Mutagenetix > Incidental Mutation

Incidental Mutation 'R4469:Arhgef5'

329315

Institutional Source

Beutler Lab

Gene Symbol

Arhgef5

Ensembl Gene

ENSMUSG00000033542

Gene Name

Rho guanine nucleotide exchange factor (GEF) 5

Synonyms

2210412D05Rik

MMRRC Submission

041726-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4469 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43265582-43289320 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43275099 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 928 (I928T)

Ref Sequence

ENSEMBL: ENSMUSP00000031750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031750]

AlphaFold

E9Q7D5

Predicted Effect

probably benign
Transcript: ENSMUST00000031750
AA Change: I928T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: I928T

Domain	Start	End	E-Value	Type
Pfam:ARHGEF5_35	1	477	3.1e-220	PFAM
low complexity region	509	531	N/A	INTRINSIC
low complexity region	812	825	N/A	INTRINSIC
low complexity region	827	851	N/A	INTRINSIC
RhoGEF	1162	1341	2.97e-57	SMART
PH	1375	1488	1.11e-6	SMART
SH3	1497	1554	6.39e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182190

Predicted Effect

unknown
Transcript: ENSMUST00000182924
AA Change: I196T

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203387

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (52/52)

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 initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased Th2 response in an ovalbumin-induced asthma model. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	A	G	13: 58,382,425 (GRCm38)	L257P	probably damaging	Het
4833420G17Rik	A	G	13: 119,469,809 (GRCm38)	K196E	probably damaging	Het
Ackr1	T	C	1: 173,332,545 (GRCm38)		probably null	Het
Adgra1	C	T	7: 139,876,061 (GRCm38)	T535I	probably damaging	Het
Ankrd11	A	G	8: 122,896,587 (GRCm38)	Y310H	probably damaging	Het
Arsi	G	A	18: 60,916,651 (GRCm38)	G202E	probably benign	Het
Asb4	C	A	6: 5,423,409 (GRCm38)	F185L	probably benign	Het
Ces2g	A	T	8: 104,965,970 (GRCm38)	I301F	probably benign	Het
Chd1	T	C	17: 15,760,395 (GRCm38)	I1308T	probably damaging	Het
Cntnap4	A	T	8: 112,665,266 (GRCm38)	N121I	probably damaging	Het
Csf1	C	T	3: 107,750,681 (GRCm38)		probably null	Het
Dnah7a	T	A	1: 53,444,526 (GRCm38)	H3364L	probably benign	Het
Dnmt3c	A	G	2: 153,720,360 (GRCm38)	T555A	possibly damaging	Het
Dst	A	G	1: 34,191,842 (GRCm38)	T3017A	probably benign	Het
Efcab7	A	G	4: 99,909,704 (GRCm38)	D482G	possibly damaging	Het
Fbxl5	A	G	5: 43,768,186 (GRCm38)	V154A	probably damaging	Het
Flt3	T	C	5: 147,375,644 (GRCm38)		silent	Het
G6pd2	A	T	5: 61,808,945 (GRCm38)	Y21F	probably benign	Het
Gm9376	C	T	14: 118,267,599 (GRCm38)	P148S	probably damaging	Het
Gpsm1	G	A	2: 26,319,831 (GRCm38)		probably benign	Het
Gtpbp2	A	G	17: 46,161,313 (GRCm38)	Y58C	probably damaging	Het
Hcrtr2	T	A	9: 76,230,556 (GRCm38)	T426S	probably benign	Het
Herc3	T	A	6: 58,876,809 (GRCm38)	Y613*	probably null	Het
Hsd17b1	A	T	11: 101,080,012 (GRCm38)	M265L	probably benign	Het
Ier3ip1	A	G	18: 76,940,598 (GRCm38)		probably benign	Het
Kif11	A	G	19: 37,416,492 (GRCm38)	M924V	probably benign	Het
Kirrel	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Lancl2	T	A	6: 57,713,034 (GRCm38)	L75H	probably damaging	Het
Mfsd4b1	T	C	10: 40,012,095 (GRCm38)		probably benign	Het
Nlrc5	A	T	8: 94,520,839 (GRCm38)	I1588F	probably damaging	Het
Nostrin	C	G	2: 69,175,717 (GRCm38)	I248M	probably damaging	Het
Olfr104-ps	A	G	17: 37,362,637 (GRCm38)	I170M	possibly damaging	Het
Olfr125	T	C	17: 37,835,716 (GRCm38)	L239P	probably benign	Het
Rabggta	A	G	14: 55,716,487 (GRCm38)	V266A	probably benign	Het
Ror2	G	A	13: 53,131,980 (GRCm38)	T66M	possibly damaging	Het
Rps6-ps2	A	G	8: 88,806,691 (GRCm38)		noncoding transcript	Het
Skp1a	C	T	11: 52,245,078 (GRCm38)	T138I	probably benign	Het
Smad9	T	C	3: 54,782,761 (GRCm38)	V134A	probably damaging	Het
Snx29	T	A	16: 11,420,701 (GRCm38)		probably null	Het
Sos1	A	G	17: 80,453,811 (GRCm38)	I152T	probably damaging	Het
Ssbp2	G	A	13: 91,694,056 (GRCm38)	G302D	probably damaging	Het
Stom	T	C	2: 35,321,533 (GRCm38)	N159D	possibly damaging	Het
Trav16d-dv11	A	G	14: 53,047,578 (GRCm38)	K37R	probably benign	Het
Trim75	A	G	8: 64,983,717 (GRCm38)	V27A	probably damaging	Het
Ttn	T	C	2: 76,717,761 (GRCm38)	T32066A	probably damaging	Het
Txndc11	T	C	16: 11,075,223 (GRCm38)	H881R	probably benign	Het
Ubp1	C	T	9: 113,958,707 (GRCm38)	T222I	probably benign	Het
Unc5cl	C	G	17: 48,459,805 (GRCm38)	P69R	possibly damaging	Het
Zfp616	T	A	11: 74,071,124 (GRCm38)	C24S	probably damaging	Het

Other mutations in Arhgef5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Arhgef5	APN	6	43,280,269 (GRCm38)	nonsense	probably null
IGL01341:Arhgef5	APN	6	43,283,991 (GRCm38)	missense	probably damaging	1.00
IGL01576:Arhgef5	APN	6	43,274,028 (GRCm38)	missense	probably benign	0.38
IGL01761:Arhgef5	APN	6	43,274,604 (GRCm38)	missense	probably benign	0.00
IGL02104:Arhgef5	APN	6	43,272,411 (GRCm38)	missense	probably damaging	0.99
IGL02208:Arhgef5	APN	6	43,275,130 (GRCm38)	missense	probably benign	0.11
IGL02487:Arhgef5	APN	6	43,283,982 (GRCm38)	missense	probably damaging	1.00
IGL02650:Arhgef5	APN	6	43,272,935 (GRCm38)	nonsense	probably null
IGL03292:Arhgef5	APN	6	43,280,246 (GRCm38)	missense	probably damaging	1.00
IGL03334:Arhgef5	APN	6	43,274,000 (GRCm38)	missense	possibly damaging	0.47
IGL03341:Arhgef5	APN	6	43,280,651 (GRCm38)	missense	probably damaging	0.99
R0047:Arhgef5	UTSW	6	43,265,621 (GRCm38)	splice site	probably null
R0206:Arhgef5	UTSW	6	43,273,341 (GRCm38)	missense	probably damaging	1.00
R0208:Arhgef5	UTSW	6	43,273,341 (GRCm38)	missense	probably damaging	1.00
R0698:Arhgef5	UTSW	6	43,273,341 (GRCm38)	missense	probably damaging	1.00
R1145:Arhgef5	UTSW	6	43,273,088 (GRCm38)	missense	possibly damaging	0.92
R1145:Arhgef5	UTSW	6	43,273,088 (GRCm38)	missense	possibly damaging	0.92
R1168:Arhgef5	UTSW	6	43,273,396 (GRCm38)	missense	probably benign	0.00
R1355:Arhgef5	UTSW	6	43,283,912 (GRCm38)	missense	probably damaging	1.00
R1370:Arhgef5	UTSW	6	43,283,912 (GRCm38)	missense	probably damaging	1.00
R1481:Arhgef5	UTSW	6	43,274,634 (GRCm38)	missense	probably damaging	0.99
R1529:Arhgef5	UTSW	6	43,279,515 (GRCm38)	missense	probably damaging	0.96
R1532:Arhgef5	UTSW	6	43,273,403 (GRCm38)	missense	probably benign
R1663:Arhgef5	UTSW	6	43,276,965 (GRCm38)	missense	probably damaging	1.00
R1742:Arhgef5	UTSW	6	43,280,199 (GRCm38)	missense	probably damaging	1.00
R1852:Arhgef5	UTSW	6	43,275,185 (GRCm38)	missense	probably benign	0.00
R1869:Arhgef5	UTSW	6	43,288,682 (GRCm38)	missense	probably damaging	1.00
R1880:Arhgef5	UTSW	6	43,273,088 (GRCm38)	missense	possibly damaging	0.92
R2146:Arhgef5	UTSW	6	43,283,318 (GRCm38)	missense	probably damaging	1.00
R2169:Arhgef5	UTSW	6	43,274,420 (GRCm38)	missense	probably benign	0.11
R3412:Arhgef5	UTSW	6	43,273,790 (GRCm38)	missense	probably benign
R4205:Arhgef5	UTSW	6	43,273,832 (GRCm38)	missense	possibly damaging	0.76
R4226:Arhgef5	UTSW	6	43,279,498 (GRCm38)	missense	probably damaging	1.00
R4227:Arhgef5	UTSW	6	43,279,498 (GRCm38)	missense	probably damaging	1.00
R4304:Arhgef5	UTSW	6	43,279,498 (GRCm38)	missense	probably damaging	1.00
R4308:Arhgef5	UTSW	6	43,279,498 (GRCm38)	missense	probably damaging	1.00
R4457:Arhgef5	UTSW	6	43,274,093 (GRCm38)	missense	probably damaging	1.00
R4636:Arhgef5	UTSW	6	43,274,942 (GRCm38)	missense	probably benign	0.11
R4791:Arhgef5	UTSW	6	43,283,183 (GRCm38)	missense	probably damaging	1.00
R4818:Arhgef5	UTSW	6	43,273,550 (GRCm38)	missense	probably benign	0.00
R4910:Arhgef5	UTSW	6	43,272,828 (GRCm38)	missense	probably benign	0.01
R4911:Arhgef5	UTSW	6	43,272,828 (GRCm38)	missense	probably benign	0.01
R5127:Arhgef5	UTSW	6	43,273,214 (GRCm38)	missense	probably damaging	0.99
R5209:Arhgef5	UTSW	6	43,273,700 (GRCm38)	missense	probably benign	0.01
R5245:Arhgef5	UTSW	6	43,265,680 (GRCm38)	start gained	probably benign
R5251:Arhgef5	UTSW	6	43,272,881 (GRCm38)	missense	possibly damaging	0.76
R5513:Arhgef5	UTSW	6	43,272,339 (GRCm38)	missense	probably damaging	0.96
R5613:Arhgef5	UTSW	6	43,274,063 (GRCm38)	missense	probably benign	0.01
R5616:Arhgef5	UTSW	6	43,275,940 (GRCm38)	missense	probably benign	0.20
R5817:Arhgef5	UTSW	6	43,275,104 (GRCm38)	missense	probably benign	0.15
R6024:Arhgef5	UTSW	6	43,275,134 (GRCm38)	missense	probably benign	0.00
R6735:Arhgef5	UTSW	6	43,275,032 (GRCm38)	missense	probably benign	0.01
R6825:Arhgef5	UTSW	6	43,274,961 (GRCm38)	missense	probably damaging	0.99
R6831:Arhgef5	UTSW	6	43,280,999 (GRCm38)	missense	probably damaging	1.00
R6901:Arhgef5	UTSW	6	43,273,298 (GRCm38)	missense	probably benign	0.00
R6932:Arhgef5	UTSW	6	43,274,417 (GRCm38)	missense	possibly damaging	0.94
R6968:Arhgef5	UTSW	6	43,275,342 (GRCm38)	missense	probably benign	0.00
R7018:Arhgef5	UTSW	6	43,288,731 (GRCm38)	missense	probably damaging	1.00
R7180:Arhgef5	UTSW	6	43,275,208 (GRCm38)	missense	possibly damaging	0.87
R7201:Arhgef5	UTSW	6	43,273,232 (GRCm38)	nonsense	probably null
R7358:Arhgef5	UTSW	6	43,279,573 (GRCm38)	missense	probably damaging	1.00
R7359:Arhgef5	UTSW	6	43,280,282 (GRCm38)	missense	probably damaging	1.00
R7468:Arhgef5	UTSW	6	43,280,671 (GRCm38)	nonsense	probably null
R7503:Arhgef5	UTSW	6	43,273,999 (GRCm38)	missense	probably benign	0.15
R7699:Arhgef5	UTSW	6	43,274,757 (GRCm38)	missense	probably benign	0.11
R7700:Arhgef5	UTSW	6	43,274,757 (GRCm38)	missense	probably benign	0.11
R7737:Arhgef5	UTSW	6	43,273,794 (GRCm38)	missense	possibly damaging	0.84
R7847:Arhgef5	UTSW	6	43,275,135 (GRCm38)	nonsense	probably null
R7950:Arhgef5	UTSW	6	43,273,925 (GRCm38)	missense	possibly damaging	0.76
R8161:Arhgef5	UTSW	6	43,283,951 (GRCm38)	missense	probably damaging	1.00
R8178:Arhgef5	UTSW	6	43,275,185 (GRCm38)	missense	probably benign	0.00
R8203:Arhgef5	UTSW	6	43,280,645 (GRCm38)	missense	probably damaging	1.00
R8318:Arhgef5	UTSW	6	43,275,999 (GRCm38)	critical splice donor site	probably null
R8857:Arhgef5	UTSW	6	43,287,624 (GRCm38)	missense	probably damaging	1.00
R9499:Arhgef5	UTSW	6	43,284,006 (GRCm38)	missense
R9610:Arhgef5	UTSW	6	43,280,956 (GRCm38)	missense	probably damaging	0.99
R9611:Arhgef5	UTSW	6	43,280,956 (GRCm38)	missense	probably damaging	0.99
R9623:Arhgef5	UTSW	6	43,274,802 (GRCm38)	missense	possibly damaging	0.86
R9685:Arhgef5	UTSW	6	43,273,593 (GRCm38)	missense	probably benign	0.11
RF023:Arhgef5	UTSW	6	43,279,473 (GRCm38)	missense	probably damaging	1.00
X0028:Arhgef5	UTSW	6	43,273,701 (GRCm38)	missense	probably benign	0.03
X0065:Arhgef5	UTSW	6	43,272,408 (GRCm38)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TATACATTCAGGAGGTCAAGCC -3'
(R):5'- TGGATGCCTTCTCCAGTTGG -3'

Sequencing Primer
(F):5'- TTCAGGAGGTCAAGCCAAGCC -3'
(R):5'- CCAGTTGGTGGTGGAGGG -3'

Posted On

2015-07-21