Mutagenetix > Incidental Mutation

Incidental Mutation 'R1749:Arhgef6'

194242

Institutional Source

Beutler Lab

Gene Symbol

Arhgef6

Ensembl Gene

ENSMUSG00000031133

Gene Name

Rac/Cdc42 guanine nucleotide exchange factor 6

Synonyms

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

MMRRC Submission

039781-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1749 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

56276845-56384089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56383922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 5 (M5V)

Ref Sequence

ENSEMBL: ENSMUSP00000033468 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000033468
AA Change: M5V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000033468
Gene: ENSMUSG00000031133
AA Change: M5V

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

noncoding transcript
Transcript: ENSMUST00000135098

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.4%
20x: 93.0%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak5	A	T	3: 152,178,557 (GRCm39)	M486K	probably damaging	Het
Aspn	A	T	13: 49,705,261 (GRCm39)	D41V	probably benign	Het
Atp8a2	C	A	14: 60,097,623 (GRCm39)	E802*	probably null	Het
Barhl2	T	C	5: 106,605,572 (GRCm39)	S46G	unknown	Het
Cacna1e	A	G	1: 154,319,746 (GRCm39)	V1318A	probably damaging	Het
Ccdc69	T	C	11: 54,941,979 (GRCm39)	R176G	probably null	Het
Cdan1	T	C	2: 120,560,280 (GRCm39)	N321S	probably damaging	Het
Cep85l	T	C	10: 53,154,250 (GRCm39)	D681G	probably damaging	Het
Cntrob	A	T	11: 69,213,700 (GRCm39)	V30E	probably damaging	Het
Csmd3	C	T	15: 47,449,056 (GRCm39)	G3646E	probably damaging	Het
Cx3cl1	A	G	8: 95,506,789 (GRCm39)		probably null	Het
Dab1	A	T	4: 104,185,495 (GRCm39)		probably benign	Het
Dennd2c	T	C	3: 103,039,352 (GRCm39)	S167P	possibly damaging	Het
Dock2	A	G	11: 34,182,767 (GRCm39)		probably null	Het
Dok3	GCC	GC	13: 55,672,168 (GRCm39)		probably null	Het
Ebf1	A	T	11: 44,798,835 (GRCm39)	I287L	possibly damaging	Het
Eci1	G	A	17: 24,645,721 (GRCm39)		probably null	Het
Emb	T	A	13: 117,386,242 (GRCm39)	I133N	possibly damaging	Het
Fam91a1	A	G	15: 58,298,443 (GRCm39)	I184V	probably benign	Het
Fbn2	T	C	18: 58,183,348 (GRCm39)	D1779G	probably benign	Het
Fgfr4	T	A	13: 55,315,605 (GRCm39)		probably null	Het
Flt1	G	A	5: 147,591,929 (GRCm39)	T511M	probably benign	Het
Gys1	T	C	7: 45,089,456 (GRCm39)	L205P	probably damaging	Het
Hepacam2	A	G	6: 3,483,379 (GRCm39)	V134A	probably damaging	Het
Htr3a	A	G	9: 48,812,233 (GRCm39)	V291A	probably damaging	Het
Ip6k3	T	A	17: 27,364,053 (GRCm39)	T332S	probably benign	Het
Klra6	A	T	6: 129,995,915 (GRCm39)	F148I	probably damaging	Het
Kntc1	T	C	5: 123,927,162 (GRCm39)	S1206P	probably benign	Het
Mbnl2	T	A	14: 120,626,462 (GRCm39)	C231S	probably damaging	Het
Mdn1	A	T	4: 32,773,952 (GRCm39)	D5521V	probably damaging	Het
Mylip	G	A	13: 45,557,946 (GRCm39)	V52M	possibly damaging	Het
Naip6	A	G	13: 100,444,763 (GRCm39)	S232P	probably benign	Het
Ndc80	T	C	17: 71,808,550 (GRCm39)	K504R	probably benign	Het
Nf2	T	C	11: 4,753,694 (GRCm39)	N220S	possibly damaging	Het
Nfasc	T	A	1: 132,539,370 (GRCm39)	I393F	probably damaging	Het
Or12d2	T	C	17: 37,624,952 (GRCm39)	T108A	probably benign	Het
Pabpc1	T	C	15: 36,608,584 (GRCm39)	Y56C	probably damaging	Het
Pcca	A	G	14: 122,938,542 (GRCm39)	K498R	probably damaging	Het
Phldb1	A	G	9: 44,627,045 (GRCm39)	S467P	probably damaging	Het
Ptprn2	T	C	12: 116,544,048 (GRCm39)	S47P	probably benign	Het
Rtca	A	T	3: 116,291,293 (GRCm39)	I229N	possibly damaging	Het
Sh3rf2	T	A	18: 42,286,359 (GRCm39)	S617R	probably damaging	Het
Slc14a2	T	G	18: 78,190,295 (GRCm39)	T885P	possibly damaging	Het
Sp100	A	C	1: 85,627,357 (GRCm39)	T417P	possibly damaging	Het
Tat	A	T	8: 110,722,846 (GRCm39)	N303Y	probably damaging	Het
Tet2	A	G	3: 133,185,892 (GRCm39)		probably null	Het
Tln2	C	T	9: 67,193,796 (GRCm39)	A1773T	probably benign	Het
Tnks1bp1	A	G	2: 84,893,411 (GRCm39)	S1113G	probably benign	Het
Tspear	G	A	10: 77,705,507 (GRCm39)	E302K	probably benign	Het
Tulp3	A	G	6: 128,314,722 (GRCm39)	L23P	probably damaging	Het
Vti1b	T	C	12: 79,211,807 (GRCm39)	E42G	probably damaging	Het
Yeats2	G	T	16: 20,005,018 (GRCm39)	E333*	probably null	Het
Zfp455	T	G	13: 67,355,073 (GRCm39)	C114G	probably damaging	Het
Zfp532	G	A	18: 65,756,555 (GRCm39)	V163M	possibly damaging	Het
Zfp940	A	T	7: 29,544,952 (GRCm39)	C318*	probably null	Het

Other mutations in Arhgef6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Arhgef6	APN	X	56,290,992 (GRCm39)	critical splice acceptor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GCGAGGACTTCAAGAACTCCTCTG -3'
(R):5'- CACGAGCACTTGCTGACTTTTCTG -3'

Sequencing Primer
(F):5'- CTGGATCACAGACAGTCTTTTTG -3'
(R):5'- AGAACCAGTGATGTTCTCTCAGG -3'

Posted On

2014-05-23