Incidental Mutation 'R0529:Arhgef26'
ID |
49036 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef26
|
Ensembl Gene |
ENSMUSG00000036885 |
Gene Name |
Rho guanine nucleotide exchange factor 26 |
Synonyms |
8430436L14Rik, 4631416L12Rik |
MMRRC Submission |
038721-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.230)
|
Stock # |
R0529 (G1)
|
Quality Score |
81 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
62245765-62369642 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 62247146 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 77
(S77P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078281
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079300]
|
AlphaFold |
D3YYY8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079300
AA Change: S77P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000078281 Gene: ENSMUSG00000036885 AA Change: S77P
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
97% (58/60) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
G |
A |
17: 9,211,228 (GRCm39) |
V126I |
probably benign |
Het |
Aasdh |
A |
C |
5: 77,024,114 (GRCm39) |
Y179* |
probably null |
Het |
Afp |
A |
G |
5: 90,652,254 (GRCm39) |
Y415C |
probably damaging |
Het |
Aldh5a1 |
G |
T |
13: 25,097,856 (GRCm39) |
T393K |
probably benign |
Het |
Axl |
A |
G |
7: 25,486,712 (GRCm39) |
|
probably benign |
Het |
Card10 |
A |
G |
15: 78,664,675 (GRCm39) |
|
probably null |
Het |
Ccdc71l |
G |
A |
12: 32,429,251 (GRCm39) |
S90N |
probably damaging |
Het |
Cebpa |
A |
T |
7: 34,819,624 (GRCm39) |
T261S |
probably benign |
Het |
Cnmd |
T |
C |
14: 79,879,481 (GRCm39) |
E219G |
probably benign |
Het |
Cntln |
T |
A |
4: 84,986,062 (GRCm39) |
L1010H |
probably damaging |
Het |
Cul9 |
A |
G |
17: 46,831,394 (GRCm39) |
|
probably benign |
Het |
Cyld |
A |
G |
8: 89,456,387 (GRCm39) |
E479G |
probably benign |
Het |
Dmp1 |
A |
G |
5: 104,360,092 (GRCm39) |
E256G |
probably benign |
Het |
Dnmt1 |
T |
C |
9: 20,822,846 (GRCm39) |
D1140G |
probably damaging |
Het |
Drd2 |
A |
C |
9: 49,318,374 (GRCm39) |
M439L |
probably benign |
Het |
Drd3 |
G |
A |
16: 43,643,077 (GRCm39) |
V438M |
probably damaging |
Het |
Dyrk3 |
A |
G |
1: 131,057,858 (GRCm39) |
I70T |
probably benign |
Het |
Fbxo38 |
T |
C |
18: 62,639,057 (GRCm39) |
K1082E |
probably damaging |
Het |
Fbxw10 |
A |
C |
11: 62,750,671 (GRCm39) |
D428A |
probably damaging |
Het |
Fmn1 |
T |
A |
2: 113,538,198 (GRCm39) |
|
probably benign |
Het |
Fmnl2 |
A |
T |
2: 52,932,377 (GRCm39) |
I119F |
probably damaging |
Het |
Frmd4a |
A |
G |
2: 4,610,834 (GRCm39) |
T995A |
probably damaging |
Het |
Gda |
T |
A |
19: 21,402,901 (GRCm39) |
I82F |
probably damaging |
Het |
Gpatch4 |
T |
A |
3: 87,958,583 (GRCm39) |
H22Q |
probably damaging |
Het |
Gpr55 |
A |
G |
1: 85,869,225 (GRCm39) |
F119L |
probably benign |
Het |
Gtf2i |
A |
T |
5: 134,290,723 (GRCm39) |
L425* |
probably null |
Het |
Knstrn |
T |
A |
2: 118,661,461 (GRCm39) |
|
probably benign |
Het |
Lipo2 |
T |
A |
19: 33,724,335 (GRCm39) |
I144L |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,377,463 (GRCm39) |
|
probably null |
Het |
Mtmr14 |
T |
C |
6: 113,243,213 (GRCm39) |
|
probably benign |
Het |
Nsmce4a |
A |
T |
7: 130,135,536 (GRCm39) |
S345R |
probably benign |
Het |
Oacyl |
T |
A |
18: 65,875,290 (GRCm39) |
V385D |
probably damaging |
Het |
Or6k8-ps1 |
G |
A |
1: 173,979,696 (GRCm39) |
A205T |
probably benign |
Het |
Or8b52 |
A |
T |
9: 38,576,808 (GRCm39) |
C111S |
probably benign |
Het |
Phlpp2 |
T |
C |
8: 110,603,603 (GRCm39) |
S55P |
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,390,150 (GRCm39) |
V1422E |
possibly damaging |
Het |
Plcd3 |
T |
G |
11: 102,971,013 (GRCm39) |
H181P |
probably benign |
Het |
Psmc5 |
G |
A |
11: 106,151,990 (GRCm39) |
|
probably null |
Het |
Psmd11 |
T |
C |
11: 80,361,515 (GRCm39) |
|
probably benign |
Het |
Rab39 |
T |
C |
9: 53,598,016 (GRCm39) |
Y83C |
probably damaging |
Het |
Ric8a |
A |
G |
7: 140,440,806 (GRCm39) |
E93G |
probably damaging |
Het |
Rtp3 |
T |
C |
9: 110,816,152 (GRCm39) |
E133G |
possibly damaging |
Het |
Serpina1e |
A |
C |
12: 103,915,363 (GRCm39) |
L281R |
probably damaging |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Tent5c |
A |
G |
3: 100,379,686 (GRCm39) |
Y357H |
probably benign |
Het |
Tmem63a |
A |
T |
1: 180,788,659 (GRCm39) |
E332V |
probably benign |
Het |
Tnk1 |
T |
C |
11: 69,745,990 (GRCm39) |
T312A |
probably damaging |
Het |
Traf3ip3 |
G |
T |
1: 192,877,119 (GRCm39) |
|
probably benign |
Het |
Trappc11 |
A |
G |
8: 47,980,014 (GRCm39) |
V174A |
possibly damaging |
Het |
Vmn1r174 |
G |
A |
7: 23,453,622 (GRCm39) |
R96H |
probably benign |
Het |
Vmn1r7 |
T |
A |
6: 57,001,450 (GRCm39) |
Y270F |
possibly damaging |
Het |
Vmn2r12 |
A |
G |
5: 109,240,714 (GRCm39) |
V133A |
probably benign |
Het |
Vmn2r18 |
T |
A |
5: 151,485,988 (GRCm39) |
E502V |
probably damaging |
Het |
Wipf3 |
C |
A |
6: 54,462,348 (GRCm39) |
P186Q |
probably damaging |
Het |
Yipf5 |
A |
T |
18: 40,345,215 (GRCm39) |
M55K |
probably benign |
Het |
Zbtb7a |
G |
A |
10: 80,979,820 (GRCm39) |
V5M |
probably damaging |
Het |
Zfy1 |
G |
T |
Y: 726,040 (GRCm39) |
S575Y |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAGGCAACCTGAGCAGCTTTCC -3'
(R):5'- GCGAAGATACCTTACTGGCAGTCAC -3'
Sequencing Primer
(F):5'- GATTTTTCCAGCAACGGCG -3'
(R):5'- GGTGCAGTCCTCATCGG -3'
|
Posted On |
2013-06-12 |