Busch Lab

ZMP

col11a2

Ensembl ID:
ENSDARG00000012422
ZFIN ID:
ZDB-GENE-000208-23
Description:
collagen alpha-2(XI) chain [Source:RefSeq peptide;Acc:NP_001073461]
Human Orthologue:
COL11A2
Human Description:
collagen, type XI, alpha 2 [Source:HGNC Symbol;Acc:2187]
Mouse Orthologue:
Col11a2
Mouse Description:
collagen, type XI, alpha 2 Gene [Source:MGI Symbol;Acc:MGI:88447]

Alleles

There are 7 alleles of this gene:

Allele Name Consequence Status Availability
sa36775 Essential Splice Site Available for shipment Available now
sa17390 Nonsense Available for shipment Available now
sa18324 Nonsense Available for shipment Available now
sa23437 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa36775
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
ENSDART00000033363 Essential Splice Site 27 1695 2 65
ENSDART00000104799 Essential Splice Site 27 1877 2 64
ENSDART00000105754 Essential Splice Site 27 2021 1 65
ENSDART00000128331 Essential Splice Site 27 427 2 7
ENSDART00000133179 Essential Splice Site 27 1722 1 63
Genomic Location (Zv9):
Chromosome 19 (position 7847255)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 7305794
GRCz11 19 7224719
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATGGAGACCTCGTTTGTGCTCCTCCTGTGCCTTTCTATGGCACAAGCAG[G/A]TGAGCATTTTGCTTTTTGGGTGTTTGACATTATTTATGCTCGCTATACCC
Long Flanking Sequence:
CTCTCTCTCCACGCACACACACACGCACACACACACACACACACACACGCTCCCCTGCATTTCGTGGGAGAAAGTAAGAAGAGGGAGAGAGAAAGAGAGAGATTGAGAGAGAGTGATTTGAAGCCTCTCTCTGCTCTCTCCGCTTTTCTGTTCTCTCAGACTCAATGGGGCTCTAGCAAAAGGGATTTCAAGCTGTAAAACTACATATTTATTACCCGAACCCTTCTTTCTATTTAAGTTTTGTACATAGCACAGATAACTTATTGAAGAACAAGGTGGGTGTGCGTTTACGACGTCTCTAAAGGCTCTCTTAAAGCCGAGTCCACTGAGTTTTTGTGAGAGAAAAGAACCAAAAGGCTAATTTCTGAAACTGTCCCGCCTTGTAGTCAAACCAAACCCGTCAAAAAACTTGGGAACTATGGATATTCGGAAGAAGCGGAGGCCGTGGTGCATGGAGACCTCGTTTGTGCTCCTCCTGTGCCTTTCTATGGCACAAGCAG[G/A]TGAGCATTTTGCTTTTTGGGTGTTTGACATTATTTATGCTCGCTATACCCCAATGAAAGTGTCAGTTTTGATGCGTTTTCGTGCAGTCCATGTAGAAGAGCAGATAAGAGTATGTGTCATTGCACTAAATAACATGTAGAAGAGTCTGTCCAAGAAGATGCTTGAGTGTTTTCCACACGTTCCTCGTCATTTTGGACGCGTTTATTAGCGGGTTAACTTTTGTTAAGCTCACAATTGTGTTATCTTCAGTATCTTAATTGTGTCTCTTCAGTCGTCATCGTTAATTTGCCTTGTCAGGGTTTTTAATTGATGAGGCGTGAATAGGCCCGTGCGCTTGAGGCCGCGTTGGCACGCATAATGTGGCATCCCCGGCGGGGGCATAGGACAAGACGGTGCTTTCACTGACAGGATTTCAGGTGTTGGTTCCAACTTTAATTCAGCATGCAGCAGTAAGGGATTGTTGTATGTTGTTATTACCTCATAAATCATATAATCGGTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17390
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
ENSDART00000033363 Nonsense 206 1695 5 65
ENSDART00000104799 Nonsense 206 1877 5 64
ENSDART00000105754 Nonsense 206 2021 4 65
ENSDART00000128331 Nonsense 206 427 5 7
ENSDART00000133179 Nonsense 207 1722 4 63
Genomic Location (Zv9):
Chromosome 19 (position 7836094)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 7294633
GRCz11 19 7213558
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCARGGGCATCACWGTTTTTGGAGCCCGTCTCCTGGATGAGGAGGTTTWC[C/T]AGGTCTGCTTTAGCAACRAGTGCAAWGAGTTAGAAATTGTGTGGTGCACA
Long Flanking Sequence:
TTAAATAGTTAATGCACAATATTGTCTTCACCCAACGAATCATACATCAATGGAAAACTTATTTATTTAGATTTTAGTGATGTATAAATAAATAAAAACTAATGCCAAACTATACTTAAACCTATGTTTTACAGTCCAGGGTCACATATATTAATATTGTTTGAATTACGGAGCCATGATATTGTTAGTTTTCAAGCAATGTGAAGTGTAACCGCTGGTGAACAGTAAACTTCACTTTCTGCATTATGAAAGGTTCCTTACAGTCTTTTAGCAAACCCACAAACTATGTAAAGGAACTTGATTCTCATTGAAACATTCAATACCTCTTCGTGTCCTATAGGTGGCACCGCATTGCCATTTCTGTGCAGAAGAAGAACATCACTCTGATCCTGGACTGCAAGAATCGCATCACCAAAACTCTGCCAAGGAGCAACAACCCAGTGTTGGACACCAAGGGCATCACTGTTTTTGGAGCCCGTCTCCTGGATGAGGAGGTTTTC[C/T]AGGTCTGCTTTAGCAACGAGTGCAATGAGTTAGAAATTGTGTGGTGCACATTTTGTGTTTGATTGATCACAATTAAAGTGATGATAAATGTATTTAATTTTCGTGTGCAGAAAATAACTACAATTTATAGTGATTCCATTAATAGTTTTCACATATTGTCTCACCATTAGGGAAACGCCCCACTGGTGGGCAAAACCTCACTATTCCCAATGACCGCCAAGTCACGGGCTGAATAATTGAGAGGGGTCTGGCTGCAGACTCGGTGCAGATGCAATCTCAGCTGCATCCAATGCTTTTTAATGTTCTCACCTAACCCCGCCTCTAACCCCACCCATCACAGTGATGTCACTAGCTCCATTGAGTGCATTGTGTGTGACATTGCATCTCTAAGCAATGCAGTCTCAGCTTGCATCATAAAGGCTGCATCCAAATACTGTTGGAATAATTTCTCTCTTTTTTGCTAAAAAGCCAGATAATTGTTGTGCAATAGATTTAAGGTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18324
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000033363 Nonsense 228 1695 6 65
ENSDART00000104799 Nonsense 228 1877 6 64
ENSDART00000105754 Nonsense 228 2021 5 65
ENSDART00000128331 Nonsense 228 427 6 7
ENSDART00000133179 Nonsense 229 1722 5 63
Genomic Location (Zv9):
Chromosome 19 (position 7834334)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 7292873
GRCz11 19 7211798
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTGYTGATCGCAWCCAACCCTCAGGCCGCATATGACTTCTGTGAGCATTA[C/A]AGCCCKGACTGCGACTCTCCTCTGCCCAAARTCCAGTCCCAGGACCCAAA
Long Flanking Sequence:
AACATCCTTAATAAGCCATAAATAATGAGTACATTCAGTATAAAGTGACCTGTAATAGCAGACAAAGCAATAGTGACCACATAATAAAACAGGTAATCAACACTTTACAGTCTTGAGCTGAATAATGACTTCTGAATTTGAGTTTGCCTCTCATTTATACTTGCATCACTGACTATGTTATATTTTCTGTTTATCACTGTGAAGTTGCTTTACAACAATCCATACAGTATAAATCATTATATAAATAAAGACAGCATAACTTTGATAAGACATACTGAGTGAATCACAAGTGAAAAGGCAATTCATTTAATAATATTTACTTTAATTTCAATTTGCACATAATAACTGCTATAGTATCTCAGGTGGCCTGATTCTGACCACAATTTTCAGGGAGAATCATTTGACATCTCTTCCTTTTCCTTTGGTTTTCTTCAGGGTGAGATCCAGCAGCTGCTGATCGCATCCAACCCTCAGGCCGCATATGACTTCTGTGAGCATTA[C/A]AGCCCTGACTGCGACTCTCCTCTGCCCAAAGTCCAGTCCCAGGACCCAAACACCTATGTGAGTACCACAACACATTTTTAAAGTGAGCCACGGCATCCTGGTGTGAGATATGTAGAGATCCACTAGTGGAAACTGTCTAATTTATCAGTGAACATTACTCAGCTCATATTATTCAAGCAATTCTTCTCTCAATATATTATAAGTCACTGATGTATGTTAAATATTTTTGATTTTGTCTAATATTTGCAGTAAAATCTCATCATTAATCACGTCTTTAAAAAGCTGTGTCTGTATTTGCTTGGATATATATGAACCAATTAAAACATTGTAAATGTTACTCACAAATGCATCTCACACCAGAATGCCAGGGATATTTACATATTACATACCTCTTAAAGTCATGCACATTTTTTATGTTTTAAAACACATTAGTATTAGATTTGATGTACAATATTTGGAGCCCAGTATATATATCATCTCCCTAAAATCCATTGTCATAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23437
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000033363 Nonsense 1402 1695 60 65
ENSDART00000104799 Nonsense 1584 1877 59 64
ENSDART00000105754 Nonsense 1728 2021 60 65
ENSDART00000128331 None None 427 None 7
ENSDART00000133179 Nonsense 1429 1722 58 63
Genomic Location (Zv9):
Chromosome 19 (position 7808575)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 7267114
GRCz11 19 7186039
KASP Assay ID:
2261-2910.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTCAAATTCTCTTTATCTTATCTCTGTGGTACAGGGTGGGGCTGGTCCT[A/T]AAGGAGAAAAGGGTGTACAAGGACCACCAGGACCACCTGTGAGTTGAAAA
Long Flanking Sequence:
AATATTATATGTTTATTATTGTTAATTGTACAGCTTTGGAGAGCATAAAAGACTACCATTTTTACTGATCTCAAACTTTTGCTCAGTATTGCACATGCACAACCATGTTATCAAATGCCATATTTTGTATTAATGCCCTATTTCTGTCTTATTTATTTAATTTTAGGGTATATCTGGAGGAACTGGTCCACTTGGTCCTGCAGGTCCTGCTGGTATGCCTGTGAGTGAACACATTACCATTGTCTCAGTGTTTTTCTCAAATTACCAAATGCTCATTTTTTGAAGAACATGCACTGATTCTTCTTAACTGAAACTTGACTTAGCTGAATGGATGTATTATTTCTCACAGGGCCCGAGGGGTGTCAAAGGAGCTAAAGGTGCCAGTGTAAGTAAAAAAAGCATTGTGCATTGGTGACTTTTCTTCCTTTCATTACACTTTACACTAAAATGACTCAAATTCTCTTTATCTTATCTCTGTGGTACAGGGTGGGGCTGGTCCT[A/T]AAGGAGAAAAGGGTGTACAAGGACCACCAGGACCACCTGTGAGTTGAAAATGAACACCACAACATTATGTTATAAATTAGTATTAAACATAATAATTCATGCTTTATAGTATTTCAGTTAAAATAACAAATTATTGATTTATTTTATTATAGTGCTTCATGTAAGATGATGTTTAGTTGTTTACTCGAGGTTTGATTATTTGTTTGTTTCTGAAAGTCAGTTTTTAGTTCCGTCACTCAATGACATTGCATATGTTGTTAAAGACTAGAAGGGATGATTTAGTCAAGAAGCTATTTGTAGTCTGACTTGCTTATTTTCCATGACATAATCTCACACTATTGAAATATTTTTGAGATGAACATTAAAAACAAACACTATAATTAACACTTTGAAACAGAGTTCCTGCATCTTTTAAATGCATCTGAATTCTGCTTTTGTTTTAGGGTCCCCCTGGTGATGTCATCCAGCCGCTGCCCATTCAGATCCCCAAGAAGTCCAAG
Associated Phenotype:
Not determined