Mutagenetix > Incidental Mutation

Incidental Mutation 'R6323:Arhgef4'

510182

Institutional Source

Beutler Lab

Gene Symbol

Arhgef4

Ensembl Gene

ENSMUSG00000037509

Gene Name

Rho guanine nucleotide exchange factor 4

Synonyms

Asef, 9330140K16Rik, C230030N03Rik

MMRRC Submission

044477-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6323 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34717263-34851819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34762558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 605 (A605T)

Ref Sequence

ENSEMBL: ENSMUSP00000124213 (fasta)

Gene Model

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

AlphaFold

Q7TNR9

Predicted Effect

unknown
Transcript: ENSMUST00000159747
AA Change: A605T

SMART Domains

Protein: ENSMUSP00000124213
Gene: ENSMUSG00000037509
AA Change: A605T

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

Meta Mutation Damage Score

0.0756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

98% (40/41)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,436,568 (GRCm39)	T171A	unknown	Het
Akr1c6	A	G	13: 4,497,017 (GRCm39)	K153R	possibly damaging	Het
Ano1	T	A	7: 144,165,423 (GRCm39)	I601F	possibly damaging	Het
Arfgef2	A	G	2: 166,676,404 (GRCm39)	Y8C	probably damaging	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
Baz2a	A	G	10: 127,962,286 (GRCm39)	I1816V	probably benign	Het
Cadps2	T	A	6: 23,263,577 (GRCm39)	T1294S	probably benign	Het
Casz1	T	C	4: 149,026,161 (GRCm39)	S952P	possibly damaging	Het
Cdc20	T	C	4: 118,292,761 (GRCm39)	N329S	probably damaging	Het
Ceacam1	A	C	7: 25,174,076 (GRCm39)	L193R	probably damaging	Het
Celf5	A	G	10: 81,305,337 (GRCm39)	S143P	probably damaging	Het
Cfap74	A	G	4: 155,548,395 (GRCm39)	D1342G	possibly damaging	Het
Chd5	C	A	4: 152,451,791 (GRCm39)	T701K	probably damaging	Het
Cpt1b	C	A	15: 89,303,266 (GRCm39)	M596I	probably benign	Het
Ctrb1	A	G	8: 112,416,223 (GRCm39)	V21A	probably benign	Het
Diaph3	C	T	14: 87,203,889 (GRCm39)	V579I	probably benign	Het
Dlc1	T	C	8: 37,405,537 (GRCm39)	E84G	possibly damaging	Het
Dnajc14	A	G	10: 128,643,359 (GRCm39)	E427G	probably damaging	Het
Galns	T	C	8: 123,325,390 (GRCm39)	D254G	probably damaging	Het
Gpn3	C	T	5: 122,510,638 (GRCm39)		probably benign	Het
Gstm1	A	G	3: 107,925,063 (GRCm39)	V10A	probably benign	Het
Krt13	C	A	11: 100,011,976 (GRCm39)	A116S	probably damaging	Het
Lars2	A	T	9: 123,270,659 (GRCm39)	K584*	probably null	Het
Lrrc43	G	T	5: 123,641,949 (GRCm39)	G600W	probably damaging	Het
Madd	G	T	2: 90,991,783 (GRCm39)		probably null	Het
Mnat1	A	G	12: 73,214,878 (GRCm39)	D65G	probably damaging	Het
Nsmf	A	G	2: 24,945,063 (GRCm39)	N42S	possibly damaging	Het
Or4k77	T	C	2: 111,199,046 (GRCm39)	L23P	possibly damaging	Het
Or5ac16	A	G	16: 59,022,645 (GRCm39)	L48P	probably damaging	Het
Palld	A	T	8: 62,173,727 (GRCm39)	W311R	probably damaging	Het
Pax1	T	A	2: 147,210,321 (GRCm39)	V352E	probably damaging	Het
Rnf2	T	C	1: 151,348,967 (GRCm39)	K51R	probably damaging	Het
Rpl7l1	C	A	17: 47,093,564 (GRCm39)		probably benign	Het
Slc1a6	G	A	10: 78,648,721 (GRCm39)	G481S	probably damaging	Het
Slc34a1	A	G	13: 23,998,969 (GRCm39)	I121V	probably benign	Het
Spata31h1	G	A	10: 82,118,916 (GRCm39)	T4698I	probably benign	Het
Trav6-1	T	C	14: 52,876,248 (GRCm39)	V56A	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r79	T	A	7: 86,650,522 (GRCm39)	C103S	probably benign	Het
Wwp2	A	T	8: 108,267,303 (GRCm39)	H305L	probably damaging	Het
Zfp593	A	G	4: 133,972,224 (GRCm39)	V94A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGGGAAGGCCTTGCAAAGTC -3'
(R):5'- TCACGTGCTCTATGCCTTGG -3'

Sequencing Primer
(F):5'- AAGGCCTTGCAAAGTCTTTTGGAC -3'
(R):5'- TTGGGCCAGCAGCTGAAG -3'

Posted On

2018-04-02