Busch Lab

ZMP

LOC100333692

Ensembl ID:
ENSDARG00000011407
Human Orthologue:
COL2A1
Human Description:
collagen, type II, alpha 1 [Source:HGNC Symbol;Acc:2200]
Mouse Orthologue:
Col2a1
Mouse Description:
collagen, type II, alpha 1 Gene [Source:MGI Symbol;Acc:MGI:88452]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa9187 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa34995 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa13949 Essential Splice Site Available for shipment Available now
sa9455 Nonsense Available for shipment Available now
sa16061 Essential Splice Site Available for shipment Available now
sa31809 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa9187
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
ENSDART00000047844 Essential Splice Site 158 1257 11 47
Genomic Location (Zv9):
Chromosome 11 (position 114051)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 46546
GRCz11 11 46546
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCGTTGGTACAGCAGGATCTCCCGGGTTCCCAGGATCCCCCGGTGCAAAG[G/A]TGTGACCTCTCTTGATTCCTCTATCAATGATCCCTCATGTCTCTGCTGCA
Long Flanking Sequence:
AACTCTTCTGCTGTGCAGGATACTCATGTTCACTGCAGACACACCACTGGGAGAAAATGAGCAGAATAGTCTGTGTGTAGTCTTGTAGAGAGTGTGGATCAGCGGCGCAGTGATGTCCAGAAGTGTAGTAATGCTGTGTAGAGGATGGGGTTAGGTTATAGTCTTTATATGCTGTGTGATATGCACACGTGTGTGCACATGATGACGACGATGATGATGACGCACAGCACTGAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTATCAGGGTGCTCGTGGTAATGACGGTCTGCCTGGCGGTGCTGGTCCACCGGTGGGTTTGAGGATCCTTCATTTCTTCAGTCGCTGTGAATCGTGTCTTTATTTGCAGATCAGCAGCTCATCGCATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCAGGGTCCCGTTGGTACAGCAGGATCTCCCGGGTTCCCAGGATCCCCCGGTGCAAAG[G/A]TGTGACCTCTCTTGATTCCTCTATCAATGATCCCTCATGTCTCTGCTGCATCACAGTCACTATTCACACCTGTACAGCAGAACACACACCTGTACACCTGACACTGACTCAATAGAACACACACCTGTACCACAGAACACACACCTGTACCACAGAACACACCCCTGTACCACAGAACACACACCTGTACCACAGAACACACACCTGTACCACAGAACACACACCTGTACACCTGTGTTGCTCCAGCAGATGAACACTCGTAGCTCCACACACACACACACTGAGGTGTCTCAGATGTTGCTGATGGAGGTTTACTGACGGTGTGTGTCTCTCAGGGTGAAGCGGGACCAACCGGAGCCCGAGGGCCTGAGGGAGCACAGGGGCCCCGTGGAGAGTCTGGTGTTCCTGGAGCCTCGGGACCCTCTGGAGTCTCTGTGAGTATTAAACAGCAGGGCAGGGGACGCGGGTACGGATGGAGATCAGGGTTAGCTGGAGGAGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34995
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
ENSDART00000047844 Essential Splice Site 158 1257 11 47
Genomic Location (Zv9):
Chromosome 11 (position 114050)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 46545
GRCz11 11 46545
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGTTGGTACAGCAGGATCTCCCGGGTTCCCAGGATCCCCCGGTGCAAAGG[T/C]GTGACCTCTCTTGATTCCTCTATCAATGATCCCTCATGTCTCTGCTGCAT
Long Flanking Sequence:
ACTCTTCTGCTGTGCAGGATACTCATGTTCACTGCAGACACACCACTGGGAGAAAATGAGCAGAATAGTCTGTGTGTAGTCTTGTAGAGAGTGTGGATCAGCGGCGCAGTGATGTCCAGAAGTGTAGTAATGCTGTGTAGAGGATGGGGTTAGGTTATAGTCTTTATATGCTGTGTGATATGCACACGTGTGTGCACATGATGACGACGATGATGATGACGCACAGCACTGAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTATCAGGGTGCTCGTGGTAATGACGGTCTGCCTGGCGGTGCTGGTCCACCGGTGGGTTTGAGGATCCTTCATTTCTTCAGTCGCTGTGAATCGTGTCTTTATTTGCAGATCAGCAGCTCATCGCATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCAGGGTCCCGTTGGTACAGCAGGATCTCCCGGGTTCCCAGGATCCCCCGGTGCAAAGG[T/C]GTGACCTCTCTTGATTCCTCTATCAATGATCCCTCATGTCTCTGCTGCATCACAGTCACTATTCACACCTGTACAGCAGAACACACACCTGTACACCTGACACTGACTCAATAGAACACACACCTGTACCACAGAACACACACCTGTACCACAGAACACACCCCTGTACCACAGAACACACACCTGTACCACAGAACACACACCTGTACCACAGAACACACACCTGTACACCTGTGTTGCTCCAGCAGATGAACACTCGTAGCTCCACACACACACACACTGAGGTGTCTCAGATGTTGCTGATGGAGGTTTACTGACGGTGTGTGTCTCTCAGGGTGAAGCGGGACCAACCGGAGCCCGAGGGCCTGAGGGAGCACAGGGGCCCCGTGGAGAGTCTGGTGTTCCTGGAGCCTCGGGACCCTCTGGAGTCTCTGTGAGTATTAAACAGCAGGGCAGGGGACGCGGGTACGGATGGAGATCAGGGTTAGCTGGAGGAGAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13949
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000047844 Essential Splice Site 411 1257 21 47
Genomic Location (Zv9):
Chromosome 11 (position 109945)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 42440
GRCz11 11 42440
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGCTKGAAAGGCTGGAGAGAAGGGACTCGCTGGAGCTCCGGGTCTGCGTG[T/A]AAGTGTTGATTTGCAGCTTCATAAACTCMGAGAAACGAGCGGACACACAA
Long Flanking Sequence:
TAGAGCAATGCAGTAATGCAACATTAGAAGGAGCGCTTAGGCTGTTGAAGGACGACTCTGTTTCTGCAACATTATTAATCTATATAGGTAATATTCTAACATCAATGCAATGCTGCTCCGTCACTTCCTGTTTCCTGTCACATGACTTCAATCTTACAGAAGAACACACACATTAAATACATGTTCAGATGTGTTGTGTCTTCATTTACCGTGTGTTTTGTTGAGGGTGTAGGGCGCTCCGGGTGAAGACGGTCGTCCGGGACCCCCGGGGCCTCAGGGTGTTCGCGGTCAGCCAGGAGTCATGGGATTCCCGGGACCCAAGGGTGGAAATGTAAAAACCAACACTCTTCTTAGTCCATGTCTGTCTGTCTGTGCGTGTTATTATTGCTCTGTTGTGTCAATATTCAATCATAACCCTTTTATGTGCATCTGTGTCTCGCTGCAGGGTGAGGCTGGAAAGGCTGGAGAGAAGGGACTCGCTGGAGCTCCGGGTCTGCGTG[T/A]AAGTGTTGATTTGCAGCTTCATAAACTCAGAGAAACGAGCGGACACACAACAGACGGATCTCCAGAGTCTGAAACACTGCTGAGAGCCTCTTCTAGAGCTAAAACTCTGACCTGGTCTAGGAAAACTCGACATTTGGATGTGCTTCGTGGTTTTCGTCTCTATTTCAGTCAGCTTCAGCAGTTTCTAAGCAGATATTTTAGTAAATGATCATTTACAAAGTGAAAATAGTGAGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNGATCATAGTAGAGCATCTAAATATCAGAGTCTGACATAAACCACACGCCTGGATCAGGTTCACAGCTGCTCTTGCTGAAATGACCACCACCATAGTGAAGAACACATTAAACAGTGTGCGCACATGCACTGATAATGCTGATCATCGCTCTCCAGGAGTGTTTGTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9455
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000047844 Nonsense 674 1257 34 47
Genomic Location (Zv9):
Chromosome 11 (position 106131)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 38626
GRCz11 11 38626
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CATTTTTAAAATGTTTGCAGGGTGCCACGGGTTTCCCCGGAGCCGCTRGA[A/T]GAGTTGGACCTCCTGGTCCTAATGTAAGAAAAGCAATAGAAAGCAAAACA
Long Flanking Sequence:
GCAAATGCTTTGATAGTCACACACATGAGAGTTTCCTGATATCTGCCTACAGTGAAGGCCTCAGAGCTGCTGTATAATGTGTCATTCAGAAACTCTGCTTTGCTCTGTATGTATTAGGGTGCAGATGGACAGCCGGGAGTGAAAGGAGAGCAGGGTGAAGGTGGACAGAAGGGTGATGCTGGAGCCCCGGGCCCTCAGGGGCCCTCTGGAGCTCCGGGCCCGCAGGTAACATCAGCGTAATTGTTCTGTTTCTGAACCGTGATGTGAAATGGTGATGTTTACCCTAAAGCAGTTCTGTAGTTCTTAATACTGGACTCCTCTTTTTCTTAAAGGGACCAACCGGTGTGTCTGGACCAAAAGGGGCTCGTGGTGCTCAAGGCCCTCCTGTAAGTACAAGATCAAGTAGACACAGGACATGCAGATAAATTAATGTGTTGATAAGTAAATGCTCATTTTTAAAATGTTTGCAGGGTGCCACGGGTTTCCCCGGAGCCGCTGGA[A/T]GAGTTGGACCTCCTGGTCCTAATGTAAGAAAAGCAATAGAAAGCAAAACACATCTATAGTGTGGAGTAAAACATCTGATGAGTATGAGCAACGTTCTGACAGACATTCATGAGGGCGATCAGAGAAACCTCTGTGTGTTCTTCACTGGGTCCGCCATCATGTTTCTAATTTTCTTATTCTCAGGGTAACCCTGGTCCAGCCGGTCCTGCTGGTCCTCCTGGTAAAGATGGGCCAAAGGGTGTCAGAGGAGACGGTGGTCCTCCTGGAAGACCTGGAGACGCTGGTTTACGGGGTTCGGCTGGTCCTGCAGGAGAGAAGGGAGATCCTGGTGAAGACGGTCCTCACGTACGTACTGCAGGATCTCAGTAAACATGATTCTGACTGTAAAAGCAGATAATAAAGACGCTAACAGTGAAAGCAATGGATGAAAACCTGCTAATTAAATGAAAAGTGCACAGATATGAGCAGCTGAGTGTAAACTACTGAGTGCCCTTGAGCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16061
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000047844 Essential Splice Site 861 1257 39 47
Genomic Location (Zv9):
Chromosome 11 (position 104207)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 36702
GRCz11 11 36702
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTCCTGGTCCAGTMGGACCCACTGGTAAWCAGGGAGACAGAGGRGAGGCR[G/A]TAAGTACAGATTTTTACAGCTCTTCATGACGTGTAGAATAAAATGTATGT
Long Flanking Sequence:
GAGATAGACTTAAAGCTGAATAAATATGTGTCCGATTATTATTCTAATAATATCAGGTGTGTAAAATAATGAATGACTGAACCGTAAGTGTTCACTTCCTGTGTTCATCAATGCTCCTGGAGAACTCTTACACTGCCAGAAGCTTAAACACTAGAGTAGAACCAAATAGATGAAGACATTCACACACACTGCACATACATGAGCTGGATTAATGCAAGATTCATGTCGCGTAAATCGTTTGCAGGGCAATCCTGGATCTGATGGTCCTCCTGGTCGAGATGGTTCTGCTGGAATAAAGGTAGGGAGGATATGTAGACCTGGTTTCACTAACTGTAATGACCATGGTGTAGTCTGAGTTCTGCTTGCTGACGATCGGTCTGTGTTCTGTTCAGGGAGACCGAGGTGACACGGGTCCAGCTGGAGCTCCTGGTGCTCCAGGGGGTCCTGGTGCTCCTGGTCCAGTCGGACCCACTGGTAAACAGGGAGACAGAGGAGAGGCG[G/A]TAAGTACAGATTTTTACAGCTCTTCATGACGTGTAGAATAAAATGTATGTATTAGTGATGTTATGGTAGAATTATCAAGAATGATCACTGTTCTCATTCAAACAACAACTAAAAACCCACCACCAACCAAACACTTGAGCACAATGGAACAATGTCTCAGAAAATGGCATGACAGAAAAGAGGACTTATTCTTTCCAAAAGATTATTCTAATCGTAATGAGAAGTCTAATGATGACATTTAATGAGGAAGGCACATGACACACTCATTCCTTTCAACTGCAGGGTCCCCATGGGCCTTCTGGACCTCCAGGGCCTGCTGGAGCTCGGGGAATGCCTGTGAGTACCTATCATGTCAGAAATTAATAGCATTCTGGCGTAATTACAGCATTTTTCTTCATTATCAAGTCTGTTTGTTAAAACTCAAATTCTGCTTTTAGCAGTCCATTTGTCAATATACACTCCTAATTCAGTGTAGACCTTCAGAATTAATGTGTAAGCCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31809
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000047844 Essential Splice Site 915 1257 41 47
Genomic Location (Zv9):
Chromosome 11 (position 103582)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 36077
GRCz11 11 36077
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAAAGGACACAGAGGCTTCACTGGTCTCCAAGGTCTGCCTGGGTCTCCT[G/T]TAAGTGCCTACATCGCTCATATTTGCACTCATTTTGTGTAAATGACGTAC
Long Flanking Sequence:
AACCAAACACTTGAGCACAATGGAACAATGTCTCAGAAAATGGCATGACAGAAAAGAGGACTTATTCTTTCCAAAAGATTATTCTAATCGTAATGAGAAGTCTAATGATGACATTTAATGAGGAAGGCACATGACACACTCATTCCTTTCAACTGCAGGGTCCCCATGGGCCTTCTGGACCTCCAGGGCCTGCTGGAGCTCGGGGAATGCCTGTGAGTACCTATCATGTCAGAAATTAATAGCATTCTGGCGTAATTACAGCATTTTTCTTCATTATCAAGTCTGTTTGTTAAAACTCAAATTCTGCTTTTAGCAGTCCATTTGTCAATATACACTCCTAATTCAGTGTAGACCTTCAGAATTAATGTGTAAGCCATGTTCATTAATCACAGGGACCACAAGGACCGCGTGGAGATAAAGGAGAAGCTGGGGATTCGGGAGATAGAGGACAGAAAGGACACAGAGGCTTCACTGGTCTCCAAGGTCTGCCTGGGTCTCCT[G/T]TAAGTGCCTACATCGCTCATATTTGCACTCATTTTGTGTAAATGACGTACAAATGTAAGATGTAATGTGATTACTCAAAGGCATGTTTACACTCCAAACACAGGGTCAACCTGGTGATCAAGGTGCTTCTGGACCCTCTGGACCTGGTGGAGCAAGAGTATGTATATTAATGATAAGTCTGCATGAGGACTGATTTTTGCAGGGTGTGCTCTGCAGTGTTAAGGTCCAGTGTTAACCTTTCAACAACTTTTAGGGACCCCCAGGCCCTGTCGGTCCAGCTGGAAAAGATGGAGCAAACGGTTTACCTGGACCCATTGGACCCCCGGGACCCCGTGGTCGTTCTGGGGAGACTGGTCCATCAGTAAGTACCAAAAAAAAAACACCTTTCACACCTCTACTTTGGAAAAGTCAGGAAAGTGGGCGTGTCCAGCTCTGTTTAGGAGGGAGTGTCAGAGGAGCAAAAGAGGGAGGGTCTGTAAAAATTTTGCATAAAAATGGGA
Associated Phenotype:
Not determined