Mutagenetix > Incidental Mutation

Incidental Mutation 'R0139:Arhgef7'

22182

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

038424-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0139 (G1)

Quality Score

212

Status

Validated (trace)

Chromosome

Chromosomal Location

11778053-11885219 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11850503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 111 (E111G)

Ref Sequence

ENSEMBL: ENSMUSP00000147641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074856] [ENSMUST00000098938] [ENSMUST00000110904] [ENSMUST00000110909] [ENSMUST00000210012] [ENSMUST00000211409]

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: ENSMUST00000074856
AA Change: E111G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000074399
Gene: ENSMUSG00000031511
AA Change: E111G

Domain	Start	End	E-Value	Type
SH3	9	64	9.97e-26	SMART
RhoGEF	97	272	8.36e-43	SMART
PH	302	402	3.77e-9	SMART
low complexity region	443	457	N/A	INTRINSIC
low complexity region	473	490	N/A	INTRINSIC
low complexity region	503	515	N/A	INTRINSIC
PDB:3L4F\|C	587	646	2e-32	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098938
AA Change: E111G

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000096538
Gene: ENSMUSG00000031511
AA Change: E111G

Domain	Start	End	E-Value	Type
SH3	9	64	9.97e-26	SMART
RhoGEF	97	272	8.36e-43	SMART
PH	302	402	3.77e-9	SMART
low complexity region	443	457	N/A	INTRINSIC
low complexity region	473	490	N/A	INTRINSIC
low complexity region	503	515	N/A	INTRINSIC
low complexity region	569	600	N/A	INTRINSIC
PDB:3L4F\|C	646	705	2e-32	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110904
AA Change: E117G

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106529
Gene: ENSMUSG00000031511
AA Change: E117G

Domain	Start	End	E-Value	Type
SH3	9	64	9.97e-26	SMART
RhoGEF	97	272	8.36e-43	SMART
PH	302	402	3.77e-9	SMART
low complexity region	428	440	N/A	INTRINSIC
low complexity region	494	525	N/A	INTRINSIC
PDB:3L4F\|C	571	630	2e-32	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000110909
AA Change: E268G

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106534
Gene: ENSMUSG00000031511
AA Change: E268G

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

probably damaging
Transcript: ENSMUST00000210012
AA Change: E111G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210287

Predicted Effect

probably benign
Transcript: ENSMUST00000211409

Meta Mutation Damage Score

0.6765

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 91.2%

Validation Efficiency

97% (89/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	C	T	8: 12,329,899 (GRCm39)	S118L	unknown	Het
Adprs	A	G	4: 126,211,947 (GRCm39)	Y122H	probably damaging	Het
Ankrd52	T	C	10: 128,222,007 (GRCm39)	S544P	probably benign	Het
Aopep	A	G	13: 63,338,298 (GRCm39)	N558S	probably benign	Het
Atp11a	A	G	8: 12,896,054 (GRCm39)	M755V	probably benign	Het
Atp2a2	A	G	5: 122,629,778 (GRCm39)	I97T	probably damaging	Het
Bmp3	G	A	5: 99,027,768 (GRCm39)	D463N	possibly damaging	Het
Cacna2d4	T	C	6: 119,255,230 (GRCm39)		probably benign	Het
Ccdc28a	G	A	10: 18,106,188 (GRCm39)	S46F	possibly damaging	Het
Ccdc40	G	A	11: 119,155,125 (GRCm39)	G1122S	probably benign	Het
Cenpw	T	G	10: 30,076,455 (GRCm39)	T8P	probably benign	Het
Cfap44	G	C	16: 44,253,785 (GRCm39)	G893R	possibly damaging	Het
Cimap3	A	T	3: 105,906,886 (GRCm39)	M171K	possibly damaging	Het
Cops7a	A	T	6: 124,938,323 (GRCm39)	C110S	probably damaging	Het
Cstl1	A	G	2: 148,597,245 (GRCm39)	N134S	probably damaging	Het
Cyp2s1	G	T	7: 25,511,114 (GRCm39)		probably null	Het
Dio2	T	A	12: 90,696,617 (GRCm39)	N124Y	probably damaging	Het
Ecel1	C	A	1: 87,082,248 (GRCm39)	G155V	possibly damaging	Het
Efr3a	G	T	15: 65,717,830 (GRCm39)	V337F	possibly damaging	Het
Eva1b	A	C	4: 126,043,446 (GRCm39)	H162P	probably damaging	Het
Exoc5	C	T	14: 49,273,493 (GRCm39)	E301K	probably damaging	Het
F13b	G	A	1: 139,435,941 (GRCm39)	S249N	probably damaging	Het
Fam120b	C	T	17: 15,646,446 (GRCm39)		probably benign	Het
Gbf1	T	C	19: 46,250,231 (GRCm39)	L396S	probably damaging	Het
Gck	T	A	11: 5,859,139 (GRCm39)	K143*	probably null	Het
Gck	C	A	11: 5,860,370 (GRCm39)	V91L	probably damaging	Het
Glt8d2	T	C	10: 82,496,644 (GRCm39)	N138S	probably damaging	Het
Gm4884	T	C	7: 40,692,387 (GRCm39)	F119L	probably benign	Het
Igsf11	T	C	16: 38,829,240 (GRCm39)	S45P	probably damaging	Het
Iho1	T	C	9: 108,289,695 (GRCm39)	T176A	probably damaging	Het
Il10	G	A	1: 130,950,271 (GRCm39)	V142M	probably damaging	Het
Insc	A	T	7: 114,368,237 (GRCm39)	H9L	probably damaging	Het
Iqsec1	G	T	6: 90,786,740 (GRCm39)		probably benign	Het
Katnb1	A	G	8: 95,825,050 (GRCm39)	S611G	possibly damaging	Het
Kcnb1	A	G	2: 166,947,459 (GRCm39)	I463T	possibly damaging	Het
Lao1	A	G	4: 118,821,399 (GRCm39)	N90S	probably benign	Het
Med16	T	A	10: 79,732,635 (GRCm39)	M710L	probably benign	Het
Mroh2a	G	C	1: 88,185,524 (GRCm39)	E1510D	probably damaging	Het
Mtus1	G	A	8: 41,469,233 (GRCm39)		probably benign	Het
Mybpc3	A	G	2: 90,950,682 (GRCm39)		probably benign	Het
Ndor1	C	T	2: 25,138,366 (GRCm39)	V405M	possibly damaging	Het
Nell2	A	G	15: 95,330,782 (GRCm39)	V213A	probably benign	Het
Nme8	T	C	13: 19,862,018 (GRCm39)	I204V	probably benign	Het
Nup133	A	T	8: 124,656,082 (GRCm39)	N466K	probably benign	Het
Nxt1	A	G	2: 148,517,390 (GRCm39)	T44A	probably benign	Het
Or14c46	T	C	7: 85,918,187 (GRCm39)	E270G	probably benign	Het
Or2ag15	A	T	7: 106,340,832 (GRCm39)	I103N	probably benign	Het
Or2y12	C	T	11: 49,426,401 (GRCm39)	L130F	probably benign	Het
Or4e1	T	C	14: 52,700,669 (GRCm39)	T239A	probably damaging	Het
Or4f7	A	T	2: 111,644,699 (GRCm39)	I124K	possibly damaging	Het
Or7e168	C	T	9: 19,720,165 (GRCm39)	L184F	probably damaging	Het
Pced1a	T	C	2: 130,263,827 (GRCm39)	K275R	probably benign	Het
Pdcd11	A	G	19: 47,099,398 (GRCm39)		probably null	Het
Phldb2	A	C	16: 45,591,029 (GRCm39)		probably benign	Het
Piwil1	C	A	5: 128,824,387 (GRCm39)	S490Y	probably damaging	Het
Plekhh3	T	C	11: 101,054,501 (GRCm39)		probably benign	Het
Ppargc1b	A	T	18: 61,449,034 (GRCm39)		probably benign	Het
Psg19	C	T	7: 18,530,942 (GRCm39)	V71I	possibly damaging	Het
Ptk6	T	C	2: 180,838,724 (GRCm39)		probably benign	Het
Pus7	A	G	5: 23,983,090 (GRCm39)	S126P	probably damaging	Het
Rab6b	T	A	9: 103,017,576 (GRCm39)		probably null	Het
Ranbp3	G	A	17: 57,016,272 (GRCm39)	R347Q	possibly damaging	Het
Sanbr	A	T	11: 23,570,214 (GRCm39)		probably benign	Het
Sbf1	A	T	15: 89,186,701 (GRCm39)	L866Q	probably damaging	Het
Slc25a34	A	G	4: 141,349,663 (GRCm39)	V164A	possibly damaging	Het
Smg1	A	G	7: 117,751,898 (GRCm39)		probably null	Het
Spin1	G	T	13: 51,303,048 (GRCm39)	V214L	probably benign	Het
Spmip2	A	T	3: 79,313,142 (GRCm39)	Y72F	probably damaging	Het
Sptbn1	T	C	11: 30,092,289 (GRCm39)	N492S	probably benign	Het
Stk-ps2	A	G	1: 46,068,955 (GRCm39)		noncoding transcript	Het
Taar7f	T	C	10: 23,926,312 (GRCm39)	I302T	probably benign	Het
Tdrd1	C	A	19: 56,831,630 (GRCm39)	H340Q	probably benign	Het
Thumpd3	A	G	6: 113,044,762 (GRCm39)	D498G	probably benign	Het
Tpgs2	A	G	18: 25,282,242 (GRCm39)	L103P	probably damaging	Het
Trip10	A	G	17: 57,568,633 (GRCm39)		probably null	Het
Trip6	A	T	5: 137,310,436 (GRCm39)	H269Q	probably benign	Het
Trmt12	T	C	15: 58,744,743 (GRCm39)	V47A	possibly damaging	Het
Trpm7	A	T	2: 126,654,691 (GRCm39)	S1416T	probably benign	Het
Tsks	G	A	7: 44,603,883 (GRCm39)	A438T	probably benign	Het
Ttn	T	C	2: 76,727,630 (GRCm39)		probably benign	Het
Twf2	G	A	9: 106,090,155 (GRCm39)	V136M	possibly damaging	Het
Uty	A	C	Y: 1,197,223 (GRCm39)	Y115D	probably damaging	Het
Vcan	A	G	13: 89,839,380 (GRCm39)	S2055P	probably damaging	Het
Yes1	A	G	5: 32,842,039 (GRCm39)	Q521R	possibly damaging	Het
Zfp114	A	T	7: 23,880,685 (GRCm39)	T344S	possibly damaging	Het
Zfp661	A	T	2: 127,420,532 (GRCm39)	V89D	possibly damaging	Het
Zfp91	A	T	19: 12,747,834 (GRCm39)	Y430N	probably damaging	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
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
R2122:Arhgef7	UTSW	8	11,778,256 (GRCm39)	missense	possibly damaging	0.94
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'- GACAAAGTCAGACCTCTGGCCTTC -3'
(R):5'- TGATGAACACGATGCTGTGCCC -3'

Sequencing Primer
(F):5'- CTGGCCTTCATAATTCATCAACTAGG -3'
(R):5'- TCCTCTGCAAACACAGACAGG -3'

Posted On

2013-04-16