Busch Lab

ZMP

col9a2

Ensembl ID:
ENSDARG00000024492
ZFIN ID:
ZDB-GENE-030131-9786
Description:
collagen alpha-2(IX) chain precursor [Source:RefSeq peptide;Acc:NP_997744]
Human Orthologue:
COL9A2
Human Description:
collagen, type IX, alpha 2 [Source:HGNC Symbol;Acc:2218]
Mouse Orthologue:
Col9a2
Mouse Description:
collagen, type IX, alpha 2 Gene [Source:MGI Symbol;Acc:MGI:88466]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa9812 Nonsense Available for shipment Available now
sa8661 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa9812
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000033037 Nonsense 155 690 9 35
ENSDART00000035093 Nonsense 155 691 9 32

The following transcripts of ENSDARG00000024492 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 19 (position 39983922)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 38847905
GRCz11 19 38435025
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGGGTGTCATGGGAAGTCCMGGACCTTCAGGATTACCAGGACCTCCAGGC[A/T]AGCCTGTAAGTCACAGTAATGTTTCATTTACTTCACTATGAAATATCGTC
Long Flanking Sequence:
CCATGTCGGTTCATACTGTTGCCAATCAGTCTATGCGAGAAAATATTCATTAAACAGTCTGAAACTGGCAGATCTAGAGCAAAGATAGACAACATAAGTGTTCACAAGTAAAGTAGATGTTTGTTTCTACATACAGCCTAAAAGTAAAGTCAACAGATGCAGTTTAGATGCATAGTTGTATTGTTTGACCTACAGTAACCTCTGAAAAAGCCAATCAGAAGATACGGTAGGTCAGAAACACTAAAAACTCAAATACATTTTATTAATGAATTAGACGTAATTAAAAAACAATTACATAAGTTTGATTCACTGAAGCATGTATTACACAAACATTCCTAAAAAAGTTGACCTTCCCCTTCCTCCCAATTGTCAATGTATAATTCGCCCCTTGCATATAAATGAATGGACTACTGATCTGATGTCTACTTGCTCTCAAATCTCTCCTCACACAGGGTGTCATGGGAAGTCCCGGACCTTCAGGATTACCAGGACCTCCAGGC[A/T]AGCCTGTAAGTCACAGTAATGTTTCATTTACTTCACTATGAAATATCGTCTTCTCAAGTTAAATCACAAAATTCAATCCTCTGTATAAATCTGTGGAGCTGATAATAAATCAGTGTCAGGACTGTGTAATATGACATCTCATCTCATAACTGCTGCATTCTGGGTGAACGTTTTATTTCATTTTCTACTCTATTTCATCTAATTTCTTGAGGGCATCAATTTGGGATCTGCTTCAGAACTCTTTTACTTTATAATAAGTGATATTCTGATTCTCTTTTCTTTCTATGCAGTATACAGTATATCTACCTGCATGTAAATGCTCTTTCTAAATGTGAATGTAAATGTTATTATGTCATTTTTAGGGTCCACCAGGGAAGTTTTTGGGTCTAGAGGAAGGCAGCGCCGACTTTCAGGTAAGAACAAACTACAATGTGTCACGGCTTTCGAGCATTTTCTACAAAAAAAAAAAAAAAAAACATTTAAAAAGGCTGAAAATGGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8661
Status:
Mutation detected in F1 DNA
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
ENSDART00000033037 Essential Splice Site 281 690 19 35
ENSDART00000035093 Essential Splice Site 282 691 16 32

The following transcripts of ENSDARG00000024492 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 19 (position 39996356)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 38860339
GRCz11 19 38447459
KASP Assay ID:
2261-3585.1 (used for ordering genotyping assays)
KASP Sequence:
AAGAAGGACCCCAAGGACCACCTGGAGAGCCTGGTGACAAAGGAGACATG[G/A]TATGAATCACTAATATTATATACAACTTTTCATCCAGTCATTAWWTTGTC
Long Flanking Sequence:
AACAGGACAGTAATTAATACACCTTCAGCGTATCTATAACTGGACATGGATGGGTTTTGATCCATTTGGTCTGTGGTTATACAATTTTTTATACAGTTTTTGTGTGTGAAATGAGATTTTTAAATTTAGACGTTATCAATTAAACAAGCAACAGCTTAATGTGGATTTAACTCCCCTACAGAATTGTATATGCAGCTTGATTTGCAAAAAACCCCATTACATTCACTTCGATAACATTTGTAGGACAGCAAATCTCCACAGACTTGACTTTGTTTCACAATGTACAAAATTAAAAGTGTTTCACAACTTCTGTGACAGGGACCACAAGGTTATAAAGGAATTTTAGGACCAATCGGCATCCCTGGACGCCCTGTGAGTATTATTAAAAACATTTCATTCTAATAACTGACAAAAACATAAAAAAATAAACATTTACCGCAAAACAGGGTGAAGAAGGACCCCAAGGACCACCTGGAGAGCCTGGTGACAAAGGAGACATG[G/A]TATGAATCACTAATATTATATACAACTTTTCATCCAGTCATTAATTTGTCCTTTCATATGTCAGCTTATCAACTTTTTTGTATCAATCTATGTACTTATAGGGAGAGCGTGGTATCCGAGGGCCTCAGGGAGTGGTCGGAAAGAAGGGAGATAATGTAAGTAAAAAAGGAGCAATTTAAAACACATACTTTAACCGTATGCTCTTAATCTTTTGATTAATGTTCTTTGTCAGGGACTTCCAGGAATTGATGGAAAAGATGGCACTCCTGGCATCCCCGGGATAAAGGTACGAATGGCTCTTATTCAGCTCTTAAATCAAAAACCACTGCAGTCATCATTATTCAAGGAGACACAAGACATATGTAAAGGATGAACCAAAGGAGGAAGTTTTATGTGATTGAGAAGGGGGCTCTTTGAGGATTAATAACCAGTTAACAAGTATTGATTTAACTTGTAATATGACAGCATGGATATTTATTTCATTGTAGAACCGATTAACC
Associated Phenotype:
Not determined