Busch Lab

ZMP

col6a3

Ensembl ID:
ENSDARG00000077139
ZFIN ID:
ZDB-GENE-070501-8
Description:
Novel protein similar to vertebrate collagen, type VI, alpha 3 (COL6A3) [Source:UniProtKB/TrEMBL;Acc
Human Orthologue:
COL6A3
Human Description:
collagen, type VI, alpha 3 [Source:HGNC Symbol;Acc:2213]
Mouse Orthologue:
Col6a3
Mouse Description:
collagen, type VI, alpha 3 Gene [Source:MGI Symbol;Acc:MGI:88461]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa30917 Nonsense Mutation detected in F1 DNA Not yet available
sa45357 Nonsense Mutation detected in F1 DNA Not yet available
sa34639 Nonsense Mutation detected in F1 DNA Not yet available
sa41416 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa31713 Nonsense Available for shipment Available now
sa27398 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa30917
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
ENSDART00000113176 Nonsense 1161 3107 7 45
ENSDART00000135769 None None 305 None 9
ENSDART00000138754 None None 2027 None 42
ENSDART00000140346 None None 429 None 4
ENSDART00000142446 None None 28 None 2
ENSDART00000145734 None None 320 None 10

The following transcripts of ENSDARG00000077139 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 9 (position 24971227)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 24127013
GRCz11 9 23937882
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGAGCTCAGACAGCCAGGAACTCCAGAGAGTCTCCAATGAGCCTAGTTA[T/A]GCACTGTCAGTGAGAGAATTTAGTGATCTTTCCAACGTCCAACAGAAGCT
Long Flanking Sequence:
TTACCCATAGCTGAGCCCAGGATGGCTAGGAGGGATGTAGTGTTTCTGCTGGATGGTTCAGATGGCACGAGGAGCTCTTTCTCTGCAATGCGAGACTTTGTTGAAAGGATGGTGGAAAGACTGAACGTGTCTGAGAACAGAGACCGTGTCTCTGTGGTCCAGTACAGCAGAGATCCAGAGGCTCATTTCTATCTGAACACATACTCAAGAAAAGAGGACGCTCTTGACACGATCAGGGGTCTGAGGCACAAAGGAGGGAGACCCCTCAACACGGGGGCAGCTCTGCAGTACTTGAGAGACAATGTCTTCACTGCCTCCTCTGGAAGTAGACGTGTAGAAGGTGTTCCTCAGTTGCTGATTCTGCTGAGTGGCACAAGGTCATTTGATAATGTTGACACGCCAGCCTCATCCCTAAAGGAGCTGGGAGTGCTTATCTTTGCGATAGGGTCAAGGAGCTCAGACAGCCAGGAACTCCAGAGAGTCTCCAATGAGCCTAGTTA[T/A]GCACTGTCAGTGAGAGAATTTAGTGATCTTTCCAACGTCCAACAGAAGCTTTTATCAAACATTAACACAGCACTTGTAGAGGTTACATCATTAACTACAACAGTAACAGGTAAGAAGCAATGCTTCCATGATTTTAGTATTTACTTTCCATTTTATTATTATGCTTGAGTTGCATATATGCATATATTGCTGTATATTTTACTTTTTTGCCAAAACCATTAATGTTCCTTAAGGTTTTAGCTTGTTCTGAAGAAATATGATTTATCAATTCAAAAAAGTATTTTTCAAAGATTTGTTAACAACTTTGAACCATAATTCTATATTGGTCCAACATATTTTTTATTGGTTTTCAATAAGTTTCATCATACCACCACCTACCACATCTTAGTAACATGAATAACTAAGTAAGCCTGGTTTCCTTCAAAAATCCTTTGCTATATCATGATGTTGTTTAGCTAGTTTTACATATCTAAGTCAAACTTCAATAAGGATAAGTAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45357
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
ENSDART00000113176 Nonsense 1978 3107 13 45
ENSDART00000135769 None None 305 None 9
ENSDART00000138754 Nonsense 847 2027 7 42
ENSDART00000140346 None None 429 None 4
ENSDART00000142446 None None 28 None 2
ENSDART00000145734 None None 320 None 10

The following transcripts of ENSDARG00000077139 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 9 (position 24964935)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 24120721
GRCz11 9 23931590
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATTTGAGGATGCAGTTCTCTTGGAATATGGCCGTGGATTCAGGTATACA[C/T]GACCACTGCGTGTCAATGTCATGGATTTGGATTATGAGCTTCTGGAAGAA
Long Flanking Sequence:
AGATTCAAGAGTCGGCCTTCAGATACAATCAAGGTATATCCTTTTAATTCAGAACACTTGTTCATGCACTTTTCTAACCATAACATTGTAGGAATTATCTCTCTATACATAGTAATAATTATCTGTACTTAAAAAAATTGTTTTTGCACTCATAAAGGTTGTAATCCACCTAACTGATGGATTAGATGCCCAGTACAACATTCTGAAAGAGCGAACTGAACTGATGCGTTCTGCTGGTAAGAGTAATTACAAATATTAAAAGTAAACATTTGACTAATTTCACTATTTCGTCATGGTATCTGTTTATGTTCAGTATTTCTCTGCTCACCTATACATAATGTTTGTAATTGATTTTGACATCTCACAATACAGTGTATGTTACCACACGCATTTTAATCTTTTTTTAAGGTGTCAGCAGTTTCATTCTTGTTGGTCTTGAGAGAGTGCCACGATTTGAGGATGCAGTTCTCTTGGAATATGGCCGTGGATTCAGGTATACA[C/T]GACCACTGCGTGTCAATGTCATGGATTTGGATTATGAGCTTCTGGAAGAACTGGTAAGAATGGTCCTGTCAAATAAGAATGCTCAGTCAAATAGGCAAAATAACTAATGACTCAATCCACTGAAGAAAAAGGGTGTTAAAATAGGTTAGCCATAATTTTATTGTTCTTATTGAAACTATACATTTAAGTACTGATAAATAATAATTAACTCCATGTACTTACTTTATGGTAAGGATAAGGGTTAGGTTTAGTTGCGTGCCATCATGCAGTCGTAAAAACTTTAGCTTTTTAACAGTGACATTGTAAATCAAAGTGTTACTTTTAAAGTTTTATTTTTTTTTTTTTTAGGATAACATTGCAGAACGGGAATGCTGTTCTGTTCCATGCAAGTGTAATGGCCCGAGAGGGGACAGAGGAGCCGTTGGTGTCCCTGGACAAAAGGTAAAATTCATTCTTACTTTAATAAACAGCATATTTAGGGTCCAATACAGTTTAAAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34639
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113176 Nonsense 2238 3107 26 45
ENSDART00000135769 None None 305 None 9
ENSDART00000138754 Nonsense 1106 2027 20 42
ENSDART00000140346 None None 429 None 4
ENSDART00000142446 None None 28 None 2
ENSDART00000145734 None None 320 None 10

The following transcripts of ENSDARG00000077139 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 9 (position 24960700)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 24116486
GRCz11 9 23927355
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTTTACATATATTAAGGGGCCAGGAGGACAGCCAGGACCTGCTGGAGAA[A/T]AGGGCAGAAGGGGAGCTGTTGGTCGTAAGGTACTGGTCATCTTAAGCAAA
Long Flanking Sequence:
TATTATTGAAAATTAATTTTTGATTTTGTTGACTTTGTTGATGGCCCTGTTGCATCCTTAGGGTGCTGCTGGAAGACCTGGAAGTGATGGTTTAGCAGGAGAACCAGGAATTGGAGGATCTCGGGTAAATAATTTTACTGTGCAAATCAAAAGTCTAGTCCCATGACAGCTTATTCATAAACAAGTCTTGTTCTGTCATGGTTCTGATTAATCTATGCATTTATAATATTTATGTACTATATTTAATCAGATTGTCAATTTGCCACAACCTGTATTTAAAAAGAAAATTTCTATATTGCATAAATAATCTGGATGTGTACTTGTTTTAGGGTCCTGCTGGACCTATCGGAGCACCTGGTGTTAGAGGAGAAGATGGAAACCCTGGTCCAAGGGTAAGAGAAAAAGGCAAATCAAATTAATATTTTCAAAAATTGGCAAATCATTTATTCTATTTTACATATATTAAGGGGCCAGGAGGACAGCCAGGACCTGCTGGAGAA[A/T]AGGGCAGAAGGGGAGCTGTTGGTCGTAAGGTACTGGTCATCTTAAGCAAAGTTTACCAATTCCTTTGCCATACTCCAGTTATCATTGGCAGCTTAAGTGTTTTTTTTAAACATCTCAGTGTCAGTCTGGAGCAAATGTTCTGAGGATTTAAAATCTGGCCACAGGAAATTAACTCAAATTTTTTTTTTTCATTCCATTAGATTGAGAAGTAGTGTGTTCAGTTTCAGCTGTTAAATTTCAACCACTCTAAACCTCTATGTATATCACTATTGATTGCACCTTATATATGTTATTATTTATAAAATTATATTCACTTATTTACACACTGTCAAGGGTGAACCAGGCGAGCCAGGACCTAAAGGTGTTACTGGACCCTTCGGACCCCGTGGGGAGCCTGTAAGTGAGGAGTCACAGTCTGCACCACTCAAAACCAAATATCTTTGATACATGTGCACATTGTAACAGTAATGCAAACAACTTTCATCATTATTATGTGAGGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa41416
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
ENSDART00000113176 Essential Splice Site 2297 3107 29 45
ENSDART00000135769 None None 305 None 9
ENSDART00000138754 Essential Splice Site 1165 2027 23 42
ENSDART00000140346 None None 429 None 4
ENSDART00000142446 None None 28 None 2
ENSDART00000145734 None None 320 None 10

The following transcripts of ENSDARG00000077139 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 9 (position 24959850)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 24115636
GRCz11 9 23926505
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TACTTTTATTGTAGGGTGATGAAGGTTTTCCTGGTTTTCCTGGTCCAAAG[G/A]TGAGGTTACTAATGTTGTTTGCAGCCTTAAGTAAAATGTAATGCTAATAA
Long Flanking Sequence:
CAGGACCTAAAGGTGTTACTGGACCCTTCGGACCCCGTGGGGAGCCTGTAAGTGAGGAGTCACAGTCTGCACCACTCAAAACCAAATATCTTTGATACATGTGCACATTGTAACAGTAATGCAAACAACTTTCATCATTATTATGTGAGGCATTGATGAATAGATTATAAACAATCATAAACAAAACAATTATGAACAATTTCAGGATTAAAACATGCAGCATATTCTTCACTTATCAGACTATGTGCTATATTTATCAGAGAATTAGTCTAGACGAATAGTTAAAACAGAATGCAAATGAAAACAAAGAGCTTTGTGTATACAGGGTGAAGATGGAAGGGATGGGTTTGGTTTTCCTGGTCCCAAGGGAAGAAAGGTGAGCATATATATGTATTTCAAGTATGTAGTTAGTATGTCTTTCTCAAATTGTATTTTACTCTAAATTATTTTTACTTTTATTGTAGGGTGATGAAGGTTTTCCTGGTTTTCCTGGTCCAAAG[G/A]TGAGGTTACTAATGTTGTTTGCAGCCTTAAGTAAAATGTAATGCTAATAATCTAAAGTAAATTTGAATGTGCTCACAAAGCTCTACTGTCCAAAACAATAAAAGTAACTGTTAAATCTGAATTGATTAAAAGGGTGAAGCAGGTGACCCTGGTACAAATGGAGGCCCTGGTCCTAGAGGAAACAATGGCCAGAGGGTAAGAAATCTTGATTAAACAATCTGTTAATATAATTTAGTCCACACCACCATAAATCTCTGATAATATGTCTGCAGGGCACCTCTGGAGTACGTGGTGGTCCTGGACAAAAGGGAGATATCGGATACCCGGGACCATATGTAAGCACCCTGTTTTGACCCGATACATTTTTATGACTTATAAATCTAGCTACAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAATGTTGACTTTGAATTTAGAAGGTGACTATGCACGATTCTGTTCTCTTTTACAGAGTCTATACTTTTCTTTGCAAAGGATTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31713
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 > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113176 Nonsense 2597 3107 37 45
ENSDART00000135769 None None 305 None 9
ENSDART00000138754 Nonsense 1460 2027 31 42
ENSDART00000140346 None None 429 None 4
ENSDART00000142446 None None 28 None 2
ENSDART00000145734 None None 320 None 10

The following transcripts of ENSDARG00000077139 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 9 (position 24956924)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 24112710
GRCz11 9 23923579
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTATATTCCTCCTCGTGGAGTCCGAGACCGAAGAGATCCCACCACTGACT[T/G]AGACATCGACATGGCTTTCATACTTGATAGTTCGGAGAGCACCTGGCCCT
Long Flanking Sequence:
CTACCAAACAAATTTAAAGTGTTTGAACTTGTTTGAAAATGTCATCCACCTGGAAAGGTAAACTGTAATGAACTCTACACAAACTCTACCTGACAGGTTTAATTATTGTTTAGTGAGGTAAATTAAGTAAAACATTTGGCACATTGTTCTGATTTAAGTGTAAAAGAAAGCATACACTAAGTATATTACATTTACTCTGTTTCAGCTTAACAACACTGCATTAGCCCAGATTATTGTCCTGCCCTCACCTGGCAGTGCTGAATACAACAATGTCATCAAGAAGATCATGACCTGCCATATCTGCTTGGGTAAAACACAAAATGAAAAGCCATCAAACTTATTTGTCTAAAACTATGACTCAAACTTTTGAAAACAGCAAAACAGAATGTAACATTTCTTTGGTCATTTATTTCTTTTTTCAGACTTCTGTGCCCCTGATCAGATCTGTGATTATATTCCTCCTCGTGGAGTCCGAGACCGAAGAGATCCCACCACTGACT[T/G]AGACATCGACATGGCTTTCATACTTGATAGTTCGGAGAGCACCTGGCCCTCAGTCTTCACAGAGATCAAGCAATATGTGGCTCTGATGACAGAACAGCTAGTTATGTCCCCTGAGCCAACCAGCACTAGCCACCATGCTCGAGTGGCGCTTGTTCAGCATGCACCTTATGAATACTTGCACAACAGCAGTGGCATTCCCATCAGCGTGGCCTTTGGTTTGACGGATCACAAGTCACCTCACAGTGTCCGCAGCTTCTTAGAGGATAAGGTGCACCAGCTGGAAGGAGGACGGGCACTTGCATCTGCACTTGAGGGCACTGTTGAACATGTGTTTGAGAAGGCACCACATCCTCGCCACTTGAAGGTTTTAGTTCTGTTAGTGACTGGACCAGTTGAATTGTATGAAGACAGGATAGTAAGGGCTGCCACTGAAGTTAAATGCAAAGGCTACTTCATAGTGGTGATGGCGGTTGGAAAGCTGTTCAGTACAGGTGATGTCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa27398
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
ENSDART00000113176 Essential Splice Site 3095 3107 None 45
ENSDART00000135769 None None 305 None 9
ENSDART00000138754 Essential Splice Site 2015 2027 None 42
ENSDART00000140346 None None 429 None 4
ENSDART00000142446 None None 28 None 2
ENSDART00000145734 Essential Splice Site 308 320 None 10

The following transcripts of ENSDARG00000077139 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 9 (position 24948452)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 24104238
GRCz11 9 23915107
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAGCTTGACTGACTGGCAGAGAATACCTTTAATGCTGTTTGTCTATCAC[A/T]GCACCTGTTAAACAAGGCATCATGGCTTCAGTTAAAACATAGGAACTAAT
Long Flanking Sequence:
AGGACCTGTTTTTCTCCTGCTGTGAACCTAAAAGATTCAAAAGCTGTTATTTTCTTAATACAACAGTTAATGCCAATATAGACCCTTTATTTTAAATGTGTGGATGATGTTCTAAAACAAACATATCCATTAAAAAACCACACTGAAAGTCCACTGTGAAATAATTTGAAAACTTTTAGCTAAGATTTAGGTGTTGCAAATAAAAATGATTACTGTTCTCATCCTCACTGTGTTCTTTAACAGCTTCCCTGCATGTCACTGTGGATATCTGCAAACTACCAAAAGAAGAAGGATCATGTGCAAAATTTGTGCTTAAATGGCATTATGACCCGCTTAGCGGAAACTGCACCCGCTTCTGGTACGGAGGTTGTGGAGGGAACCAGAATCGCTTTGATACACAGGACGAGTGTGAGAAGGCTTGTGGAAAAGCAGGTGAGTTTACCTGTAAAAACAGCTTGACTGACTGGCAGAGAATACCTTTAATGCTGTTTGTCTATCAC[A/T]GCACCTGTTAAACAAGGCATCATGGCTTCAGTTAAAACATAGGAACTAATGGAGACTGTAAGCCAACCGCTGACATCACTCAGAGGATATAGCACCTAAAACTAGAAGCTCCACCACCTCCAAGATGCCTGCACTGGACCTTGCCAGAGGATTTAATCCAAAGAAAACCTTGAAGTAGTATTTTCCACACAAGAAAAAGAAGTGTCTTTGTTTCATGCTGGTGCTACATTTGTGTTTTGTTTTTTCCTTTTTGTTGAAGAAAAAAAGTTTTATTTTATGGGTTTGAAACCCAGTGTGGATGTCCAGGGCAAAATTACTTTTTATGTTATTCTGTTTTAGTCATGTGGTTTGCTCGAGGAAATATCTTGATCAAAACATATCAGTAAATCTTTGTACTTGTGAAACACATTCATGACAGTTTAGTTACATTTAGTAAATTCTAGTCCCTAATTACTGCAGTGCCCTCATTATGTTTTTTACAGCTTGGAAGGAAGAATCTT
Associated Phenotype:
Not determined