Busch Lab

ZMP

ENSDARG00000077245

Ensembl ID:
ENSDARG00000077245
Human Orthologue:
COL21A1
Human Description:
collagen, type XXI, alpha 1 [Source:HGNC Symbol;Acc:17025]

Alleles

There are 8 alleles of this gene:

Allele Name Consequence Status Availability
sa24424 Essential Splice Site Available for shipment Available now
sa15530 Nonsense Available for shipment Available now
sa16013 Essential Splice Site Available for shipment Available now
sa37804 Nonsense Mutation detected in F1 DNA Not yet available
sa37805 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa24424
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
ENSDART00000066866 Essential Splice Site 27 957 1 29
Genomic Location (Zv9):
Chromosome 24 (position 547758)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 487730
GRCz11 24 217389
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATTATCCTGGTGTTTTCACACGCTGCCAAGGACGATGATGTTCGAGCAG[G/A]TATGATCAGATTCTGATAATGGCTCAGTGGTTAGCACTGTGTTTCTGTGT
Long Flanking Sequence:
GCTTACACTTTATACAGGAATGAAAACATTTGGGTCAAATCACAACACTGTGTGATGTAAATATGAGCTGGCTTCATGAAAATGACCTTTCATTTAAGTCTACTATTATTATGATTCTTTTAAACTGAAATATATAAAGTATATAGCTTTTAAATACACTTAATATTGCACTTAATTATGTTTTAGTATATTTGGCTTATGCTGCTTTCACATATACAGTACTTATCTTCCACATAATATTATATTCTCCCCTGGTTTCAGAGGTGAAGAGTATAAATATGCTCTAAATAATTTGGCTTATTTCATTATCGTTTCTGCAAAATGCACTAACTAATGAGACTAACTCATGTTAATGTTCTGCTTCAGCAGGGCTCTGAGGATTGGTGTTGAATGTGAACGGCTGGATCTTCAGTTGGGAATGTCGTGGGTTTGGAAATGTGTCCCAGCACTGATTATCCTGGTGTTTTCACACGCTGCCAAGGACGATGATGTTCGAGCAG[G/A]TATGATCAGATTCTGATAATGGCTCAGTGGTTAGCACTGTGTTTCTGTGTGGAGTTTGCATGTTCTCCCCGTGTTGGTGTGGGTTTCCTCCGGGTGCTCCGGTTTCCCCCACAGTCCAAACACATGCACTATAGGGGAATTGGCTGTAGTGTATGAGTGTGTGTGTGTATGGGTGTTTCCCAGTGTTAGAAGGACACCCGCTGCCTTAAACATATGGTGGAATAGTTGGCGGTTCATCATGTCTTGTGTTGACTCTACAGGCTGCAGCACTGCGGTTAATGATCTGGTCTACATCATGGACGGCTCCTGGAGCGTCGGCGACGTGGACTTCGAAACTGCCAAACGCTGGCTAATCAATGTCACCAGCGGTTTCGATGTCAGCTCGCACTATTCTCAAGTGGGCGTCGTTCAATACAGCGACACCCCCAGACTGGAGATCCCCTTGGGTCAACACAAAACAACCCAACAGCTGATTGAAGCCATCGAGAAGATCAGCTATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15530
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000066866 Nonsense 256 957 3 29
Genomic Location (Zv9):
Chromosome 24 (position 550584)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 490556
GRCz11 24 220215
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CATCAGAAAGCCAARAAGATCCAGGGCTCACTGGTGTCAGAGGGGGCGTA[T/A]CTRCTGGAYAAGACCACYGACATCACTGAAAACACAAGGTCAGGGNNNNT
Long Flanking Sequence:
ATTTTGAACATTTAAAGAATAAAAAACAATAAAATAAACTAGATTAAATAAGAAAGAAAAGATTTCATTACATCATTTTACACAGTTGAGTTTGTATGCTTTTACTCGCTGCTGGATTGTGCACGATCGTCATATTTAGTGCTGTCAGATCTCTTATTGATTGAAATAAAATGTGGAGCAGGATTAAAAAGCTGGTTGGGAAGTGCATGATGCAACCCTGCAGAATCTGTGTGTGGGAAAGCATCTGAAATGATGAACCTGTGAAACGTGTTATGCAGAGTGTGTGTGTGGTGTGAAATGAGTGTGTTAAATATGTACTGCAGAGTGTGTGTGTTACTGCGTCTTTAATGAGTGTGTTAAATGTGTCCTGCAGAATCGGTGTGTCCGACACGCATCCCTGTGGCGTCCCGGGACGAGAAAGGTTTCGAACTGATTCTGGGCATGAAGATCCATCAGAAAGCCAAGAAGATCCAGGGCTCACTGGTGTCAGAGGGGGCGTA[T/A]CTGCTGGACAAGACCACCGACATCACTGAAAACACAAGGTCAGGGTTTATTTATTATGTACACTGTAAATAACTGCTGTAAAATGTACATATGACTGCACTGTACAGGAATGAGTACAGTAGTTTCCTCAGGGTGTGTGTTCTGATCAATGTGTGTGTTCTGGCTGATGTGTTTATTGTTTTTCAGGGACATTTTTCCGGAAGGTCTTCCTCCGTCGTATGTGTTTGTGTCGACACTTCGTCTGAAAGGCTCTTCGAGTACGGAGAGTTTTGACCTGTGGAGGGTGAAGTCTAAAGATGGGCAGATCCAGGCGGCGGTCACGCTCAGCGGACTGCAGAAATACATCAGCTTCACCACCACTAACACCTTTAATCAGGAGCAGACCGTCGTTTTTGATGCGCCAGGCATTGAGGTGAGCGAATCTACCTGAGTGTTATTCTGTAGAGCTGCGTCTGAGGCAGCAGTGTGAACTCTTTACTTCACTACAGAACTGAAGGACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16013
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000066866 Essential Splice Site 657 957 19 29
Genomic Location (Zv9):
Chromosome 24 (position 573994)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 513966
GRCz11 24 243625
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CGCAGGGGCCTTCAGGGACCCCTGGAGCAGACGGAGCYCGCGGCCCCAAG[G/T]TGAGAATCCTCCARAGACGCGCTAATTTTTAATKATTAATTATTCTTATT
Long Flanking Sequence:
TGACCGACAAAGCTTCAGTATTTTGGGCTGTAATGTGAGTGTTTAACAGTTTTTGGTGTGTTGGAGAATTGAGACCAAATAATTAAATTATTGAGGAAACATTTCTAGAGTTCATAAAAAAGTCAATACAGTAATTAAACTAGCGCATTAGACATATTTCTGTACACCTTTCCATTAGGTGTTGTTGCATTACATTATTACAATGAATATTCATCTTTTTCATTTGTTATCTAGCTAAAATAAACACCTTACACATAATAAAATAGATGGTTATGGTTTGAATGTTAATGTTGTAGGTGTTATTATTCATTTGAATCATTATATATATATATTACACACACCACACCACCACTGCCAAGTAGACATCAAATTGTGAAGTAATATAGGAAGATTTGTTGTGTGTGTGTGTTTACTCTTATCAGCTGTTGTGTGTTTGTGTCCTGCAGGGGGCGCAGGGGCCTTCAGGGACCCCTGGAGCAGACGGAGCTCGCGGCCCCAAG[G/T]TGAGAATCCTCCAGAGACGCGCTAATTTTTAATTATTAATTATTCTTATTATTAATTAGACAGATCACATGTGCTGTTCCTGGAGCAGTGCTCATCAGAGGAGTGTGTTCACTTAACTGTGCTCACTATTGCACTCTTCATTTAGACAGAGATTGATTGTGTCTGTAGTCAATAATAGAGATGTTATGTGTGGCTTGAGGATTTATGTGCACTAAAATATCAAGAAAAAAGGTTAAATAACATGAAGGGAATTAATTCATCAGTTAATCTGGATTTATTATCAGGTATGGGGTTTAGTTAACTGTTCATATGTGAGTCTGCACCACGAAACTCTGACTTCAGTGTTTAGCAATGAAATCAAATCAAATGTAGACAGTTGAAGTCAAAATGATAAGCCCTACTGTCAACTCTGGGATTAAGAATGGAGTTTTAAATGTGTGTGTGTGTGTTCTGCATATGTGTGTTTGTGTATAAATTTATATATACGTGTGTGTGTGTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37804
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000066866 Nonsense 694 957 21 29
Genomic Location (Zv9):
Chromosome 24 (position 574915)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 514887
GRCz11 24 244546
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCAGGGAGAGTCGGGATTCCCAGGAGCTCAGGGAGCCACAGGCCTTCCT[G/T]GATTTAAAGGACACAAGGTAAAAACACGGTAAACAAGCGGCAGAAAAAAC
Long Flanking Sequence:
AATGGAGTTTTAAATGTGTGTGTGTGTGTTCTGCATATGTGTGTTTGTGTATAAATTTATATATACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTGCATATGTATGTTTGTGTGTAAATTTATATATACGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTGCATATGTATGTTTGTGTGTACATTTATATATATACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTGCATATGTATGTTTGTGTGTAAATTTATATATATATGTGTGTGTGTGTCCAGGGCAGTGCAGGAGAGACGGGGGGCGCAGGTGCTCCTGGAGCTGCGGGTCAGAAGGTCAGATCTGCTGCCTCTGCTGCTGTTTTCCATTCTGCCGTCCGTCACATTCAGAGTGTATTCTGTGTCTCCCACAGGGCCAGCAGGGAGAGTCGGGATTCCCAGGAGCTCAGGGAGCCACAGGCCTTCCT[G/T]GATTTAAAGGACACAAGGTAAAAACACGGTAAACAAGCGGCAGAAAAAACCTGCATTCACTGCACTGCAGAAACTGCTGCTCTTACTCAGAGTTTGTGTCTTGTTTCTAGTCCAAAAATCACTGAAATTAGGAAGCATTTTCTACACAAGCTGAAAATATAGTGTTGTTTTCAGAAATGATGAAGACTTTCTCCTGAAAACAAGCTAAATATCTGACAGTGGGGGAAAAGGAATAATCTTATGTCTAGGAAAAGAAAGACCCCGTTGGCAGATTATTTAACTTGTAGCTTTAAGGATAAACTTGATAAGTTTAGACTCACTATTGCGGAAAGTAAGACTGTTTTAATCAAAATCTGTTTTGCGTGTCTAGAAGAAAGAATTTTGAGATATTTGGATTAGAAACAAGACAAAAACTCTCAGTGAGAACAGCACTTTTTTTTTTAATTGTTGCAGACTGATGCTGGGGGTTATGTGAAAGAAATCTCCTCTTCTTGACTAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37805
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
ENSDART00000066866 Essential Splice Site 804 957 26 29
Genomic Location (Zv9):
Chromosome 24 (position 582533)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 522505
GRCz11 24 252164
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCCTCCGTCAGACGAGTACTTCATAAAACTCTGCAGGGACGTTCTGAGAA[G/A]TGAGTATCCGACCTTCCTCGAGGTCATTATTCTCTCATGAACAAAGAGCC
Long Flanking Sequence:
TGTATTAAATCCTGCAGAGAGGCTCGCCTGGTGACCCTGGGCTCAAAGGTCCAGACGGGCAGAAGGGGGACATGGGGCACATTGGTGTTGTCGGACCGCGTGGATTCCCAGGTCAAGACGGTTTACCAGGACAACCAGGCAATCCAGGCTTTCCAGGAAAACCTGTGAGTATTCCTGCATTTCTCTGAACCATGTGATACCAATTAAAAATGTTGTCATAGCCAGCAGGTGTTTTCCTTTTGCGAGAAATAAACAAATGGTAAACAAAGCAGGGCGTGTGCCGCGGCCATGTCAGCGCGCATCATCTCAAGTCATTATGAAGGAGAGCAGAAAGCCTGAGGTCAACGCTGTGTAATTGAGTCGCTTTCTTCTGTCTCTTCCTGTACCATCATCTCATTTCTTTTGTGTGTTTTTCATCTAATGAGTGGCTGGATCTGTGTTTCAGGGGAAGCCTCCGTCAGACGAGTACTTCATAAAACTCTGCAGGGACGTTCTGAGAA[G/A]TGAGTATCCGACCTTCCTCGAGGTCATTATTCTCTCATGAACAAAGAGCCCAAGGAGCTTTTTTCCTCTTCCCTTTTTTAATACGAACCACCCTGCTATGTAAAGCGCCCAGAATAGCACGCAGCTTCCAATTAAAGCTGTTAGATGAAAGCTAAGTTCACCAGAAAGGAACTTTTGTTGCGGAAACTTGCTGAGCTCTCGCCGTGTTTTTCACGGTTTGCTTTGAATGAAAGGGGTCGTATCATACATTCTGTTATCGCTGTGCTTTTCCTCCCTGTGGTCCACTTATAAACTTAGCGAGCTGCTTCATTGCGTACTGTCAGGAGCTCATCATTGACTGATCTGGACTGCGCTTTAACAGCACATCCTCAGATGTTATATTGAGCGCATCAGCGGCGCACACTCGCACACAAAGCCTTTATAAACCATGAACCAAAGCAATCTTTGAGGAAAATCATAGTGTCACAAACCTAAATTTACAGCACAGCAGCTGCAGAAGT
Associated Phenotype:
Not determined