Busch Lab

ZMP

NP_001177687.1

Ensembl ID:
ENSDARG00000028524
Description:
collagen type V alpha-3b [Source:RefSeq peptide;Acc:NP_001177687]
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 8 alleles of this gene:

Allele Name Consequence Status Availability
sa32811 Nonsense Mutation detected in F1 DNA Not yet available
sa9301 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa12865 Nonsense Available for shipment Available now
sa19639 Essential Splice Site Available for shipment Available now
sa13950 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa32811
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
ENSDART00000014072 Nonsense 79 1675 2 64
Genomic Location (Zv9):
Chromosome 1 (position 60259597)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 58577294
GRCz11 1 59283739
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCTGGCTTATAAGATTGACAAGAAAATCCAAGTTAGTGTGCCAACCAGC[C/T]AGCTCTTCCCAGGTATGAAGCACACACACACTCACACACACACTCACACA
Long Flanking Sequence:
AGGTTGTTGTGAAAGTCTTTCCAAATGAGTTCAGCTTTTCTTGTCTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTAGCAATGCTGATTACATTTGTGTGTTTGTGTGTGTGTAGCAATGCTGAGTACATTTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCATGCTGAGAACGTTAATATGTGTGTGTTTCACAAGCTCCAGGGCTGATATGAAGAGACGTATGACCAGTCCGGACCTGCATGCAGATATTTACACACAAACACACACACATACGAGAGCGGATCTGATTTCTGTCCATCAGTCTGTAAAGTAACAGATAGTGTTGTCTCCAGCAGCCAATCCCATCGATGTGCTGAAGGTTTTGGACCTATCAGAGTCCATGGAGGGTGTGTCTTTGGAGGCGGGGCTCTGCAGCAGTAGGCGGGGTTCAGAGGAGGCCGATCTGGCTTATAAGATTGACAAGAAAATCCAAGTTAGTGTGCCAACCAGC[C/T]AGCTCTTCCCAGGTATGAAGCACACACACACTCACACACACACTCACACAAACATACCCAAAGCCTGCAGCTTCACAGATGATCAAATACATGTGTGTCAGGGGTCTGATGCTTGAGAAAATGGGCAGTTTCCGTCTGATTCTGATTGGTTGAGTCACATTCTAAGCTGCAGTAAAGTACTCTACACACACCAGCGGCGGATCACAGTGTGTCTGTGGCTGCTTCTCTGTTGCTCTGCACTCATTTTGTTGTGACTGCCATGTGTTTTGTTCGTGTCATCAGCTGATTTTATATCTGCTGAGTTTATTGAGTGTTATACAGCAGAACTGCTCATGAAGCAGCGCTCTTCAGTCAGCTCATAACAGCTCTGAGAATACCCGAGACCTTCAGCTGCTCTACATTCACCTGTTGGGGGATTTTTGCTTCACTTCACCACAGCGGTCGATAAACTCGCCATCACTTCACTTGAAGGAGACTGTCATGAAGCCTTTATAATCATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9301
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
ENSDART00000014072 Essential Splice Site 963 1675 39 64
Genomic Location (Zv9):
Chromosome 1 (position 60244663)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 58562360
GRCz11 1 59268805
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGTTGGATTAAAGGGAGGGACGGGGCCAATCGGGCCCCCAGGACCTGCYG[T/C]ATGTGTTCAGATCTCAGTATCTTMAGWAATCTCTCAACACTCATGRATAT
Long Flanking Sequence:
ATAGCCGTATGCTGCAGTCTGAGGTGCAGTTTAGGACTCGTTTCTATTCAGCTGATTTTCTATTCTGTATTTTTGCAGGGTAATACAGGAGAAACTGGACCGATGGGGGAACGAGGACACCCGGGATCCCCAGGACCTGCTGGAGAGCAAGGTTTACCTGGAGCCGCAGGGAAGGAGGGTTCAAAGGTGAGAAAATCCTTTTGAGCATTAAGAACTTCCCTTTTTAGCACTCATGACTTCCTTCAGTCATAACTTCGGTGTGTTCGGTCATCAGGGGGATCCTGGAGGTCAAGGCACTTCCGGGAAGAACGGTCCCACAGGTCTGAAGGGCTTCCGTGGCAGTCGTGGAGCACCGGGTGCCATGGTAACCTAAGAACACCTTCTGTCCTCTGTCAGGCTTTCTGATTGGCCAGGTTTGTCATGTGACCTGTGTTCTCTCGTGTAGGGGCCAGTTGGATTAAAGGGAGGGACGGGGCCAATCGGGCCCCCAGGACCTGCTG[T/C]ATGTGTTCAGATCTCAGTATCTTAAGTAATCTCTCAACACTCATGGATATATTCCCTGAAATAATCGGTCTGCTTTTCTTCCCAGGGGCCCACAGGTGAACGAGGACCCCCTGGATTGGCTGGTGCCATTGGTCAGCCCGGTCGACCTGGAACCAGCGGAGGGCCCGGACCAATGGGAGAGAAGGGAGAGCCAGTAAGGCACGCCTCCACACCTGAAGACCTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTAACTGTGTGTGTGTTGTCAGGGAGACAAAGGTCTGATCGGACCTGCAGGACAGGATGGTGAGCAGGGGCCTGTGGGACTACCAGGAGCAGCCGGCCCTCCAGGACCCCCAGGAGAGGATGGAGACAAGGTGATGAAGGCATATTTCAACACCCCCATGTCTTCCACACAGATTCTCCACACGATATCGCAGTTTAAGTTGCCTGAAAGCAAACACAGAAGACAGGATTGAGGAGAACACGGCAGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12865
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014072 Nonsense 1082 1675 44 64
Genomic Location (Zv9):
Chromosome 1 (position 60239400)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 58557097
GRCz11 1 59263542
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTGTGTGTGTGTGTGTCAGGGTGTGGATGGTGAGGTYGGGCCTACAGGA[C/T]AGCAGGGCAWGTACGGACAGAAAGGAGACGAAGGGGCCCGAGGATTYAAG
Long Flanking Sequence:
ATGTCCTACAACTTTACACAAACAGCTGGAAACAAGTCCTCAAACCATACACAACAACTGAAACAAATCTTAAATGTACTTACAGGCTGCTGGTCTAGATGCTGATAAAGTGCTTCTCTTCTGAAGTCTCTTAATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGGGAAACTGGAGCTCCAGGACAGAAAGGCAGCAAAGGAGACAAAGGAGAATCAGTGAGTGACTGAACTAAAACACACACACACACACACACACACACACACACATGTCCAAGTGTCACTGATGATGTAAATCTGCACTCAGGGGCCTCCAGGTCCAGTCGGCTCTCAGGGGCCTGAGGGGCAGCCAGGAGCGCCGGTGAGTGTGTTTAATAAGGGGAAACTGGGGGTCTTCATCTCCTCACCGTGTGTTTGGAGTGTGTGATTAAGTATGTGTGTGTGTGTGTGTGTGTGTGTCAGGGTGTGGATGGTGAGGTTGGGCCTACAGGA[C/T]AGCAGGGCATGTACGGACAGAAAGGAGACGAAGGGGCCCGAGGATTCAAGGGCTCCAGGGGCCCGGGGGGACTGCAGGTACACCAGCACTCAACACTGATCCTCTGTCTGATTAAAGACTCGAACTAAACTCACCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGGGAATGCCTGGTCCTCCTGGAGAGAAAGGAGAGAGCGGGAACTCTGGTCTGCTGGTGAGCTCATGATTGATCGGTCTGTGTTGATCAGCTCATGTTGAGGATATCAGCTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGCAGGGTCCTCCTGGTCAGTTTGGTCCTAGAGGAGCTCAGGGGCCCTCTGGTGGACAGGTAAACACACACATCTTGTGTTTAAGCTAAAGTTACGCAGATCTGGGAATGAGGAGCTAATAGTCGACTGAATCAGACAAATGTCTAATTTAAATATGCAAATTAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19639
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014072 Essential Splice Site 1323 1675 54 64
Genomic Location (Zv9):
Chromosome 1 (position 60234249)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 58552047
GRCz11 1 59258492
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCTCTGGGAAGCCGGGTCCTCAAGGTCTTCCAGGAATCCCAGGACCAGCG[G/A]TGAGATCCTCGACTCCTCAGGGGGTTTCCACACTTCCACACAGCAGGTTC
Long Flanking Sequence:
AATATGCATTATACCTCATCAGGGAGGAGCTGAATGAATGTTTAATCTGTATATCCTGCATTTTGCACACTGACGAGCATGTGACCCGGTGCTGCTGTAGTCATTGCATATACTGAACGTTCATTATTTGACTATGCTGAGGAATTCAGCCAGATTTTCTTTCAAATATAAAACAAGCATTAATAAATGACGTGTGAGAGTAGAGATGGGCTGAGCAGATGATGCATTCCAGAGGTCTGGCCAGCAGCTGAAACACACCATCCTCATTGAGTTTACATCTGCTTCTGTCAATCACCTTAAGGAGCTGATCAGCAGACCTCAGAGAAGAAGATCTGCTCACTGATGCTGCCAGACATGTTTGTGGTCATGTTTTCTGTGTTTTCTACTTTCAGGGCGCTCCGGGATACGAGGGCATTATAGGGAAGCCGGGGCCGGTGGGTGGGCAGGGGACCTCTGGGAAGCCGGGTCCTCAAGGTCTTCCAGGAATCCCAGGACCAGCG[G/A]TGAGATCCTCGACTCCTCAGGGGGTTTCCACACTTCCACACAGCAGGTTCAGGAACATTCGGAAGCACAAGAGCATCGGGCTGTTGACCTGAGACTCTGCAGACCAGAGCTGAGTCTCTAGAATTAATTCTTAGCATAGTTTTTTAAGAGCGCTTAGAGCGCTGTCTGCTGTTAAAAACTAGCATATACCGCCATCTGCTGTTAAAAACTAGCGAATACAGCAATCTGCTGTTAAAAACTAACGTATACCGCCATCTGCTGTTAAAAAACTACCGAATACGGCAATCTGCTATTAAAAACTAGCGAATACAGCAATCTGCTGTAAAAACTAACATATAGCGCCATCTGCTGTTATAAAACTTTGCGAATACGGCAATCTGCTGTTAAAAACTAGAGTATAGCGCCATCTGCTGTTCAAAAACTAGCATCTACCTCTGTATACTGTTTAAAAAGTAGCGTATAGCATGTCTACTATTAAAAACTACAGTATAGCGCCACCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13950
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
ENSDART00000014072 Essential Splice Site 1323 1675 54 64
Genomic Location (Zv9):
Chromosome 1 (position 60234248)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 58552046
GRCz11 1 59258491
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTMTGGGAAGCCGGGTCCKCAAGGTCTTCCAGGAAWCCCAGGACCAGCGG[T/C]GAGATCCTCGACTCCTCAGGRGGTTTCCACACTTCCACAMAGCAGGTTCA
Long Flanking Sequence:
ATATGCATTATACCTCATCAGGGAGGAGCTGAATGAATGTTTAATCTGTATATCCTGCATTTTGCACACTGACGAGCATGTGACCCGGTGCTGCTGTAGTCATTGCATATACTGAACGTTCATTATTTGACTATGCTGAGGAATTCAGCCAGATTTTCTTTCAAATATAAAACAAGCATTAATAAATGACGTGTGAGAGTAGAGATGGGCTGAGCAGATGATGCATTCCAGAGGTCTGGCCAGCAGCTGAAACACACCATCCTCATTGAGTTTACATCTGCTTCTGTCAATCACCTTAAGGAGCTGATCAGCAGACCTCAGAGAAGAAGATCTGCTCACTGATGCTGCCAGACATGTTTGTGGTCATGTTTTCTGTGTTTTCTACTTTCAGGGCGCTCCGGGATACGAGGGCATTATAGGGAAGCCGGGGCCGGTGGGTGGGCAGGGGACCTCTGGGAAGCCGGGTCCTCAAGGTCTTCCAGGAATCCCAGGACCAGCGG[T/C]GAGATCCTCGACTCCTCAGGGGGTTTCCACACTTCCACACAGCAGGTTCAGGAACATTCGGAAGCACAAGAGCATCGGGCTGTTGACCTGAGACTCTGCAGACCAGAGCTGAGTCTCTAGAATTAATTCTTAGCATAGTTTTTTAAGAGCGCTTAGAGCGCTGTCTGCTGTTAAAAACTAGCATATACCGCCATCTGCTGTTAAAAACTAGCGAATACAGCAATCTGCTGTTAAAAACTAACGTATACCGCCATCTGCTGTTAAAAAACTACCGAATACGGCAATCTGCTATTAAAAACTAGCGAATACAGCAATCTGCTGTAAAAACTAACATATAGCGCCATCTGCTGTTATAAAACTTTGCGAATACGGCAATCTGCTGTTAAAAACTAGAGTATAGCGCCATCTGCTGTTCAAAAACTAGCATCTACCTCTGTATACTGTTTAAAAAGTAGCGTATAGCATGTCTACTATTAAAAACTACAGTATAGCGCCACCTG
Associated Phenotype:
Not determined