Mutagenetix > Incidental Mutations

Incidental Mutation 'R0243:Arhgef4'

261759

Institutional Source

Beutler Lab

Gene Symbol

Arhgef4

Ensembl Gene

ENSMUSG00000037509

Gene Name

Rho guanine nucleotide exchange factor (GEF) 4

Synonyms

9330140K16Rik, Asef

MMRRC Submission

038481-MU

Accession Numbers

Genbank: NM_183019; MGI: 2442507; Ensembl: ENSMUSG00000070955

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0243 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

34678188-34813309 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 34806999 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047664] [ENSMUST00000159021] [ENSMUST00000159021] [ENSMUST00000159747] [ENSMUST00000159747] [ENSMUST00000160855] [ENSMUST00000162599] [ENSMUST00000162599]

AlphaFold

Q7TNR9

Predicted Effect

probably null
Transcript: ENSMUST00000047664

SMART Domains

Protein: ENSMUSP00000035980
Gene: ENSMUSG00000037509

Domain	Start	End	E-Value	Type
SH3	1	45	6.97e-7	SMART
RhoGEF	82	261	3.86e-56	SMART
PH	294	402	2.33e-14	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000159021

SMART Domains

Protein: ENSMUSP00000124467
Gene: ENSMUSG00000037509

Domain	Start	End	E-Value	Type
SH3	1	45	6.97e-7	SMART
Pfam:RhoGEF	82	190	3.4e-29	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000159021

SMART Domains

Protein: ENSMUSP00000124467
Gene: ENSMUSG00000037509

Domain	Start	End	E-Value	Type
SH3	1	45	6.97e-7	SMART
Pfam:RhoGEF	82	190	3.4e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159059

Predicted Effect

probably null
Transcript: ENSMUST00000159747

SMART Domains

Protein: ENSMUSP00000124213
Gene: ENSMUSG00000037509

Domain	Start	End	E-Value	Type
low complexity region	15	28	N/A	INTRINSIC
low complexity region	573	584	N/A	INTRINSIC
low complexity region	686	712	N/A	INTRINSIC
low complexity region	915	926	N/A	INTRINSIC
low complexity region	1119	1137	N/A	INTRINSIC
low complexity region	1240	1254	N/A	INTRINSIC
SH3	1361	1416	3.73e-16	SMART
RhoGEF	1453	1632	3.86e-56	SMART
PH	1665	1773	2.33e-14	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000159747

SMART Domains

Protein: ENSMUSP00000124213
Gene: ENSMUSG00000037509

Domain	Start	End	E-Value	Type
low complexity region	15	28	N/A	INTRINSIC
low complexity region	573	584	N/A	INTRINSIC
low complexity region	686	712	N/A	INTRINSIC
low complexity region	915	926	N/A	INTRINSIC
low complexity region	1119	1137	N/A	INTRINSIC
low complexity region	1240	1254	N/A	INTRINSIC
SH3	1361	1416	3.73e-16	SMART
RhoGEF	1453	1632	3.86e-56	SMART
PH	1665	1773	2.33e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160855

SMART Domains

Protein: ENSMUSP00000124207
Gene: ENSMUSG00000037509

Domain	Start	End	E-Value	Type
SH3	1	45	6.97e-7	SMART
Pfam:RhoGEF	82	187	1.2e-21	PFAM
low complexity region	194	211	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000162599

SMART Domains

Protein: ENSMUSP00000124906
Gene: ENSMUSG00000037509

Domain	Start	End	E-Value	Type
low complexity region	73	87	N/A	INTRINSIC
SH3	194	249	3.73e-16	SMART
Pfam:RhoGEF	304	405	1.2e-25	PFAM
PH	438	546	2.33e-14	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000162599

SMART Domains

Protein: ENSMUSP00000124906
Gene: ENSMUSG00000037509

Domain	Start	End	E-Value	Type
low complexity region	73	87	N/A	INTRINSIC
SH3	194	249	3.73e-16	SMART
Pfam:RhoGEF	304	405	1.2e-25	PFAM
PH	438	546	2.33e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193040

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

Validation Efficiency

98% (148/151)

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 protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased angiogenesis, vascular endothelial cell migration, tumor growth, and tumor vascularization. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock

Total: 139 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	G	5: 63,898,463	Y181D	probably benign	Het
1110034G24Rik	T	C	2: 132,750,639	V202A	probably benign	Het
1700029H14Rik	A	G	8: 13,554,715	V196A	possibly damaging	Het
2410004B18Rik	A	G	3: 145,938,078	D7G	probably damaging	Het
2810474O19Rik	T	C	6: 149,326,241	Y262H	probably damaging	Het
Acap1	A	G	11: 69,885,426	V249A	probably damaging	Het
Acat2	A	T	17: 12,944,021	D313E	probably benign	Het
Actn4	T	C	7: 28,905,398	T325A	probably benign	Het
Adamdec1	C	T	14: 68,581,958		probably null	Het
Adat2	A	G	10: 13,553,293	T10A	probably benign	Het
Aff4	T	A	11: 53,397,858	S400R	possibly damaging	Het
Agbl2	C	T	2: 90,791,481	P104L	possibly damaging	Het
Alox12	G	T	11: 70,242,716	T594K	possibly damaging	Het
Als2	C	A	1: 59,215,387	K270N	probably benign	Het
Ankhd1	T	A	18: 36,634,734	C1235S	probably damaging	Het
Ankrd24	T	A	10: 81,634,944	I69N	probably damaging	Het
Aox4	G	A	1: 58,213,076	V37I	probably benign	Het
Arfgap3	A	G	15: 83,330,513		probably benign	Het
Asic1	C	T	15: 99,698,617		probably benign	Het
Atp8b5	A	G	4: 43,366,057	N776S	probably benign	Het
Bbs7	A	G	3: 36,605,734	I184T	probably benign	Het
Bbs9	A	T	9: 22,514,001	H117L	probably damaging	Het
Bnip2	T	C	9: 69,995,505	W10R	probably damaging	Het
Brd4	G	T	17: 32,224,123	Q175K	probably benign	Het
Bysl	A	T	17: 47,606,896	V124E	possibly damaging	Het
Cadm3	A	G	1: 173,346,573		probably benign	Het
Cc2d2a	T	C	5: 43,696,638		probably benign	Het
Ccdc134	G	T	15: 82,140,946	E215D	probably damaging	Het
Celsr3	G	T	9: 108,843,724		probably benign	Het
Cntn5	T	A	9: 9,781,775	D428V	probably damaging	Het
Cog1	A	G	11: 113,656,995		probably benign	Het
Col11a2	G	T	17: 34,062,546		probably benign	Het
Cyp4f13	G	A	17: 32,924,969		probably benign	Het
D3Ertd254e	A	G	3: 36,165,154	H442R	possibly damaging	Het
Dffb	T	A	4: 153,965,378	K343*	probably null	Het
Dnah9	T	A	11: 65,911,852	I224F	possibly damaging	Het
Dolk	A	T	2: 30,286,019	C5S	probably benign	Het
Ebf1	A	T	11: 44,869,088		probably benign	Het
Elac1	A	G	18: 73,742,363	L199P	probably damaging	Het
Elmod1	A	C	9: 53,935,547		probably benign	Het
Ep400	A	C	5: 110,724,407		probably benign	Het
F10	A	T	8: 13,048,196	N133I	probably damaging	Het
Fasn	A	G	11: 120,815,315	Y1068H	probably benign	Het
Fbxo24	T	C	5: 137,624,557	E12G	probably damaging	Het
Fer	G	T	17: 64,078,946	L304F	probably benign	Het
Filip1	A	C	9: 79,819,003	L778R	probably damaging	Het
Fli1	A	T	9: 32,423,981	I385N	probably benign	Het
Fpgs	A	T	2: 32,692,494	L89*	probably null	Het
Gab2	T	G	7: 97,299,241	I346R	probably damaging	Het
Gm10764	G	A	10: 87,290,979	G83R	unknown	Het
Gpr83	G	T	9: 14,864,842	C153F	possibly damaging	Het
Gtf3c3	A	G	1: 54,403,536	L783P	possibly damaging	Het
Gys2	A	G	6: 142,472,668		probably benign	Het
Heatr9	C	T	11: 83,513,338	V378I	possibly damaging	Het
Helz	A	T	11: 107,637,914	Y920F	possibly damaging	Het
Inpp5f	A	T	7: 128,695,183	Q459L	probably damaging	Het
Ints12	T	C	3: 133,109,045	S338P	probably benign	Het
Kif13a	T	C	13: 46,791,351	T925A	probably benign	Het
Kif1a	C	T	1: 93,042,093	V1051I	probably damaging	Het
Kif7	T	A	7: 79,699,560	H1119L	possibly damaging	Het
Kmt2d	C	T	15: 98,850,137		probably benign	Het
Krt90	C	T	15: 101,562,675	G51S	possibly damaging	Het
Krtap31-2	A	T	11: 99,936,746	I135F	possibly damaging	Het
Lrp2	T	C	2: 69,428,630	E4572G	probably benign	Het
Mapk8ip1	T	C	2: 92,385,944	E493G	probably damaging	Het
Matk	T	G	10: 81,258,492	L28V	probably benign	Het
Mcc	T	A	18: 44,759,299	T83S	probably benign	Het
Mtch1	A	T	17: 29,340,106	M204K	possibly damaging	Het
Muc4	T	G	16: 32,765,746	C2622G	possibly damaging	Het
Myo5a	G	A	9: 75,186,123		probably null	Het
Myoz3	T	C	18: 60,578,951	Y185C	probably damaging	Het
Nnmt	A	G	9: 48,592,138	V196A	probably benign	Het
Nr2f2	G	C	7: 70,360,175	P52R	probably damaging	Het
Nup214	T	A	2: 31,998,057		probably benign	Het
Olfr1261	T	A	2: 89,993,806	F138I	probably benign	Het
Olfr1383	T	C	11: 49,523,912	L63P	probably damaging	Het
Olfr169	T	G	16: 19,566,294	E196D	probably damaging	Het
Pank3	T	C	11: 35,781,716		probably benign	Het
Parm1	A	T	5: 91,594,294	N174Y	possibly damaging	Het
Pcgf2	A	T	11: 97,692,418		probably null	Het
Pclo	A	T	5: 14,775,420	K4661M	unknown	Het
Pcsk7	A	C	9: 45,916,059	S375R	probably damaging	Het
Pdzrn4	G	T	15: 92,770,319	S784I	possibly damaging	Het
Pex6	T	A	17: 46,723,737		probably null	Het
Pi4ka	C	T	16: 17,297,635	V1384M	probably benign	Het
Polr3f	T	A	2: 144,536,275		probably benign	Het
Ppp2r3a	A	T	9: 101,212,284	V280E	probably damaging	Het
Prdm14	C	T	1: 13,122,448	G356R	probably damaging	Het
Prepl	A	G	17: 85,065,038		probably null	Het
Primpol	T	C	8: 46,599,814	D154G	probably damaging	Het
Ptchd4	A	C	17: 42,503,416	H736P	probably damaging	Het
Rab11fip1	A	G	8: 27,152,225	S849P	probably damaging	Het
Rap1gap	T	A	4: 137,719,351	D405E	probably damaging	Het
Rbm26	T	C	14: 105,131,938	T686A	probably benign	Het
Rint1	A	G	5: 23,816,932		probably benign	Het
Rnasek	G	T	11: 70,238,440	Y62*	probably null	Het
Rnf17	T	G	14: 56,482,084	N930K	possibly damaging	Het
Sap130	A	G	18: 31,680,681		probably benign	Het
Sectm1b	T	A	11: 121,055,785	I95F	probably damaging	Het
Sema4f	A	T	6: 82,939,466	I53N	possibly damaging	Het
Siglec1	T	C	2: 131,085,476	T137A	probably damaging	Het
Six5	A	C	7: 19,097,022		probably null	Het
Slc22a30	A	T	19: 8,345,357	I345N	probably benign	Het
Slc25a27	A	T	17: 43,643,627	M316K	probably benign	Het
Slc2a8	A	T	2: 32,980,104		probably benign	Het
Snx1	G	A	9: 66,101,326		probably benign	Het
Spag17	A	G	3: 100,085,368	T1727A	probably benign	Het
Spata20	T	C	11: 94,481,646	D633G	probably benign	Het
Spock1	C	T	13: 57,436,109		probably null	Het
Sra1	A	T	18: 36,675,706	Y291*	probably null	Het
Sspo	C	A	6: 48,493,186	P4520T	probably damaging	Het
Stat4	A	G	1: 52,011,857	N25S	probably benign	Het
Tbx18	A	T	9: 87,715,516		probably benign	Het
Tctex1d2	A	G	16: 32,426,887	D118G	probably damaging	Het
Tep1	T	A	14: 50,846,987	I187F	probably damaging	Het
Tfap2b	A	T	1: 19,234,123	I368F	probably damaging	Het
Tmtc1	A	T	6: 148,246,837	L711Q	probably damaging	Het
Tmx3	T	A	18: 90,538,489		probably benign	Het
Tnc	G	T	4: 63,970,420	T1803K	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tpgs1	C	T	10: 79,675,866	P281S	probably benign	Het
Trim45	A	G	3: 100,929,844	R499G	probably benign	Het
Tulp3	A	T	6: 128,325,958	Y299*	probably null	Het
Ube4a	A	T	9: 44,946,178		probably benign	Het
Ubr3	T	G	2: 69,951,405	S642R	probably damaging	Het
Vcpip1	A	T	1: 9,747,206	Y317*	probably null	Het
Vmn1r115	G	A	7: 20,844,402	T195I	probably benign	Het
Vmn1r226	G	A	17: 20,687,577	V24I	probably benign	Het
Wdr41	C	T	13: 95,017,406	A321V	probably damaging	Het
Wfdc5	T	C	2: 164,178,835	N44D	probably benign	Het
Wnt7b	C	A	15: 85,558,902		probably null	Het
Zfp108	T	C	7: 24,261,783	S600P	possibly damaging	Het
Zfp385b	A	G	2: 77,415,728		probably null	Het
Zfp395	T	C	14: 65,386,480	S133P	probably benign	Het
Zfp407	T	A	18: 84,558,711	M1426L	probably damaging	Het
Zfp641	T	G	15: 98,289,127	N191T	possibly damaging	Het
Zfp687	T	C	3: 95,011,553	S303G	probably damaging	Het
Zfp759	T	A	13: 67,138,813	F143I	possibly damaging	Het
Zgrf1	G	C	3: 127,615,446	E1690Q	probably damaging	Het

Other mutations in Arhgef4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Arhgef4	APN	1	34811696	missense	possibly damaging	0.88
IGL02376:Arhgef4	APN	1	34806059	missense	probably damaging	1.00
IGL02604:Arhgef4	APN	1	34811723	nonsense	probably null
IGL03240:Arhgef4	APN	1	34806026	missense	probably benign	0.03
BB004:Arhgef4	UTSW	1	34807253	missense	probably damaging	1.00
BB014:Arhgef4	UTSW	1	34807253	missense	probably damaging	1.00
R0095:Arhgef4	UTSW	1	34732370	nonsense	probably null
R0157:Arhgef4	UTSW	1	34806394	missense	probably damaging	1.00
R0383:Arhgef4	UTSW	1	34810533	missense	probably damaging	1.00
R0440:Arhgef4	UTSW	1	34745448	splice site	probably null
R0452:Arhgef4	UTSW	1	34732322	missense	probably damaging	0.97
R0893:Arhgef4	UTSW	1	34807110	missense	probably damaging	1.00
R1429:Arhgef4	UTSW	1	34810339	missense	probably damaging	1.00
R1437:Arhgef4	UTSW	1	34723945	missense	unknown
R1669:Arhgef4	UTSW	1	34732158	missense	possibly damaging	0.86
R1780:Arhgef4	UTSW	1	34724160	missense	possibly damaging	0.73
R1809:Arhgef4	UTSW	1	34810555	critical splice donor site	probably null
R1879:Arhgef4	UTSW	1	34722440	missense	unknown
R1908:Arhgef4	UTSW	1	34724259	missense	probably benign	0.01
R1919:Arhgef4	UTSW	1	34811140	missense	probably damaging	0.98
R2020:Arhgef4	UTSW	1	34723810	missense	unknown
R2058:Arhgef4	UTSW	1	34722377	missense	unknown
R2213:Arhgef4	UTSW	1	34807149	splice site	probably null
R2851:Arhgef4	UTSW	1	34724048	missense	unknown
R2852:Arhgef4	UTSW	1	34724048	missense	unknown
R2853:Arhgef4	UTSW	1	34724048	missense	unknown
R3697:Arhgef4	UTSW	1	34722440	missense	unknown
R4012:Arhgef4	UTSW	1	34725106	missense	possibly damaging	0.75
R4118:Arhgef4	UTSW	1	34732347	missense	probably damaging	0.98
R4133:Arhgef4	UTSW	1	34806104	missense	probably damaging	1.00
R4534:Arhgef4	UTSW	1	34723081	missense	unknown
R4535:Arhgef4	UTSW	1	34723081	missense	unknown
R4581:Arhgef4	UTSW	1	34732124	missense	possibly damaging	0.83
R4665:Arhgef4	UTSW	1	34806032	missense	possibly damaging	0.89
R4678:Arhgef4	UTSW	1	34722668	missense	unknown
R4684:Arhgef4	UTSW	1	34811785	splice site	probably null
R4706:Arhgef4	UTSW	1	34732217	missense	probably benign	0.00
R4745:Arhgef4	UTSW	1	34807275	missense	probably damaging	1.00
R4747:Arhgef4	UTSW	1	34723274	missense	unknown
R4988:Arhgef4	UTSW	1	34723454	missense	unknown
R5063:Arhgef4	UTSW	1	34724215	missense	probably benign	0.00
R5154:Arhgef4	UTSW	1	34732374	missense	probably benign	0.43
R5156:Arhgef4	UTSW	1	34723274	missense	unknown
R5263:Arhgef4	UTSW	1	34724997	missense	possibly damaging	0.84
R5450:Arhgef4	UTSW	1	34807324	intron	probably benign
R5807:Arhgef4	UTSW	1	34807615	intron	probably benign
R5863:Arhgef4	UTSW	1	34722845	missense	unknown
R6034:Arhgef4	UTSW	1	34721903	missense	unknown
R6034:Arhgef4	UTSW	1	34721903	missense	unknown
R6311:Arhgef4	UTSW	1	34723981	missense	unknown
R6315:Arhgef4	UTSW	1	34723477	missense	unknown
R6316:Arhgef4	UTSW	1	34723477	missense	unknown
R6318:Arhgef4	UTSW	1	34723477	missense	unknown
R6323:Arhgef4	UTSW	1	34723477	missense	unknown
R6324:Arhgef4	UTSW	1	34723477	missense	unknown
R6325:Arhgef4	UTSW	1	34723477	missense	unknown
R6340:Arhgef4	UTSW	1	34732223	missense	probably damaging	1.00
R6835:Arhgef4	UTSW	1	34806493	missense	probably damaging	1.00
R6981:Arhgef4	UTSW	1	34722452	missense	unknown
R7087:Arhgef4	UTSW	1	34811686	missense	probably damaging	0.96
R7297:Arhgef4	UTSW	1	34807192	missense	probably damaging	1.00
R7525:Arhgef4	UTSW	1	34809704	missense	probably damaging	1.00
R7614:Arhgef4	UTSW	1	34732235	missense	possibly damaging	0.67
R7693:Arhgef4	UTSW	1	34724141	missense	probably benign	0.01
R7892:Arhgef4	UTSW	1	34721804	missense	unknown
R7895:Arhgef4	UTSW	1	34806397	missense	probably damaging	1.00
R7927:Arhgef4	UTSW	1	34807253	missense	probably damaging	1.00
R7965:Arhgef4	UTSW	1	34811681	missense	probably benign
R7973:Arhgef4	UTSW	1	34724437	missense	possibly damaging	0.83
R7979:Arhgef4	UTSW	1	34721897	missense	unknown
R8160:Arhgef4	UTSW	1	34723574	missense	unknown
R8175:Arhgef4	UTSW	1	34810374	missense	probably benign
R8178:Arhgef4	UTSW	1	34722902	missense	unknown
R9046:Arhgef4	UTSW	1	34811765	missense	possibly damaging	0.92
R9077:Arhgef4	UTSW	1	34721743	missense	unknown
R9209:Arhgef4	UTSW	1	34725160	critical splice donor site	probably null
R9209:Arhgef4	UTSW	1	34810495	missense	probably benign
R9355:Arhgef4	UTSW	1	34810549	missense	probably benign	0.02
RF012:Arhgef4	UTSW	1	34724484	small deletion	probably benign
X0062:Arhgef4	UTSW	1	34724227	missense	probably benign	0.35
YA93:Arhgef4	UTSW	1	34732217	missense	probably benign	0.00
Z1176:Arhgef4	UTSW	1	34723729	missense	unknown
Z1176:Arhgef4	UTSW	1	34804926	missense	probably damaging	1.00
Z1177:Arhgef4	UTSW	1	34722921	missense	unknown
Z1177:Arhgef4	UTSW	1	34723366	missense	unknown
Z1177:Arhgef4	UTSW	1	34724259	missense	probably benign	0.01

Predicted Primers

Posted On

2015-02-03