Mutagenetix > Incidental Mutation

Incidental Mutation 'R9269:Arhgef26'

702730

Institutional Source

Beutler Lab

Gene Symbol

Arhgef26

Ensembl Gene

ENSMUSG00000036885

Gene Name

Rho guanine nucleotide exchange factor 26

Synonyms

8430436L14Rik, 4631416L12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

R9269 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62245765-62369642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62247920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 335 (N335D)

Ref Sequence

ENSEMBL: ENSMUSP00000078281 (fasta)

Gene Model

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

AlphaFold

D3YYY8

Predicted Effect

probably damaging
Transcript: ENSMUST00000079300
AA Change: N335D

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078281
Gene: ENSMUSG00000036885
AA Change: N335D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,637,865 (GRCm39)	S845P	probably benign	Het
Actn1	T	A	12: 80,219,745 (GRCm39)	N709Y	probably benign	Het
Alox5ap	A	G	5: 149,216,006 (GRCm39)	Y64C	probably damaging	Het
Anapc4	T	A	5: 53,018,620 (GRCm39)	S521T	possibly damaging	Het
Ap3b1	C	A	13: 94,540,570 (GRCm39)	P164Q	probably damaging	Het
Arrdc2	G	A	8: 71,288,973 (GRCm39)	A354V	probably benign	Het
Atg2b	A	G	12: 105,618,359 (GRCm39)	S898P	probably damaging	Het
Atxn1	T	A	13: 45,710,680 (GRCm39)	T751S	probably benign	Het
Begain	T	A	12: 108,999,119 (GRCm39)	R551W	possibly damaging	Het
Borcs8	C	A	8: 70,594,521 (GRCm39)	D15E	probably benign	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Card11	A	T	5: 140,892,516 (GRCm39)	M183K	probably damaging	Het
Cldn3	T	C	5: 135,015,579 (GRCm39)	L94P	probably damaging	Het
Clvs2	A	T	10: 33,419,422 (GRCm39)	Y211N	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cop1	C	T	1: 159,116,553 (GRCm39)	P409L	probably benign	Het
Cplane1	A	C	15: 8,248,500 (GRCm39)	Q1683P	probably damaging	Het
Crhbp	C	A	13: 95,573,024 (GRCm39)	A241S	probably benign	Het
Cyfip1	C	A	7: 55,557,179 (GRCm39)	S794*	probably null	Het
Dlg5	T	A	14: 24,242,881 (GRCm39)	H172L	probably damaging	Het
Doc2a	T	A	7: 126,450,159 (GRCm39)	I199N	probably benign	Het
Dock3	T	C	9: 106,818,522 (GRCm39)	T1191A	probably benign	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Eif4a3l2	C	T	6: 116,529,317 (GRCm39)	T398I	probably damaging	Het
Fcgr1	C	T	3: 96,193,154 (GRCm39)	R281H	probably benign	Het
Fndc10	T	C	4: 155,779,205 (GRCm39)	V83A	possibly damaging	Het
Galnt2	T	A	8: 125,065,202 (GRCm39)	I444K	probably benign	Het
Gcnt3	T	C	9: 69,941,290 (GRCm39)	Y426C	probably damaging	Het
Gtpbp1	C	T	15: 79,601,855 (GRCm39)	R533C	probably damaging	Het
Hid1	T	C	11: 115,252,502 (GRCm39)	E60G	probably damaging	Het
Ighv1-81	A	T	12: 115,884,161 (GRCm39)	L30Q	possibly damaging	Het
Ighv5-8	TATATATATATATATATATATA	TATATATATATATATATATATATA	12: 113,618,565 (GRCm39)		probably null	Het
Ilrun	A	C	17: 28,005,049 (GRCm39)	Y169*	probably null	Het
Klf10	A	G	15: 38,298,002 (GRCm39)	L44P	probably damaging	Het
Lamc3	T	C	2: 31,813,017 (GRCm39)	V1001A	probably benign	Het
Lamc3	C	A	2: 31,818,908 (GRCm39)	S1211*	probably null	Het
Lmx1a	T	A	1: 167,658,194 (GRCm39)	H192Q	probably benign	Het
Nkx2-4	T	C	2: 146,926,184 (GRCm39)	H226R	possibly damaging	Het
Or2d2	T	C	7: 106,727,833 (GRCm39)	I256V	probably benign	Het
Or4a68	T	A	2: 89,270,276 (GRCm39)	M116L	probably damaging	Het
Or4k37	T	C	2: 111,159,297 (GRCm39)	F178L	probably damaging	Het
Or4p18	G	A	2: 88,232,586 (GRCm39)	R231C	probably benign	Het
Or5b101	T	C	19: 13,004,994 (GRCm39)	H233R	probably benign	Het
Or5b114-ps1	A	T	19: 13,353,004 (GRCm39)	N226I	unknown	Het
Or5p52	T	A	7: 107,502,527 (GRCm39)	I201N	possibly damaging	Het
Or7e175	T	C	9: 20,048,757 (GRCm39)	M115T	probably damaging	Het
Or8k1	T	C	2: 86,047,247 (GRCm39)	H269R	probably damaging	Het
Orai3	G	T	7: 127,373,194 (GRCm39)	A232S	probably benign	Het
Pak1ip1	G	A	13: 41,162,727 (GRCm39)	G177R	probably benign	Het
Pcp4l1	T	C	1: 171,001,975 (GRCm39)	R62G	possibly damaging	Het
Phox2b	T	A	5: 67,256,064 (GRCm39)	Q74L	probably benign	Het
Pi4kb	A	G	3: 94,891,797 (GRCm39)	Y159C	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plxna1	T	C	6: 89,306,541 (GRCm39)	R1430G	probably null	Het
Plxna4	T	C	6: 32,155,315 (GRCm39)	H1543R	probably benign	Het
Prcc	A	T	3: 87,777,038 (GRCm39)	F312Y	probably damaging	Het
Ranbp6	A	G	19: 29,787,388 (GRCm39)	L988P	probably damaging	Het
Rbm27	A	G	18: 42,460,572 (GRCm39)	T840A	probably benign	Het
Rchy1	G	T	5: 92,105,831 (GRCm39)	T39N	probably benign	Het
Rmi1	C	T	13: 58,556,840 (GRCm39)	T363I	probably benign	Het
Rnpc3	A	C	3: 113,404,895 (GRCm39)	I420S	probably damaging	Het
Rsph4a	T	A	10: 33,785,394 (GRCm39)	V435E	probably benign	Het
Rwdd1	T	C	10: 33,888,095 (GRCm39)	T38A	probably damaging	Het
S100a13	G	T	3: 90,423,170 (GRCm39)	D54Y	unknown	Het
Sel1l3	T	C	5: 53,311,628 (GRCm39)	Y619C	probably damaging	Het
Sf3b3	T	C	8: 111,538,658 (GRCm39)	T1121A	probably damaging	Het
Sgk3	T	C	1: 9,942,534 (GRCm39)	V102A	probably benign	Het
Sh2b1	T	C	7: 126,068,354 (GRCm39)	T486A	probably damaging	Het
Slc22a5	C	T	11: 53,766,981 (GRCm39)	R169H	probably damaging	Het
Slc4a5	T	C	6: 83,266,223 (GRCm39)	V889A	possibly damaging	Het
Spast	C	A	17: 74,646,069 (GRCm39)	S13*	probably null	Het
Srek1	T	C	13: 103,889,654 (GRCm39)		probably null	Het
Sugp1	G	T	8: 70,509,220 (GRCm39)	E164D	probably benign	Het
Synpo2	T	C	3: 122,910,973 (GRCm39)	D224G	probably benign	Het
Tanc1	A	G	2: 59,630,432 (GRCm39)	D804G	probably damaging	Het
Tep1	C	T	14: 51,081,766 (GRCm39)	C1228Y	probably damaging	Het
Tes	T	A	6: 17,100,341 (GRCm39)	C325S	probably benign	Het
Themis	T	C	10: 28,739,390 (GRCm39)	V620A	probably benign	Het
Trim17	T	C	11: 58,862,257 (GRCm39)	S430P	probably damaging	Het
Tubgcp5	T	C	7: 55,445,693 (GRCm39)	I65T	possibly damaging	Het
Unc13b	T	C	4: 43,171,955 (GRCm39)	S928P	unknown	Het
Vat1l	C	T	8: 115,016,172 (GRCm39)	A354V	probably damaging	Het
Vmn1r170	T	A	7: 23,306,263 (GRCm39)	S222T	probably benign	Het
Vmn2r112	A	T	17: 22,820,213 (GRCm39)	M29L	probably benign	Het
Vmn2r72	T	C	7: 85,400,411 (GRCm39)	I213V	probably benign	Het
Wdr89	T	A	12: 75,679,564 (GRCm39)	Q230L	possibly damaging	Het
Zfp386	A	G	12: 116,023,283 (GRCm39)	T334A	probably benign	Het
Zfp442	T	A	2: 150,251,287 (GRCm39)	H205L	probably benign	Het
Zfyve26	A	T	12: 79,323,076 (GRCm39)	I890N	possibly damaging	Het
Zic1	T	C	9: 91,246,373 (GRCm39)	E233G	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
R5249:Arhgef26	UTSW	3	62,247,981 (GRCm39)	missense	probably damaging	1.00
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
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'- CCCATAGGAGGCTTCTCAAG -3'
(R):5'- ATAGAAAGCAATGCACTGTTCCATG -3'

Sequencing Primer
(F):5'- ATAGGAGGCTTCTCAAGGTGCG -3'
(R):5'- GCAATGCACTGTTCCATGATTTG -3'

Posted On

2022-03-25