGATGCACATTTCAAGATTAACATTAACTTGATTGAAGCTTCTTTTTTATATGGCTTTTGAAGCATGTTTAATTTTTCATTTCTTAATCGCTCTATTTTATTATAATAAATAATTTTAAACCACAAAGATTTAATCATAAAATTAATTCCACAACTTTTTATCATTATTTTTATGCATTTTATTTATGCATTTGTAATTTGGGCATGGTTGCACCATGAGCCCATAAGTAGCATCCTTTCCTCATTTAGCATGAGCTAAATATTCTCAATATATCATATGTATTAGTATTGTATGATATGATACATGAAACATAATTGAAAAAAAAAAAGTAATATATGATCTTTATTTTTTATGGTATTTATTTTTTTGTTCAAATTGTTTAAAAATGAGGTTTCTTAGTTATTTTAAGTTTTATTTTTGAAGTATTTATGAATGTCAGCTTGTACCAACTGCTTGATATTCACATATATTTGTTATTCCTTTTAGGGT[G/T]AGAGTGGTAAACCTGGTGAGAGAGGACTTGCTGGACCTACTGGCCCTCTGGTATGTACCAAAAAGGGTGGGAAATGCTGGCAAATTGGCTAAAAATGCTTAATAGTTTAAGATAAGATGACATAAATACCCCTTGCTCAATTAAACAAAGTTTATCATGACTGCCGTAAGTAATAAAAGAAACCTCACATCTGCTCTCATTGTGTTTGAGCTTTATAAGCAATAACACATCGCTGTTGTCAGTAAAGGGGCTAATCAGCATTTAGATTAGTCTGTTATGTTTTATATTTAATATCCAGTTTACCCCTTTATATGGCACTCATTAAAATGCTCATCAGAAAAGCCCTGGAGTGGCTTTTGAGCTTTTATTACTTAAAAAAAGCAAAAAAAATGTTTAAAAAGCATTTAAAATAATATATTGTAATCAATGTCAGTAGGCAGTGTTAACCCCTCCAGATCTCTCATTTAAATTAATATTTTTATAGGATACTTTACAATACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa45443
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000015092 | Essential Splice Site | 786 | 1449 | 34 | 51 |
Genomic Location (Zv9):
Chromosome 12 (position 3706423)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 3079943 |
GRCz11 | 12 | 3114676 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCCTGGTGCTGTTGGACCCCCAGGATTGACTGGACCTCGTGGAGGCCCTG[T/A]AAGTTATTACAGAAATTAAATATCTTGAAACATAGACATAAGGAGCAAAA
Long Flanking Sequence:
TTTAAAAGACTTATTGACCCTTATGACTGCTTTTGTTGTCCTTACTTAACCTAAATTGTCTTTTAACATTTCATCCAATGATTCTTGTTCTTAATATGACAGAACGTTTCGGTACATTTGGACCTATTTCAGTATAGCTTTATAAACAGTATTGATGCTGTGCTTTCTCTTTAGGGTGATGGTGGTCCTAAGGGTCCTGATGGTGCTCCTGGCAAAGATGGCGTGCGTGGCATGACCGGCCCTATTGGACCTCCTGGACCCAGTGGTGCTCCTGGTGATAAGGTAAAGACATATGAAACATTTATTAGATAGCATTGAAAGATTAACACTAATGTTGTCAAGCAATTACGTTTCAGCTTCAAAGTCATTTTGAATTGGTCACTAAATAAAAGGATAAAAGAATAATGTTGATACTAAATCAGCTTTGTATTTGGTTGTGTTTTAGGGAGAGCCTGGTGCTGTTGGACCCCCAGGATTGACTGGACCTCGTGGAGGCCCTG[T/A]AAGTTATTACAGAAATTAAATATCTTGAAACATAGACATAAGGAGCAAAAGATAATGCTAACTTCCAAGCAGTTGCATGCAAAATGTATTAGCAGAATTAGCCTAGTGTATCATATTTGATCGACATTTTAAAAAATCTTTTGCACATAGTCTACTGCATGCCTTCTGATTTGTAAATCAGACTTTTATTTTGAAAATGGCACCTTTTTGCTCAGATTAAAATCAAGTATTTTTATCCTTATTTTTTTCATTATGTCACACTAGATAACCCGCAGAAGTCTAATATATAAAATTTGAATAACTCAAACAAACATGCATGCAATTTGTCATTTCTTTAGAGTTTATTAAATAAGTCATTTTGCTTCAAGCTTTGCACAGTATGTATGGGATTATATATAAACAATGTAGTGCATGTCACTGATGCATTTTGATTTTTGTCCTATCTCAGGGTGAGCGCGGTGAAGTCGGTGCTCCTGGACCTGCTGGTTTTGCTGGACCTC
Associated Phenotype:
Not determined