Busch Lab

ZMP

col8a1a

Ensembl ID:
ENSDARG00000077403
ZFIN ID:
ZDB-GENE-070912-274
Description:
collagen, type VIII, alpha 1a [Source:RefSeq peptide;Acc:NP_001135846]
Human Orthologue:
COL8A1
Human Description:
collagen, type VIII, alpha 1 [Source:HGNC Symbol;Acc:2215]
Mouse Orthologue:
Col8a1
Mouse Description:
collagen, type VIII, alpha 1 Gene [Source:MGI Symbol;Acc:MGI:88463]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa6114 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa13665 Nonsense Available for shipment Available now
sa34670 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa6114
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:
A > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000102981 Essential Splice Site 72 711 3 3
Genomic Location (Zv9):
Chromosome 9 (position 31134163)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 30290109
GRCz11 9 30100855
KASP Assay ID:
554-3737.1 (used for ordering genotyping assays)
KASP Sequence:
CCATTAATGACAYATATTTTTATACCTTGTCCTGAATTTKTCTCTTGCAT[A/C]GGTGAGACCATTCCCAGAGGTGAGCAGGGTGTTCAAGGTCAGCCTGGAGC
Long Flanking Sequence:
TGATTATTAATTGGTTGTTTAATTCTTTGTTTTGTTTTCACAGGCCATGGCCATGGCTGCTTTCCTGGTAGCTTTGGTGCAACTGACTTTTTTGCCATTAGCTTTTGGAGGTGGATATTATCCACACAAGTCGCATCCTCAGCAACATCAACCCTTACCACAGATGCACATGGGCATGGGAAAGGAAATGCCACACATGCCATATCCACACTACAGAAAAGATCTACCAATGCACCTTAACAAAGGCAAGGATAACAAAGGTATGAGCACTTATATATATTAGCGCTTATCACATTGTATATAGTATACATTAATATTGTTAGCTTGTTATTATTTTACATTGGACAACAAGGTATGGATATACTTAGTCATTACTGTATCTAATGCACACATTTATTACCTATAAATTTGTTTTACTAATTTGTAAATTTATTTGGTTTTCATTAAATTCCATTAATGACATATATTTTTATACCTTGTCCTGAATTTGTCTCTTGCAT[A/C]GGTGAGACCATTCCCAGAGGTGAGCAGGGTGTTCAAGGTCAGCCTGGAGCTCAAGGGCCTGTTGGTCCTCCTGGGCCCCAAGGACCTCCTGGGCCTCAAGGCAATGGTATCCAAGGCCCTCCTGGAAAGCCAGGACCTCCTGGTCCTCCAGGATATCCTGGAATTGGTAAGCCAGGAATGTCAGGTATGCCTGGTAAAGCAGGAGATCCTGGGCAACCTGGACAACCAGGTGAACAGGGACCCAGAGGTGAAGATGGACAACCAGGCATCGCTGGACCCCCTGGCCCTCCAGGACCCTCTGGCTTGCCAGGAATAGGAAAGCCTGGTGGACAAGGATTACCAGGACAGCCAGGGAATAAAGGAGAGCCAGGACATAAAGGTTTTCCTGGTCTTCCAGGGTTACCTGGACCTAAAGGAGACAGAGGAATTGGACTACCGGGCCCACAAGGACCCAAAGGGCCAGTTGGGCCACCTGGACTTCGAGGGCCAGCTGGATTGCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13665
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000102981 Nonsense 123 711 3 3
Genomic Location (Zv9):
Chromosome 9 (position 31134319)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 30290265
GRCz11 9 30101011
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGTATCCAAGGCCCTCCTGGAAAGCCAGGACCTCCTGGTCCTCCAGGATA[T/A]CCTGGAATTGGTAAGCCAGGAATGTCAGGTATGCCTGGTAAAGCAGGAGA
Long Flanking Sequence:
ACCACAGATGCACATGGGCATGGGAAAGGAAATGCCACACATGCCATATCCACACTACAGAAAAGATCTACCAATGCACCTTAACAAAGGCAAGGATAACAAAGGTATGAGCACTTATATATATTAGCGCTTATCACATTGTATATAGTATACATTAATATTGTTAGCTTGTTATTATTTTACATTGGACAACAAGGTATGGATATACTTAGTCATTACTGTATCTAATGCACACATTTATTACCTATAAATTTGTTTTACTAATTTGTAAATTTATTTGGTTTTCATTAAATTCCATTAATGACATATATTTTTATACCTTGTCCTGAATTTGTCTCTTGCATAGGTGAGACCATTCCCAGAGGTGAGCAGGGTGTTCAAGGTCAGCCTGGAGCTCAAGGGCCTGTTGGTCCTCCTGGGCCCCAAGGACCTCCTGGGCCTCAAGGCAATGGTATCCAAGGCCCTCCTGGAAAGCCAGGACCTCCTGGTCCTCCAGGATA[T/A]CCTGGAATTGGTAAGCCAGGAATGTCAGGTATGCCTGGTAAAGCAGGAGATCCTGGGCAACCTGGACAACCAGGTGAACAGGGACCCAGAGGTGAAGATGGACAACCAGGCATCGCTGGACCCCCTGGCCCTCCAGGACCCTCTGGCTTGCCAGGAATAGGAAAGCCTGGTGGACAAGGATTACCAGGACAGCCAGGGAATAAAGGAGAGCCAGGACATAAAGGTTTTCCTGGTCTTCCAGGGTTACCTGGACCTAAAGGAGACAGAGGAATTGGACTACCGGGCCCACAAGGACCCAAAGGGCCAGTTGGGCCACCTGGACTTCGAGGGCCAGCTGGATTGCCAGGGGTGGGTAAGACTGGCCTTCCTGGCATACCGGGTCCAGCTGGTGTGCCAGGCAAACCTGGAGAGCCTGGCGAGCCAGGCCCAGAGGGTCCACCTGGGGAAAAGGGCCCACAGGGTCCACAAGGGGCACCGGGTATTGGAAGTCCAGGAGAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34670
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000102981 Nonsense 613 711 3 3
Genomic Location (Zv9):
Chromosome 9 (position 31135789)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 30291735
GRCz11 9 30102481
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGCACACCAATAGTGCTTGACAAACTATTGTACAATGGACGTCAGAATTA[C/A]AACCCTCAGACAGGTGTGTTCACCTGTGACCTCCCAGGTGTTTACTATTT
Long Flanking Sequence:
CTACCTGGTCTTAAAGGAGAAACTGGTCCACCTGGTCCTGAAGGACCACGGGGTCCCACAGGCATTCCAGGACTTGCAGGACCAGGAGGACTACTTGGGCCACCTGGACCTCCCGGGCCAAAAGGAGAAGTTGGTCCACCAGGTCAAGCTGGTCAACCTGGTGAAGGCAGCCCTGGAATCCAGGGTCCAGTTGGTCCTCCAGGTCCACCAGGCCCAAATGGATCACCAGGTCAGCCAGGAATCCAAGGTCCACCAGGGCCTCCTGGACCGCCAGGCCCCGCTCCTTCCCCTGATCTAATGGGTGTTCTTCCTGAAATGGGTCCTGCCCTTGATGGTGTGAAAGCTGGCTACAAGAAAGGGAAATATGCAGGTGAGGGTGATATGATGGGTGCCAACGGCCTGGAGATGCCTGCTTTCACTGCCAAACTCACCGCACCATTCCCTCCTGTTGGCACACCAATAGTGCTTGACAAACTATTGTACAATGGACGTCAGAATTA[C/A]AACCCTCAGACAGGTGTGTTCACCTGTGACCTCCCAGGTGTTTACTATTTTGCATATCATGTGCACTGCAAGGGTGCAAATGTATGGGTTGGGCTCTACAGAAATGGAGAACCGGTTATGTATACATATGATGAGTACAAAAAGGGATTCCTTGATCAAGCATCTGGGAGTGCTGTGATTCCTTTACAACCAGGAGACACAGTCTATTTACAATTACCATCTGACCAGGCGGCTGGATTTTATGCAGGACAATTTGTCCACTCCTCCTTCTCCGGGTTTTTACTTTACCCAATGTAAATAGCAAGAATAAGTAAGAATTTGAAGGAAAAATAAAGAAGAAAGGACTGACATTCAAATGTTTGACTTTTAAAAAATGTCTGAATTTTTAAGTATGTGCTCACAGGAAAGAAAGAAGACTTATTGAAAAAGCTCATTTAAAGATCCCAATAATATCAGTCAATATCTACAGACTGTGTGGGTATATGCAATGCTAAATGACA
Associated Phenotype:
Not determined