Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03017:Arhgef26'

407937

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgef26

Ensembl Gene

ENSMUSG00000036885

Gene Name

Rho guanine nucleotide exchange factor 26

Synonyms

8430436L14Rik, 4631416L12Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03017

Quality Score

Status

Chromosome

Chromosomal Location

62245765-62369642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62355702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 758 (M758K)

Ref Sequence

ENSEMBL: ENSMUSP00000078281 (fasta)

Gene Model

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

AlphaFold

D3YYY8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079300
AA Change: M758K

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000078281
Gene: ENSMUSG00000036885
AA Change: M758K

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

unknown
Transcript: ENSMUST00000161057
AA Change: M224K

SMART Domains

Protein: ENSMUSP00000124392
Gene: ENSMUSG00000036885
AA Change: M224K

Domain	Start	End	E-Value	Type
Pfam:RhoGEF	2	87	2.3e-19	PFAM
PH	121	249	4.04e-9	SMART

Coding Region Coverage

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef11	C	A	3: 87,624,367 (GRCm39)	Y519*	probably null	Het
Ccdc187	T	C	2: 26,170,978 (GRCm39)	Y500C	probably benign	Het
Cul5	A	T	9: 53,555,785 (GRCm39)		probably null	Het
Dnah5	A	C	15: 28,340,471 (GRCm39)	I2293L	possibly damaging	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
Gpr45	C	T	1: 43,071,516 (GRCm39)	T53M	possibly damaging	Het
Hoxd3	T	A	2: 74,577,050 (GRCm39)	M310K	possibly damaging	Het
Mtr	A	G	13: 12,262,777 (GRCm39)		probably null	Het
Mup4	T	A	4: 59,957,890 (GRCm39)	N171I	probably damaging	Het
Myo15b	T	A	11: 115,778,743 (GRCm39)	I1157N	possibly damaging	Het
Myo1d	C	T	11: 80,492,452 (GRCm39)	V768I	probably benign	Het
Nlrp4c	T	C	7: 6,087,679 (GRCm39)	C771R	probably benign	Het
Or1e30	C	A	11: 73,678,344 (GRCm39)	H193Q	probably benign	Het
Patj	G	A	4: 98,353,264 (GRCm39)		probably benign	Het
Pkp3	C	A	7: 140,663,283 (GRCm39)	A376D	probably benign	Het
Pkp4	T	C	2: 59,096,769 (GRCm39)	V57A	probably benign	Het
Poteg	A	T	8: 27,952,069 (GRCm39)	K232N	probably benign	Het
Psat1	G	T	19: 15,894,499 (GRCm39)	A168E	possibly damaging	Het
Rassf8	T	A	6: 145,762,924 (GRCm39)		probably null	Het
Slc37a3	T	A	6: 39,326,315 (GRCm39)	I281L	probably benign	Het
Sncaip	A	T	18: 53,028,009 (GRCm39)	H466L	possibly damaging	Het
Ttn	T	C	2: 76,698,646 (GRCm39)	T30A	possibly damaging	Het
Ttn	T	C	2: 76,617,460 (GRCm39)	E16337G	probably damaging	Het
Usp13	G	A	3: 32,969,861 (GRCm39)	M662I	possibly damaging	Het
Vmn2r111	A	T	17: 22,789,839 (GRCm39)	M389K	probably damaging	Het
Vmn2r39	A	C	7: 9,017,940 (GRCm39)	Y799D	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
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
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

Posted On

2016-08-02