Busch Lab

ZMP

col4a2

Ensembl ID:
ENSDARG00000020781
ZFIN ID:
ZDB-GENE-070725-3
Description:
Type IV collagen alpha 2 chain [Source:UniProtKB/TrEMBL;Acc:Q58FS6]
Human Orthologue:
COL4A2
Human Description:
collagen, type IV, alpha 2 [Source:HGNC Symbol;Acc:2203]
Mouse Orthologue:
Col4a2
Mouse Description:
collagen, type IV, alpha 2 Gene [Source:MGI Symbol;Acc:MGI:88455]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa41358 Nonsense Mutation detected in F1 DNA Not yet available
sa4351 Missense F2 line generated Not yet available
sa34561 Nonsense Mutation detected in F1 DNA Not yet available
sa18379 Essential Splice Site Available for shipment Available now
sa21438 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa41358
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011757 None None 1037 None 22
ENSDART00000081513 Nonsense 19 1697 2 48
Genomic Location (Zv9):
Chromosome 9 (position 8773150)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 8752993
GRCz11 9 8731323
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACATATTAATGCACATTTTTTTCTCATATTGCAGGTGTTTTCTGTTGTG[T/A]CTTGTAGTCCTTATCCTTACGACAGATGTCAACGCAGTAAGTGTGCATTT
Long Flanking Sequence:
ACATTAGCAGAGTGTGTCATGTTAGGGTAACATGTTAGCTTGTTTTTGTTTGCTTGGTAAACTGGTTTTAATATTGATCGGTGTATGTACGCAGTCAGTTCGAGAATAAAATTCTTGGGTCATTACGGTATTTTAAGCTAATGGAAGGTTGGAATATCTAGTTACCATGTTTAAAACACATCTAAAAAAACTAGTTGGATATTTCAGCTACGCTTGATGCAGTGCTTAATATATTTTCCATATGGGCTTTAAACTGCAAGAACTAACTTAAGCCAATTTGTAACCTACAGATCATTGAGTATGCAGTAACAGGACACTGGCATTTGGGCTGAAGGAGAGATTTCATCTGTTTTTAGGCTCGCATGGAGGGTGAGAATCATCTGCAGCACTGGAACACATTAAGGTAAATCCTGTTGTTTGCTACTTTGTTGTAGAACACACACGTTTGCACACATATTAATGCACATTTTTTTCTCATATTGCAGGTGTTTTCTGTTGTG[T/A]CTTGTAGTCCTTATCCTTACGACAGATGTCAACGCAGTAAGTGTGCATTTATTTCACTGTATAAATTGTGGAAGATTAAATCCAAAGATTAAACTGTGATTTGTGCTTCATTTATGGTGCAAGACACTTTAACCAAACCCCTTCAGATGAGTGGGAGTGTCCTTGTTTGTATTACAAGTTCCTCATGTGCAATTCACAAGTGCACTGATCTTCCCATGGGCATATTGCTTCAATTAAAAGACATGCACAAGGCTTAAATGCGACCATTTGACACTGGTGAAGTCCCACATCAATTAGGTATGGTTTGTTAGTGGTAAAATAACCAACTGGTGTTCCACAGTGAATGGTTTGAGGTTAATGAAGAAAACTTGTTTAGAGTCTGTGAGTGGCTATGAGTGAATACTCACAAACTGACACTTAATAGTAAAACAATTGTCTGTGTGAAAGCAAAAGTAAGATATTAATTATACTGTGTAAAATACATGTGTGCTTATTTACTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa4351
Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Missense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011757 None None 1037 None 22
ENSDART00000081513 Missense 107 1697 5 48
Genomic Location (Zv9):
Chromosome 9 (position 8892460)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 8858303
GRCz11 9 8836633
KASP Assay ID:
554-2430.1 (used for ordering genotyping assays)
KASP Sequence:
ACTTGGCCCCCAGGGTCCCACAGGCCCTAAAGGGCGACAGGGAGAGCCTG[G/A]CCTTCAGGGCCCTAAAGGAATGAAGGGAGAGCATGGCGAAGCAGGCTTYG
Long Flanking Sequence:
CCCCACAGTCCAAAGACATGTGGTACAGGTGTATTGGGTAGGCTAAATTGTCCATAGTGTATGAGTGTGTTTGTGTGGATGTCTCCCAGAGATGGGTTGCGGCTGGAAGGGCATCCGCTGCGTAAAAACTTGCTGGATAAGTTGGCGGTTCATTCCGTTGTGGCGACCCTGGATTAATATAGGGACTAAGCTGACAAGAAAATGAATGAATGAATGATGACAGTAAATAATGTTTTACTAGATATTTTTCAGGACACTTCTATAAAGCTTAGGGGGCTAATAATTCTGACTTCAACTGTACTTATATATTAAGATGTGGTGTTAAGTGTACATGTCTACTGTAAGTTTATTGCCATGGTCTAAACCCCCATGAACCCTCATTCTGATTTAAATATGTATGCAATTGCATCTAATTCTTTAACTTTTCTTTATGTAGGGATTGCCTGGACCACTTGGCCCCCAGGGTCCCACAGGCCCTAAAGGGCGACAGGGAGAGCCTG[G/A]CCTTCAGGGCCCTAAAGGAATGAAGGGAGAGCATGGCGAAGCAGGCTTCGTGGGTCCAAAAGGAAGTGTGGTGAGTTTCTCTGTTCTGTTTTCTTCTTTGTCTTTAAAGACTTACTAAATACTGTTTAAAATAAAGCAAATAGCCCCTTTTCACAATACCTGATATTCGCATATGTGACATCCTTTTGGTAGTCTCAAGTTCGCAGCAATCTCTCAATTTGCCCCGTTTATTTTTGACCACCTTAAAATAAATAAATAATAATTGTATAAATATATCTATATTAGTAAGCGACCACCATTGTAGTAAGAAAACAATGCAAATATTAATAAAAAACGAATAATACAAATCACTATTCATTTCTGGCAAATATTCTGACCAAAACAGTTTTACATAAATGGATTTTAAAAAATACTATTTGGTGTATAAATATTCTGTGGTGGTTACATTGCAAACAGTCGAATAAATGAAAAAAAAAAGAGAGTAAAGTATATGAAACAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34561
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011757 None None 1037 None 22
ENSDART00000081513 Nonsense 288 1697 14 48
Genomic Location (Zv9):
Chromosome 9 (position 8896422)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 8862231
GRCz11 9 8840561
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAATCTCTCTGATTTCTGTCTCCTTTATTTTTTGGGGTTGTCAACAGGGT[G/T]AAAAAGGAAAAATGGGTTCTAAAGGAGATAAGGGAGATTTGGTAAGTGAC
Long Flanking Sequence:
TTTATTTATTTATTTAGGGTCCTCAAGGTCTGAAAGGTGCCAAGGGACAAAAGGTAATAAAACACGACATTTAGCTTTATGAGAACGCTATCGAATTTACCCTGTTTAATAAGCAATCATCTTTAAAAAATCTTTGTATGATCTTTTGATGTTAATGTATATCCGCCACCTCTGTACAGGGTGAAAGAACTAAAATCTTAAAAGGAGTCAAAGGAGAATTGGTGAGGAATTGTTTAATGGCTTATACATCATCATGTCAGGCTCTTATTATGGTTTGTTATCTACACTTTTAACCTATACTCGCATACTCACTCAGGGAGAAATTGGAGAGCCAGGCCCACCAGGAGTTTTCTCGCAAACCAGCCCAATCCCTTCAGACTGGCAGGCAGGACGAACACTATTCAATACATATAGAAATTAGTTTTTCTTTTATAAATGTGATATACATGATAATCTCTCTGATTTCTGTCTCCTTTATTTTTTGGGGTTGTCAACAGGGT[G/T]AAAAAGGAAAAATGGGTTCTAAAGGAGATAAGGGAGATTTGGTAAGTGACATTTGAACTTTTGTTGATTACAAAGATGTTTTTTTCTTCCTTTCCTTCAATAAATGTAAATGTGCCGTCTTCATGTTTCATAGCCAGAGACAATACAGAAAAGACAATCTTAATGCTGCATATAGTCATTTTTGTCACGAAAGCTAAACATAGCCTATAAACAACTACATCGCAAGATTAAAAATAATAAGTCCCCAAATAATATTCAAAAGCTGTGGAAGTGGAACGCTTTCAGATGAAATTGGGGGAAAAGTGAAGATATCCCATGTTTGTGTTTTGGATACACCATGAAAACATTTTTGTTTTTAATTGTTTCAGGGATATTTATCCACAAAAGCAGAGAGCGGCGTGTCAGGGTTTGCAGGAGCTCGGGTATGATTTTTAAAACTTATAACCCTTTATATAAGCGAAATGCAAAGCAAACCTAATAAAAATCCAATATTGTTAACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18379
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011757 None None 1037 None 22
ENSDART00000081513 Essential Splice Site 524 1697 22 48
Genomic Location (Zv9):
Chromosome 9 (position 8901869)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 8867678
GRCz11 9 8846008
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCAGGGTGATCAGGGAGATCCAGGARCCAAAGGTSCCAATGGTTTGCCTG[T/C]AAGTTGCCAACAYCACATCTTGTTGTCACACGGYTTAWGAAAATCTTTGC
Long Flanking Sequence:
TTTTTAATTAGTCTTCAATCATGTTAATAGTTGATCTGAGGTAAAATGAGCAGACACCTATGGAAGAGAGACATCAATACTAAGTATTATAACATACTTAAGACTTAAAGACTTTCAATGTGTCTTAATACAGTGGAAGAGTACTTCAAAGGTTCTCCTGGACACCGTGGACGTCCAGGGAGTGCAGGAAAAAAGGGGCCAAAGGGTAAGCTAAGTGCATATAAAATTGCTTTAGGATTTTTAAATACTTGCTAATGCATAGGACTATGAGAAGAACCTTTGTCCGTTTTTGTTAGTATTGTTTTACTGGTTTTAACAGTTTTTTTGTTTTGTTTTTACCACTTGCTTAGGTGACCATGGTCTGTGCGAATGCAGTGTAAAACCCCCACCTGGTCCCCCGGGACCTCCTGGTGATTCTGGGGATCCTGGGATGGCAGGTGAGTGGGGTCAGCAGGGTGATCAGGGAGATCCAGGAACCAAAGGTGCCAATGGTTTGCCTG[T/C]AAGTTGCCAACACCACATCTTGTTGTCACACGGCTTATGAAAATCTTTGCACTTGCCAAAGCAAAATGCAATTTTACAGGGTTTTCCTGGCACAGAAGGATTACCTGGGCCCAAAGGCAGAAAAGGAGAGCTTATGGAAGCTGTGCAGAAAGGTGCAGTATTCATCTATAGCGTGTTTAGATAATACAAGAGGTCATATACAACTATATGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGCACTTTGGAACTACAGGATCAGCTGGTGACCCAGGAGACCCAGGTCACAGTGGTTTCCCTGGAGAACAGGGAAGACCAGGGATAGATGGCAGAGATGGTGAACCAGGTTTTAGAGGGCCTCCTGTAAGTATTAGATCTAATTAAAAGACTAATTTCTTGAGTGTGGTGATTCCACTATTAATCACACTTTAATTTTTCTACTGGACAATTGCAAATTGTGCAAAATGAAAACAAAGGTGACTTAAAGGTCACTTTAAAAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21438
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
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011757 Nonsense 422 1037 10 22
ENSDART00000081513 Nonsense 1079 1697 36 48
Genomic Location (Zv9):
Chromosome 9 (position 8922486)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 8887984
GRCz11 9 8866314
KASP Assay ID:
2260-1511.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCCATAAACAAAAAAATGTTTATAAAGGATTCCTTTATTTAAGGTGACT[T/A]GGGGCCTACCATCAGTCTTCCAGGATCAACAGGACTGAGAGGTGAAACTG
Long Flanking Sequence:
TAGCTCCATTTCTGTTTTCTAGAATTCATAATTTTAGACTTATTGTGATTATTTCATTGGACAGTGCATCTGCACAAAACATAATACACACAATACAAGCACATATAAATAGAGTAAAACCAAGACACAAATGAAATAGTGCTTTATGGTTGCCTGGAGATTAAATGCAAATAATTCTGTCACTGTACAATCTTCGTTGTCTAAAAAACTGAATACAATTAATCTTTGTTAAAGCTACAAACATTATAATTCCTTATACACAAATGGTTTAAACCTAAGTTTAAATACTTTCCCTCTGTTAAGGTTAAACTTCGTGATTACTCCACAATTTTTAGAGCACACATTTCAGATCCTGCAAAGTGACTATTGCAAATGCGCACTTTACTTTAACGATGTGTCGTGCAGCCCTAAACCATATCAGATATTAATATTGGATGTAGACTTTCTGAACTCCATAAACAAAAAAATGTTTATAAAGGATTCCTTTATTTAAGGTGACT[T/A]GGGGCCTACCATCAGTCTTCCAGGATCAACAGGACTGAGAGGTGAAACTGGACATCCTGGAAGTACAGGTTAGAAATTTATATATCATGGAATACAACGGACATCATCCAGGACTTGTATTGTACCTTTAATTACGCCTCTTATTTAATATATATCTGATAGGTGCGAAGGGACTCTATGGTATGCCTGGAGAAAGAGGAAGTTCAGGATTAGATGGAATTGAAGGGATGAAAGGCTACCAAGGTGAACCTGGGACAGTTGGACCACCAGGTACGACGCTTCTTCACTAATGTATTTTTATGTGATGACTTTTATGACTATTTTATGTTACTTTGAGAAAACCTTGCTTAGATTTTTAAAATGGGTTTGTAAGCTATAAGTTTCAATTAAAGGATGAAAAAGAGAATGTTGTAAGGATAGTAACACTTTTGCACAATGCTTAGATAAATTAGCATATTAGCTGCATTTTTTAACTACCATGTTAGCTAATGTTTTAGCAT
Associated Phenotype:
Not determined