ZMP

zgc:100957

Ensembl ID:

ENSDARG00000038716

ZFIN ID:

ZDB-GENE-040801-139

Description:

calsequestrin-like [Source:RefSeq peptide;Acc:NP_001003620]

Human Orthologue:

CASQ1

Human Description:

calsequestrin 1 (fast-twitch, skeletal muscle) [Source:HGNC Symbol;Acc:1512]

Mouse Orthologue:

Casq1

Mouse Description:

calsequestrin 1 Gene [Source:MGI Symbol;Acc:MGI:1309468]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa19825	Nonsense	Available for shipment	Available now
sa9737	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa19825

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
ENSDART00000056540	Nonsense	83	553	2	11
ENSDART00000075897	Nonsense	83	276	2	12

Genomic Location (Zv9):

Chromosome 2 (position 37749455)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	38064369
GRCz11	2	38046697

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GAGCTGAATACCAGTAAATGTTGTATTCTTTTGTTACACAGCTTGCTGCA[C/T]AAGTCCTGGCAGACTTTGACGATGAGGATATTGGAATTGGCCTACTCGAT

Long Flanking Sequence:

TGTTTCATCTGTTTCACCCCAGTTCCAAATAATGTTTGGTGCACCTGTTTTCACCTCAGTCCCCTGTTCTTCCAGCTCAGCAGGCACACATAGACCTGCGATTGGTGGAGGCAGCTGTCCATCAGATGGGTCAAGTTTCACACCGATTTAGAAAGTGCAGGAGCAGCGTTCTTGATGGCGGCTTTTATGGATGTAAGACTGTAGACCAAACTAACTACAGTTCTTACAGCATAGCCTGAAATATCTGCACAGGCTGAAAACAAATGTGCTGTCCTGGTCCAACAGTGTGTTTGTATTACCGAAACCAGCTCTAAGGCGGATAATTAGAACATAATAGTTGTGTTGACAGGACACAAACCCTAAAAAGATTAAAACAAGTCCCTTTATATTTGTGTTTCAACATGAACAGCCCTCAACGCAGTTACAACTGAAGCACATACAATTTTTATTGAGCTGAATACCAGTAAATGTTGTATTCTTTTGTTACACAGCTTGCTGCA[C/T]AAGTCCTGGCAGACTTTGACGATGAGGATATTGGAATTGGCCTACTCGATGAGAAGACGGACAAAGCTGTTGCCAAAAAGCTAGGTGTGTGCATTCAAAATGACCATATCTGTGATTTGACAGGCTTTACTCCAGCTAATACTATTTTACTGATGTACTGGAGAACATTTCGATTTAAAAACATTGAATGTTTGAACATAAAAAAATACACCACAGAAGAGATAATCTAAAATAGAAATTCATATAAACTACTAGTCTATTCAAGAGAGGTTTATGTTATGCATCAAAAAAGAATTTGTGTTTATTTATGTCTACTTTTTTAAGGGATTTTTTCACCTAAACATTTAAATTCTGTCATCATTTACTCTCCCTCCACTCCCTACCAAACATTTTTGAGAAATGTCCCCACAGGAACAAAAATGTACTTGTATTACTATACTTGTGGGTGTATCTGGTCCTATGAACACACTGTAAAAATGTTGGGTGCCACTCATTTATGC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa9737

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
ENSDART00000056540	Essential Splice Site	206	553	5	11
ENSDART00000075897	Essential Splice Site	206	276	5	12

Genomic Location (Zv9):

Chromosome 2 (position 37751465)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	38066379
GRCz11	2	38048707

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CAGAGGAGTTTCACCCACACATTAAGTTCTTTGCCACTTTTAATCCAAAG[G/A]TAATTTTTRTAATCTGCACAATTSTGTKTATGCATGGATGTACATRTTAT

Long Flanking Sequence:

CATCTACGATGTACGTGAAATGAACATGACCCTGTTTGTTGTTGTGAACTTTTCATCTTGCATGAAGCAACTTCCTAATCACCTTCACATGTTTTTGTTTACTCTTAAAATGACTTTATGCTCTTCCTTCCTCTTCCCTTTGTTTTCGGCTTGGTCCTCAACATCAACAGTCTGTCTTTTACATCCTTTCCTGATTGACTTTTTTCTCAGGTCATTGAGGATCCAGTTGAGATCATTGGCAACGTACGTGAAATGAAAGGTTTCAATAATATTGAAGAGGATATCAAGCTGGTGGGCTTCTTCAAGAGTGCGAAATCTGACCGTATGTATCAAATCAACATGTAATGGGATTTTTCCCCCTCATAAACCAAACTATTAAGTTGGTATACTGTATAAAAAGTTCACTAGGGGTCTTGTGACTTTTAGACTACCATGAATATGAAGACGCAGCAGAGGAGTTTCACCCACACATTAAGTTCTTTGCCACTTTTAATCCAAAG[G/A]TAATTTTTGTAATCTGCACAATTGTGTTTATGCATGGATGTACATATTATATGGTATTTTTACTTATCTGTTACCAAGTTATAATCTAATTGAAAACTTCAAATCACAGCACATGGAATTTTTTTTGTATAAACGGAAATGTTACCAGTTTTTTTTTTTTTGTTGTTGCTGTTTTTACCTTTTAAACACCCAAAGTGCACACTGCTGTTGCCACAAATACCAGTTTAATTAAGAAATTACCCTTTTTGCTATCACTTTCACTTTTCATGGGTGTAATAGTATTATATGCATGTTCACGTTGCTTGTGGCTTCATACATTTTTTTACTTCATACATCATTAATTAAATTAATAGTAAAAGTAATAAAAGTATTAAAAGCAGCACTTTTATTACTAAACATATTATCAAAAACACCAACCCAAAATAACAGTTTCTCCATTGAATAAACCCTTGCAATGGCTGTTTTCAGGTTGCTCTGAAACTAGGCTTGAAGTTGAATGA

Associated Phenotype:

Not determined