Mutagenetix > Incidental Mutation

Incidental Mutation 'R5249:Arhgef26'

398745

Institutional Source

Beutler Lab

Gene Symbol

Arhgef26

Ensembl Gene

ENSMUSG00000036885

Gene Name

Rho guanine nucleotide exchange factor 26

Synonyms

8430436L14Rik, 4631416L12Rik

MMRRC Submission

042820-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

R5249 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62245765-62369642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62247981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 355 (L355Q)

Ref Sequence

ENSEMBL: ENSMUSP00000078281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079300]

AlphaFold

D3YYY8

Predicted Effect

probably damaging
Transcript: ENSMUST00000079300
AA Change: L355Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078281
Gene: ENSMUSG00000036885
AA Change: L355Q

Domain	Start	End	E-Value	Type
low complexity region	133	144	N/A	INTRINSIC
low complexity region	392	403	N/A	INTRINSIC
RhoGEF	441	620	1e-45	SMART
PH	654	782	4.04e-9	SMART
SH3	790	847	3.82e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192267

Meta Mutation Damage Score

0.1757

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (93/95)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Rho-guanine nucleotide exchange factor (Rho-GEF) family. These proteins regulate Rho GTPases by catalyzing the exchange of GDP for GTP. The encoded protein specifically activates RhoG and plays a role in the promotion of macropinocytosis. Underexpression of the encoded protein may be a predictive marker of chemoresistant disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defective activation of RhoG and reduced membrane protrusion after ICAM-1 clustering. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	G	9: 99,502,284 (GRCm39)	H148R	probably damaging	Het
Acrbp	A	G	6: 125,037,885 (GRCm39)	D394G	probably damaging	Het
Adam18	T	C	8: 25,115,868 (GRCm39)	T609A	probably benign	Het
Adam25	T	A	8: 41,208,991 (GRCm39)	N752K	probably benign	Het
Ano6	A	C	15: 95,811,469 (GRCm39)	S176R	probably benign	Het
Ano7	T	C	1: 93,302,918 (GRCm39)	S19P	probably benign	Het
Ap1b1	A	G	11: 4,976,364 (GRCm39)	E437G	probably damaging	Het
Arfgap2	T	A	2: 91,095,982 (GRCm39)	C46*	probably null	Het
B4galnt4	C	T	7: 140,644,983 (GRCm39)	T219I	probably damaging	Het
Bap1	C	T	14: 30,979,243 (GRCm39)		probably benign	Het
Catip	T	G	1: 74,401,954 (GRCm39)	L43R	probably damaging	Het
Ccdc177	G	A	12: 80,805,282 (GRCm39)	R331C	unknown	Het
Cep85l	T	C	10: 53,195,690 (GRCm39)		probably null	Het
Cfap206	T	A	4: 34,714,502 (GRCm39)	Q398L	probably benign	Het
Clec18a	A	G	8: 111,800,368 (GRCm39)	C352R	probably damaging	Het
Clic6	A	T	16: 92,336,339 (GRCm39)	Y549F	probably damaging	Het
Cpne9	C	T	6: 113,270,034 (GRCm39)		probably benign	Het
Cyb5r3	A	C	15: 83,042,836 (GRCm39)		probably benign	Het
Dnah6	C	T	6: 73,090,471 (GRCm39)	R2293K	probably damaging	Het
Dnmbp	C	A	19: 43,890,879 (GRCm39)	R296L	probably damaging	Het
Dtwd1	C	A	2: 125,996,694 (GRCm39)	Q60K	probably benign	Het
Esyt1	C	A	10: 128,352,443 (GRCm39)	V723L	probably benign	Het
Fbxo42	T	C	4: 140,926,335 (GRCm39)	L339P	probably damaging	Het
Furin	A	T	7: 80,043,169 (GRCm39)	N347K	probably damaging	Het
Fzd7	T	C	1: 59,522,522 (GRCm39)	M135T	probably damaging	Het
Garin1b	A	G	6: 29,323,896 (GRCm39)	D207G	probably damaging	Het
Hlf	A	G	11: 90,278,632 (GRCm39)	M144T	probably benign	Het
Hyal5	C	T	6: 24,876,648 (GRCm39)	Q174*	probably null	Het
Kcnb1	T	A	2: 166,947,103 (GRCm39)	M582L	possibly damaging	Het
Kdm5d	T	C	Y: 916,692 (GRCm39)	Y391H	probably damaging	Het
Khdc4	T	A	3: 88,604,032 (GRCm39)	I283N	probably damaging	Het
Kif21b	C	T	1: 136,096,966 (GRCm39)	T1297M	probably damaging	Het
Krt8	T	G	15: 101,906,875 (GRCm39)	N317T	possibly damaging	Het
Lctl	G	T	9: 64,045,196 (GRCm39)	V372L	probably benign	Het
Lig1	C	T	7: 13,042,432 (GRCm39)	H822Y	possibly damaging	Het
Lrrc4b	A	G	7: 44,111,988 (GRCm39)	D620G	possibly damaging	Het
Mboat4	C	T	8: 34,582,275 (GRCm39)	H10Y	probably benign	Het
Med1	A	T	11: 98,048,066 (GRCm39)	M910K	probably benign	Het
Mia2	A	T	12: 59,154,911 (GRCm39)	D209V	probably damaging	Het
Mpp4	C	T	1: 59,184,017 (GRCm39)		probably benign	Het
Mrgprb1	A	T	7: 48,097,225 (GRCm39)	V229E	possibly damaging	Het
Mtor	T	A	4: 148,548,189 (GRCm39)	C485S	probably damaging	Het
Mx1	T	C	16: 97,258,628 (GRCm39)	D23G	probably damaging	Het
Myrfl	T	C	10: 116,619,138 (GRCm39)	D740G	probably benign	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nav2	G	A	7: 49,185,661 (GRCm39)	V874I	probably damaging	Het
Ntrk3	A	T	7: 78,110,914 (GRCm39)	N262K	possibly damaging	Het
Opa1	A	T	16: 29,437,077 (GRCm39)	D699V	probably damaging	Het
Or10u4	C	T	10: 129,802,078 (GRCm39)	A164T	probably benign	Het
Or8b51	A	G	9: 38,569,374 (GRCm39)	C105R	possibly damaging	Het
Otud7a	A	G	7: 63,407,181 (GRCm39)	N495D	possibly damaging	Het
Pcsk9	T	C	4: 106,320,950 (GRCm39)	D53G	probably benign	Het
Pdcd5	A	G	7: 35,346,421 (GRCm39)		probably benign	Het
Phf21a	C	T	2: 92,058,822 (GRCm39)	P28L	probably damaging	Het
Pitpnm1	T	A	19: 4,158,130 (GRCm39)	D573E	probably damaging	Het
Ppp1r35	C	T	5: 137,777,406 (GRCm39)		probably benign	Het
Ptprq	T	C	10: 107,535,496 (GRCm39)	Q423R	probably damaging	Het
Pum1	A	T	4: 130,490,125 (GRCm39)	Y699F	probably benign	Het
Rabgef1	A	G	5: 130,241,841 (GRCm39)	D415G	probably benign	Het
Rapgef6	A	G	11: 54,413,943 (GRCm39)	E23G	probably benign	Het
Rpia	G	T	6: 70,760,563 (GRCm39)	C121*	probably null	Het
Sanbr	A	G	11: 23,525,483 (GRCm39)	*719Q	probably null	Het
Serpinb13	T	A	1: 106,926,427 (GRCm39)	W201R	probably damaging	Het
Sh3bp4	T	C	1: 89,065,456 (GRCm39)	C17R	probably damaging	Het
Sh3d21	A	G	4: 126,055,858 (GRCm39)		probably benign	Het
Slamf6	A	C	1: 171,764,249 (GRCm39)	N214T	probably damaging	Het
Slc7a2	T	C	8: 41,361,130 (GRCm39)	Y365H	possibly damaging	Het
Sox18	T	C	2: 181,312,971 (GRCm39)		probably null	Het
Spink7	A	T	18: 62,725,507 (GRCm39)	F79I	possibly damaging	Het
Srpk3	C	T	X: 72,818,555 (GRCm39)	R82*	probably null	Het
Sspo	A	T	6: 48,470,244 (GRCm39)	H4561L	probably damaging	Het
Tcaf1	T	C	6: 42,653,793 (GRCm39)	K700R	probably benign	Het
Tcf25	G	T	8: 124,115,372 (GRCm39)	R203L	probably damaging	Het
Tcp11	T	C	17: 28,290,757 (GRCm39)	I201V	possibly damaging	Het
Tex2	T	C	11: 106,437,615 (GRCm39)	D685G	unknown	Het
Themis	G	T	10: 28,637,195 (GRCm39)	E100*	probably null	Het
Tmem52b	G	A	6: 129,491,221 (GRCm39)		probably null	Het
Tnr	C	T	1: 159,512,226 (GRCm39)		probably benign	Het
Tox3	T	C	8: 90,975,444 (GRCm39)	I396V	probably benign	Het
Tpm2	T	A	4: 43,514,828 (GRCm39)	E269V	probably benign	Het
Tulp1	C	T	17: 28,581,651 (GRCm39)		probably benign	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Ube2j2	A	C	4: 156,033,515 (GRCm39)	K30Q	possibly damaging	Het
Usp19	T	A	9: 108,369,807 (GRCm39)	M1K	probably null	Het
Vmn2r52	C	A	7: 9,910,197 (GRCm39)	R6L	probably benign	Het
Zbed4	G	A	15: 88,665,290 (GRCm39)	V453M	probably benign	Het
Zfp319	T	C	8: 96,055,099 (GRCm39)	E368G	probably benign	Het
Zfp366	A	C	13: 99,366,117 (GRCm39)	E426A	probably damaging	Het
Zfp687	A	T	3: 94,916,777 (GRCm39)	I783N	probably damaging	Het

Other mutations in Arhgef26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Arhgef26	APN	3	62,247,804 (GRCm39)	missense	probably benign
IGL01060:Arhgef26	APN	3	62,247,542 (GRCm39)	missense	probably benign	0.44
IGL01942:Arhgef26	APN	3	62,247,515 (GRCm39)	missense	probably benign	0.03
IGL02085:Arhgef26	APN	3	62,367,145 (GRCm39)	intron	probably benign
IGL02172:Arhgef26	APN	3	62,367,097 (GRCm39)	missense	probably benign	0.03
IGL03017:Arhgef26	APN	3	62,355,702 (GRCm39)	missense	possibly damaging	0.46
IGL03101:Arhgef26	APN	3	62,327,082 (GRCm39)	missense	possibly damaging	0.95
IGL03296:Arhgef26	APN	3	62,330,926 (GRCm39)	missense	probably damaging	1.00
IGL03401:Arhgef26	APN	3	62,330,953 (GRCm39)	missense	possibly damaging	0.95
R0138:Arhgef26	UTSW	3	62,355,680 (GRCm39)	missense	probably benign	0.06
R0140:Arhgef26	UTSW	3	62,355,666 (GRCm39)	missense	probably benign	0.02
R0152:Arhgef26	UTSW	3	62,330,965 (GRCm39)	missense	probably damaging	0.99
R0157:Arhgef26	UTSW	3	62,288,392 (GRCm39)	missense	probably damaging	1.00
R0308:Arhgef26	UTSW	3	62,247,820 (GRCm39)	missense	probably benign	0.01
R0317:Arhgef26	UTSW	3	62,330,965 (GRCm39)	missense	probably damaging	0.99
R0529:Arhgef26	UTSW	3	62,247,146 (GRCm39)	missense	probably benign
R0825:Arhgef26	UTSW	3	62,334,014 (GRCm39)	missense	probably damaging	0.97
R1331:Arhgef26	UTSW	3	62,247,449 (GRCm39)	missense	probably benign	0.00
R1333:Arhgef26	UTSW	3	62,247,744 (GRCm39)	missense	probably benign	0.04
R1351:Arhgef26	UTSW	3	62,288,262 (GRCm39)	missense	probably damaging	1.00
R1740:Arhgef26	UTSW	3	62,331,004 (GRCm39)	missense	probably damaging	1.00
R2121:Arhgef26	UTSW	3	62,247,704 (GRCm39)	missense	probably damaging	0.96
R2404:Arhgef26	UTSW	3	62,336,336 (GRCm39)	missense	possibly damaging	0.90
R2437:Arhgef26	UTSW	3	62,340,002 (GRCm39)	missense	probably damaging	0.96
R2939:Arhgef26	UTSW	3	62,288,331 (GRCm39)	missense	possibly damaging	0.72
R3084:Arhgef26	UTSW	3	62,285,037 (GRCm39)	missense	probably benign	0.19
R3712:Arhgef26	UTSW	3	62,331,050 (GRCm39)	missense	probably damaging	1.00
R4005:Arhgef26	UTSW	3	62,247,816 (GRCm39)	missense	probably benign
R4225:Arhgef26	UTSW	3	62,288,343 (GRCm39)	missense	probably benign	0.00
R4635:Arhgef26	UTSW	3	62,247,861 (GRCm39)	missense	probably damaging	1.00
R4961:Arhgef26	UTSW	3	62,367,046 (GRCm39)	missense	probably damaging	1.00
R4989:Arhgef26	UTSW	3	62,247,806 (GRCm39)	missense	possibly damaging	0.94
R5284:Arhgef26	UTSW	3	62,327,052 (GRCm39)	missense	probably damaging	0.99
R5661:Arhgef26	UTSW	3	62,285,075 (GRCm39)	splice site	probably benign
R5970:Arhgef26	UTSW	3	62,247,468 (GRCm39)	missense	probably benign
R6022:Arhgef26	UTSW	3	62,336,360 (GRCm39)	missense	probably damaging	1.00
R6193:Arhgef26	UTSW	3	62,247,213 (GRCm39)	missense	possibly damaging	0.49
R6247:Arhgef26	UTSW	3	62,288,381 (GRCm39)	missense	probably damaging	1.00
R6434:Arhgef26	UTSW	3	62,336,335 (GRCm39)	missense	probably damaging	0.99
R6827:Arhgef26	UTSW	3	62,330,919 (GRCm39)	splice site	probably null
R7111:Arhgef26	UTSW	3	62,252,689 (GRCm39)	missense	possibly damaging	0.90
R7128:Arhgef26	UTSW	3	62,326,971 (GRCm39)	missense	possibly damaging	0.94
R7360:Arhgef26	UTSW	3	62,355,626 (GRCm39)	missense	possibly damaging	0.63
R7456:Arhgef26	UTSW	3	62,247,476 (GRCm39)	missense	probably benign	0.00
R8039:Arhgef26	UTSW	3	62,247,351 (GRCm39)	missense	probably benign	0.32
R8120:Arhgef26	UTSW	3	62,248,796 (GRCm39)	missense	probably damaging	1.00
R8511:Arhgef26	UTSW	3	62,336,350 (GRCm39)	missense	probably damaging	0.98
R8887:Arhgef26	UTSW	3	62,247,401 (GRCm39)	missense	probably benign	0.04
R8979:Arhgef26	UTSW	3	62,246,969 (GRCm39)	missense	possibly damaging	0.78
R8993:Arhgef26	UTSW	3	62,355,525 (GRCm39)	missense	probably benign	0.43
R9213:Arhgef26	UTSW	3	62,340,000 (GRCm39)	missense	probably benign	0.03
R9269:Arhgef26	UTSW	3	62,247,920 (GRCm39)	missense	probably damaging	0.98
R9712:Arhgef26	UTSW	3	62,331,034 (GRCm39)	missense	probably damaging	1.00
R9776:Arhgef26	UTSW	3	62,246,803 (GRCm39)	start gained	probably benign
Z1177:Arhgef26	UTSW	3	62,247,351 (GRCm39)	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- GACAACGACATGGACAGTCC -3'
(R):5'- CCCTCACACAAGTTCTAAGCTATTAG -3'

Sequencing Primer
(F):5'- ACATGGACAGTCCCGGCTC -3'
(R):5'- GCAATGCACTGTTCCATG -3'

Posted On

2016-07-06