Busch Lab

ZMP

si:ch211-198b21.5

Ensembl ID:
ENSDARG00000031678
ZFIN IDs:
ZDB-GENE-030616-13, ZDB-GENE-030616-13, ZDB-GENE-030616-13, ZDB-GENE-040724-3, ZDB-GENE-081104-515
Description:
collagen alpha-2(V) chain [Source:RefSeq peptide;Acc:NP_001139254]
Human Orthologue:
COL5A2
Human Description:
collagen, type V, alpha 2 [Source:HGNC Symbol;Acc:2210]
Mouse Orthologue:
Col5a2
Mouse Description:
collagen, type V, alpha 2 Gene [Source:MGI Symbol;Acc:MGI:88458]

Alleles

There are 14 alleles of this gene:

Allele Name Consequence Status Availability
sa13820 Nonsense Available for shipment Available now
sa14075 Nonsense Available for shipment Available now
sa13316 Essential Splice Site Available for shipment Available now
sa16186 Essential Splice Site Available for shipment Available now
sa31741 Nonsense Available for shipment Available now
sa11735 Essential Splice Site Available for shipment Available now
sa21557 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa13820
Status:
Available for shipment
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Availability:
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Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000033544 Nonsense 74 171 2 7
ENSDART00000041807 Nonsense 161 1575 2 54
ENSDART00000048817 Nonsense 46 1259 1 45
ENSDART00000144744 Nonsense 107 1521 2 54
Genomic Location (Zv9):
Chromosome 9 (position 43746754)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 42871924
GRCz11 9 42673711
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGTGGAACCATCCTGTGCGATGAGGTACAATGTGATGAGGTGTCGAACTG[T/A]GCAAAGGTAGTGATCCCACCGGGAGAGTGCTGTCCGGTCTGCCAGGGCGA
Long Flanking Sequence:
ATGATTTCTATAAAAACATTATATATATATATATACAGTGAAACAAGCATTGATGTGAATTACATTAAATTAGGAATAAAAAATAAAAAATATTGATCACAATTTCAATCACATGGAAATGTTCTAAAACATTTTATGTATGATTGCACATGTGAGGTTCATGTAATTTTGCAAATTATTACAAAAGTCATCAAGTTTCATACCATTTATATGAAAGATTCTTAAACATTTAAAATGACAGAACAAAGCAAAAGAGCTAACGTCACCACATAATTCTCATTATTAACAGTTTGCCATATAATCTCTCTCTCTGTGTGCATGTGTGAATTATTTACATAGTGTTTTACCTTTTTTCCCTCAGAGGATGAGTTGAGCTGTACAGAGAACGGGCAGGTGTACACAAACAGAGACATCTGGAAACCTGAGCCATGCAGGATCTGTGTTTGTGACAGTGGAACCATCCTGTGCGATGAGGTACAATGTGATGAGGTGTCGAACTG[T/A]GCAAAGGTAGTGATCCCACCGGGAGAGTGCTGTCCGGTCTGCCAGGGCGATGCAGCTGAAGGTGGCAATGGCAGACCAGGTGAGACTGCACCAGAATAAACCTTCAAAACAGATGAAAATTTGGTTTTAATCATCATGTAAATCTGCAGTGGTGTGAATTTTAAGTTTTTGTCTGTTATGTTTCTTCTTGTCAGGAGGCAGAATCGCCAAGGTAAGCTATGTCACAATCAGCACTGTTAACTGTCTCTTATTTCAAAGTACTGTAAATAAGTAAAGAAAAGAAACATTTCTGTTCACTTTTTTTTTTTTTTGCTTTGTTTCTTTATTTCAGGGCCAGAAAGGGGAACCTGGAGTTGTACCACATGTGTGTTAAAATTATTATTTATCTAAATTGTACAAAATATGGATATATAATAATTTTGCATAAATTGTAAAATAATAATTCTGTCTTGATTTCAGATCGTTGGAATAAGAGGTCGTCCTGGACCAATGGTGAGTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14075
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000033544 None None 171 None 7
ENSDART00000041807 Nonsense 567 1575 23 54
ENSDART00000048817 Nonsense 307 1259 16 45
ENSDART00000144744 Nonsense 513 1521 23 54
Genomic Location (Zv9):
Chromosome 9 (position 43736710)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 42861880
GRCz11 9 42663667
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AACATTGCCTTTGTGGCTTTTNAGGGTCCACCAGGATCACAGGGAGTACTT[G/T]GACCTCAGGGAGAGGAGGGAAAACRTGGACCCAGAGGAGATYCTGGTTCT
Long Flanking Sequence:
AAGGCCCAGTGGTATGTAAAAAAAAAATCACATCAACAAATTTAAAATATATAATCTAGATAAATTAAGTTTGAATATTGTCTTTAACAACATATCATTTTATCCAGGGAGTTCCTGGTCCTCAGGGTCCCGTTGGTCTACTTGGGCCAACTGGCCCACCAGGTCCTCAGGGAAGCACTGGACAGCCTGGGATCAAAGGTCAATTGGTAAGGCTTTCTACATTCACACGGTGGCATATACATTTATATTTTTGATGTAAATGTGTATCTGGAAACTCAAAATGAGATAATAGTAAAAACATACCAAATCATCCTTGTTTGTGTGTTCTGTTTAGGGAGATTTAGGTGTTGCTGGATTTAAAGGAGAGGCTGGACCTAAAGGAGAACCTGTAGGTTATGATTTCTAAGTGAAAAAGCTAAGAGGTTGGGTTTTTTTAACACAAGAAAAACAAACATTGCCTTTGTGGCTTTTAGGGTCCACCAGGATCACAGGGAGTACTT[G/T]GACCTCAGGGAGAGGAGGGAAAACGTGGACCCAGAGGAGATCCTGGTTCTATTGGCCCACCTGGACCTGTTGGTGAGAGAGTGAGTCTAGTTTTACATTTTAATGCCTATGCAACAGCAAAATGACATGTATGAAATAGTGAAAATTACTTCAATTTTCAATGTTTTTTTTTTATTCTCTAATAAAGGGGGCACCTGGAAACAGAGGCTTTCCAGGTCAAGATGGCTTACAGGGTCCAAAGGTAATAAGAGAGTTAAATTAGATACAAACTATTAACTTGCTGAATATGATTACCTGAATACTAAAATTATTTTGTTTCGGATCAAAGGGTGCACAAGGAGACCGTGGAACTTCAGGAACCTCTGGCCCTAAAGGTTCAACTGGTGATCCAGGAAGAACAGGTGAACCAGGTCTACCAGGAGCAAGAGTAAGTAAAATTGACCATGCCAATGTGCTATTTTGAGTTTAAAATATAGCTCTGGTTATTTTTTTGCATCCTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13316
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000033544 None None 171 None 7
ENSDART00000041807 Essential Splice Site 732 1575 30 54
ENSDART00000048817 Essential Splice Site 472 1259 23 45
ENSDART00000144744 Essential Splice Site 678 1521 30 54
ENSDART00000033544 None None 171 None 7
ENSDART00000041807 Essential Splice Site 732 1575 30 54
ENSDART00000048817 Essential Splice Site 472 1259 23 45
ENSDART00000144744 Essential Splice Site 678 1521 30 54
Genomic Location (Zv9):
Chromosome 9 (position 43735382)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 42860552
GRCz11 9 42662339
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAATTCAGAGCAACTCTATGAAAACTCTATGTTTTCWTTTTTTGATTTTC[A/T]GGGTACAGCAGGCGAGCGAGGTGAACAGGGACCYCCTGGAATGCACRGTT
Long Flanking Sequence:
ATTGCACATAAAACAGAACAAAACAAACTTAAAATTTTGACAATATTCTAGGGGGATCCAGGAAAGGCAGGTGAGCAGGGATCTGCTGGAGTTCCTGGGCAAAGGGTGAGTAACAGCTATTGAGCTGACAAAAGTATTGATTTGCATTACTCACATTACTAAGACAAACTATCTCAGAACAGCTTAGTAATTAATTGTTGTATCAACAGTATAGCATCTTTAAAGTGTATTATCTTAGTTTTTGAGGTCAAGCTCCACTAACTAAAAATCTAAATATTGTTCTACAAAAAAACAAACTCTATCCTTTAATTTTGACTTTTTATAGGGTCCACCTGGCAAAGATGGAGAAGTAGGCCCAGCTGGTCCACCAGGTCCACATGTAAGGGTCCCATTCCTACTTATACATTAGTGTGTGTGTTGTGATGCTATTGCAATTACAATTAGAAAAGGAAATTCAGAGCAACTCTATGAAAACTCTATGTTTTCATTTTTTGATTTTC[A/T]GGGTACAGCAGGCGAGCGAGGTGAACAGGGACCTCCTGGAATGCACGGTTTCCAGGTGTGTAGTTTGTGTCTTATGAAAATATTTTCTTTTTATGTTATTAGGTCCTATATAATGTGAATCACCTTACCTGTTTTTTAGGGGTTGCCTGGACCAGCAGGTGCTCCTGGGGAGGGAGGAAAACCTGGTGATCAGGTGTGCAGTTAATTGACTAACTTTAACTAAATAATGAATTTCTAGGAAAATACAATGGAGAAACAGCATAAAACAATGCTAACCAGGAACATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTTAAGGGTATCCCTGGTGAGGGTGGTCCAGTTGGCCAAATTGGACCAAGGGTGAGATCTTGTTTTACCTCTGTAAAAACATCTTTGTGGTCATTATCTATCGTTCATGGTAAACTGAATGATTTAACAGGGTGAACGTGGAATCCCTGGAGAGAGAGGAGAGTTGGGACCTGCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16186
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000033544 None None 171 None 7
ENSDART00000041807 Essential Splice Site 732 1575 30 54
ENSDART00000048817 Essential Splice Site 472 1259 23 45
ENSDART00000144744 Essential Splice Site 678 1521 30 54
ENSDART00000033544 None None 171 None 7
ENSDART00000041807 Essential Splice Site 732 1575 30 54
ENSDART00000048817 Essential Splice Site 472 1259 23 45
ENSDART00000144744 Essential Splice Site 678 1521 30 54
Genomic Location (Zv9):
Chromosome 9 (position 43735382)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 42860552
GRCz11 9 42662339
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAATTCAGAGCAACTCTATGAAAACTCTATGTTTTCWTTTTTTGATTTTC[A/T]GGGTACAGCAGGCGAGCGAGGTGAACAGGGACCYCCTGGAATGCACRGTT
Long Flanking Sequence:
ATTGCACATAAAACAGAACAAAACAAACTTAAAATTTTGACAATATTCTAGGGGGATCCAGGAAAGGCAGGTGAGCAGGGATCTGCTGGAGTTCCTGGGCAAAGGGTGAGTAACAGCTATTGAGCTGACAAAAGTATTGATTTGCATTACTCACATTACTAAGACAAACTATCTCAGAACAGCTTAGTAATTAATTGTTGTATCAACAGTATAGCATCTTTAAAGTGTATTATCTTAGTTTTTGAGGTCAAGCTCCACTAACTAAAAATCTAAATATTGTTCTACAAAAAAACAAACTCTATCCTTTAATTTTGACTTTTTATAGGGTCCACCTGGCAAAGATGGAGAAGTAGGCCCAGCTGGTCCACCAGGTCCACATGTAAGGGTCCCATTCCTACTTATACATTAGTGTGTGTGTTGTGATGCTATTGCAATTACAATTAGAAAAGGAAATTCAGAGCAACTCTATGAAAACTCTATGTTTTCATTTTTTGATTTTC[A/T]GGGTACAGCAGGCGAGCGAGGTGAACAGGGACCTCCTGGAATGCACGGTTTCCAGGTGTGTAGTTTGTGTCTTATGAAAATATTTTCTTTTTATGTTATTAGGTCCTATATAATGTGAATCACCTTACCTGTTTTTTAGGGGTTGCCTGGACCAGCAGGTGCTCCTGGGGAGGGAGGAAAACCTGGTGATCAGGTGTGCAGTTAATTGACTAACTTTAACTAAATAATGAATTTCTAGGAAAATACAATGGAGAAACAGCATAAAACAATGCTAACCAGGAACATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTTAAGGGTATCCCTGGTGAGGGTGGTCCAGTTGGCCAAATTGGACCAAGGGTGAGATCTTGTTTTACCTCTGTAAAAACATCTTTGTGGTCATTATCTATCGTTCATGGTAAACTGAATGATTTAACAGGGTGAACGTGGAATCCCTGGAGAGAGAGGAGAGTTGGGACCTGCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31741
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000033544 None None 171 None 7
ENSDART00000041807 Nonsense 1040 1575 42 54
ENSDART00000048817 Nonsense 729 1259 33 45
ENSDART00000144744 Nonsense 986 1521 42 54
Genomic Location (Zv9):
Chromosome 9 (position 43733036)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 42858206
GRCz11 9 42659993
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GACGCCAAGGAGAAAGAGGCCCCCCTGGGCCTGCTGGAGGCCCTGGGGAC[A/T]AAGGAGATTCTGGAGAAGATGGACCACCAGTAAGTGCGCATCAGACATTT
Long Flanking Sequence:
TGATAAAATGTTTCTATAATAAATCAAATGATACTGAATTATCTTAATTAGTATACTGAATTACAAATTAGAAATCTCCTTCTAATATCTGTAACTACAGGGTAAACTTGGTGTTGCTGGACCAAAGGGTGGTAGAGGAACACAGGGGGCACCAGTAAGTGGTTAAATGCATAACAAGGATAATTCCATTTGAATGAAATGCAAATTAACATACCTCAATGTTTAGGGTCCAACCGGGTTTCCTGGATCTGCTGGAAGGGTTGGCCCACCTGGTCCAACAGTAAGTTGCATTGACAACAGTTTCACAATAACAAATAAGATTATATATCAAAAAAAATATTCTTTAAACTCTTAACTGTGTTTTTTAGGGTCCTATTGGTGAACCAGGTCCTCTTGGTCTTCCTGGAAAAGAGGGTCCACCTGGACTTCGAGGAGACCATGGACCTCCAGGACGCCAAGGAGAAAGAGGCCCCCCTGGGCCTGCTGGAGGCCCTGGGGAC[A/T]AAGGAGATTCTGGAGAAGATGGACCACCAGTAAGTGCGCATCAGACATTTCTCAACTGAACTAATAAGTCTAAAAACAAACAAAAATTATCTTTGTTATTTCCATTAGGGACCTGACGGTCCACCCGGTCCTGCAGGAACAACAGGGCAAAGAGGAATTGTAGGCCTTCCTGGTCAAAGAGGAGAGCGTGGAATGGCAGGACTCCCTGGACCTGCAGTTAGTATCCATTAAAAACATTTAAAATTATGAAAAAAGTTCTCAAACAGGTAGTTGTTGTATGCTGAAATACAAGATTACTGATAGGGCAGAATGGTGACTTAGTGGTGAGCATTGTCGCCTCACAGCAAGAAGGTCACTGGTTTGAGTCCAAGCTTGACTACTTGCTGTTTCTAATCTTCTTTATCTCCTTTTTCTCATAAAGGGTCCTCCAGGAAAACAGGGTACATCAGGAGCCCCTGGAGACAAAGGACCACCTGGCCCTGTTGGAGTGCCGGGTGCTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11735
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000033544 None None 171 None 7
ENSDART00000041807 Essential Splice Site 1085 1575 43 54
ENSDART00000048817 Essential Splice Site 774 1259 34 45
ENSDART00000144744 Essential Splice Site 1031 1521 43 54
Genomic Location (Zv9):
Chromosome 9 (position 43732818)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 42857988
GRCz11 9 42659775
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCCTGGTCAAAGAGGAGAGYGTGGAATGGCAGGACTCCCTGGACCTGCAG[T/G]TAGTATCCATTAAAAANCATTTAAAATTATGAAAAAAGTTCTCAAACAGGT
Long Flanking Sequence:
ATGTTTAGGGTCCAACCGGGTTTCCTGGATCTGCTGGAAGGGTTGGCCCACCTGGTCCAACAGTAAGTTGCATTGACAACAGTTTCACAATAACAAATAAGATTATATATCAAAAAAAATATTCTTTAAACTCTTAACTGTGTTTTTTAGGGTCCTATTGGTGAACCAGGTCCTCTTGGTCTTCCTGGAAAAGAGGGTCCACCTGGACTTCGAGGAGACCATGGACCTCCAGGACGCCAAGGAGAAAGAGGCCCCCCTGGGCCTGCTGGAGGCCCTGGGGACAAAGGAGATTCTGGAGAAGATGGACCACCAGTAAGTGCGCATCAGACATTTCTCAACTGAACTAATAAGTCTAAAAACAAACAAAAATTATCTTTGTTATTTCCATTAGGGACCTGACGGTCCACCCGGTCCTGCAGGAACAACAGGGCAAAGAGGAATTGTAGGCCTTCCTGGTCAAAGAGGAGAGCGTGGAATGGCAGGACTCCCTGGACCTGCAG[T/G]TAGTATCCATTAAAAACATTTAAAATTATGAAAAAAGTTCTCAAACAGGTAGTTGTTGTATGCTGAAATACAAGATTACTGATAGGGCAGAATGGTGACTTAGTGGTGAGCATTGTCGCCTCACAGCAAGAAGGTCACTGGTTTGAGTCCAAGCTTGACTACTTGCTGTTTCTAATCTTCTTTATCTCCTTTTTCTCATAAAGGGTCCTCCAGGAAAACAGGGTACATCAGGAGCCCCTGGAGACAAAGGACCACCTGGCCCTGTTGGAGTGCCGGGTGCTAATGGACCTCGGGGAGATCCTGGACCTGATGTAAAAAAATCTTAATATAATTGTTCATTAAATTTAACAGCTACTTTACACAATAAAAAGTTGTATATTTAAATGCATTAAAAAAAAAAAACATTTTAATTACCAGGGACCCGCTGGATCTGATGGCCCACCAGGAAAAGAAGGTGTCATAGGAGCCCAGGTGAGGACAAAAAACACTGAATGACCCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21557
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000033544 None None 171 None 7
ENSDART00000041807 Nonsense 1213 1575 48 54
ENSDART00000048817 Nonsense 902 1259 39 45
ENSDART00000144744 Nonsense 1159 1521 48 54
Genomic Location (Zv9):
Chromosome 9 (position 43731818)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 42856988
GRCz11 9 42658775
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAGGACCAAGGGGAGATAAGGGTGATATTGGTGACCATGGGGAAAGAGGA[C/T]AGAAGGGTCATAGAGGATTTGCAGGCTTACAAGGTCTTCCTGGATCACCT
Long Flanking Sequence:
TGTCTATGTCTTCATTTCAGTCTGTTTATGCCAATCTCACAGAGCTGTTTAAAATTTAAAGGGTGATCGAGGAGATCCAGGCCCAGAGGGTGTGCTTGGAACTGTAGGACAGCCTGGGCCCCCTGGTCCTGTTGGTGCAACTGGGGGGGTTGGAAAGAGAGGAGAGCCTGTGCGTCTCATATTTTCCTTAAAATAATCATATAATAAATTAAACACGTAATGGAATGCCATGTCTAAAGGATTCTGACTTACATTTTTCTTGGTGTTGTTCTACAGGGTTCAAAAGGACCCTCTGGCCCTCCAGGTCCAGCTGGAAAACGAGGACTCACAGTAAGAAATCAGCAAAACAACACAATTTAACATATTAAGAATGGCTTACTTGACCGAAAATTTGCAGAAAAAAACAACACAACTACTCCCTCATTTTAAAATGTCTTTTTAAGGGACCACAAGGACCAAGGGGAGATAAGGGTGATATTGGTGACCATGGGGAAAGAGGA[C/T]AGAAGGGTCATAGAGGATTTGCAGGCTTACAAGGTCTTCCTGGATCACCTGTAAGTTTTTAGAGAGATTAAAAAAAAACTTAAAGAGAAACTAAAAGAAAATATTTAAACACAGTCTAAATATTGTGATATATAACACTAACCAATATAAGCATGTCAAATGAATAATTGACAAATTGCCTTTTTTAGGGCACAACTGGAGAACAAGGGGCCACAGGCATTGTTGGTCCAAGTGGACAAAGAGTATGTCTCCAGCTTAATTAGCCTAACCCTAATGCAACTGATTTATTACTAGTCAAAAAGTGACTGACAACATTTAAATAATTTGTCTCACAGGGACCTCCTGGACCTATTGGGCCACCAGGAAAGGAAGGCTACATTGGGCAACCTGGACCAATGGGACCTCCTGGTTCAAGAGGATCTAGTGGGGATATTGGACCAGAGGCAAGTTACTTGTTTCCAAATAGCTCAAATAACATTAAAACTTTGCCCACTCATTTT
Associated Phenotype:
Not determined