Busch Lab

ZMP

camsap1a

Ensembl ID:
ENSDARG00000019208
ZFIN ID:
ZDB-GENE-060518-4
Description:
calmodulin regulated spectrin-associated protein 1a [Source:RefSeq peptide;Acc:NP_001159727]
Human Orthologue:
CAMSAP1
Human Description:
calmodulin regulated spectrin-associated protein 1 [Source:HGNC Symbol;Acc:19946]
Mouse Orthologue:
Camsap1
Mouse Description:
calmodulin regulated spectrin-associated protein 1 Gene [Source:MGI Symbol;Acc:MGI:3036242]

Alleles

There are 7 alleles of this gene:

Allele Name Consequence Status Availability
sa10577 Essential Splice Site, Splice Site Available for shipment Available now
sa15949 Nonsense Available for shipment Available now
sa32329 Nonsense Available for shipment Available now
sa15175 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa10577
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 > A
Consequence:
Essential Splice Site, Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000028104 None None 1083 None 13
ENSDART00000102643 Essential Splice Site 53 1458 None 19
ENSDART00000128995 Splice Site None 1444 None 17
ENSDART00000129355 Essential Splice Site 53 813 None 13
ENSDART00000137404 None None 1429 None 18
Genomic Location (Zv9):
Chromosome 21 (position 5019101)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 4596513
GRCz11 21 4761078
KASP Assay ID:
2261-5170.1 (used for ordering genotyping assays)
KASP Sequence:
AAAATAGAAGCAAACCTCCGCTGGTTGTTCGCCAAAGCAWATGGTGAAGG[T/A]AAGAGTGRCACCCTTGAACATACAATATACAGTTGAAKTCAGAATTGTTA
Long Flanking Sequence:
ACAGAAACCCAAAAAAATGTAAAATGATATGGTCTTTATATCATTAAAAAATTATTTTAATTTAAAGTTACAAACTACTTTTTTTGTGTCTACATTAAATTTTTTTATGTTGTTATATTAAAGCAGGAAAAGGCTTAATAAATGTATTGTTGTTGTTGTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTAATGCTGAAATTTAAATGGCAAACAAATACAGATAAATAAATAAACTATAATCCAGACTCAACATTGCACATCCTGCGGTGTGACTGTTGCAGCCCTAATATGTAGTAACATCTAAAACTGTTTGTGTGTTTTTAGGATGGATGTAGGAGCGCTTGCAGCTGGGGATGGTGGCCCGAGAAGAGCGGATTCGGTTGAGGGAGGGCTTGAAATCGCACCACTGGAAATGTACGACTCGGCCCGAGCAAAAATAGAAGCAAACCTCCGCTGGTTGTTCGCCAAAGCATATGGTGAAGG[T/A]AAGAGTGGCACCCTTGAACATACAATATACAGTTGAATTCAGAATTGTTAGTCTTTTCCTCATACATTTCCCAAAGGATTTTTAACAGAGCAAGGAATTTTTCACGGTGTTTCCTATAATTATTTTTTCTTCTGGGGAAAGTCTTAATTGTTTTATTTCGGCTAAAATAAAAGCAGTTTTTGTTTTTTTTAAAAAAACATTTTAAGGTCAAAATTATTAGCCCCTTTAAGCAATATTTTTTCTGATTGTCTACAGAACAAACCATCATTATACAATGACTTGCCTAATTACCTTAACTTACCTAATTAATCCAATAAGTCTTTAAATGGCACTTTAAGATGAATACTAGTATCTTAAAAATAATTGTAAAATATGATGTACTTTCATCATGGCAAAGATAAAATAACTCTATAATAATTCAGGAGGGATAATAATTCAGTAGGAATAATAATTCTGAGTTTAACTGTAGATGGGTGCTTCAAAGCAAAATTAAACCAGCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15949
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
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Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000028104 Nonsense 430 1083 11 13
ENSDART00000102643 Nonsense 453 1458 11 19
ENSDART00000128995 Nonsense 444 1444 10 17
ENSDART00000129355 Nonsense 453 813 12 13
ENSDART00000137404 Nonsense 430 1429 11 18
Genomic Location (Zv9):
Chromosome 21 (position 4985779)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 4563191
GRCz11 21 4727756
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATGTGTSTCTGTTATTCTGTGAGCAGAGCTCAGGAACAGGTCAAACTCTT[T/A]ATCCCGTATGGATGGACTCGGACTTGGNNNNNNGCTTGGATCACAGCTTTYCTGGA
Long Flanking Sequence:
CGTCTTGTACATGTCTTAAACAATTAAACCAAAATAATTCAAACTTTAACCTAACCTAAACTTACTCCTATCCTAACAAACCATACATCAACTGAAAGATCATTTATTTACCTTGTATAAATCGCAAAAAAAAATAATAATAATAATTATACTTACGGCTGGTTTTGAGGTAAAGGGTCACATATATTCATTATACCATCAGTAAAACATCAGATTTAATGTTGACCAAAAACTTTTGCACAGTACTGTATATAGTGATATTGTTTATAAAGCTGATTTTTTTTCTTTTTCAGAACAAACAGAAGCCCCACCCACAGCCCCTTCCACCCGCTCCTCCCACTGCGGCAGAGACAGCAGAAGCCCACTCAAGGGGACGAGATTTCAGGTAACAATCAAAACTAAAGCTTAACTAGATGATGAGATTGATTGCATTGATTAGTTCCCTCTCTAATGTGTCTCTGTTATTCTGTGAGCAGAGCTCAGGAACAGGTCAAACTCTT[T/A]ATCCCGTATGGATGGACTCGGACTTGGGCTTGGATCACAGCTTTCCTGGACAGATCGGAAACAAAGGTTAGGGTCAGGTCATATTTCATTGGTGTTAATACATATAGCTATTAAATGATAGTATAAGTATATATGATAGATTGAGTATAAACACTTTAAAGTTCAAATAGGAAATCTGACTAAAAATAAGTGAAAGCTATTAAAACCTTAACTAAATCATTTGAAAGCTAAATGGCAATACTAAAACAAACTGATAAAATAAACAAAACAAGTGAGCACAACAGCATATCACTGACATTATAAACAAATCAATTCTTTACTTGCAATATTAATACTATAATTTACTATTACTGTAAATTTTATTGTCCCTTTTTGGGGTGATTTGTTCTGCAGCGTAATAGATTTACAACATATATATCATATCACACACTTAAAGAGCCCCTATTTTGCATTACAAAAGGTCATATTTTGATTTTGGGGGTCTCCAACAACAGGATGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32329
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000028104 Nonsense 451 1083 11 13
ENSDART00000102643 Nonsense 474 1458 11 19
ENSDART00000128995 Nonsense 465 1444 10 17
ENSDART00000129355 Nonsense 474 813 12 13
ENSDART00000137404 Nonsense 451 1429 11 18
Genomic Location (Zv9):
Chromosome 21 (position 4985717)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 4563129
GRCz11 21 4727694
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGGACTCGGACTTGGGCTTGGATCACAGCTTTCCTGGACAGATCGGAAA[C/T]AAAGGTTAGGGTCAGGTCATATTTCATTGGTGTTAATACATATAGCTATT
Long Flanking Sequence:
TACTCCTATCCTAACAAACCATACATCAACTGAAAGATCATTTATTTACCTTGTATAAATCGCAAAAAAAAATAATAATAATAATTATACTTACGGCTGGTTTTGAGGTAAAGGGTCACATATATTCATTATACCATCAGTAAAACATCAGATTTAATGTTGACCAAAAACTTTTGCACAGTACTGTATATAGTGATATTGTTTATAAAGCTGATTTTTTTTCTTTTTCAGAACAAACAGAAGCCCCACCCACAGCCCCTTCCACCCGCTCCTCCCACTGCGGCAGAGACAGCAGAAGCCCACTCAAGGGGACGAGATTTCAGGTAACAATCAAAACTAAAGCTTAACTAGATGATGAGATTGATTGCATTGATTAGTTCCCTCTCTAATGTGTCTCTGTTATTCTGTGAGCAGAGCTCAGGAACAGGTCAAACTCTTTATCCCGTATGGATGGACTCGGACTTGGGCTTGGATCACAGCTTTCCTGGACAGATCGGAAA[C/T]AAAGGTTAGGGTCAGGTCATATTTCATTGGTGTTAATACATATAGCTATTAAATGATAGTATAAGTATATATGATAGATTGAGTATAAACACTTTAAAGTTCAAATAGGAAATCTGACTAAAAATAAGTGAAAGCTATTAAAACCTTAACTAAATCATTTGAAAGCTAAATGGCAATACTAAAACAAACTGATAAAATAAACAAAACAAGTGAGCACAACAGCATATCACTGACATTATAAACAAATCAATTCTTTACTTGCAATATTAATACTATAATTTACTATTACTGTAAATTTTATTGTCCCTTTTTGGGGTGATTTGTTCTGCAGCGTAATAGATTTACAACATATATATCATATCACACACTTAAAGAGCCCCTATTTTGCATTACAAAAGGTCATATTTTGATTTTGGGGGTCTCCAACAACAGGATGATATGCGTGCAAGGTCAAAAAACTCTTTTTACTGTCTTATAATATGCATTTATTTGTTAACTAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15175
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
ENSDART00000028104 Nonsense 790 1083 12 13
ENSDART00000102643 Nonsense 813 1458 12 19
ENSDART00000128995 Nonsense 804 1444 11 17
ENSDART00000129355 Nonsense 813 813 13 13
ENSDART00000137404 Nonsense 790 1429 12 18
Genomic Location (Zv9):
Chromosome 21 (position 4982484)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 4559896
GRCz11 21 4724461
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATTTACGAATGCAGTTGGARGAGAAACGCCRTGCTATTGAGTTACAGAAA[A/T]AAAGGATGGAAAATCTGTCAGCACGCCAAAGGYTGCAGCTGGGAAAAGCA
Long Flanking Sequence:
ACAGTCCACTTGGAGGCTGGGAGGACGTGATCTCGGATTCAGAGTTTGAGGAGGATGATGATATTCAAGATGTTCCAGAGCAAGAACTGTCCAAAGCTCTTCTGATGATGCATGCTGGGAAGAAATGCATGGGTTTTGGAGAGGAAGAGGAATCTGTGAAACTCTGCGAGGATGTTTGTATACGCGAACGAGATGATAAGGAAGGTGCGAGCGGCCGAGCAAGTCCTTGTCCCAGTGTGATGTCACAGGCTAGTAGTACCTCAACTGGAACTGGCCGCATGACAAGTTTTGCAGAACGCCGCAGGCATCGAGTTGGGTTTCCCGATGGTTGTTACAGCACCGGAAGCTCACAGACGACAACTCCTGATGGATCCGAAAGCTTGCATTTCCCTGCGGACGCAAGTCCAGGAACTCCAAGCGGCCGACCTGTGGTTGCTTCCGAACTTGTTCATTTACGAATGCAGTTGGAAGAGAAACGCCGTGCTATTGAGTTACAGAAA[A/T]AAAGGATGGAAAATCTGTCAGCACGCCAAAGGTTGCAGCTGGGAAAAGCAGCATTTTTGCATGTGGTTAAAAAGGGGAGGAGCGACACACTGCCACACCCACTCAAAACGGAGATTACGTTTAAAGAGAAGCCAATTGCGAAAGACGACACTTGCGTTGAGATTCTGAAACCTCGAAGAAAGGACTCTGAGTGTAAAGAGACACCATCAGAGGAGGATAAAGACAATCGTGTTGCAGCAGGGGGTGGAGCTTTAGATGAAGTGGGCGGAGAGCCAGATCTCAGCGAATGTAGCCGCTCTATTGAACTATTAAACGAAGCAATTGGAGCGATTCAGCAGCAAATGATGCAGCTGTCCTTCCAGCAGGACTTGCTCATGAAACAAACCGTCCAGCCGCCGCAAGAACCTTCGCTAACCAAACCAAACACTGTGACGCCTTTAAACGAACAGCATCCGGAGACTAAATCTCGGCTTTCTGTGCAATTCACGGAAACGCTTTCG
Associated Phenotype:
Not determined