ZMP

col4a6

Ensembl ID:

ENSDARG00000052061

ZFIN ID:

ZDB-GENE-101001-2

Description:

Type IV collagen alpha 6 chain [Source:UniProtKB/TrEMBL;Acc:Q4TZW7]

Human Orthologue:

COL4A6

Human Description:

collagen, type IV, alpha 6 [Source:HGNC Symbol;Acc:2208]

Mouse Orthologue:

Col4a6

Mouse Description:

collagen, type IV, alpha 6 Gene [Source:MGI Symbol;Acc:MGI:2152695]

Alleles

There are 5 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa34180	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa7085	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa41015	Nonsense	Mutation detected in F1 DNA	Not yet available
sa41014	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa34180

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 > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000121574	Essential Splice Site	4	1666	1	44

Genomic Location (Zv9):

Chromosome 7 (position 52557306)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	7	50827056
GRCz11	7	51102126

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AGCCTACTTTACCTGCTGTTTCCTCAAAGCTTTGCAAAATGAGACTTTGG[T/C]AAGTTTATCATATCTTCAGATGTCATTTTTAGCTATTAGAAGTTGTTGGG

Long Flanking Sequence:

TTATGACAGATGCACTACATTAATGCTATTTTAGTTTACACTAGTAGCACGCTGTTTACTGATGAGATTGTGGTTATCTGTTTGTTTGAAGCCGACGCGTGAGTGTGGGTGATTGACGGCTGAAGCCCCGCCCTCTCTTCTCCTCTCAGAGCACAGCGCGCACTGGTGCTGCAGCGGTGCGTGAATCTATTCTGCCGCGAGGAGAGCGTTTTTCAGCACAGAAGTTTCTTGTGAGTCAGCTTCTCTTATTCTCAGAGGACAAACTGCAGCCAAAACTGCATAGAAAAAGTGTAGAATGTGCATTTATGTGTATTTAGCTCTCTAATTTGATTGTTTATGTTTATCCTTATCTCACTTCTTGTTCTCCGAAGTGGTCGAACCGCTCACCGGATTCTCAAATGAATAGGTCTGAAGCCATTAACCGAGGCTCACTGTGAAGACGAGGAGGATAGCCTACTTTACCTGCTGTTTCCTCAAAGCTTTGCAAAATGAGACTTTGG[T/C]AAGTTTATCATATCTTCAGATGTCATTTTTAGCTATTAGAAGTTGTTGGGAGTTCATACACATGAGCGTTAAACAATCAACTGTCATTTTAGTTAGCCGAGTCACACGAAGTGCTGTATTTTCAATCAGCACATGTGAGAAATTTGTTTATCTCTCCTTAGGAGTTTTGTGTTACCCTTTGTCTTGTATGCGGTGTCTGCACAGGGGGTAAGTAATCTATCTAATATTTAAAATACTAAACACTTGCCGATTATAACTTTTGCCTGTTTAATTATACATTGTATATGATAATTTGTTGGTTATTTAATCGCAACTCTTAGTAAAACAGGTTACACCTGGCGCATCATGTTTGTGTTCATTTATCAAAACACGTTTGGGTGTAATTTATCAGACACCTGTCTAATTTACAAACTGTGAAGTTCTGTTGACTATTTGTGGCAAAATATTTTGTCATCATTTTACAAGTTTTCGTTGAGAAGCTAATATTTAGCTTTACATTA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa7085

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
ENSDART00000121574	Essential Splice Site	90	1666	4	44

Genomic Location (Zv9):

Chromosome 7 (position 52431370)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	7	50701120
GRCz11	7	50976190

KASP Assay ID:

554-4354.1 (used for ordering genotyping assays)

KASP Sequence:

AGCAGGGCCATATAGGACGTAAAGGTCCTCCTGGACAAAATGGAGATAAG[G/A]TCAGCTTACTGTGGCACATGYGTGGACTTCTATTGCAGATTTMATTTTYT

Long Flanking Sequence:

AATAAAATAAACATTTAACTTTTTTTATAATTAATAAATGCCGCCTTGATGAAAATAATAATTTTATATAAATTATTAAAGAAAATTAATAAATAAAAAGACAAAATAAATATTACAGATTATGTAACTTTGTTTTTTTTCATGCATCAATTTAATCTGATTTTACCTAAGAACTCTCAAACTGAGTCAGATCAAGACAAATATCTGCAATGTTGGACAAGAAGTTTAAGATAAAATCTAATCTTTTTTTTTAAAGGATTTGTGCTTTATTTAGATTTTTGTGTTTTATTTCACAGATGCTGTTTTATAAACTGTATTAAAAAGTGACTCATTGATACCTTCTATCTATCTTTCTCACCATCTAGGGGCAACCAGGAGAACTTGGACCAGTGGGCAGCGGTGGTCCTGAGGGTTTCTATGGGGGCCCGGGACCAGTTGGGCCAAAAGCAGAGCAGGGCCATATAGGACGTAAAGGTCCTCCTGGACAAAATGGAGATAAG[G/A]TCAGCTTACTGTGGCACATGTGTGGACTTCTATTGCAGATTTCATTTTTTATTTACTGAAAAATGACAGAATGTAATGGAATGTTTACGTTTGCACATGCATGTTAGATCCAAATACAGGAATCAGTGTGATGCACATATAATACTAGAAAAGGCCTTTTCATGTGTTTTACATATTTTCTGACAGGGTCCAATGGGTGTTCCTGGTTATCCCGGTAATGATGGTGTTCCTGTAAGTATATAACTGTTTTATATACTGTTTTATATATATATATATATATATATATATATATATATATATATATATATATACAACTACATTAGTATAGAACTACATTAACTGTCTTAATGTAGTTTCACTCTTCTCTGAAAATTATTAATTAAGCTTTTTTTCAACGTGTTTTACAGGGACACCCTGGTCAGGAGGGGCCCAGGGGGCCTCCAGGTCTGGATGGGTGTAATGGCACACAAGGGGACACTGGTTACAGCGGCCTTGATGGG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa41015

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
ENSDART00000121574	Nonsense	122	1666	6	44

Genomic Location (Zv9):

Chromosome 7 (position 52430912)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	7	50700662
GRCz11	7	50975732

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GGACACCCTGGTCAGGAGGGGCCCAGGGGGCCTCCAGGTCTGGATGGGTG[T/A]AATGGCACACAAGGGGACACTGGTTACAGCGGCCTTGATGGGTATTCTGG

Long Flanking Sequence:

CATATAGGACGTAAAGGTCCTCCTGGACAAAATGGAGATAAGGTCAGCTTACTGTGGCACATGTGTGGACTTCTATTGCAGATTTCATTTTTTATTTACTGAAAAATGACAGAATGTAATGGAATGTTTACGTTTGCACATGCATGTTAGATCCAAATACAGGAATCAGTGTGATGCACATATAATACTAGAAAAGGCCTTTTCATGTGTTTTACATATTTTCTGACAGGGTCCAATGGGTGTTCCTGGTTATCCCGGTAATGATGGTGTTCCTGTAAGTATATAACTGTTTTATATACTGTTTTATATATATATATATATATATATATATATATATATATATATATATATATACAACTACATTAGTATAGAACTACATTAACTGTCTTAATGTAGTTTCACTCTTCTCTGAAAATTATTAATTAAGCTTTTTTTCAACGTGTTTTACAGGGACACCCTGGTCAGGAGGGGCCCAGGGGGCCTCCAGGTCTGGATGGGTG[T/A]AATGGCACACAAGGGGACACTGGTTACAGCGGCCTTGATGGGTATTCTGGTATTCCTGGTTCTCCTGTAAGTTATAGGCTATGTTTGCATTTGAAGAACATTTCTGAATAATCAATATTAATAATAGTTGCAGGTTCAAATGATAAAATAGAAATTAACTTCTCTGTTTTTATAGCAAAAATGGAAAATACGTTTTCGGATCACATGTGTTTTTATTTAAAGAGGCCCTATTATGCATTAAAAAGATCATACTTTGGTTTTGGGGGTCTCCAACAACAGGCTGATATGCATGCAAGGTCAAAAACACTTTCATTGTCTTATAATATGCATTTATTTTTACCTAATTACCACAACAACTCCCATATGACTCAGCGATTCATTTGCTCCCAAAGCCCTCCTCAGCACAATGCTATGCGCTGGTTGGTGTGATGAACCAGTCTGTTGCGATTAGCTAACTGCTTTCAGCATGAGACAGAGAAAAATGCCCAGCAAGAAGTCAG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa41014

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 > G

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000121574	Essential Splice Site	1024	1666	31	44

Genomic Location (Zv9):

Chromosome 7 (position 52388683)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	7	50658433
GRCz11	7	50933503

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

ACATGGATCTTGTTTGTTGTATTTTTATATTTTATGTTGTTCTTATCTGT[A/G]GGGTGATAATGGTGTCCCTGGGGTTCCTGGGTTCCCGGGTGCTCAAGGAC

Long Flanking Sequence:

CTCCTGGACGTCCAGGATTTCCAGGACCACCTGGCTTTGCAGACCAGGCAAAGGGTTTACCTGGCCAGCCTGGAATCCCAGGTGTTCCTGGTTCATCTGGCTTCCCTGGACCCAAAGGCTTTCCTGGAGTTATGGGCTTCCCTGGCTTTTCAGGTGTGAAGGTAAGCATTCTGTATTCAGACACAGCACAGTATACTATGGATTCATCACATCTGATACTGGTATCATCATCAGGTTCAATCTAGTTGTCATAATTTGTACTTACGTGCTATGTATATAGGGACACTGTTTAGAAATAATAACATTTTGTATACGATATGCCTGATTGTCATAGAAATAATGTTAGAAACCTTTAATTTCCTTTAAATATCTAAATATTTGTTGTTATTATTATTATTTGTTTGATTGATATGTAATCTGGACAAGTTCTTGACCGAGTGTGAAGTTAGCACATGGATCTTGTTTGTTGTATTTTTATATTTTATGTTGTTCTTATCTGT[A/G]GGGTGATAATGGTGTCCCTGGGGTTCCTGGGTTCCCGGGTGCTCAAGGACCACCTGGTGCCAAAGGTGAGATTTCTGTAAATCTGTGTTTATTTCTGACCTCAACTGTATGGCAAAAGATTTCAATAGAAGGCTAAAGGCAGCTATAACTGGTCTCACGGTTCGGTACGGATTATCATGCCATCGATTTGGTTCAATTCGATATCGCGGTGCATCGCGGTACATAAACGATGCTTTCCATACACAGTGTTGTACTTTAGGGGGAGGCTTTAACAAGCTGTCGCTATAAACACACACACACATACACACAGCACCACACTGTTTCTCATTCACACACATACACAAACATAGACAGCACCAAACAAATACACGCACACACACACACACACGAAATGCACGCTTGCTTGCTTGCTCGCTCGCTTGGGAGCGATATTGTGTGGGGCCGCCCACTCCTGTTAAAATTACACCAGAGTTACTGACCGCTCTCACACTTTATTCGGA

Associated Phenotype:

Not determined