ZMP
si:dkey-87m23.1
Ensembl ID:
ZFIN IDs:
Description:
Novel collagen protein [Source:UniProtKB/TrEMBL;Acc:B8JL13]
Human Orthologue:
COL5A1
Human Description:
collagen, type V, alpha 1 [Source:HGNC Symbol;Acc:2209]
Mouse Orthologue:
Col5a1
Mouse Description:
collagen, type V, alpha 1 Gene [Source:MGI Symbol;Acc:MGI:88457]
Alleles
There are 9 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa37227 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa37228 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa4934 | Essential Splice Site | F2 line generated | Not yet available |
| sa23852 | Essential Splice Site | Available for shipment | Available now |
| sa5957 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa43580 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa45726 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa37227
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 > G
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000027425 | Nonsense | 248 | 2024 | 5 | 65 |
| ENSDART00000139598 | None | None | 126 | None | 2 |
Genomic Location (Zv9):
Chromosome 21 (position 6566655)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 6687747 |
| GRCz11 | 21 | 6609998 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCGGTATTATTTGTTTGTCTTCAGAACCCAGAGGAGGATAACTATTATTA[T/G]GAATATCCCTACTATGAGGACATGGACTCAGACAAGACTGAAGAAACGAT
Long Flanking Sequence:
GGAACACTTTGATTGACATTCACCTTATGTAAGTGTCATCAGAGGAGGAAAGCCCCTCCCATTAGTGACCATCTCTCTGTCATTAGCAGAGGATATTAGTCTCATTTTTTGAATCTGCTGCTATGCTGACACAGCTCCGCCCTCTTTTGAAAAGAACACATTCTCATTTGAATTTAAAGCGACAGTCTCCAGAACTACATAATTAGGATCCAAGTCTAAAGGGTCAGTTTCAAAGAGTTATAAAACATTATTTGTGGGGTCTTTTAAGCTGAAACTTCACACACACACTCTTGGGACATCAGAAACTTATTTTAGATCTTGTAAAAAGGGGCGTAATCCTGTAGGTCCCTTTTAAAGATTTAATTGCATGATACTGTATTGAAATATTTGAGGTTGTTGATATGAATGCTGATAAACTCTAAAATGTGAATGTTCAGCTGTGAGTAACACTCGGTATTATTTGTTTGTCTTCAGAACCCAGAGGAGGATAACTATTATTA[T/G]GAATATCCCTACTATGAGGACATGGACTCAGACAAGACTGAAGAAACGATAACTGAAGAAACCACTGGAACCGAAACCGAAGTCAGTGTTTAGTTCTGTTTTTTGTAAAATAGTATATATCTGTCCGTCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCGTCCATTCATATATTGTTCATTCGTTTGTTCGTTCTTTCTATTATTTTTCCATTCGTCCGTCTGTCCGTCCGTTTATCTGTCTGTCTGTCTATCCATCTCATTATTGTTTGTTCCTTCTTTCTATCATTCTGTCCATCCGTCCATCTGTCCATCCATCCATCTATCGTTCGTTCGTTCATTCCTTCTATAATGTTTTCTATTCATCTATCTGTCTGTCTGTCTGTCTGTCTCACTTTTTATCTATCGTTCGGTCGGTTGATCATTCATTCGTTCTTTCTATCATTCTGTTTGTCTGTCCGTCCGTCCGTCTATCCGTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37228
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 |
|---|---|---|---|---|---|
| ENSDART00000027425 | Nonsense | 494 | 2024 | 7 | 65 |
| ENSDART00000139598 | None | None | 126 | None | 2 |
Genomic Location (Zv9):
Chromosome 21 (position 6570498)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 6691590 |
| GRCz11 | 21 | 6613841 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCGGTTATGATGATGCCCAGTATGGCGAGAGTTATGATCTGTCCTACGGC[G/T]AGGGATACGGAGAAGGATACGGAGAAGGAGATTATACTGTAGGAGGAGGC
Long Flanking Sequence:
GTATTTTATTTTATTTTATTTGTGCATTTTATTTTATTATTTTATTATTTTTATTTAAAAAAAATATTTTGTATTTTATTATTATATTTTATTTTATATTATTTAACTTTATTTTAATTTATTTTATTTTTGTATTTTATTTTATTTTTTATTTTGTTTATGTGTTTTATTTGCTTTTATTTTACAGATTTTTTTTAATTTTATTTCTTGTATTTTATTCATGTATTTTATTTTATTTTGTTTTTTATTTTTAATTTGTTTTGTTTTATTTTATTTTATTTCTGTATTTTGTGCATTTTATTTTTGTATTTTATTTGTGCATTTTTATTTTATTATTTAATTAAGTTTAATTCTATTTCATTCCATTCTATTTTATTTGTTTATTTTATTTTATGTTATTCTTTTAACAAACCATCTCTGTTTGTCTGTCCATGCAGGTTGGTGGAGGCGGCGGTTATGATGATGCCCAGTATGGCGAGAGTTATGATCTGTCCTACGGC[G/T]AGGGATACGGAGAAGGATACGGAGAAGGAGATTATACTGTAGGAGGAGGCAGCAGCAGCTCCAGCACCTCAGTGTCTGTCGGGGGTGGATCTGTGTCCGTTGGGGGCGGGTCTGTGTCAGTTGGAGGCGGGTCTGTTTCTGTTGGAGGCGGGTCTGTTTCTTCAAGTGGCTCCATTGGGGGCGGAACCAGCAGTGCAGGGGCTGCAGCGGGGGCAGAGTCTGTTGCCACGGGTGGACAGGGAGGCATCGGTGGAGAAGCAGAATCAATCGATATCGACAAATTTAAAGAGGAGTCCATCACGGATTACACCGATGCTGAGCTGGAAAAGATGTACGATTACGATGATTTGTACACCGATGGTGATAAAGCACTTCCTGCCGAGACCGATGAAATCTATGGACAGGTAAGGGTGGTTGTGTCTACAATAATTCTACAGTTGACCTTGACTATGACAAATTTTGTGATTGTTTACTTAATTTCATTCAAGGTTGGAATGACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa4934
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 |
|---|---|---|---|---|---|
| ENSDART00000027425 | Essential Splice Site | 661 | 2024 | 9 | 65 |
| ENSDART00000139598 | None | None | 126 | None | 2 |
Genomic Location (Zv9):
Chromosome 21 (position 6581864)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 6702956 |
| GRCz11 | 21 | 6625207 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCTGTAGGGAATGCTGGTGGAAGGTCCGTCCGGTCCTGAGGGTCCAACGG[T/C]GAGTCAGCTTGTGCTTTTGTGTTTCTCCACACACACACACACACACACAC
Long Flanking Sequence:
GCTCCAACTCTAATCACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACCTGCTTATAGATTTCTAGTGATCTTGAAGACGCTGATCAGCATGTTCAGGGGTGTTTAATTAGTGTTGGAGCTAAACCATGTAGGACACTGGCCCTCCAGGACCGGGTTTGCCCACCCCTGCATCATACAAACACAGATAGACACACACACATACACCTTCACAGTCATACACAAAAAAATATACACATGCGCATACACATACTCACATAGACACACTCACACTCAATACACACACACACACACAAACACAGATGGAGGTGTTCTCACACTTGAGCTCTTGTGTTTGTGTTGTTTTTACTGTGATTTTGATGTTTGTGTTTTTCTGCTCGTCCTGTAGGGAATGCTGGTGGAAGGTCCGTCCGGTCCTGAGGGTCCAACGG[T/C]GAGTCAGCTTGTGCTTTTGTGTTTCTCCACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACGTTTTCCCACTAAAAACAAAATTTTTTTTTTACATCTTGGCTTATCATTTACACTGCAACAGCATCTTGGGGGGGCCTCCAAGTGCAAGTTTTAAAAAACAGTACTATTATACTAGAATAAAAATAAATATCTTGTGCATCTCTTCAGCCTTCATGAATTTCCCACATAGCAAAATTTCTCTGGCCCAGCTCTGGCCCATACAATCAGGTTTTGCTTGGCCCACATGCCGCAGTGAATTACGGTACATGACTGGACCAAATCTGGCTACCAGACAAGGGCCAAACACGGACCATATCTGGGCCAAGTCTCAGCCAAGTTAATAACTCGTAACTGGGCCTGAACTGGGCCAGATAGGTTGGTGTGTCACGATTGCAATGAAATTAATAAACCCATGGAGTGATGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23852
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000027425 | Essential Splice Site | 793 | 2024 | 15 | 65 |
| ENSDART00000139598 | None | None | 126 | None | 2 |
Genomic Location (Zv9):
Chromosome 21 (position 6595655)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 6716747 |
| GRCz11 | 21 | 6638998 |
KASP Assay ID:
2261-5206.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCGTGGTCCAATGGGATCTGCAGGCCCTACCGGAAAGCCTGGTAGAAGG[G/A]TAGGTTTGCATTTCGCTGAAATCCCCCAGGCTGGTGTGATTGTTATTATA
Long Flanking Sequence:
AAATAATGTACCAAAACAAAACTATACAAAACAAAAATATCTAGAGATATTTAAATGTTAATATAATTCCTATAATATACAGTGCATATATATTTTATATCTAAATATAAATAAAACATTCATAACAAAAATTAAACAGATAAAACATTGTAATTAATCGTTGCCCAGTGCTATTTTTATTTAATAATCCTATCGCTGCAGCTATTAAACTATCCCTATCTTTTTTTTACAAAACTATTTAATCACTTTTGTATAATAAACATCATTAAAACCTCATTAAACCTAAATTTGCTGCAATATAAAGATGTTTCCAGTCACTACCCTTTTATTTTCATTTTACCACTACCCACAACTACCCTTGGCTCATTTGTCATTTAAGGGGAGAGGCTTATTGATAATGTAGGTCGATTACACAAAATTTACAGACCTGTTTTTGTGTGTTTTAGGGTCCTCGTGGTCCAATGGGATCTGCAGGCCCTACCGGAAAGCCTGGTAGAAGG[G/A]TAGGTTTGCATTTCGCTGAAATCCCCCAGGCTGGTGTGATTGTTATTATATAGTAATGATGTTTTGTGCGTTTTTAGGGTCGACCCGGCTCAGATGGAGCCAGAGGGATGCCTGGACAGACAGGACCCAAGGTAAACCTAGAGAGATTTACAATAAACAGACTGCTTTTAGCATGACACACAATGATGAATGTGCACAGTAAGATGAAAGAAAGGAAGCAGATGGATTATAATTGGGAATAATTGTCTCTAAAAATGTAACTGTCCTGTAATTAGGAACTGTTTTGTGTCTGTGTCTCACAGGGAGATCGAGGATTTGATGGTCTCGCTGGTTTGCCCGGTGAAAAGGGACACAGGGTAAACATGGTTTTTATTTTTCATTTTTTAATTTAATTTTTTTCTTTTATTTATTTATTTTATTTTAATTATTTTTTATTTTTATTTTTTATTTAATTTTAATTCATACAATAAAAATTATTTATGATTATTTTAAGCAGGGTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa5957
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000027425 | Essential Splice Site | 881 | 2024 | 21 | 65 |
| ENSDART00000139598 | None | None | 126 | None | 2 |
Genomic Location (Zv9):
Chromosome 21 (position 6599416)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 6720508 |
| GRCz11 | 21 | 6642759 |
KASP Assay ID:
554-3852.1 (used for ordering genotyping assays)
KASP Sequence:
ACGTTTGCTGAATTAGTTTTTCTCAGTTTTGGTCTGGTTTTAATTGTTTT[A/C]GGGTGTGACTGGTATGGACGGACACCCAGGACCTAAAGGAAACATTGTAA
Long Flanking Sequence:
AATATGAATAACATCTTATAATAAACATTTATTTTATTATAATGTTTTAGCATTTAAAATGTAATACTTCATAGCTCTTTAATTAATTTAGAATAATTTTTTTTAAATAAATAATACTTAAAATGAAGCACGTGAGATGAAGTGTGTAATAGATGGCATAAAAAACTGCTTTATTCATATCGAGATCATGTGACCTAGTGAATGCAGCCCCGCTTTTTTTTTATCTCAGTAAAGCCTGTGTTTATCAGCTGAACACAACTCTCCATCTCCTCATCTTCTCTTATTCAGGGTCCTCGTGGTGTTTTGGGCCCCAAAGGTCCTCAAGGGCCTCCAGGACCTCCTGTGAGTGCAAATGTTTTCTTCATCTGAATCTTTTTTTCTCTTTCATTCATTAGAGTTATCACTAATTTAAACAACAGCCTATTAATGAATGTTTTTATTCTTAGTGTTACGTTTGCTGAATTAGTTTTTCTCAGTTTTGGTCTGGTTTTAATTGTTTT[A/C]GGGTGTGACTGGTATGGACGGACACCCAGGACCTAAAGGAAACATTGTAAGTCTGACACACATACATTTACACATGAATATGTTTATGCATGATTTATATACAATTATTGCAACATTATTAAAAATATTAATATTTCCTGTTTAGGAAATTGACAAATAATTTTTAAGGGCAATATTGTTCAAATTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATGTATGTATGTATTTATGTATGTATGTATGTATGTATGGAATTATTTATTAATTAATTAATTTATTTATTTATTTATTGATATATTTGTGTATTTATAAATTTTTTATTTATTTGTTTGTTCGTTCGTTCGTTCGTTTGTTTATTTATTTATTTGTTTGTTTATTTATTTATTTATATTTTTTTTGATTGGCTACTGAACAATAAATTCTTTAAATATCACTTCAATGACTGGATACTAGTGTTTTGCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43580
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000027425 | Essential Splice Site | 881 | 2024 | 21 | 65 |
| ENSDART00000139598 | None | None | 126 | None | 2 |
Genomic Location (Zv9):
Chromosome 21 (position 6599417)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 6720509 |
| GRCz11 | 21 | 6642760 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGTTTGCTGAATTAGTTTTTCTCAGTTTTGGTCTGGTTTTAATTGTTTTA[G/T]GGTGTGACTGGTATGGACGGACACCCAGGACCTAAAGGAAACATTGTAAG
Long Flanking Sequence:
ATATGAATAACATCTTATAATAAACATTTATTTTATTATAATGTTTTAGCATTTAAAATGTAATACTTCATAGCTCTTTAATTAATTTAGAATAATTTTTTTTAAATAAATAATACTTAAAATGAAGCACGTGAGATGAAGTGTGTAATAGATGGCATAAAAAACTGCTTTATTCATATCGAGATCATGTGACCTAGTGAATGCAGCCCCGCTTTTTTTTTATCTCAGTAAAGCCTGTGTTTATCAGCTGAACACAACTCTCCATCTCCTCATCTTCTCTTATTCAGGGTCCTCGTGGTGTTTTGGGCCCCAAAGGTCCTCAAGGGCCTCCAGGACCTCCTGTGAGTGCAAATGTTTTCTTCATCTGAATCTTTTTTTCTCTTTCATTCATTAGAGTTATCACTAATTTAAACAACAGCCTATTAATGAATGTTTTTATTCTTAGTGTTACGTTTGCTGAATTAGTTTTTCTCAGTTTTGGTCTGGTTTTAATTGTTTTA[G/T]GGTGTGACTGGTATGGACGGACACCCAGGACCTAAAGGAAACATTGTAAGTCTGACACACATACATTTACACATGAATATGTTTATGCATGATTTATATACAATTATTGCAACATTATTAAAAATATTAATATTTCCTGTTTAGGAAATTGACAAATAATTTTTAAGGGCAATATTGTTCAAATTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATGTATGTATGTATTTATGTATGTATGTATGTATGTATGGAATTATTTATTAATTAATTAATTTATTTATTTATTTATTGATATATTTGTGTATTTATAAATTTTTTATTTATTTGTTTGTTCGTTCGTTCGTTCGTTTGTTTATTTATTTATTTGTTTGTTTATTTATTTATTTATATTTTTTTTGATTGGCTACTGAACAATAAATTCTTTAAATATCACTTCAATGACTGGATACTAGTGTTTTGCAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa45726
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000027425 | Essential Splice Site | 1132 | 2024 | 34 | 65 |
| ENSDART00000139598 | None | None | 126 | None | 2 |
Genomic Location (Zv9):
Chromosome 21 (position 6617407)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 6738499 |
| GRCz11 | 21 | 6660750 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAGGGCAACTCTGGAAGCGATGGCCCCCCAGGACCACCCGGTGAACGGG[T/C]ATGGTAGAAATAGTCATTGAACTAATCCAAAGAATTGATTATTCTATATT
Long Flanking Sequence:
CCCTTTAATATAATGTCCAAAATGTAAAAAAAAAAACTATAATAAAAACAAATGCGTGCGCTTGCACATAAAAACTCACTCAGCTAAAGCACACCACATCCTAACAGATAACAACTCTCTTTTTTACGGGATATTTTAAAGCTCTTTCATCATTTGTGTTGGCATGAAATCTAAAAAGTGAATACTTTGACAGCAGCTAACGGTCTTATTACATTTCAAAACGCAATGTTTGGCTCAGCTGGAGCAAATTGAAATGCAACAGAGATTTTACAGACCTCCACATCCTCCATCAGTCAAACAGATCTTTAATGGCACTCATTACCTCCAGCAATAAGCACACGTTTTACGGTATTAATATTTAAACGCATTTGCGTGGGCGTTTACAAACAGTCTGAAATATTAAAATGTTCTGTTTAATTTCCTCATCCCTTTCTCGTTTGTTTCTCCACCACAGGGCAACTCTGGAAGCGATGGCCCCCCAGGACCACCCGGTGAACGGG[T/C]ATGGTAGAAATAGTCATTGAACTAATCCAAAGAATTGATTATTCTATATTGCTTCAGAGAGAGATTTAACCTCAGTTTCTGTGTTTTCTTATAGGGTCTGTTGGGACCACAAGGACCAGCTGGATTCCCGGGCCCTAAGGGTCCACCTGTATGTGATGTTGATGTTTTAAAAACAACTACAGTATCATCATTCAATTATCTATCCTGATTCTCCCTCACTCTCTTGTTTTTCAGGGACCTCCTGGTAAAGATGGACTGCCCGGACACCCTGGTCAGAGAGGAGAGACTGTGAGTAGCATCTAATATCACGATATTGGAAAAATAGGACATTGCGATATTTTGTTTTTCTGCGATGTGTATTGAAGAGCTCAATGTTTATTTCATTTAGGTTTTATTAAAATGATTCTGTAGTGGCGTGAATCATGAATAAAGAATAATAAACAAATCACAAGTTTTTTTTTAAATCACAGTTTTAGGAACAGCACATAATAACTTGACTT
Associated Phenotype:
Not determined