ZMP

NP_001177685.1

Ensembl ID:

ENSDARG00000017360

Description:

collagen type V alpha-3a [Source:RefSeq peptide;Acc:NP_001177685]

Human Orthologue:

COL5A3

Human Description:

collagen, type V, alpha 3 [Source:HGNC Symbol;Acc:14864]

Mouse Orthologue:

Col5a3

Mouse Description:

collagen, type V, alpha 3 Gene [Source:MGI Symbol;Acc:MGI:1858212]

Alleles

There are 6 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa26152	Nonsense	Mutation detected in F1 DNA	Not yet available
sa40170	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa20148	Essential Splice Site	Available for shipment	Available now
sa45158	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa26152

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 > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000022993	Nonsense	603	1535	29	62

Genomic Location (Zv9):

Chromosome 3 (position 54743712)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	3	53638054
GRCz11	3	53892717

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GCATGTTTTGTATTTGTTGTTTGCAGGGTGCACGTGGGGGAAGAGGAGCA[C/T]GAGGTCCAACAGGGAAGCCTGGAGCCAAGGTAAGAAATCCATCCTTATAC

Long Flanking Sequence:

ATTTGGCTTATTTATGGTAATGGGACTTTAGAGGTTAATTTGTGGTTAATTAAATGTAGAGGTTGATTAATGAATGGAATGTGGTAATTGATTAACCTTCGTGATGGTCCACAGGGATCAGTGGGCTTTCCTGGAACAGCTGGGTTGGAAGGAGAGAAAGGAAAGAGGGTGAGAGGCCAGTGCCGAAGCACACTGTCCGAGGGATTACTTACAAACATACTGTTGAATCATTGCATTTGTGTTTCATTTTTAATATGTTTTCTTTACAGGGACCTGCTGGACAGGCTGGTGCAGATGGTGAAAGAGGTCCAAATGTAAGTCATAAGCTTGCTAGTAAAATAAAAGACCTCAGTGGTTTTACTACATACACATGCAAGGTTTAATGATGAAACAGCCAATAATAATTGATTGGACAATTAGTTTAATCATGCATACTTTATAAGCATATTTGCATGTTTTGTATTTGTTGTTTGCAGGGTGCACGTGGGGGAAGAGGAGCA[C/T]GAGGTCCAACAGGGAAGCCTGGAGCCAAGGTAAGAAATCCATCCTTATACAGATAAAGATCCTGTAGTATCCTTGTAAATAGGCTGCACTGTCTGTGTTTAAATTCATGTGACGTCTCTTTCTTTGTCTTTTGCTCAGGGCTCTGCTGGTCATGACGGCCCACCAGGTGCCACAGGAGAGAGAGTATGTGTTATCTATTACAATTCTCCTCATATCACACGGTCAATCTACCAGACTAATGTGAGATTTCACATTTCTTTTCATTGCTGGAGATAAATGAATAATCGCGTTACTTACTCTCACCTTCAGGGCCCTCAAGGACCGCAAGGGCGCAATGGAGAGGCTGGGCCAAAGGGACCAAATGTAAGTGACCATAAAATAAAATAAATTCTTTTGAGGGAGTGAAGGAATATATCTTAGTTTTTTTGTTCTTTCTTTTCAGGGCCCTCCTGGAAAAGATGGGTTGCCTGGTCACCCAGGTCAACGAGGAGAGCCAGTGA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa40170

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 > T

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000022993	Essential Splice Site	682	1535	34	62

Genomic Location (Zv9):

Chromosome 3 (position 54746273)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	3	53640179
GRCz11	3	53894842

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TAACATTTTTGAGCTGGTTTAATAAAGCTCTCTAAATGATCTCTTATTCC[A/T]GGGCAAAACTGGGGAGACTGGACCCACCGGTGACAGGGGCCACCCAGGTG

Long Flanking Sequence:

GTTTATGAGCCATAATCAAGAAGGCGCGACCTCCTTTAGTAGCAATGATGACGTTTTTCATTTAATGGCTCAAAAATGCTTGTAAGTGCCACTTTGTGCCATCAGTACCAAGCTAGAGTAGTCCAGACAACCTATGCAGCAGCACCCAAGTGTGCGAAAAAAAAGGACTGAAGTATGCCTATAGGGGACTTTTTTAACTAACTAAATTAATTTACATAATTTGAAATACTGAAAACGAGATCTGATTTTATGAACAGTGGAAAAGCAATTCTGCAAAATAATTTCTGTTGGATTTATATAAAAATTACTTTTTCATACAGGGATTTCAAGGAAAGACTGGTCCCCCTGGGCCCGCAGGAGTGGTTGGACCACAGGTGGGTCAATCATACAGGCTTGGACGAACATTGCCTTTCTGGTTGCATGGTCTTCATTCACTCCTATGAAGCTATGTAACATTTTTGAGCTGGTTTAATAAAGCTCTCTAAATGATCTCTTATTCC[A/T]GGGCAAAACTGGGGAGACTGGACCCACCGGTGACAGGGGCCACCCAGGTGCCCCAGGACCTCCTGGAGAGCAAGGTCTGCCAGGAGCTGCAGGCAAAGAAGGGACCAAGGTTAGATATCAGCATTAAAATCATCATCATCATCATCATGAAACACACCAAACACATTCATCTAGTTATAACTTACATTGCTGATTACAAGCCATATGTTTCTGCTCATTCAATATGAATAGAGCTCCCAGCATGGCCCAGCGCCTATAAAGAGTGATGGATGACTGTTAATGAGTGAGAGAGTTGTGGAAACAGAGATCCATCTTTCTGTGTTCTCTGGTCTCCAGGGAGATCCAGGCCCCGCAGGGCAGCCCGGGAAGAGTGGTCCTGCTGGGCGACGTGGATTCAGAGGAGAAAGAGGCTTACCTGGCATTCTGGTAACACACCTCAAAGCATCTGAGAGAATATCTTCTTATAATCTCCGCTGTGATGGATGCTGCCTTTACATAAC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa20148

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:

A > G

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000022993	Essential Splice Site	718	1535	35	62

Genomic Location (Zv9):

Chromosome 3 (position 54746608)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	3	53640513
GRCz11	3	53895176

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TGAGAGAGTTGTGGAAACAGAGATCCATCTTTCTGTGTTCTCTGGTCTCC[A/G]GGGAGATCCAGGCCCCGCAGGGCAGCCCGGGAAGAGTGGTCCTGCTGGGC

Long Flanking Sequence:

ACTGGTCCCCCTGGGCCCGCAGGAGTGGTTGGACCACAGGTGGGTCAATCATACAGGCTTGGACGAACATTGCCTTTCTGGTTGCATGGTCTTCATTCACTCCTATGAAGCTATGTAACATTTTTGAGCTGGTTTAATAAAGCTCTCTAAATGATCTCTTATTCCAGGGCAAAACTGGGGAGACTGGACCCACCGGTGACAGGGGCCACCCAGGTGCCCCAGGACCTCCTGGAGAGCAAGGTCTGCCAGGAGCTGCAGGCAAAGAAGGGACCAAGGTTAGATATCAGCATTAAAATCATCATCATCATCATCATGAAACACACCAAACACATTCATCTAGTTATAACTTACATTGCTGATTACAAGCCATATGTTTCTGCTCATTCAATATGAATAGAGCTCCCAGCATGGCCCAGCGCCTATAAAGAGTGATGGATGACTGTTAATGAGTGAGAGAGTTGTGGAAACAGAGATCCATCTTTCTGTGTTCTCTGGTCTCC[A/G]GGGAGATCCAGGCCCCGCAGGGCAGCCCGGGAAGAGTGGTCCTGCTGGGCGACGTGGATTCAGAGGAGAAAGAGGCTTACCTGGCATTCTGGTAACACACCTCAAAGCATCTGAGAGAATATCTTCTTATAATCTCCGCTGTGATGGATGCTGCCTTTACATAACCGTTAACTGTTCCAATATGAAAGCTGACTTTGTGCAAAAAAGGCAGATTGTGGTTGTATGATTTTTTAGCATGGATCCTTATATTTTTTTTCTTATTTTTGTGCATTAATAGGGCTCTTCTGGTCTGAAGGGTGGAGAGGGCCCCCTTGGTGTTGCAGGGCCAATTGTAAATGATTTTTCTATTGTCTTACACATTTTCCTGTTTGTATGGTTTAAAATATAGTTCACTTTACTAAAATGTTCTGCACAGGGTGCCACCGGAGAGAGGGGATCCTCTGGACCTGCTGGTGCCATTGGCCAGCCTGGTCGTCAGGGGGGTGTCGGCCCTGCTGGGC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa45158

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 > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000022993	Nonsense	1264	1535	58	62

Genomic Location (Zv9):

Chromosome 3 (position 54755502)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	3	53649408
GRCz11	3	53904071

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CTCCAGCCGCTATGATTGAGCCACTGCCAATCAGAGAGGGGCGCAAAAAG[C/T]GAAGGAGACACTCAAATCGACAAGGATCCGAGTCCAGGGCAGAGGCTGAG

Long Flanking Sequence:

AGGTGAGAAAGGATCTAAAGGAGACCAGGTTGGTATATATTTATATATATATATTTTCTTTGCAATCTTATTTTTCAGCCTCTCTCTGTCTATATGCTATTTGTTTGTTCTGATCTGAGCTCTCGCCTCTCTTATGAAACCTGAGTGAAATATATTGGCAGTGCTTGAGTTGTATCCTGCTGCTCCAACTTGGATAATCCCTCTGAACGAATCGCCATATGAAGCGCTGAGTTGGCAGGTGCCTTTGAGGGATGTGCCAAGTTTCGGGATGCCTGACTAAACTGTTTATGTTTCTCTCCCCTGAAAGGGAGCCATTGGTGCAAGAGGAGATACAGGACCTGCTGGGCCACCTGGACCACCTGTGAGCCATCATAAAGTCTCCTTACTTTTCCGTCCATTACTTTTTACCTTGTCTCCTCATATCTCCCATCACTCCATTTCATCAGGGCCCTCCAGCCGCTATGATTGAGCCACTGCCAATCAGAGAGGGGCGCAAAAAG[C/T]GAAGGAGACACTCAAATCGACAAGGATCCGAGTCCAGGGCAGAGGCTGAGGAAGAGGAAGCGGTTCAGCTCAACATGGAGGATTTCCTACAGGCAGATGAAGCTCTGGATGAGCCGGAAGGCATGGAGGAGGTGTTCGCTTCACTCAACTCAATGAAAACAGAGGTGGAGCTCATGAGGAAACCTCTCGGGACCTTTGAGAGTCCTGCCCGCACATGCAAGGAGCTGATGTTGTGTCACCCCGATTATAAAGACGGTGAGCGAATTTACACACATTTCCCTACAGCTAATGCAATGCTTTCATAGGGGGGATTCACTTAGAATGCCTGCTGATTGTGCCTGTGCTGGTTTATTTGCATACGCTGTCTGTTCACTAAAGGAATTATGCAGATCTAAGCTGAATGGAATTTGCACAATGCAATTCACCATCTTGCAGGCCAGTAATGAGGGTTTGGTTGTGGAAGACGCTATAGACTACCACTGTATGACAAACTTTCTTGA

Associated Phenotype:

Not determined