ZMP

cahz

Ensembl ID:

ENSDARG00000011166

ZFIN ID:

ZDB-GENE-980526-39

Description:

Carbonic anhydrase [Source:UniProtKB/Swiss-Prot;Acc:Q92051]

Human Orthologues:

CA1, CA13, CA2, CA3

Human Descriptions:

carbonic anhydrase I [Source:HGNC Symbol;Acc:1368]
carbonic anhydrase II [Source:HGNC Symbol;Acc:1373]
carbonic anhydrase III, muscle specific [Source:HGNC Symbol;Acc:1374]
carbonic anhydrase XIII [Source:HGNC Symbol;Acc:14914]

Mouse Orthologues:

Car1, Car13, Car2, Car3

Mouse Descriptions:

carbonic anhydrase 1 Gene [Source:MGI Symbol;Acc:MGI:88268]
carbonic anhydrase 13 Gene [Source:MGI Symbol;Acc:MGI:1931322]
carbonic anhydrase 2 Gene [Source:MGI Symbol;Acc:MGI:88269]
carbonic anhydrase 3 Gene [Source:MGI Symbol;Acc:MGI:88270]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa32934	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa32934

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
ENSDART00000013411	Nonsense	144	260	4	7

The following transcripts of ENSDARG00000011166 do not overlap with this mutation:

ENSDART00000138073

Genomic Location (Zv9):

Chromosome 2 (position 29196854)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	29498489
GRCz11	2	29482022

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

ACCCAAACTTTGGAGAAGCTGCCAGTAAGCCTGATGGCCTTGCTGTGGTT[G/T]GAGTTTTTCTCAAGGTCAGGATATTATTAAAAAAAAATTAAATAAAAAAA

Long Flanking Sequence:

CTGCCTAAGGAACAGATGCATCATTTTTATAATTATTTGTGTGTGTGTAGCTCTGGCTGGAGGTCCCATCACAGGGATATACAGGTTGAGACAGTTCCATTTCCATTGGGGAAGCAGTGATGACAAGGGATCCGAGCACACTATTGCTGGAACCAAGTTCCCTTGTGAGGTAATGAGAGTTTTTTTTAATTCCCACTATAAAACAGCAGCAACCCTCATTCGGCTGCGCTGAGATTCAGGCCGTTCTAATTCTTGAACATCTCTCCATAATTATAGCTCACTGCTCATGAATATTCTTATGATGTTCTCTTATGAATTTGTAAATGCCCTCTTTTAAATGTGCCAAGATATTAAGTCCATTCAGTACTCCTACCGCATATACTGAATGTTTCATAATAACTATATGTCTCCTCCTTCTTAAGCTTCACCTTGTTCACTGGAACACAAAGTACCCAAACTTTGGAGAAGCTGCCAGTAAGCCTGATGGCCTTGCTGTGGTT[G/T]GAGTTTTTCTCAAGGTCAGGATATTATTAAAAAAAAATTAAATAAAAAAAAAACATGAAACAATAGAAAAAATGTCTGCTTCTGTTTACCAGATCGGCGCTGCAAATCCAAGACTTCAGAAAGTTCTAGATGCCCTTGATGACATCAAATCAAAGGTATGAACAGTACTTTTGGTAAAAGCTGTAGTTATGAACTCGAATAATTAGGACCTGTTTGCACCAAGAATGATAACTATAACTATATTAGCATCCACACCAATCAACATTAATATTGCTTATATTATAAACATGTTGGATAGGTTTCTCCAACCATTTACCCACCTTTCTTTTCATTCTTTTCGCTGCTGAACACATATCAAGAAATTTTGGAGAATACTGGAAATTTATAGCCATTGACTTCAATAGCATTGTCTCACTGTTTTATGTTTTAAATATATGTATTTTATAATGTTCTCAAAACTCATATTGGATCCACTTTAAGGTGCATAAATGATGAGAAAA

Associated Phenotype:

Not determined