zgc:171226

Ensembl ID:
ENSDARG00000044973
ZFIN ID:
ZDB-GENE-070822-8
Description:
hypothetical protein LOC100124615 [Source:RefSeq peptide;Acc:NP_001096111]
Human Orthologues:
KRT14, KRT16, KRT20, KRT23
Human Descriptions:
keratin 14 [Source:HGNC Symbol;Acc:6416]
keratin 16 [Source:HGNC Symbol;Acc:6423]
keratin 20 [Source:HGNC Symbol;Acc:20412]
keratin 23 (histone deacetylase inducible) [Source:HGNC Symbol;Acc:6438]
Mouse Orthologues:
Krt14, Krt16, Krt20, Krt23
Mouse Descriptions:
keratin 14 Gene [Source:MGI Symbol;Acc:MGI:96688]
keratin 16 Gene [Source:MGI Symbol;Acc:MGI:96690]
keratin 20 Gene [Source:MGI Symbol;Acc:MGI:1914059]
keratin 23 Gene [Source:MGI Symbol;Acc:MGI:2148866]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa12951 Nonsense Available for shipment Available now
sa11396 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa12951
Current 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
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000066108 Nonsense 261 427 5 9
ENSDART00000104264 Nonsense 238 361 4 8
ENSDART00000123323 Nonsense 196 319 6 10
ENSDART00000132291 Nonsense 238 391 4 8
ENSDART00000134806 Nonsense 238 361 4 8

The following transcripts of ENSDARG00000044973 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 11 (position 11632179)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 11527182
GRCz11 11 11510803
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CACTATGAGACTGTGACACAGAAAAACCGTGAAGAGCTGGAGTCCTGGTA[T/A]GAAAGCAAGGTGAAGTAAAAAAAAAAAAAAAAAAACTCTTGCACTCAACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11396
Current 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:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000066108 Essential Splice Site 306 427 None 9
ENSDART00000104264 Essential Splice Site 283 361 None 8
ENSDART00000123323 Essential Splice Site 241 319 None 10
ENSDART00000132291 Essential Splice Site 283 391 None 8
ENSDART00000134806 Essential Splice Site 283 361 None 8

The following transcripts of ENSDARG00000044973 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 11 (position 11634141)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 11529144
GRCz11 11 11512765
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAGCACCTTACAAAGACTGCAGATTGAGCTGCAAACCCAWCAGAGCATGG[T/A]AAACCTGTACACACTTACAAACACACAATTGATTTTATTGCAANNNNNNN
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Height: Identification of 15 loci influencing height in a Korean population. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

Short-link