Mutagenetix > Incidental Mutations

Incidental Mutation 'R5212:Arhgef7'

403182

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

042786-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5212 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

11727721-11835219 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11728388 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 46 (E46G)

Ref Sequence

ENSEMBL: ENSMUSP00000148109 (fasta)

Gene Model

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

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

probably benign
Transcript: ENSMUST00000110909
AA Change: E46G

PolyPhen 2 Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106534
Gene: ENSMUSG00000031511
AA Change: E46G

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 benign
Transcript: ENSMUST00000210104
AA Change: E46G

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

Meta Mutation Damage Score

0.1189

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (58/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,065,850	S267T	possibly damaging	Het
Abca9	T	C	11: 110,107,226	D1514G	probably benign	Het
Adamtsl4	T	A	3: 95,677,670	D896V	probably damaging	Het
Amer2	A	G	14: 60,379,820	Y362C	probably damaging	Het
Arglu1	T	A	8: 8,683,843	R158W	probably damaging	Het
Atg2b	A	G	12: 105,646,796	V1172A	probably benign	Het
Bhlhe23	T	A	2: 180,776,093	K217N	probably damaging	Het
Birc6	A	C	17: 74,670,374	N4388T	probably damaging	Het
Ccp110	C	T	7: 118,729,696	A845V	probably damaging	Het
Cd63	A	G	10: 128,911,853	Y105C	probably damaging	Het
Cdk11b	T	C	4: 155,638,615		probably null	Het
Clip1	T	A	5: 123,630,681	R618S	probably benign	Het
Crybg1	A	T	10: 43,967,743	F1731L	possibly damaging	Het
Dock1	A	C	7: 134,789,194	K728Q	possibly damaging	Het
Emc2	A	G	15: 43,510,844	E180G	probably damaging	Het
F13b	A	T	1: 139,512,987	I394F	probably benign	Het
Fnta	A	G	8: 26,009,707	I155T	probably benign	Het
Fshr	T	A	17: 88,986,256	E331D	probably benign	Het
Fshr	T	A	17: 88,986,257	E331V	probably benign	Het
Gas2l1	A	T	11: 5,061,108	C574S	probably benign	Het
Ggnbp2	T	A	11: 84,854,021		probably benign	Het
Gm3371	A	C	14: 44,403,654		probably benign	Het
Gm7489	T	A	15: 53,885,620		probably benign	Het
Hand1	A	C	11: 57,831,447	F114V	probably damaging	Het
Itga4	A	C	2: 79,280,595	H259P	probably damaging	Het
Jakmip1	A	T	5: 37,104,901	H183L	probably benign	Het
Kif1bp	A	T	10: 62,563,129		probably benign	Het
Krt8	G	T	15: 101,997,967	A369D	possibly damaging	Het
Krt82	T	C	15: 101,545,049	S301G	probably damaging	Het
Lig3	A	G	11: 82,787,678	T248A	probably benign	Het
Madcam1	C	G	10: 79,668,345	T255S	probably benign	Het
Med20	T	C	17: 47,618,850	Y71H	probably benign	Het
Mtss1l	A	G	8: 110,729,218	I107V	probably damaging	Het
Nans	T	C	4: 46,502,547	F328S	possibly damaging	Het
Ncbp3	A	G	11: 73,053,547		probably benign	Het
Nek8	T	C	11: 78,172,516	M1V	probably null	Het
Nufip1	A	T	14: 76,133,098	N413I	possibly damaging	Het
Pbx3	T	C	2: 34,288,781		probably benign	Het
Plppr3	C	T	10: 79,862,445	G419R	probably benign	Het
Rfx1	G	T	8: 84,066,592		probably benign	Het
Rnpepl1	C	T	1: 92,911,323	A68V	probably benign	Het
Rsbn1l	A	T	5: 20,896,214	M776K	probably benign	Het
Setd7	A	T	3: 51,542,817	Y63N	probably damaging	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Snap47	T	C	11: 59,428,352	E320G	probably damaging	Het
Spaca6	C	A	17: 17,838,394	P68Q	probably benign	Het
Tdrd3	G	C	14: 87,506,215	R527P	probably damaging	Het
Tmprss2	G	T	16: 97,576,292	Q202K	probably benign	Het
Tmprss6	A	G	15: 78,446,260	V69A	probably damaging	Het
Trav6-1	A	T	14: 52,638,704	Q27L	probably benign	Het
Ttn	T	C	2: 76,789,601	I15908V	probably benign	Het
Ttn	T	A	2: 76,797,675	D12931V	probably damaging	Het
Ttn	C	T	2: 76,901,613		probably benign	Het
Ush2a	T	A	1: 188,444,705		probably null	Het
Wls	A	G	3: 159,873,008	N69S	probably benign	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
R0973: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	unclassified	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
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

Predicted Primers

PCR Primer
(F):5'- CGCCGCTAATGAAAAGGCAC -3'
(R):5'- TCCCAACTTCACGTTAGGGTG -3'

Sequencing Primer
(F):5'- AGGCACTTGACAGCGGG -3'
(R):5'- TTCACGTTAGGGTGGAGCAGAAC -3'

Posted On

2016-07-22