Mutagenetix > Incidental Mutation

Incidental Mutation 'R9712:Arhgef26'

730232

Institutional Source

Beutler Lab

Gene Symbol

Arhgef26

Ensembl Gene

ENSMUSG00000036885

Gene Name

Rho guanine nucleotide exchange factor (GEF) 26

Synonyms

4631416L12Rik, 8430436L14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R9712 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62338344-62462221 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 62423613 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 583 (L583F)

Ref Sequence

ENSEMBL: ENSMUSP00000078281 (fasta)

Gene Model

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

AlphaFold

D3YYY8

Predicted Effect

probably damaging
Transcript: ENSMUST00000079300
AA Change: L583F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078281
Gene: ENSMUSG00000036885
AA Change: L583F

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

SMART Domains

Protein: ENSMUSP00000124392
Gene: ENSMUSG00000036885
AA Change: L49F

Domain	Start	End	E-Value	Type
Pfam:RhoGEF	2	87	2.3e-19	PFAM
PH	121	249	4.04e-9	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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	T	19: 3,715,784	M20L	probably benign	Het
9430007A20Rik	C	T	4: 144,528,784	A258V	probably benign	Het
Abca8b	T	A	11: 109,942,337	D1241V	probably benign	Het
Adam20	G	A	8: 40,795,453	R200H	probably benign	Het
Adcy10	T	C	1: 165,513,112	F229L	probably damaging	Het
Adsl	A	T	15: 80,955,639	N126I	probably benign	Het
Ahnak	AGATCTC	A	19: 9,007,028		probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 9,007,029		probably benign	Het
Aktip	G	A	8: 91,129,727	P41S	probably damaging	Het
Alkbh3	C	A	2: 93,980,973	R258L	probably damaging	Het
Arfgap3	A	G	15: 83,313,533	Y341H	probably benign	Het
Arhgef40	T	C	14: 51,988,958	I153T	probably damaging	Het
Atp1a1	T	C	3: 101,591,441	S179G	probably benign	Het
Bok	T	C	1: 93,686,507	S21P	probably damaging	Het
C130060K24Rik	A	G	6: 65,456,140	I315V	probably benign	Het
Ccdc136	A	G	6: 29,417,442	E754G	probably benign	Het
Cers3	A	G	7: 66,773,630	K108E	probably benign	Het
Cmya5	T	C	13: 93,065,373		probably null	Het
Col19a1	T	C	1: 24,328,067	E478G	possibly damaging	Het
Colec10	T	A	15: 54,459,784	S134R	possibly damaging	Het
Ctnnb1	A	T	9: 120,955,829	I514F	probably damaging	Het
Cux1	C	T	5: 136,309,819	E664K	probably benign	Het
Dars	T	C	1: 128,405,462	Q75R	probably benign	Het
Disp1	T	A	1: 183,135,815	S16C	probably damaging	Het
Dnah7a	A	T	1: 53,559,140	V1412E	probably benign	Het
Ect2l	C	T	10: 18,168,434	V226I	probably benign	Het
Ep400	T	A	5: 110,756,643	H30L	unknown	Het
Ephx4	A	G	5: 107,419,781	I202V	probably benign	Het
Exoc3	A	T	13: 74,192,908	F259Y	probably damaging	Het
Ezr	T	C	17: 6,752,995	E229G	probably damaging	Het
Fat1	A	T	8: 45,017,380	I1472L	probably benign	Het
Fsd1l	T	G	4: 53,679,972	D223E	probably benign	Het
Gata6	A	T	18: 11,059,064	D377V	possibly damaging	Het
Gm12185	A	T	11: 48,907,389	M759K	probably benign	Het
Gm21994	C	T	2: 150,254,576	R311Q	probably benign	Het
Gm9922	C	T	14: 101,729,457	A120T	unknown	Het
Hectd4	A	T	5: 121,310,681	Y364F	probably benign	Het
Hnrnph1	A	G	11: 50,385,869	S465G	unknown	Het
Ifi204	T	C	1: 173,749,358	Y559C	probably damaging	Het
Ift88	T	C	14: 57,481,396	S613P	probably damaging	Het
Kif21a	G	C	15: 90,985,325	A441G	probably damaging	Het
Kif21a	G	T	15: 90,995,512	T191K	probably benign	Het
Lrit1	T	A	14: 37,060,127	C252*	probably null	Het
Ncbp1	T	A	4: 46,144,837	D29E	probably benign	Het
Nlrp10	A	T	7: 108,925,528	D248E	probably damaging	Het
Nphp4	T	G	4: 152,547,064	V807G	probably benign	Het
Nsd1	T	C	13: 55,246,043	S589P	possibly damaging	Het
Oas1b	T	A	5: 120,814,485	N80K	probably damaging	Het
Olfr1055	G	A	2: 86,347,239	H176Y	probably benign	Het
Olfr1135	A	T	2: 87,671,761	I202N	probably benign	Het
Oprk1	T	A	1: 5,598,873	C181S	probably damaging	Het
Oprl1	T	A	2: 181,718,419	N89K	probably damaging	Het
Pdcd11	A	G	19: 47,129,302	K1697E	probably damaging	Het
Pdp1	G	A	4: 11,961,607	H254Y	probably benign	Het
Pds5b	A	T	5: 150,805,663	D1419V	possibly damaging	Het
Per1	G	T	11: 69,100,649	G3V	probably benign	Het
Pex16	C	A	2: 92,376,643	N55K	probably damaging	Het
Phldb2	C	A	16: 45,774,977	L862F	probably benign	Het
Pld5	T	A	1: 175,964,006	D478V	probably benign	Het
Pms2	T	C	5: 143,914,796	I177T	probably damaging	Het
Pou1f1	A	T	16: 65,529,872	E119D	probably benign	Het
Ppp2r1a	A	C	17: 20,958,796	E295A	probably damaging	Het
Rad51ap2	A	T	12: 11,457,592	N505I	possibly damaging	Het
Rasal3	A	C	17: 32,396,562	V434G	probably damaging	Het
Rasgrf2	C	T	13: 91,987,973	V6M		Het
Rwdd1	A	T	10: 34,001,156	D197E		Het
Scn11a	A	T	9: 119,790,010	C755*	probably null	Het
Skil	T	C	3: 31,116,860	S443P	probably benign	Het
Slc12a6	T	C	2: 112,356,472	C939R	probably damaging	Het
Slc25a36	A	G	9: 97,079,177	S269P	probably benign	Het
Srrm4	T	A	5: 116,482,393	H92L	unknown	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,301,649		probably benign	Het
Tbc1d4	A	T	14: 101,507,410	V260E	probably benign	Het
Tbc1d8	T	C	1: 39,385,232	N593D	probably damaging	Het
Trex1	C	A	9: 109,058,737	R62L	probably damaging	Het
Trpm3	A	T	19: 22,715,352	D269V	possibly damaging	Het
Trpv4	G	T	5: 114,633,150	Y439*	probably null	Het
Ttn	G	A	2: 76,734,248	T28515I	probably damaging	Het
Ucn2	G	A	9: 108,986,503	G111D	probably damaging	Het
Uhrf2	A	G	19: 30,056,481	I212V	possibly damaging	Het
Usp24	T	A	4: 106,347,367	M261K	probably benign	Het
Vmn1r235	A	T	17: 21,261,698	D95V	probably benign	Het
Vwf	G	A	6: 125,624,573	R826Q		Het
Zfp28	T	C	7: 6,393,879	C438R	probably damaging	Het

Other mutations in Arhgef26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Arhgef26	APN	3	62340383	missense	probably benign
IGL01060:Arhgef26	APN	3	62340121	missense	probably benign	0.44
IGL01942:Arhgef26	APN	3	62340094	missense	probably benign	0.03
IGL02085:Arhgef26	APN	3	62459724	intron	probably benign
IGL02172:Arhgef26	APN	3	62459676	missense	probably benign	0.03
IGL03017:Arhgef26	APN	3	62448281	missense	possibly damaging	0.46
IGL03101:Arhgef26	APN	3	62419661	missense	possibly damaging	0.95
IGL03296:Arhgef26	APN	3	62423505	missense	probably damaging	1.00
IGL03401:Arhgef26	APN	3	62423532	missense	possibly damaging	0.95
R0138:Arhgef26	UTSW	3	62448259	missense	probably benign	0.06
R0140:Arhgef26	UTSW	3	62448245	missense	probably benign	0.02
R0152:Arhgef26	UTSW	3	62423544	missense	probably damaging	0.99
R0157:Arhgef26	UTSW	3	62380971	missense	probably damaging	1.00
R0308:Arhgef26	UTSW	3	62340399	missense	probably benign	0.01
R0317:Arhgef26	UTSW	3	62423544	missense	probably damaging	0.99
R0529:Arhgef26	UTSW	3	62339725	missense	probably benign
R0825:Arhgef26	UTSW	3	62426593	missense	probably damaging	0.97
R1331:Arhgef26	UTSW	3	62340028	missense	probably benign	0.00
R1333:Arhgef26	UTSW	3	62340323	missense	probably benign	0.04
R1351:Arhgef26	UTSW	3	62380841	missense	probably damaging	1.00
R1740:Arhgef26	UTSW	3	62423583	missense	probably damaging	1.00
R2121:Arhgef26	UTSW	3	62340283	missense	probably damaging	0.96
R2404:Arhgef26	UTSW	3	62428915	missense	possibly damaging	0.90
R2437:Arhgef26	UTSW	3	62432581	missense	probably damaging	0.96
R2939:Arhgef26	UTSW	3	62380910	missense	possibly damaging	0.72
R3084:Arhgef26	UTSW	3	62377616	missense	probably benign	0.19
R3712:Arhgef26	UTSW	3	62423629	missense	probably damaging	1.00
R4005:Arhgef26	UTSW	3	62340395	missense	probably benign
R4225:Arhgef26	UTSW	3	62380922	missense	probably benign	0.00
R4635:Arhgef26	UTSW	3	62340440	missense	probably damaging	1.00
R4961:Arhgef26	UTSW	3	62459625	missense	probably damaging	1.00
R4989:Arhgef26	UTSW	3	62340385	missense	possibly damaging	0.94
R5249:Arhgef26	UTSW	3	62340560	missense	probably damaging	1.00
R5284:Arhgef26	UTSW	3	62419631	missense	probably damaging	0.99
R5661:Arhgef26	UTSW	3	62377654	splice site	probably benign
R5970:Arhgef26	UTSW	3	62340047	missense	probably benign
R6022:Arhgef26	UTSW	3	62428939	missense	probably damaging	1.00
R6193:Arhgef26	UTSW	3	62339792	missense	possibly damaging	0.49
R6247:Arhgef26	UTSW	3	62380960	missense	probably damaging	1.00
R6434:Arhgef26	UTSW	3	62428914	missense	probably damaging	0.99
R6827:Arhgef26	UTSW	3	62423498	splice site	probably null
R7111:Arhgef26	UTSW	3	62345268	missense	possibly damaging	0.90
R7128:Arhgef26	UTSW	3	62419550	missense	possibly damaging	0.94
R7360:Arhgef26	UTSW	3	62448205	missense	possibly damaging	0.63
R7456:Arhgef26	UTSW	3	62340055	missense	probably benign	0.00
R8039:Arhgef26	UTSW	3	62339930	missense	probably benign	0.32
R8120:Arhgef26	UTSW	3	62341375	missense	probably damaging	1.00
R8511:Arhgef26	UTSW	3	62428929	missense	probably damaging	0.98
R8887:Arhgef26	UTSW	3	62339980	missense	probably benign	0.04
R8979:Arhgef26	UTSW	3	62339548	missense	possibly damaging	0.78
R8993:Arhgef26	UTSW	3	62448104	missense	probably benign	0.43
R9213:Arhgef26	UTSW	3	62432579	missense	probably benign	0.03
R9269:Arhgef26	UTSW	3	62340499	missense	probably damaging	0.98
R9776:Arhgef26	UTSW	3	62339382	start gained	probably benign
Z1177:Arhgef26	UTSW	3	62339930	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- ACCGACCTGTGTATTTGGTAATG -3'
(R):5'- TGGGTAATGTTTCACCAGAGTG -3'

Sequencing Primer
(F):5'- AATGTGGTTTCATTTGCTTTTAGGC -3'
(R):5'- GACAGATTTTGCAGGTGG -3'

Posted On

2022-10-06