Mutagenetix > Incidental Mutation

Incidental Mutation 'R1503:Arhgef6'

169502

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

039553-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1503 (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: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.0%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf7ip	G	T	6: 136,583,865 (GRCm39)	V1299L	probably damaging	Het
Atp12a	A	T	14: 56,610,881 (GRCm39)	N342Y	probably damaging	Het
Atp8b5	G	A	4: 43,344,430 (GRCm39)	G439D	probably damaging	Het
Bpifb2	G	A	2: 153,731,430 (GRCm39)	D269N	possibly damaging	Het
Btd	T	G	14: 31,389,612 (GRCm39)	C444W	probably damaging	Het
Cacna1a	A	G	8: 85,328,575 (GRCm39)	D1624G	probably benign	Het
Carmil3	A	C	14: 55,735,737 (GRCm39)	N563T	probably damaging	Het
Cars1	T	C	7: 143,122,726 (GRCm39)	R538G	probably benign	Het
Catsperd	A	G	17: 56,961,525 (GRCm39)	K416E	possibly damaging	Het
Cc2d2a	A	T	5: 43,852,581 (GRCm39)	Y386F	probably damaging	Het
Ccpg1	A	G	9: 72,906,760 (GRCm39)	N66S	probably benign	Het
Cd48	T	A	1: 171,523,415 (GRCm39)	L86H	probably damaging	Het
Cdan1	A	T	2: 120,560,056 (GRCm39)	H369Q	probably damaging	Het
Chil4	T	C	3: 106,113,350 (GRCm39)	D189G	probably benign	Het
Cit	T	A	5: 116,011,959 (GRCm39)	Y189N	possibly damaging	Het
Cntn3	G	A	6: 102,441,526 (GRCm39)	Q7*	probably null	Het
Csn1s2a	A	T	5: 87,923,658 (GRCm39)	I5F	possibly damaging	Het
Ctnnd1	C	T	2: 84,435,523 (GRCm39)		probably null	Het
Dmxl2	A	T	9: 54,354,272 (GRCm39)	Y391*	probably null	Het
Dnah12	T	C	14: 26,495,649 (GRCm39)	S1426P	probably damaging	Het
Dnhd1	T	G	7: 105,342,867 (GRCm39)	S1404A	possibly damaging	Het
Drosha	T	A	15: 12,848,159 (GRCm39)	C484S	probably benign	Het
Dsg4	A	T	18: 20,582,736 (GRCm39)	I125F	probably damaging	Het
Egfr	T	A	11: 16,819,301 (GRCm39)	M277K	possibly damaging	Het
Eml5	G	T	12: 98,797,433 (GRCm39)	L1059I	probably damaging	Het
Erbb4	G	T	1: 68,385,705 (GRCm39)	H295N	probably benign	Het
Etl4	T	G	2: 20,748,685 (GRCm39)	V139G	possibly damaging	Het
Fhip1a	T	A	3: 85,579,784 (GRCm39)	Y807F	possibly damaging	Het
Frem3	A	T	8: 81,413,647 (GRCm39)	E1969D	probably damaging	Het
Gdf3	T	A	6: 122,583,296 (GRCm39)	D357V	probably damaging	Het
Gimap8	T	A	6: 48,624,463 (GRCm39)		probably null	Het
Gml2	C	A	15: 74,693,201 (GRCm39)	S68*	probably null	Het
Gphn	A	G	12: 78,551,403 (GRCm39)	I248V	possibly damaging	Het
Greb1	A	T	12: 16,774,820 (GRCm39)	Y192*	probably null	Het
Hmbs	A	C	9: 44,248,729 (GRCm39)	L215W	probably benign	Het
Iglon5	T	A	7: 43,128,449 (GRCm39)	T123S	probably benign	Het
Ints2	C	T	11: 86,117,607 (GRCm39)	R705H	probably damaging	Het
Ints8	A	T	4: 11,245,842 (GRCm39)	L212Q	probably damaging	Het
Itgad	A	G	7: 127,797,293 (GRCm39)	Y846C	probably benign	Het
Kcnj1	A	G	9: 32,307,788 (GRCm39)	T51A	probably damaging	Het
Kif9	A	T	9: 110,339,506 (GRCm39)	K449N	possibly damaging	Het
Kifbp	A	G	10: 62,395,187 (GRCm39)	V485A	probably damaging	Het
Klk1b11	G	A	7: 43,428,333 (GRCm39)	W241*	probably null	Het
Krt32	T	C	11: 99,974,936 (GRCm39)		probably null	Het
Loxl1	A	G	9: 58,200,923 (GRCm39)	F513S	probably damaging	Het
Mapk8ip3	A	T	17: 25,123,897 (GRCm39)	S571T	probably damaging	Het
Mcam	C	T	9: 44,052,588 (GRCm39)	R606C	probably damaging	Het
Mtss1	T	C	15: 58,823,521 (GRCm39)	N282S	probably damaging	Het
Myh13	T	A	11: 67,244,500 (GRCm39)	D1012E	probably benign	Het
Myo16	A	G	8: 10,552,817 (GRCm39)	T952A	probably benign	Het
Neb	T	C	2: 52,188,632 (GRCm39)	D874G	probably damaging	Het
Nek11	A	G	9: 105,040,403 (GRCm39)	Y553H	probably damaging	Het
Nr2c2	T	A	6: 92,082,312 (GRCm39)	V9D	probably benign	Het
Nxf1	T	A	19: 8,739,800 (GRCm39)	F51L	probably benign	Het
Or1e1f	T	G	11: 73,855,394 (GRCm39)		probably null	Het
Or1j15	A	T	2: 36,458,885 (GRCm39)	I92F	probably damaging	Het
Or2aj5	A	G	16: 19,425,062 (GRCm39)	S119P	probably benign	Het
Or4c35	T	C	2: 89,808,872 (GRCm39)	V250A	probably damaging	Het
Or5bw2	A	G	7: 6,573,470 (GRCm39)	N160S	probably damaging	Het
Or6s1	A	G	14: 51,308,191 (GRCm39)	S220P	probably damaging	Het
Or6z6	T	C	7: 6,491,178 (GRCm39)	I232V	probably damaging	Het
Pcdhb8	A	T	18: 37,489,572 (GRCm39)	N76Y	probably damaging	Het
Pdzrn4	T	A	15: 92,297,685 (GRCm39)	F217I	probably damaging	Het
Ppp1r16a	T	A	15: 76,578,599 (GRCm39)	H434Q	probably benign	Het
Prpf19	T	A	19: 10,878,386 (GRCm39)	F291I	possibly damaging	Het
R3hdm2	G	T	10: 127,307,695 (GRCm39)	E319*	probably null	Het
Sel1l3	A	G	5: 53,295,271 (GRCm39)	Y777H	probably damaging	Het
Serpinb5	G	A	1: 106,798,019 (GRCm39)	A3T	possibly damaging	Het
Skp2	C	A	15: 9,127,998 (GRCm39)	V88F	probably damaging	Het
Slc25a16	T	C	10: 62,764,155 (GRCm39)	Y71H	probably damaging	Het
Slc6a6	T	A	6: 91,717,973 (GRCm39)	I304N	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sox17	C	A	1: 4,562,151 (GRCm39)	G222C	probably damaging	Het
Trmu	T	A	15: 85,779,220 (GRCm39)	V289E	possibly damaging	Het
Vdac2	A	G	14: 21,887,945 (GRCm39)	E96G	probably damaging	Het
Wdhd1	A	T	14: 47,484,857 (GRCm39)	D885E	probably benign	Het
Zfp646	A	G	7: 127,479,308 (GRCm39)	N495S	probably damaging	Het
Zfp663	T	C	2: 165,194,573 (GRCm39)	T549A	probably damaging	Het
Zfp935	G	A	13: 62,602,951 (GRCm39)	A83V	possibly damaging	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
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

Predicted Primers

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

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

Posted On

2014-04-13