ZMP
col2a1a
Ensembl ID:
ZFIN ID:
Description:
collagen alpha-1(II) chain [Source:RefSeq peptide;Acc:NP_571367]
Human Orthologue:
COL2A1
Human Description:
collagen, type II, alpha 1 [Source:HGNC Symbol;Acc:2200]
Mouse Orthologue:
Col2a1
Mouse Description:
collagen, type II, alpha 1 Gene [Source:MGI Symbol;Acc:MGI:88452]
Alleles
There are 5 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa34379 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa34380 | Nonsense | Available for shipment | Available now |
| sa21270 | Essential Splice Site | Available for shipment | Available now |
| sa532 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa34379
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000091307 | None | None | 1421 | None | 53 |
| ENSDART00000100234 | Nonsense | 44 | 1491 | 2 | 54 |
Genomic Location (Zv9):
Chromosome 8 (position 21736267)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 21166164 |
| GRCz11 | 8 | 21198249 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCTGGTGGCTGCAGAGGAAGAGTTTGGCGGCTGTGTTCAAGATGGCCAG[C/T]AGTATGCAGACCGTGCGGTTTGGAAACCAGAACCGTGCCGTGTCTGCGTG
Long Flanking Sequence:
GGCACTAGGCTGTCAATGCAGCCCTGTCTGTGTTTGAGAAAGACCCATTCATGGCTAGTTTTGGAGATTTGGGGTTCAGTTTCAAATACGCAGACTACAGGAGGCCACATTTTACACCAGGGTGTCAGATATGCACCCTGCAAATATTGCTAGCTAGTGTTGTGGTTAGTGTATAATCAAAAAGTAACCAGCTGTCAGACATCAGTTGGACTCATATCTGAACTGTATGCATGTAAACATATATATATGCAATGTATCTGTAATTATTTTATATACAAATAATATATTTAAATGCATTAAATATATTAAGTATACATCAAATATATATGTATTACAAAACATTTCGAAGTTAGGAGACTTGTGCTACTTGCTTCTTATTTTATTTATTTTTTTGAGTGTGTCACATGCTCACCTGTCTCTTACCTTCATGCATTCCTTACTGTCGCCCCCTTCTGGTGGCTGCAGAGGAAGAGTTTGGCGGCTGTGTTCAAGATGGCCAG[C/T]AGTATGCAGACCGTGCGGTTTGGAAACCAGAACCGTGCCGTGTCTGCGTGTGTGATTCGGGGACTGTGCTGTGTGACGAGGTCATCTGTGAGGATCTGAATGACTGTGCCAATCCCATCATTTCACCTGGAGAGTGCTGTCCCATCTGCCCAGCTGACACCGACGACCCTATCGGTCCGCTCTCTGCTCACACACCTCTCTTTGCTTCTCACACCTGTCCTGCTCAATGTCTGCTTTGAGTTCTGTAACTTTGTCGTGCATACCATTAGACTACAGCCTGGTCATGTTGGTCATGTAATTGTGTTCAGAACTCAAAGCAAACGTTCCAAGTTTGCAACACTTTTAAATTTTATTGTTGATTCAAGTTTTAGACCAAATTATGTTTTTTTTTTTCTCAGTTATAGCTGTATTTGGATAAAATGTGGACACTTTTCATTTTAATTGAGAGGTTGTGTTTTTGGAAGCACATCTTGCTACCTGTTTGGCCACTACAATAAGAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34380
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 |
|---|---|---|---|---|---|
| ENSDART00000091307 | Nonsense | 162 | 1421 | 9 | 53 |
| ENSDART00000100234 | Nonsense | 232 | 1491 | 10 | 54 |
Genomic Location (Zv9):
Chromosome 8 (position 21740855)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 21170752 |
| GRCz11 | 8 | 21202837 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTGTCATTTGTTTCCATTCCAGGGCCCACAAGGTTTCCAAGGCAACCCT[G/T]GAGAGACTGGTGAACCCGGCCCTGCTGTGAGTGGCCCATATCTCGATTTC
Long Flanking Sequence:
GTCTTATTATTTAAAACTGTAATAGATAATCAACTGCTACATGTTTCTTGATCTTTGGTGCTCTTTACTTTTCAAATGCCACCTGTTCTCAGAAAATTACAGTGCTGCACAGATTATAACAAATAATCATATATGCAAAACAAATTACACACAATTAAACAAATAATTGATCCTTTTTTATGAAAAATAGACATCTTTTAAAAATAATTCTAAAGTATAGTCAAACAATTTAGTGTTTATCTGGGTCAAAGATGCCATGTTGCATTTATTTTATCTGTTTTTACAGGGTCCAATGGGTCCCCGTGGTCCTCCTGGCCCCTCTGGAGCACCTGTAAGTAAATGCATTTTATATGCCTAATTTATTGATGAATAATAATTAGATTCTCAACAGTAATGAAAGAGATAAGAGTAATTTGTAAGCACCCATCACCGCCAACTCCCAAATCCCACACTGTCATTTGTTTCCATTCCAGGGCCCACAAGGTTTCCAAGGCAACCCT[G/T]GAGAGACTGGTGAACCCGGCCCTGCTGTGAGTGGCCCATATCTCGATTTCCTGCACATGCCTACGCATATGACACTTTATATTCCCACATACCCTACATATTCCACAGCCCACAAAGATGACACTTTCATACGCACATATCAATGGCACTGCCAAAAAACATCAACAACAACAAATTGATTAATTAGAACACAATACTGTTTTAGGTTTTAACAGTCTTTAACAATTTACAATTTAACAAACTTTAGGGTGCCCTTGGACCCCGTGGCCCACCCGGCCCCCCTGGAAAACCCGGAAGTGATGTGAGTAGTTTTGCCACTTTGATATTTAACTCTTCCAAATAGTGAATGTTTGAAAGATGTTAACTGCAATGTCTCTTAATGTCCTTCTTCATCCAGGGTGAGGCTGGCAAACCTGGTAAAGCTGGTGAGCGTGGACCCCCAGGACCTCAGGTAATTATATAGAAACAAAGACCCACATACAACAGTTTTAGTCACTTAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21270
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 |
|---|---|---|---|---|---|
| ENSDART00000091307 | Essential Splice Site | 170 | 1421 | 9 | 53 |
| ENSDART00000100234 | Essential Splice Site | 240 | 1491 | 10 | 54 |
Genomic Location (Zv9):
Chromosome 8 (position 21740883)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 21170780 |
| GRCz11 | 8 | 21202865 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAAGGTTTCCAAGGCAACCCTGGAGAGACTGGTGAACCCGGCCCTGCTG[T/C]GAGTGGCCCATATCTCGATTTCCTGCACATGCCTACGCATATGACACTTT
Long Flanking Sequence:
ATCAACTGCTACATGTTTCTTGATCTTTGGTGCTCTTTACTTTTCAAATGCCACCTGTTCTCAGAAAATTACAGTGCTGCACAGATTATAACAAATAATCATATATGCAAAACAAATTACACACAATTAAACAAATAATTGATCCTTTTTTATGAAAAATAGACATCTTTTAAAAATAATTCTAAAGTATAGTCAAACAATTTAGTGTTTATCTGGGTCAAAGATGCCATGTTGCATTTATTTTATCTGTTTTTACAGGGTCCAATGGGTCCCCGTGGTCCTCCTGGCCCCTCTGGAGCACCTGTAAGTAAATGCATTTTATATGCCTAATTTATTGATGAATAATAATTAGATTCTCAACAGTAATGAAAGAGATAAGAGTAATTTGTAAGCACCCATCACCGCCAACTCCCAAATCCCACACTGTCATTTGTTTCCATTCCAGGGCCCACAAGGTTTCCAAGGCAACCCTGGAGAGACTGGTGAACCCGGCCCTGCTG[T/C]GAGTGGCCCATATCTCGATTTCCTGCACATGCCTACGCATATGACACTTTATATTCCCACATACCCTACATATTCCACAGCCCACAAAGATGACACTTTCATACGCACATATCAATGGCACTGCCAAAAAACATCAACAACAACAAATTGATTAATTAGAACACAATACTGTTTTAGGTTTTAACAGTCTTTAACAATTTACAATTTAACAAACTTTAGGGTGCCCTTGGACCCCGTGGCCCACCCGGCCCCCCTGGAAAACCCGGAAGTGATGTGAGTAGTTTTGCCACTTTGATATTTAACTCTTCCAAATAGTGAATGTTTGAAAGATGTTAACTGCAATGTCTCTTAATGTCCTTCTTCATCCAGGGTGAGGCTGGCAAACCTGGTAAAGCTGGTGAGCGTGGACCCCCAGGACCTCAGGTAATTATATAGAAACAAAGACCCACATACAACAGTTTTAGTCACTTATTTAGGTTATTTTTTTTCTATTAAGGCGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa532
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000091307 | Essential Splice Site | 632 | 1421 | 31 | 53 |
| ENSDART00000100234 | Essential Splice Site | 702 | 1491 | 32 | 54 |
Genomic Location (Zv9):
Chromosome 8 (position 21746867)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 21176764 |
| GRCz11 | 8 | 21208849 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATAGGGTGTTCCTGGAGAGGGTGGTGCTGCCGGTCCCACTGGACCAAGA[G/T]TGAGTTTCTATCCTTCACTAAGAAGACCCCCAATACAACTTAGTGTGAAT
Long Flanking Sequence:
ATTTATGTAATTGTACAATTAATGCAGCATTACCTTAAACATTTAGCTTCTGTAATCAATCAACAAAATTAAAAAACAGTTTACTCTAGTGTCTGAAATATTTCTGTAGTGCCTAAATTATGATTTTGATGTGTTTTAGGGTGCTGTTGGTGAGAGAGGAGAACAAGGTCAACCTGGTCCATCTGGCTTCCAGGTACATTTGCGCATATTTAATATGCTGTATATATACTGGAACTAATGTACATATTAACTTAGATCAAGGGATCAAGATTTTCTAAGGTTTACTCTGTTTTTGTGCAGGGTCTGCCTGGACCTACTGGAGCCCCCGGAGAACCTGGTAAACCTGGTGACCAGGTGAGGATTACTGAATATATTATTCATATGCTCCATTTGTGCTGTTGAGATGATATTAGTGACATTAACTATCATGACTATGCCATTCTTTCTCTGCATAGGGTGTTCCTGGAGAGGGTGGTGCTGCCGGTCCCACTGGACCAAGA[G/T]TGAGTTTCTATCCTTCACTAAGAAGACCCCCAATACAACTTAGTGTGAATGAGTATTAATGTGATGTGACTCCTCTGTGCTTTCTCAGGGTGAGCGTGGTTTCCCTGGTGAGAGAGGAGGCGCTGGCCCTCAGGGTCTCCAAGGACCAAGAGGACTTCCAGGAACTCCCGGAACAGATGGACCCAAGGTGAGACCCGCATTGCATCCATCCCAAATCATCCATTTGATGAATTTAAATGAATGCATGGACTACTGTGCAACATTTTGCATGAAATGTTTTGCATGTTAGACCACAAGTTTTAATGAGAATTACTGAGAATGAGATTGGGAGAGGTGGCACTTAGCGTTGACGCATGCGAGAACCCATGTTGAAGTGCAATAAAATGCTTAGAGACATGACCAAGGAGTAGAAGAAGAAGAATATTTTTTGTCTGTTTTAAAAAAATGTTTCTTAAGCTGGCTAAGTTTGCATTTTAAAATCCAAATGACATATTTAATGC
Associated Phenotype:
Normal
| Stage | Entity | Quality | Tag |
|---|---|---|---|
| Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |