Mutagenetix > Incidental Mutation

Incidental Mutation 'R2122:Arhgef7'

229584

Institutional Source

Beutler Lab

Gene Symbol

Arhgef7

Ensembl Gene

ENSMUSG00000031511

Gene Name

Rho guanine nucleotide exchange factor

Synonyms

betaPix-c, betaPix, Pak interacting exchange factor, p85SPR, betaPix-b, cool-1, Cool, PIX

MMRRC Submission

040126-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2122 (G1)

Quality Score

136

Status

Not validated

Chromosome

Chromosomal Location

11778053-11885219 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11778256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 2 (N2I)

Ref Sequence

ENSEMBL: ENSMUSP00000148109 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110909] [ENSMUST00000210104]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000033908

SMART Domains

Protein: ENSMUSP00000033908
Gene: ENSMUSG00000031511

Domain	Start	End	E-Value	Type
CH	3	107	7.28e-13	SMART
SH3	166	221	9.97e-26	SMART
RhoGEF	254	429	8.36e-43	SMART
PH	459	559	3.77e-9	SMART
low complexity region	600	614	N/A	INTRINSIC
low complexity region	630	647	N/A	INTRINSIC
low complexity region	660	672	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110909
AA Change: N2I

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106534
Gene: ENSMUSG00000031511
AA Change: N2I

Domain	Start	End	E-Value	Type
CH	3	107	7.28e-13	SMART
Pfam:RhoGEF67_u1	117	163	8e-21	PFAM
SH3	166	221	9.97e-26	SMART
RhoGEF	254	429	8.36e-43	SMART
PH	459	559	3.77e-9	SMART
Pfam:RhoGEF67_u2	611	711	2.3e-53	PFAM
low complexity region	726	757	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210104
AA Change: N2I

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	T	7: 120,119,184 (GRCm39)	G975V	probably damaging	Het
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Actl10	G	A	2: 154,394,153 (GRCm39)	R35H	probably damaging	Het
Adamts12	C	T	15: 11,310,665 (GRCm39)	T974I	probably damaging	Het
Ahctf1	C	A	1: 179,597,017 (GRCm39)	R43L	probably damaging	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Arhgef38	T	C	3: 132,866,514 (GRCm39)	K208E	probably benign	Het
Blvra	T	G	2: 126,928,817 (GRCm39)	S102A	probably damaging	Het
Btn1a1	A	G	13: 23,645,691 (GRCm39)	L226P	probably damaging	Het
C2cd4d	G	T	3: 94,270,925 (GRCm39)	E64*	probably null	Het
Ccna2	A	G	3: 36,622,875 (GRCm39)	V209A	probably damaging	Het
Cd55	T	A	1: 130,387,354 (GRCm39)	D148V	possibly damaging	Het
Cdh2	G	A	18: 16,907,600 (GRCm39)	P46L	probably benign	Het
Cldn11	A	G	3: 31,217,300 (GRCm39)	Y156C	probably damaging	Het
Cmtm2a	T	C	8: 105,019,655 (GRCm39)	R12G	possibly damaging	Het
Cog2	T	C	8: 125,255,724 (GRCm39)	S104P	possibly damaging	Het
Col4a3	T	G	1: 82,632,678 (GRCm39)	F184V	unknown	Het
Col4a4	T	A	1: 82,434,592 (GRCm39)	D1406V	unknown	Het
Col6a1	T	C	10: 76,557,332 (GRCm39)	T207A	probably benign	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Dcdc2a	T	G	13: 25,303,268 (GRCm39)	S266R	possibly damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Eif2ak4	T	A	2: 118,286,274 (GRCm39)	V1063E	probably damaging	Het
Enpp2	A	T	15: 54,761,188 (GRCm39)	Y44*	probably null	Het
Ep400	A	T	5: 110,856,716 (GRCm39)		probably benign	Het
Exoc6b	A	G	6: 84,598,464 (GRCm39)	M779T	probably benign	Het
F13a1	T	A	13: 37,209,653 (GRCm39)	Y104F	probably benign	Het
Fam78b	G	A	1: 166,906,278 (GRCm39)	V146M	probably damaging	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Fscn3	A	G	6: 28,430,388 (GRCm39)	D186G	probably benign	Het
Gm5773	G	A	3: 93,680,624 (GRCm39)	G99R	possibly damaging	Het
Grk1	A	T	8: 13,455,221 (GRCm39)	Y35F	probably benign	Het
Heatr1	T	C	13: 12,418,145 (GRCm39)	V359A	probably benign	Het
Hfm1	A	G	5: 107,044,121 (GRCm39)	S567P	probably damaging	Het
Il1rap	A	T	16: 26,529,315 (GRCm39)	H379L	probably damaging	Het
Kctd5	T	C	17: 24,274,940 (GRCm39)	T212A	probably benign	Het
Krtap5-5	A	T	7: 141,783,240 (GRCm39)	C137S	unknown	Het
Lrp2	T	C	2: 69,314,051 (GRCm39)	T2227A	probably damaging	Het
Ltbp1	T	A	17: 75,617,154 (GRCm39)	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,286,440 (GRCm39)	S249P	probably benign	Het
Map1a	T	A	2: 121,129,927 (GRCm39)	Y248N	probably damaging	Het
Mdc1	C	T	17: 36,158,835 (GRCm39)	A405V	probably benign	Het
Mfsd4b1	T	C	10: 39,878,647 (GRCm39)	K417E	possibly damaging	Het
Mroh2a	T	C	1: 88,184,476 (GRCm39)	V1453A	probably benign	Het
Myh11	T	C	16: 14,035,868 (GRCm39)	E1027G	probably damaging	Het
Nudt6	A	C	3: 37,466,554 (GRCm39)	F80L	probably benign	Het
Nxph1	A	G	6: 9,247,791 (GRCm39)	K254R	probably damaging	Het
Obsl1	C	T	1: 75,470,527 (GRCm39)	R1043H	probably benign	Het
Or10a4	A	T	7: 106,697,316 (GRCm39)	I215F	probably damaging	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Phldb2	T	A	16: 45,583,304 (GRCm39)	I1065F	probably damaging	Het
Ppp1r3a	A	T	6: 14,721,874 (GRCm39)	N317K	possibly damaging	Het
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Pum1	C	A	4: 130,396,581 (GRCm39)	T112K	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Reg3a	T	C	6: 78,358,119 (GRCm39)	C17R	possibly damaging	Het
Ripor2	A	G	13: 24,897,701 (GRCm39)	S800G	probably damaging	Het
Rnf168	T	G	16: 32,097,036 (GRCm39)	L37R	probably damaging	Het
Rnf31	A	G	14: 55,833,654 (GRCm39)	D554G	probably damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Sacs	A	T	14: 61,449,765 (GRCm39)	Q3937L	probably damaging	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Slc20a1	T	G	2: 129,041,739 (GRCm39)	I34S	possibly damaging	Het
Slc25a30	A	G	14: 76,007,658 (GRCm39)	S116P	possibly damaging	Het
Speer4c1	T	A	5: 15,919,115 (GRCm39)	D29V	possibly damaging	Het
Stk40	C	T	4: 126,022,640 (GRCm39)	T138I	probably benign	Het
Susd3	A	G	13: 49,384,626 (GRCm39)	Y254H	probably damaging	Het
Tanc2	T	C	11: 105,786,775 (GRCm39)	L858P	probably damaging	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tfpt	C	T	7: 3,631,930 (GRCm39)	R60Q	probably damaging	Het
Tmem44	T	A	16: 30,366,262 (GRCm39)	K55*	probably null	Het
Tnfsf9	A	T	17: 57,414,316 (GRCm39)		probably null	Het
Ube3c	T	C	5: 29,824,604 (GRCm39)	I543T	probably benign	Het
Ugt1a2	C	A	1: 88,128,735 (GRCm39)	S126Y	possibly damaging	Het
Vmn1r180	T	A	7: 23,652,566 (GRCm39)	L243Q	probably damaging	Het
Vmn2r15	A	C	5: 109,434,322 (GRCm39)	V794G	probably damaging	Het
Vmn2r24	A	G	6: 123,792,353 (GRCm39)	D560G	possibly damaging	Het
Wdr11	G	A	7: 129,233,490 (GRCm39)	C1028Y	probably damaging	Het
Zfp318	A	G	17: 46,724,297 (GRCm39)	D2100G	probably benign	Het
Zfyve16	A	T	13: 92,655,991 (GRCm39)	Y789*	probably null	Het

Other mutations in Arhgef7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Arhgef7	APN	8	11,832,540 (GRCm39)	missense	probably damaging	1.00
IGL01481:Arhgef7	APN	8	11,865,256 (GRCm39)	missense	probably benign	0.01
IGL02376:Arhgef7	APN	8	11,867,735 (GRCm39)	missense	probably damaging	1.00
IGL02812:Arhgef7	APN	8	11,831,245 (GRCm39)	unclassified	probably benign
IGL02813:Arhgef7	APN	8	11,850,767 (GRCm39)	unclassified	probably benign
IGL02864:Arhgef7	APN	8	11,865,247 (GRCm39)	missense	possibly damaging	0.49
Mental_fitness	UTSW	8	11,850,811 (GRCm39)	missense	probably damaging	1.00
R0139:Arhgef7	UTSW	8	11,850,503 (GRCm39)	missense	probably damaging	0.99
R0157:Arhgef7	UTSW	8	11,835,812 (GRCm39)	missense	probably damaging	1.00
R0332:Arhgef7	UTSW	8	11,874,701 (GRCm39)	nonsense	probably null
R0448:Arhgef7	UTSW	8	11,869,659 (GRCm39)	missense	possibly damaging	0.78
R0973:Arhgef7	UTSW	8	11,869,659 (GRCm39)	missense	possibly damaging	0.78
R1491:Arhgef7	UTSW	8	11,869,733 (GRCm39)	critical splice donor site	probably null
R1566:Arhgef7	UTSW	8	11,832,620 (GRCm39)	missense	possibly damaging	0.85
R1601:Arhgef7	UTSW	8	11,832,638 (GRCm39)	splice site	probably null
R1716:Arhgef7	UTSW	8	11,858,713 (GRCm39)	splice site	probably null
R1717:Arhgef7	UTSW	8	11,858,713 (GRCm39)	splice site	probably null
R1717:Arhgef7	UTSW	8	11,858,712 (GRCm39)	unclassified	probably benign
R1719:Arhgef7	UTSW	8	11,858,713 (GRCm39)	splice site	probably null
R1901:Arhgef7	UTSW	8	11,858,713 (GRCm39)	splice site	probably null
R1902:Arhgef7	UTSW	8	11,858,713 (GRCm39)	splice site	probably null
R1933:Arhgef7	UTSW	8	11,858,713 (GRCm39)	splice site	probably null
R1934:Arhgef7	UTSW	8	11,858,713 (GRCm39)	splice site	probably null
R1956:Arhgef7	UTSW	8	11,855,266 (GRCm39)	missense	probably damaging	1.00
R2273:Arhgef7	UTSW	8	11,865,010 (GRCm39)	missense	possibly damaging	0.94
R2275:Arhgef7	UTSW	8	11,865,010 (GRCm39)	missense	possibly damaging	0.94
R2306:Arhgef7	UTSW	8	11,862,680 (GRCm39)	nonsense	probably null
R2375:Arhgef7	UTSW	8	11,864,995 (GRCm39)	missense	probably benign	0.08
R4530:Arhgef7	UTSW	8	11,850,802 (GRCm39)	missense	possibly damaging	0.60
R4805:Arhgef7	UTSW	8	11,881,552 (GRCm39)	missense	probably damaging	1.00
R5204:Arhgef7	UTSW	8	11,850,775 (GRCm39)	nonsense	probably null
R5212:Arhgef7	UTSW	8	11,778,388 (GRCm39)	missense	probably benign	0.40
R5256:Arhgef7	UTSW	8	11,850,811 (GRCm39)	missense	probably damaging	1.00
R5718:Arhgef7	UTSW	8	11,835,774 (GRCm39)	missense	probably damaging	1.00
R6195:Arhgef7	UTSW	8	11,872,017 (GRCm39)	missense	probably damaging	1.00
R6503:Arhgef7	UTSW	8	11,883,054 (GRCm39)	missense	possibly damaging	0.58
R6679:Arhgef7	UTSW	8	11,874,667 (GRCm39)	missense	possibly damaging	0.79
R7337:Arhgef7	UTSW	8	11,835,789 (GRCm39)	missense	probably damaging	1.00
R7422:Arhgef7	UTSW	8	11,850,861 (GRCm39)	missense	probably benign	0.01
R7684:Arhgef7	UTSW	8	11,869,663 (GRCm39)	missense	probably benign	0.38
R7793:Arhgef7	UTSW	8	11,874,507 (GRCm39)	missense	possibly damaging	0.73
R8762:Arhgef7	UTSW	8	11,831,216 (GRCm39)	missense	probably benign	0.08
R8955:Arhgef7	UTSW	8	11,808,451 (GRCm39)	start gained	probably benign
R9022:Arhgef7	UTSW	8	11,850,469 (GRCm39)	missense	probably benign	0.00
R9095:Arhgef7	UTSW	8	11,835,819 (GRCm39)	missense	probably damaging	1.00
R9425:Arhgef7	UTSW	8	11,867,736 (GRCm39)	missense	probably damaging	0.99
R9432:Arhgef7	UTSW	8	11,869,646 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGCGCTTACTAATCGCGC -3'
(R):5'- GGCCACTTACTTTCTCGATGG -3'

Sequencing Primer
(F):5'- TTCCTGCGCCGCTAATGAAAAG -3'
(R):5'- ACTTTCTCGATGGTCCCGGG -3'

Posted On

2014-09-17