Mutagenetix > Incidental Mutation

Incidental Mutation 'R0095:Arhgef4'

17367

Institutional Source

Beutler Lab

Gene Symbol

Arhgef4

Ensembl Gene

ENSMUSG00000037509

Gene Name

Rho guanine nucleotide exchange factor 4

Synonyms

Asef, 9330140K16Rik, C230030N03Rik

MMRRC Submission

038381-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0095 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

34717263-34851819 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 34771451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 86 (Q86*)

Ref Sequence

ENSEMBL: ENSMUSP00000124906 (fasta)

Gene Model

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

AlphaFold

Q7TNR9

Predicted Effect

probably null
Transcript: ENSMUST00000159747
AA Change: Q1253*

SMART Domains

Protein: ENSMUSP00000124213
Gene: ENSMUSG00000037509
AA Change: Q1253*

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: ENSMUST00000162599
AA Change: Q86*

SMART Domains

Protein: ENSMUSP00000124906
Gene: ENSMUSG00000037509
AA Change: Q86*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 88.6%
3x: 85.1%
10x: 74.3%
20x: 56.3%

Validation Efficiency

88% (50/57)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adhfe1	T	C	1: 9,630,402 (GRCm39)	I317T	possibly damaging	Het
Aldh3a2	C	T	11: 61,141,774 (GRCm39)	G21D	probably damaging	Het
Alms1	C	A	6: 85,597,235 (GRCm39)	T1156N	possibly damaging	Het
Anxa8	G	A	14: 33,808,028 (GRCm39)	A6T	probably benign	Het
Atp4a	T	A	7: 30,420,160 (GRCm39)	I769N	probably damaging	Het
Cacnb2	G	T	2: 14,963,586 (GRCm39)	V61F	probably damaging	Het
Clcf1	T	G	19: 4,265,842 (GRCm39)		probably benign	Het
Cmah	G	T	13: 24,620,668 (GRCm39)	A301S	probably benign	Het
Col6a4	A	G	9: 105,952,555 (GRCm39)	W448R	probably benign	Het
Csmd1	A	T	8: 16,283,065 (GRCm39)	D630E	probably damaging	Het
Dock10	A	T	1: 80,501,788 (GRCm39)	Y1434N	probably benign	Het
Etl4	A	G	2: 20,748,679 (GRCm39)	D137G	probably damaging	Het
Fer	A	T	17: 64,248,321 (GRCm39)	E361V	possibly damaging	Het
Foxp2	C	A	6: 15,196,976 (GRCm39)	A6E	probably damaging	Het
Gpr3	T	A	4: 132,938,597 (GRCm39)	D25V	probably benign	Het
Gstm7	A	T	3: 107,837,879 (GRCm39)		probably benign	Het
Gys1	T	C	7: 45,094,073 (GRCm39)	V332A	possibly damaging	Het
Igsf10	A	T	3: 59,238,617 (GRCm39)	Y521*	probably null	Het
Itk	T	C	11: 46,233,279 (GRCm39)	D266G	probably damaging	Het
Kdm1a	C	T	4: 136,278,205 (GRCm39)	R839H	probably benign	Het
Lypla1	T	C	1: 4,900,550 (GRCm39)		probably benign	Het
Mmp1a	G	A	9: 7,465,621 (GRCm39)	G186D	possibly damaging	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Necab1	T	A	4: 14,960,027 (GRCm39)	N307Y	possibly damaging	Het
Or5p81	A	C	7: 108,267,252 (GRCm39)	I210L	probably benign	Het
Plekha5	T	C	6: 140,474,323 (GRCm39)	F84L	probably damaging	Het
Plxnb2	A	G	15: 89,049,534 (GRCm39)	S562P	probably benign	Het
Rfx8	C	T	1: 39,724,696 (GRCm39)	V222M	possibly damaging	Het
Rpap3	A	G	15: 97,578,417 (GRCm39)		probably benign	Het
Rpl6	T	G	5: 121,343,902 (GRCm39)	V115G	possibly damaging	Het
Sec16a	A	T	2: 26,315,772 (GRCm39)		probably null	Het
Sema3d	T	C	5: 12,613,314 (GRCm39)	Y464H	probably damaging	Het
Sgo2a	T	A	1: 58,054,714 (GRCm39)	N299K	probably benign	Het
Tecrl	T	C	5: 83,442,417 (GRCm39)		probably benign	Het
Thsd7a	T	C	6: 12,320,969 (GRCm39)	T1569A	probably damaging	Het
U2surp	T	C	9: 95,382,737 (GRCm39)		probably null	Het
Unc45a	T	C	7: 79,979,291 (GRCm39)	D567G	probably damaging	Het
Zfp532	A	G	18: 65,757,855 (GRCm39)	Y596C	probably damaging	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
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
R7693:Arhgef4	UTSW	1	34,763,222 (GRCm39)	missense	probably benign	0.01
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

Posted On

2013-01-20