Mutagenetix > Incidental Mutation

Incidental Mutation 'R6316:Arhgef4'

509968

Institutional Source

Beutler Lab

Gene Symbol

Arhgef4

Ensembl Gene

ENSMUSG00000037509

Gene Name

Rho guanine nucleotide exchange factor 4

Synonyms

Asef, 9330140K16Rik, C230030N03Rik

MMRRC Submission

044416-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6316 (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: 99.3%
20x: 98.0%

Validation Efficiency

97% (38/39)

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
Abca12	T	C	1: 71,353,118 (GRCm39)	T775A	probably benign	Het
Adam6a	A	T	12: 113,509,196 (GRCm39)	N523I	probably benign	Het
Adgrv1	T	C	13: 81,647,187 (GRCm39)	T3118A	possibly damaging	Het
Asxl3	A	G	18: 22,655,839 (GRCm39)	Y1283C	probably damaging	Het
Btbd2	T	A	10: 80,480,612 (GRCm39)	I319F	probably damaging	Het
Eno4	G	A	19: 58,948,723 (GRCm39)		probably null	Het
Glis2	T	A	16: 4,431,700 (GRCm39)		probably benign	Het
Grin2b	A	T	6: 135,757,277 (GRCm39)	C395S	probably benign	Het
H1f8	T	C	6: 115,925,876 (GRCm39)		probably null	Het
Kansl1l	T	A	1: 66,774,744 (GRCm39)	Y694F	probably benign	Het
Kcnj1	A	T	9: 32,308,632 (GRCm39)	E332V	probably damaging	Het
Klhdc7a	T	C	4: 139,694,113 (GRCm39)	E278G	probably benign	Het
Krt33a	T	C	11: 99,905,027 (GRCm39)	N160D	probably damaging	Het
Ksr2	A	G	5: 117,823,567 (GRCm39)	N448S	probably damaging	Het
Lpar6	A	G	14: 73,476,774 (GRCm39)	Y245C	probably damaging	Het
Magel2	T	C	7: 62,028,467 (GRCm39)	I457T	possibly damaging	Het
Manf	A	G	9: 106,766,385 (GRCm39)	L132P	probably damaging	Het
Moxd2	T	C	6: 40,860,481 (GRCm39)	D321G	probably damaging	Het
Mtmr12	T	A	15: 12,236,199 (GRCm39)	C153S	probably null	Het
Muc16	T	C	9: 18,553,115 (GRCm39)	T4393A	probably benign	Het
Notch3	T	C	17: 32,356,787 (GRCm39)		probably null	Het
Or9e1	A	G	11: 58,732,768 (GRCm39)	Y276C	probably damaging	Het
Pirb	T	A	7: 3,720,822 (GRCm39)	K225N	probably damaging	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Rilpl2	A	G	5: 124,615,943 (GRCm39)	V69A	probably damaging	Het
Smdt1	T	C	15: 82,232,210 (GRCm39)	V99A	probably damaging	Het
Smpd1	T	C	7: 105,204,709 (GRCm39)	V196A	probably benign	Het
Supt20	TCAGCAGCAGCAGCAGCAGCAGCA	TCAGCAGCAGCAGCAGCAGCAGCAGCA	3: 54,635,069 (GRCm39)		probably benign	Het
Tcte1	A	G	17: 45,845,786 (GRCm39)	H130R	probably benign	Het
Tead1	C	A	7: 112,491,046 (GRCm39)	Q296K	probably damaging	Het
Thoc2l	G	C	5: 104,667,595 (GRCm39)	G706R	probably damaging	Het
Tmem163	C	T	1: 127,479,102 (GRCm39)	S139N	probably benign	Het
Tor1aip2	G	T	1: 155,937,840 (GRCm39)	D192Y	probably damaging	Het
Trgv2	G	A	13: 19,520,912 (GRCm39)	Q61*	probably null	Het
Trib1	T	C	15: 59,521,264 (GRCm39)	S85P	probably benign	Het
Trrap	T	A	5: 144,750,336 (GRCm39)	N1581K	probably benign	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Xrn2	A	G	2: 146,883,930 (GRCm39)	Y563C	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGCCTTGCAAAGTCTTTTGGAC -3'
(R):5'- TAGAGACTGGCACTCTCACGTG -3'

Sequencing Primer
(F):5'- GGAAGTATCTCACCGCAA -3'
(R):5'- CACGTGCTCTATGCCTTGGG -3'

Posted On

2018-04-02