ZMP

si:dkey-91i10.2

Ensembl ID:

ENSDARG00000074034

ZFIN ID:

ZDB-GENE-050208-441

Description:

guanine nucleotide exchange factor [Source:RefSeq peptide;Acc:NP_001153137]

Human Orthologues:

AKAP13, ARHGEF18, ARHGEF2, RP11-428C6.1

Human Descriptions:

A kinase (PRKA) anchor protein 13 [Source:HGNC Symbol;Acc:371]
Rho-guanine nucleotide exchange factor [Source:UniProtKB/Swiss-Prot;Acc:Q8N1W1]
Rho/Rac guanine nucleotide exchange factor (GEF) 18 [Source:HGNC Symbol;Acc:17090]
Rho/Rac guanine nucleotide exchange factor (GEF) 2 [Source:HGNC Symbol;Acc:682]

Mouse Orthologues:

Akap13, Arhgef18, Arhgef2, Rgnef

Mouse Descriptions:

A kinase (PRKA) anchor protein 13 Gene [Source:MGI Symbol;Acc:MGI:2676556]
Rho-guanine nucleotide exchange factor Gene [Source:MGI Symbol;Acc:MGI:1346016]
rho/rac guanine nucleotide exchange factor (GEF) 18 Gene [Source:MGI Symbol;Acc:MGI:2142567]
rho/rac guanine nucleotide exchange factor (GEF) 2 Gene [Source:MGI Symbol;Acc:MGI:103264]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa41409	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa41409

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:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000113475	Nonsense	40	599	2	5
ENSDART00000133676	Nonsense	533	1093	3	6

Genomic Location (Zv9):

Chromosome 9 (position 23982740)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	9	23138526
GRCz11	9	22949395

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TGGCAGGTTTCAGGGCCGGGCTGCAGACGCTCCAGCTCAGACGCGGCCTA[T/A]GAGCTGGCGGAGTCTGTTAAGGCCCAGCGTGAGTGTCGTCTGCGGCCCCA

Long Flanking Sequence:

ACTAATTGCAATGCGACAGTATGTAATCACAACCCATTTGCTCATGCTTATTGAGCAAGCTCATACACAAAAAAAGTGAAACAAATGAGGAGGATTGTGGACATAAAATCTAAATCAAGTCATTTTAACATGTCAAAGTCAAATTTATGCATATAAAATATATTTTCCCAACAACAAAATTGTGGCTTGTGAAAATGCTAAGTGGCTAGTAAACTTATAGCTATGAACTGTCCACTTACCAGTTCAACATATTAAAAGGCATCGGTAATGTTACACCCTCTGGACATTGTGGAATTCAGTGATCGATGTCTGAAGCTGTTAGTGGTGTCTTCAATTCTCATTTGTGCTTAGAGATCAGATCTGCCTTCACTGAGGTTTTACACTGTCACATGCATATCTGAGAGCAGCGTTCTGCCATGTGTACAGCCGTCTAACAGATCTCCATCCCGTTGGCAGGTTTCAGGGCCGGGCTGCAGACGCTCCAGCTCAGACGCGGCCTA[T/A]GAGCTGGCGGAGTCTGTTAAGGCCCAGCGTGAGTGTCGTCTGCGGCCCCACTACAGCGACCCCATGCCTGCAGATGCCACCAAGCGGAAGCAGCTGGAGATGAAGATCGCCGCCGCCGCACGCTTGCACATTCACCGCAGAGACAGAGACACTGGTACAACTCAACTCATGTCCTAGTTTGCACTGAGATTATTTCATTGAAAACATTTTAGGCTTGTCTGTAACCCAAGGGTATCACTTTAGTTGTGATTATGCCTCCGTTATTAATAATACTTGGCCGTGGGTGGCATTTATAGTGCCGTCACATGCATAACCTCTACCCTGGAGACTGCTCTTATTTTTCTGCATCATGGCAGCTGGATTCAGTGTGCATATTTGTTTTAGACTTTTAGACAACTCTTTAATGCGTAGAATATTTTAACCCTGTAAGACCTGACATGTCAAAAAAATAGGCAGAAAATTCACATTTTCCGGAACTGAGATGTTTATTAAACTGTCTA

Associated Phenotype:

Not determined