Mutagenetix > Incidental Mutation

Incidental Mutation 'R1145:Arhgef5'

102364

Institutional Source

Beutler Lab

Gene Symbol

Arhgef5

Ensembl Gene

ENSMUSG00000033542

Gene Name

Rho guanine nucleotide exchange factor (GEF) 5

Synonyms

2210412D05Rik

MMRRC Submission

039218-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1145 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43265582-43289320 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 43273088 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 258 (Q258K)

Ref Sequence

ENSEMBL: ENSMUSP00000031750 (fasta)

Gene Model

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

AlphaFold

E9Q7D5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031750
AA Change: Q258K

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: Q258K

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

probably benign
Transcript: ENSMUST00000182924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203387

Coding Region Coverage

1x: 99.3%
3x: 97.4%
10x: 88.4%
20x: 65.3%

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 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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,668,276 (GRCm38)	S1257P	possibly damaging	Het
Armc4	G	T	18: 7,268,436 (GRCm38)	P361Q	probably damaging	Het
C1s1	C	A	6: 124,540,800 (GRCm38)	D74Y	probably damaging	Het
Cpxm2	A	G	7: 132,057,648 (GRCm38)	S497P	probably damaging	Het
Ctsj	C	T	13: 61,002,543 (GRCm38)	S214N	probably damaging	Het
Dnali1	T	C	4: 125,065,547 (GRCm38)	S18G	possibly damaging	Het
Eif4g3	C	T	4: 138,165,818 (GRCm38)	T959M	probably damaging	Het
Eml6	A	G	11: 29,777,430 (GRCm38)	F1231L	probably benign	Het
Glp1r	T	C	17: 30,919,432 (GRCm38)	V160A	probably benign	Het
Gm10553	T	C	1: 85,100,449 (GRCm38)	S96P	probably benign	Het
Gm9726	C	T	12: 93,928,280 (GRCm38)		noncoding transcript	Het
Hmcn1	A	T	1: 150,679,607 (GRCm38)		probably null	Het
Ldb2	A	G	5: 44,532,674 (GRCm38)	L201P	probably damaging	Het
Otud6b	T	A	4: 14,812,532 (GRCm38)	T272S	probably benign	Het
Pnpla2	T	C	7: 141,455,416 (GRCm38)	Y44H	probably damaging	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Sel1l3	C	T	5: 53,131,827 (GRCm38)	R884H	probably damaging	Het
Slc43a2	T	A	11: 75,566,989 (GRCm38)	Y363*	probably null	Het
Taf2	GCTTCTTCTTCTTCTTCTT	GCTTCTTCTTCTTCTT	15: 55,016,461 (GRCm38)		probably benign	Het
Tap2	C	A	17: 34,215,940 (GRCm38)	D652E	possibly damaging	Het
Unc80	T	C	1: 66,472,088 (GRCm38)	V85A	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,359,988 (GRCm38)		probably benign	Het
Vwa3a	T	C	7: 120,793,343 (GRCm38)	Y802H	probably damaging	Het
Zc3h4	G	A	7: 16,416,913 (GRCm38)	R60Q	possibly 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
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
R4469:Arhgef5	UTSW	6	43,275,099 (GRCm38)	missense	probably benign
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

Posted On

2014-01-15