Mutagenetix > Incidental Mutation

Incidental Mutation 'R0973:Arhgef7'

236734

Institutional Source

Beutler Lab

Gene Symbol

Arhgef7

Ensembl Gene

ENSMUSG00000031511

Gene Name

Rho guanine nucleotide exchange factor (GEF7)

Synonyms

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

MMRRC Submission

039102-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11727721-11835219 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11819659 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 432 (T432A)

Ref Sequence

ENSEMBL: ENSMUSP00000106529 (fasta)

Gene Model

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

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: T501A

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000074399
Gene: ENSMUSG00000031511
AA Change: T501A

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: T501A

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000096538
Gene: ENSMUSG00000031511
AA Change: T501A

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: T432A

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106529
Gene: ENSMUSG00000031511
AA Change: T432A

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: T658A

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106534
Gene: ENSMUSG00000031511
AA Change: T658A

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

noncoding transcript
Transcript: ENSMUST00000154204

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211510

Meta Mutation Damage Score

0.0592

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

93% (38/41)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 184,033,505	S119N	probably benign	Het
4930503L19Rik	T	A	18: 70,467,926		probably null	Het
5430419D17Rik	T	C	7: 131,238,182	L611P	probably damaging	Het
Adam18	T	C	8: 24,647,853	T324A	probably benign	Het
Adamts20	T	A	15: 94,286,371	Q1517L	probably benign	Het
AI429214	A	G	8: 36,994,319	Q207R	probably benign	Het
Atad2b	A	G	12: 5,031,784	N1231S	probably benign	Het
Atp13a1	T	C	8: 69,802,144		probably null	Het
Atp6v0a1	T	A	11: 101,055,491	L770*	probably null	Het
Atp8b3	T	C	10: 80,534,198	N127S	probably damaging	Het
B3gnt5	T	A	16: 19,770,010	D326E	probably damaging	Het
Birc6	T	A	17: 74,565,861	S372T	probably damaging	Het
Btbd9	T	A	17: 30,299,633	D451V	probably damaging	Het
Cd46	T	C	1: 195,041,992	*366W	probably null	Het
Cdh18	T	A	15: 23,473,995	D650E	probably damaging	Het
Cenpc1	A	T	5: 86,037,908	V248E	probably damaging	Het
Cep152	A	G	2: 125,594,899	S574P	probably benign	Het
Chd2	A	G	7: 73,478,664	S858P	probably damaging	Het
Cib4	T	C	5: 30,488,594	D110G	probably damaging	Het
Col9a2	T	A	4: 121,039,788		probably null	Het
Csmd2	A	T	4: 128,496,188	I2239F	possibly damaging	Het
Csmd3	C	A	15: 47,659,089	G2728V	probably damaging	Het
Cxcl1	A	T	5: 90,891,767	K85*	probably null	Het
Cyp2d11	A	G	15: 82,389,529	L416P	possibly damaging	Het
Daam1	A	C	12: 71,915,784	K90T	unknown	Het
Depdc5	T	A	5: 32,986,966	M1435K	possibly damaging	Het
Diexf	A	T	1: 193,114,703	N573K	probably damaging	Het
Dip2c	G	A	13: 9,576,908	A632T	probably damaging	Het
Dld	A	T	12: 31,334,054	I350N	probably damaging	Het
Dmtf1	T	A	5: 9,127,987	I391F	possibly damaging	Het
Dnah14	T	C	1: 181,752,145	V3081A	probably damaging	Het
Efemp1	A	G	11: 28,854,538	E22G	probably damaging	Het
Ephb6	A	G	6: 41,614,104	D65G	probably damaging	Het
Fsip2	A	T	2: 82,977,092	T1252S	probably benign	Het
Gm13084	T	C	4: 143,811,858	Y181C	probably damaging	Het
Gm4847	A	G	1: 166,630,255	S510P	probably benign	Het
Golga4	T	C	9: 118,537,273	I365T	probably damaging	Het
Gp2	A	T	7: 119,454,543	L65Q	probably damaging	Het
Ibtk	T	C	9: 85,743,577	Y40C	probably damaging	Het
Ice1	C	A	13: 70,602,427	V1847L	probably benign	Het
Ift172	C	T	5: 31,265,355	R917H	probably benign	Het
Itgae	C	T	11: 73,138,509	Q1037*	probably null	Het
Kbtbd7	A	G	14: 79,427,430	E234G	possibly damaging	Het
Khsrp	T	C	17: 57,025,576	T235A	probably benign	Het
Klk13	T	C	7: 43,721,158		probably null	Het
Lrfn5	G	A	12: 61,843,437	G504D	probably damaging	Het
Macf1	A	G	4: 123,476,000	V91A	possibly damaging	Het
Map6	G	A	7: 99,336,743	G821D	possibly damaging	Het
Mark1	A	C	1: 184,921,604	V167G	probably damaging	Het
Mrgprf	T	A	7: 145,308,256	L185Q	probably damaging	Het
Mtor	T	A	4: 148,550,188	V2422D	probably damaging	Het
Myh13	T	A	11: 67,332,520	I222N	probably damaging	Het
Myh7b	G	A	2: 155,620,427	C350Y	probably benign	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Olfm3	C	A	3: 115,101,986	S172R	probably benign	Het
Olfr1168	A	T	2: 88,184,978	T34S	probably benign	Het
Olfr1231	A	T	2: 89,303,184	I136N	probably damaging	Het
Olfr342	A	G	2: 36,528,008	I199V	probably benign	Het
Olfr70	A	G	4: 43,696,706	S156P	probably damaging	Het
Olfr912	T	A	9: 38,581,283	V2D	possibly damaging	Het
Pacs1	A	T	19: 5,143,829	D557E	probably damaging	Het
Pde1c	A	G	6: 56,361,815	F11L	probably benign	Het
Phactr2	T	C	10: 13,247,139	D343G	possibly damaging	Het
Piezo2	T	C	18: 63,015,802	Y2659C	probably damaging	Het
Pkd2l2	A	G	18: 34,428,252	T438A	probably damaging	Het
Pld2	T	C	11: 70,557,081	W857R	probably damaging	Het
Plxnb1	T	C	9: 109,102,142	V410A	possibly damaging	Het
Ptger2	A	G	14: 44,989,500	Y179C	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rcan1	A	T	16: 92,393,520	M177K	probably benign	Het
Rilpl1	A	G	5: 124,501,871	S156P	probably benign	Het
Rilpl1	A	G	5: 124,501,888	I122T	possibly damaging	Het
Rims4	C	T	2: 163,863,929	V262M	possibly damaging	Het
Rpa1	C	T	11: 75,312,973		probably null	Het
Saxo2	A	G	7: 82,634,870	V260A	probably benign	Het
Sel1l	T	C	12: 91,824,860	Y309C	probably damaging	Het
Setd1b	GCCCCCCC	GCCCCCCCCCCCCC	5: 123,160,703		probably benign	Het
Slc33a1	A	G	3: 63,943,304	F533S	probably benign	Het
Slc38a4	C	T	15: 97,005,858	V421M	probably benign	Het
Snx14	A	G	9: 88,400,721		probably null	Het
Spef2	A	G	15: 9,716,396	F368S	probably damaging	Het
Sri	A	T	5: 8,059,381	Q55L	probably damaging	Het
Stat4	A	G	1: 52,096,820	I429M	probably damaging	Het
Stkld1	A	T	2: 26,951,450	Q469L	probably benign	Het
Tm9sf1	T	C	14: 55,642,935	T2A	possibly damaging	Het
Tmco5	A	G	2: 116,883,218	T122A	probably benign	Het
Tmem59l	G	A	8: 70,486,060	P124S	possibly damaging	Het
Tmem81	G	A	1: 132,507,924	R156Q	probably damaging	Het
Trpv6	T	A	6: 41,625,188	T396S	probably benign	Het
Usp24	T	A	4: 106,371,079	Y780*	probably null	Het
Vmn1r120	A	G	7: 21,053,016	C257R	probably damaging	Het
Vmn2r53	A	G	7: 12,601,392	F114L	probably damaging	Het
Vwf	A	G	6: 125,643,006	E1549G	probably damaging	Het
Zfp626	G	A	7: 27,818,482	R296H	probably damaging	Het

Other mutations in Arhgef7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Arhgef7	APN	8	11782540	missense	probably damaging	1.00
IGL01481:Arhgef7	APN	8	11815256	missense	probably benign	0.01
IGL02376:Arhgef7	APN	8	11817735	missense	probably damaging	1.00
IGL02812:Arhgef7	APN	8	11781245	unclassified	probably benign
IGL02813:Arhgef7	APN	8	11800767	unclassified	probably benign
IGL02864:Arhgef7	APN	8	11815247	missense	possibly damaging	0.49
Mental_fitness	UTSW	8	11800811	missense	probably damaging	1.00
R0139:Arhgef7	UTSW	8	11800503	missense	probably damaging	0.99
R0157:Arhgef7	UTSW	8	11785812	missense	probably damaging	1.00
R0332:Arhgef7	UTSW	8	11824701	nonsense	probably null
R0448:Arhgef7	UTSW	8	11819659	missense	possibly damaging	0.78
R1491:Arhgef7	UTSW	8	11819733	critical splice donor site	probably null
R1566:Arhgef7	UTSW	8	11782620	missense	possibly damaging	0.85
R1601:Arhgef7	UTSW	8	11782638	splice site	probably null
R1716:Arhgef7	UTSW	8	11808713	splice site	probably null
R1717:Arhgef7	UTSW	8	11808712	unclassified	probably benign
R1717:Arhgef7	UTSW	8	11808713	splice site	probably null
R1719:Arhgef7	UTSW	8	11808713	splice site	probably null
R1901:Arhgef7	UTSW	8	11808713	splice site	probably null
R1902:Arhgef7	UTSW	8	11808713	splice site	probably null
R1933:Arhgef7	UTSW	8	11808713	splice site	probably null
R1934:Arhgef7	UTSW	8	11808713	splice site	probably null
R1956:Arhgef7	UTSW	8	11805266	missense	probably damaging	1.00
R2122:Arhgef7	UTSW	8	11728256	missense	possibly damaging	0.94
R2273:Arhgef7	UTSW	8	11815010	missense	possibly damaging	0.94
R2275:Arhgef7	UTSW	8	11815010	missense	possibly damaging	0.94
R2306:Arhgef7	UTSW	8	11812680	nonsense	probably null
R2375:Arhgef7	UTSW	8	11814995	missense	probably benign	0.08
R4530:Arhgef7	UTSW	8	11800802	missense	possibly damaging	0.60
R4805:Arhgef7	UTSW	8	11831552	missense	probably damaging	1.00
R5204:Arhgef7	UTSW	8	11800775	nonsense	probably null
R5212:Arhgef7	UTSW	8	11728388	missense	probably benign	0.40
R5256:Arhgef7	UTSW	8	11800811	missense	probably damaging	1.00
R5718:Arhgef7	UTSW	8	11785774	missense	probably damaging	1.00
R6195:Arhgef7	UTSW	8	11822017	missense	probably damaging	1.00
R6503:Arhgef7	UTSW	8	11833054	missense	possibly damaging	0.58
R6679:Arhgef7	UTSW	8	11824667	missense	possibly damaging	0.79
R7337:Arhgef7	UTSW	8	11785789	missense	probably damaging	1.00
R7422:Arhgef7	UTSW	8	11800861	missense	probably benign	0.01
R7684:Arhgef7	UTSW	8	11819663	missense	probably benign	0.38
R7793:Arhgef7	UTSW	8	11824507	missense	possibly damaging	0.73
R8762:Arhgef7	UTSW	8	11781216	missense	probably benign	0.08
R8955:Arhgef7	UTSW	8	11758451	start gained	probably benign
R9022:Arhgef7	UTSW	8	11800469	missense	probably benign	0.00
R9095:Arhgef7	UTSW	8	11785819	missense	probably damaging	1.00
R9425:Arhgef7	UTSW	8	11817736	missense	probably damaging	0.99
R9432:Arhgef7	UTSW	8	11819646	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACGTCCTCTTGGCTCTTGG -3'
(R):5'- TCAAATTATAGATCTGCTGGGTGG -3'

Sequencing Primer
(F):5'- GCTCTTGGCCTGTGTTTATG -3'
(R):5'- CAGCCGATGCAGAGACTG -3'

Posted On

2014-10-02