Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00577:Arhgef6'

332685

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgef6

Ensembl Gene

ENSMUSG00000031133

Gene Name

Rac/Cdc42 guanine nucleotide exchange factor 6

Synonyms

1600028C08Rik, 4930592P22Rik, alpha-PIX, 1700038J06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00577

Quality Score

Status

Chromosome

Chromosomal Location

56276845-56384089 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 56290992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033468] [ENSMUST00000114735] [ENSMUST00000176986]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000033468

SMART Domains

Protein: ENSMUSP00000033468
Gene: ENSMUSG00000031133

Domain	Start	End	E-Value	Type
CH	27	130	2.71e-21	SMART
Pfam:RhoGEF67_u1	138	183	4.4e-11	PFAM
SH3	186	241	7.33e-24	SMART
RhoGEF	268	443	1.04e-47	SMART
PH	473	573	1.02e-10	SMART
Pfam:RhoGEF67_u2	593	701	4e-65	PFAM
Pfam:betaPIX_CC	700	788	5.1e-41	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000114735

SMART Domains

Protein: ENSMUSP00000110383
Gene: ENSMUSG00000031133

Domain	Start	End	E-Value	Type
RhoGEF	5	180	1.04e-47	SMART
PH	210	310	1.02e-10	SMART
low complexity region	311	336	N/A	INTRINSIC
low complexity region	396	407	N/A	INTRINSIC
PDB:3L4F\|C	418	476	2e-17	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151768

Predicted Effect

probably null
Transcript: ENSMUST00000175900

Predicted Effect

probably benign
Transcript: ENSMUST00000176986

SMART Domains

Protein: ENSMUSP00000134851
Gene: ENSMUSG00000031133

Domain	Start	End	E-Value	Type
SH3	9	64	7.33e-24	SMART
RhoGEF	91	266	1.04e-47	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific mental retardation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a truncated allele exhibit decreased mature lymphocyte cell numbers, decreased B and T cell proliferation, and defective humeral response. Mice homozygous for a reporter allele exhibit abnormal dendrite morphology and synaptic plasticity and cognitive defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang6	T	A	14: 44,239,458 (GRCm39)	Y90F	probably benign	Het
Ccdc88a	A	G	11: 29,374,772 (GRCm39)	E115G	probably damaging	Het
Ceacam12	T	A	7: 17,801,186 (GRCm39)	V55E	probably damaging	Het
Depdc1a	A	T	3: 159,228,375 (GRCm39)	R376*	probably null	Het
Dop1a	A	T	9: 86,402,999 (GRCm39)	I1398F	probably damaging	Het
Eif2s1	T	G	12: 78,913,420 (GRCm39)	N40K	possibly damaging	Het
Epb41	T	A	4: 131,702,042 (GRCm39)	H531L	probably benign	Het
Frrs1	T	A	3: 116,696,049 (GRCm39)	W523R	probably damaging	Het
Gpatch8	T	C	11: 102,369,704 (GRCm39)	D1278G	probably damaging	Het
Mybpc1	C	T	10: 88,372,246 (GRCm39)	A795T	probably damaging	Het
Nrdc	T	C	4: 108,903,884 (GRCm39)		probably benign	Het
Os9	C	T	10: 126,933,845 (GRCm39)	R524K	probably benign	Het
Pisd	T	C	5: 32,895,756 (GRCm39)	I441V	probably benign	Het
Plekha5	T	A	6: 140,515,822 (GRCm39)		probably benign	Het
Prnp	A	G	2: 131,779,031 (GRCm39)	R228G	probably benign	Het
Prrc2c	G	A	1: 162,525,685 (GRCm39)	P307L	unknown	Het
Prss1	T	C	6: 41,439,645 (GRCm39)	V126A	possibly damaging	Het
Ptpn21	G	A	12: 98,699,860 (GRCm39)	S18F	probably damaging	Het
Setdb1	T	C	3: 95,245,888 (GRCm39)	D678G	probably damaging	Het
Sltm	G	T	9: 70,486,624 (GRCm39)	V430L	probably damaging	Het
Sphkap	A	G	1: 83,256,565 (GRCm39)	S395P	probably damaging	Het
Tas2r119	T	C	15: 32,177,599 (GRCm39)	I55T	probably damaging	Het
Tmc3	A	C	7: 83,252,682 (GRCm39)	E361A	probably null	Het
Uggt2	A	T	14: 119,272,312 (GRCm39)	S922T	possibly damaging	Het
Znhit1	A	T	5: 137,011,437 (GRCm39)	Y125*	probably null	Het

Other mutations in Arhgef6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02049:Arhgef6	APN	X	56,321,271 (GRCm39)	missense	probably damaging	0.99
IGL02502:Arhgef6	APN	X	56,325,623 (GRCm39)	missense	probably damaging	1.00
IGL02584:Arhgef6	APN	X	56,291,738 (GRCm39)	unclassified	probably benign
IGL03038:Arhgef6	APN	X	56,290,966 (GRCm39)	missense	probably benign	0.00
IGL03294:Arhgef6	APN	X	56,382,338 (GRCm39)	missense	possibly damaging	0.52
R1382:Arhgef6	UTSW	X	56,383,922 (GRCm39)	missense	probably benign	0.01
R1385:Arhgef6	UTSW	X	56,383,922 (GRCm39)	missense	probably benign	0.01
R1388:Arhgef6	UTSW	X	56,383,922 (GRCm39)	missense	probably benign	0.01
R1432:Arhgef6	UTSW	X	56,383,922 (GRCm39)	missense	probably benign	0.01
R1500:Arhgef6	UTSW	X	56,383,922 (GRCm39)	missense	probably benign	0.01
R1503:Arhgef6	UTSW	X	56,383,922 (GRCm39)	missense	probably benign	0.01
R1556:Arhgef6	UTSW	X	56,383,922 (GRCm39)	missense	probably benign	0.01
R1749:Arhgef6	UTSW	X	56,383,922 (GRCm39)	missense	probably benign	0.01
R1764:Arhgef6	UTSW	X	56,383,922 (GRCm39)	missense	probably benign	0.01
R1767:Arhgef6	UTSW	X	56,383,922 (GRCm39)	missense	probably benign	0.01
R2010:Arhgef6	UTSW	X	56,344,865 (GRCm39)	missense	possibly damaging	0.95
R4928:Arhgef6	UTSW	X	56,280,238 (GRCm39)	missense	probably damaging	1.00
Z1177:Arhgef6	UTSW	X	56,349,984 (GRCm39)	start gained	probably benign

Posted On

2015-08-05