Mutagenetix > Incidental Mutation

Incidental Mutation 'R7693:Arhgef4'

593474

Institutional Source

Beutler Lab

Gene Symbol

Arhgef4

Ensembl Gene

ENSMUSG00000037509

Gene Name

Rho guanine nucleotide exchange factor 4

Synonyms

Asef, 9330140K16Rik, C230030N03Rik

MMRRC Submission

045708-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7693 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34717263-34851819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34763222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 826 (E826G)

Ref Sequence

ENSEMBL: ENSMUSP00000124213 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159747]

AlphaFold

Q7TNR9

Predicted Effect

probably benign
Transcript: ENSMUST00000159747
AA Change: E826G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000124213
Gene: ENSMUSG00000037509
AA Change: E826G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	A	7: 45,827,968 (GRCm39)	S63I	probably damaging	Het
Adcy10	A	G	1: 165,398,340 (GRCm39)	E1479G	probably benign	Het
Alpl	C	T	4: 137,471,120 (GRCm39)	G339R	probably damaging	Het
Anapc1	A	G	2: 128,483,457 (GRCm39)	S1213P	possibly damaging	Het
Aoc3	C	A	11: 101,223,338 (GRCm39)	H525N	probably benign	Het
Arhgap33	A	T	7: 30,225,537 (GRCm39)		probably null	Het
Art2a	A	T	7: 101,204,056 (GRCm39)	*161R	probably null	Het
Azi2	A	T	9: 117,876,661 (GRCm39)	N59I	probably damaging	Het
Cdhr5	T	C	7: 140,851,691 (GRCm39)	T538A	probably benign	Het
Cilk1	A	G	9: 78,065,008 (GRCm39)	D306G	probably benign	Het
Csnk2b	C	A	17: 35,336,972 (GRCm39)	G123C	probably null	Het
Dnaaf10	T	C	11: 17,162,064 (GRCm39)	V34A	probably benign	Het
Dnaja2	G	T	8: 86,266,939 (GRCm39)	P306Q	probably damaging	Het
Dusp19	A	G	2: 80,447,905 (GRCm39)	T60A	probably benign	Het
Epm2aip1	G	A	9: 111,101,443 (GRCm39)	G139S	probably benign	Het
Fer1l4	A	G	2: 155,862,351 (GRCm39)	F1774S	possibly damaging	Het
Fxyd3	T	A	7: 30,770,598 (GRCm39)	R66S	probably benign	Het
Gjd2	T	C	2: 113,842,309 (GRCm39)	N56S	probably damaging	Het
Gmcl1	A	G	6: 86,691,239 (GRCm39)	I252T	probably benign	Het
Gnl1	T	C	17: 36,299,112 (GRCm39)	C517R	probably damaging	Het
Grin1	T	A	2: 25,208,679 (GRCm39)	M74L	possibly damaging	Het
Hinfp	A	G	9: 44,209,642 (GRCm39)	M244T	probably damaging	Het
Iqca1l	T	C	5: 24,751,626 (GRCm39)	I541V	probably benign	Het
Kcnma1	T	A	14: 23,417,680 (GRCm39)	I850F	probably damaging	Het
Kif13a	G	T	13: 46,904,089 (GRCm39)	T1748N	probably benign	Het
Lama1	C	T	17: 68,124,026 (GRCm39)	A2817V		Het
Map6	C	T	7: 98,985,499 (GRCm39)	L671F	possibly damaging	Het
Neb	C	T	2: 52,189,581 (GRCm39)	A770T	probably damaging	Het
Noc2l	T	A	4: 156,324,764 (GRCm39)	H280Q	probably damaging	Het
Ntrk1	T	C	3: 87,695,733 (GRCm39)	D205G	probably benign	Het
Or5m5	A	T	2: 85,814,979 (GRCm39)	Y265F	probably damaging	Het
Or7a37	A	T	10: 78,806,137 (GRCm39)	Y218F	probably damaging	Het
Parp9	A	G	16: 35,777,282 (GRCm39)	S409G	possibly damaging	Het
Pcnx2	G	A	8: 126,613,864 (GRCm39)	T529I	probably benign	Het
Popdc3	A	G	10: 45,191,227 (GRCm39)	S113G	probably benign	Het
Rbm8a	T	C	3: 96,537,624 (GRCm39)	I25T	probably damaging	Het
Rfc4	A	G	16: 22,946,163 (GRCm39)	W40R	probably damaging	Het
Rp1	T	C	1: 4,417,626 (GRCm39)	D1162G	probably damaging	Het
Slc14a2	G	A	18: 78,197,218 (GRCm39)	A846V	possibly damaging	Het
Spx	A	G	6: 142,360,516 (GRCm39)	D56G	probably damaging	Het
Tanc2	T	A	11: 105,814,293 (GRCm39)	N1912K	probably damaging	Het
Tmcc1	T	C	6: 116,001,843 (GRCm39)	I559V		Het
Tnfaip3	A	G	10: 18,880,528 (GRCm39)	V513A	probably benign	Het
Ucp3	T	C	7: 100,131,799 (GRCm39)	F217L	probably benign	Het
Zc3h11a	A	T	1: 133,573,475 (GRCm39)	M55K	probably damaging	Het
Zfp316	G	A	5: 143,249,167 (GRCm39)	T156I	unknown	Het

Other mutations in Arhgef4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Arhgef4	APN	1	34,850,777 (GRCm39)	missense	possibly damaging	0.88
IGL02376:Arhgef4	APN	1	34,845,140 (GRCm39)	missense	probably damaging	1.00
IGL02604:Arhgef4	APN	1	34,850,804 (GRCm39)	nonsense	probably null
IGL03240:Arhgef4	APN	1	34,845,107 (GRCm39)	missense	probably benign	0.03
BB004:Arhgef4	UTSW	1	34,846,334 (GRCm39)	missense	probably damaging	1.00
BB014:Arhgef4	UTSW	1	34,846,334 (GRCm39)	missense	probably damaging	1.00
R0095:Arhgef4	UTSW	1	34,771,451 (GRCm39)	nonsense	probably null
R0157:Arhgef4	UTSW	1	34,845,475 (GRCm39)	missense	probably damaging	1.00
R0243:Arhgef4	UTSW	1	34,846,080 (GRCm39)	splice site	probably null
R0383:Arhgef4	UTSW	1	34,849,614 (GRCm39)	missense	probably damaging	1.00
R0440:Arhgef4	UTSW	1	34,784,529 (GRCm39)	splice site	probably null
R0452:Arhgef4	UTSW	1	34,771,403 (GRCm39)	missense	probably damaging	0.97
R0893:Arhgef4	UTSW	1	34,846,191 (GRCm39)	missense	probably damaging	1.00
R1429:Arhgef4	UTSW	1	34,849,420 (GRCm39)	missense	probably damaging	1.00
R1437:Arhgef4	UTSW	1	34,763,026 (GRCm39)	missense	unknown
R1669:Arhgef4	UTSW	1	34,771,239 (GRCm39)	missense	possibly damaging	0.86
R1780:Arhgef4	UTSW	1	34,763,241 (GRCm39)	missense	possibly damaging	0.73
R1809:Arhgef4	UTSW	1	34,849,636 (GRCm39)	critical splice donor site	probably null
R1879:Arhgef4	UTSW	1	34,761,521 (GRCm39)	missense	unknown
R1908:Arhgef4	UTSW	1	34,763,340 (GRCm39)	missense	probably benign	0.01
R1919:Arhgef4	UTSW	1	34,850,221 (GRCm39)	missense	probably damaging	0.98
R2020:Arhgef4	UTSW	1	34,762,891 (GRCm39)	missense	unknown
R2058:Arhgef4	UTSW	1	34,761,458 (GRCm39)	missense	unknown
R2213:Arhgef4	UTSW	1	34,846,230 (GRCm39)	splice site	probably null
R2851:Arhgef4	UTSW	1	34,763,129 (GRCm39)	missense	unknown
R2852:Arhgef4	UTSW	1	34,763,129 (GRCm39)	missense	unknown
R2853:Arhgef4	UTSW	1	34,763,129 (GRCm39)	missense	unknown
R3697:Arhgef4	UTSW	1	34,761,521 (GRCm39)	missense	unknown
R4012:Arhgef4	UTSW	1	34,764,187 (GRCm39)	missense	possibly damaging	0.75
R4118:Arhgef4	UTSW	1	34,771,428 (GRCm39)	missense	probably damaging	0.98
R4133:Arhgef4	UTSW	1	34,845,185 (GRCm39)	missense	probably damaging	1.00
R4534:Arhgef4	UTSW	1	34,762,162 (GRCm39)	missense	unknown
R4535:Arhgef4	UTSW	1	34,762,162 (GRCm39)	missense	unknown
R4581:Arhgef4	UTSW	1	34,771,205 (GRCm39)	missense	possibly damaging	0.83
R4665:Arhgef4	UTSW	1	34,845,113 (GRCm39)	missense	possibly damaging	0.89
R4678:Arhgef4	UTSW	1	34,761,749 (GRCm39)	missense	unknown
R4684:Arhgef4	UTSW	1	34,850,866 (GRCm39)	splice site	probably null
R4706:Arhgef4	UTSW	1	34,771,298 (GRCm39)	missense	probably benign	0.00
R4745:Arhgef4	UTSW	1	34,846,356 (GRCm39)	missense	probably damaging	1.00
R4747:Arhgef4	UTSW	1	34,762,355 (GRCm39)	missense	unknown
R4988:Arhgef4	UTSW	1	34,762,535 (GRCm39)	missense	unknown
R5063:Arhgef4	UTSW	1	34,763,296 (GRCm39)	missense	probably benign	0.00
R5154:Arhgef4	UTSW	1	34,771,455 (GRCm39)	missense	probably benign	0.43
R5156:Arhgef4	UTSW	1	34,762,355 (GRCm39)	missense	unknown
R5263:Arhgef4	UTSW	1	34,764,078 (GRCm39)	missense	possibly damaging	0.84
R5450:Arhgef4	UTSW	1	34,846,405 (GRCm39)	intron	probably benign
R5807:Arhgef4	UTSW	1	34,846,696 (GRCm39)	intron	probably benign
R5863:Arhgef4	UTSW	1	34,761,926 (GRCm39)	missense	unknown
R6034:Arhgef4	UTSW	1	34,760,984 (GRCm39)	missense	unknown
R6034:Arhgef4	UTSW	1	34,760,984 (GRCm39)	missense	unknown
R6311:Arhgef4	UTSW	1	34,763,062 (GRCm39)	missense	unknown
R6315:Arhgef4	UTSW	1	34,762,558 (GRCm39)	missense	unknown
R6316:Arhgef4	UTSW	1	34,762,558 (GRCm39)	missense	unknown
R6318:Arhgef4	UTSW	1	34,762,558 (GRCm39)	missense	unknown
R6323:Arhgef4	UTSW	1	34,762,558 (GRCm39)	missense	unknown
R6324:Arhgef4	UTSW	1	34,762,558 (GRCm39)	missense	unknown
R6325:Arhgef4	UTSW	1	34,762,558 (GRCm39)	missense	unknown
R6340:Arhgef4	UTSW	1	34,771,304 (GRCm39)	missense	probably damaging	1.00
R6835:Arhgef4	UTSW	1	34,845,574 (GRCm39)	missense	probably damaging	1.00
R6981:Arhgef4	UTSW	1	34,761,533 (GRCm39)	missense	unknown
R7087:Arhgef4	UTSW	1	34,850,767 (GRCm39)	missense	probably damaging	0.96
R7297:Arhgef4	UTSW	1	34,846,273 (GRCm39)	missense	probably damaging	1.00
R7525:Arhgef4	UTSW	1	34,848,785 (GRCm39)	missense	probably damaging	1.00
R7614:Arhgef4	UTSW	1	34,771,316 (GRCm39)	missense	possibly damaging	0.67
R7892:Arhgef4	UTSW	1	34,760,885 (GRCm39)	missense	unknown
R7895:Arhgef4	UTSW	1	34,845,478 (GRCm39)	missense	probably damaging	1.00
R7927:Arhgef4	UTSW	1	34,846,334 (GRCm39)	missense	probably damaging	1.00
R7965:Arhgef4	UTSW	1	34,850,762 (GRCm39)	missense	probably benign
R7973:Arhgef4	UTSW	1	34,763,518 (GRCm39)	missense	possibly damaging	0.83
R7979:Arhgef4	UTSW	1	34,760,978 (GRCm39)	missense	unknown
R8160:Arhgef4	UTSW	1	34,762,655 (GRCm39)	missense	unknown
R8175:Arhgef4	UTSW	1	34,849,455 (GRCm39)	missense	probably benign
R8178:Arhgef4	UTSW	1	34,761,983 (GRCm39)	missense	unknown
R9046:Arhgef4	UTSW	1	34,850,846 (GRCm39)	missense	possibly damaging	0.92
R9077:Arhgef4	UTSW	1	34,760,824 (GRCm39)	missense	unknown
R9209:Arhgef4	UTSW	1	34,849,576 (GRCm39)	missense	probably benign
R9209:Arhgef4	UTSW	1	34,764,241 (GRCm39)	critical splice donor site	probably null
R9355:Arhgef4	UTSW	1	34,849,630 (GRCm39)	missense	probably benign	0.02
R9489:Arhgef4	UTSW	1	34,761,745 (GRCm39)	missense	unknown
R9509:Arhgef4	UTSW	1	34,762,772 (GRCm39)	missense	unknown
R9605:Arhgef4	UTSW	1	34,761,745 (GRCm39)	missense	unknown
R9665:Arhgef4	UTSW	1	34,849,518 (GRCm39)	missense	probably benign
R9675:Arhgef4	UTSW	1	34,845,108 (GRCm39)	missense	probably benign
R9790:Arhgef4	UTSW	1	34,832,445 (GRCm39)	critical splice donor site	probably null
R9791:Arhgef4	UTSW	1	34,832,445 (GRCm39)	critical splice donor site	probably null
RF012:Arhgef4	UTSW	1	34,763,565 (GRCm39)	small deletion	probably benign
X0062:Arhgef4	UTSW	1	34,763,308 (GRCm39)	missense	probably benign	0.35
YA93:Arhgef4	UTSW	1	34,771,298 (GRCm39)	missense	probably benign	0.00
Z1176:Arhgef4	UTSW	1	34,844,007 (GRCm39)	missense	probably damaging	1.00
Z1176:Arhgef4	UTSW	1	34,762,810 (GRCm39)	missense	unknown
Z1177:Arhgef4	UTSW	1	34,763,340 (GRCm39)	missense	probably benign	0.01
Z1177:Arhgef4	UTSW	1	34,762,447 (GRCm39)	missense	unknown
Z1177:Arhgef4	UTSW	1	34,762,002 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGTCTTGGCTTCAAGCACC -3'
(R):5'- AGCCTGGCTTTGATCTTGC -3'

Sequencing Primer
(F):5'- TGGAGTTCCAGGAACCATGC -3'
(R):5'- GCCTGGCTTTGATCTTGCTTTCTG -3'

Posted On

2019-11-12