Incidental Mutation 'R6827:Arhgef26'
| ID |
534196 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef26
|
| Ensembl Gene |
ENSMUSG00000036885 |
| Gene Name |
Rho guanine nucleotide exchange factor 26 |
| Synonyms |
8430436L14Rik, 4631416L12Rik |
| MMRRC Submission |
044938-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R6827 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
62245765-62369642 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 62330919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079300]
|
| AlphaFold |
D3YYY8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000079300
|
| SMART Domains |
Protein: ENSMUSP00000078281
Gene: ENSMUSG00000036885
| 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 |
probably null
Transcript: ENSMUST00000161057
|
| SMART Domains |
Protein: ENSMUSP00000124392
Gene: ENSMUSG00000036885
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RhoGEF
|
2 |
87 |
2.3e-19 |
PFAM |
|
PH
|
121 |
249 |
4.04e-9 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
97% (36/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb3 |
A |
G |
11: 31,051,211 (GRCm39) |
N555S |
probably benign |
Het |
| Bcr |
T |
C |
10: 74,966,896 (GRCm39) |
V501A |
probably damaging |
Het |
| Cchcr1 |
A |
G |
17: 35,841,302 (GRCm39) |
T773A |
possibly damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,054,091 (GRCm39) |
P2566S |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,840,191 (GRCm39) |
N139Y |
probably damaging |
Het |
| Ephx1 |
A |
G |
1: 180,817,453 (GRCm39) |
L406P |
probably damaging |
Het |
| Fbxl13 |
T |
A |
5: 21,727,176 (GRCm39) |
I607F |
probably damaging |
Het |
| Gm3573 |
T |
A |
14: 42,010,429 (GRCm39) |
T59S |
probably benign |
Het |
| Gm572 |
T |
C |
4: 148,742,543 (GRCm39) |
L94P |
possibly damaging |
Het |
| Gypa |
A |
T |
8: 81,231,417 (GRCm39) |
M109L |
probably benign |
Het |
| Hk3 |
C |
A |
13: 55,159,165 (GRCm39) |
V409L |
probably damaging |
Het |
| Kcnh6 |
A |
G |
11: 105,899,925 (GRCm39) |
T65A |
probably benign |
Het |
| Kdr |
G |
T |
5: 76,105,205 (GRCm39) |
P1055Q |
probably damaging |
Het |
| Lef1 |
T |
C |
3: 130,994,053 (GRCm39) |
|
probably null |
Het |
| Lrrc10 |
A |
G |
10: 116,881,545 (GRCm39) |
Q73R |
possibly damaging |
Het |
| Moxd1 |
C |
T |
10: 24,155,748 (GRCm39) |
T284I |
probably benign |
Het |
| Naf1 |
A |
T |
8: 67,330,343 (GRCm39) |
T290S |
possibly damaging |
Het |
| Naip5 |
C |
A |
13: 100,382,437 (GRCm39) |
V91L |
possibly damaging |
Het |
| Ncaph2 |
T |
C |
15: 89,255,530 (GRCm39) |
V568A |
probably damaging |
Het |
| Ntrk2 |
T |
C |
13: 59,274,382 (GRCm39) |
W753R |
probably damaging |
Het |
| Or51v15-ps1 |
C |
A |
7: 103,279,032 (GRCm39) |
C45F |
possibly damaging |
Het |
| Pbld1 |
C |
A |
10: 62,903,212 (GRCm39) |
N96K |
probably damaging |
Het |
| Pcdhac2 |
G |
A |
18: 37,277,706 (GRCm39) |
V229M |
probably benign |
Het |
| Prrc2b |
G |
T |
2: 32,090,963 (GRCm39) |
R445L |
probably benign |
Het |
| Scyl2 |
T |
C |
10: 89,505,666 (GRCm39) |
|
probably null |
Het |
| Sdf2l1 |
C |
G |
16: 16,950,158 (GRCm39) |
R6P |
probably benign |
Het |
| Slc22a5 |
A |
T |
11: 53,762,442 (GRCm39) |
I21N |
possibly damaging |
Het |
| Tex51 |
C |
T |
18: 32,591,713 (GRCm39) |
W186* |
probably null |
Het |
| Tmem168 |
A |
T |
6: 13,582,837 (GRCm39) |
F297L |
probably damaging |
Het |
| Trpm4 |
T |
C |
7: 44,968,052 (GRCm39) |
E293G |
possibly damaging |
Het |
| Trps1 |
T |
A |
15: 50,685,959 (GRCm39) |
T69S |
probably benign |
Het |
| Ubxn4 |
T |
C |
1: 128,204,714 (GRCm39) |
M468T |
probably benign |
Het |
| Unc5b |
C |
A |
10: 60,616,011 (GRCm39) |
R104L |
probably benign |
Het |
| Wfdc3 |
C |
T |
2: 164,576,178 (GRCm39) |
G38R |
possibly damaging |
Het |
| Wnt2b |
A |
G |
3: 104,854,408 (GRCm39) |
V350A |
probably benign |
Het |
| Zfp518b |
T |
C |
5: 38,828,882 (GRCm39) |
Q1041R |
probably damaging |
Het |
| Zranb1 |
T |
C |
7: 132,551,474 (GRCm39) |
F68L |
probably benign |
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 |
|
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'- GGTACCACAGCTTATGTTTAGCAC -3'
(R):5'- GCAGGTGGATGATATCTTCTCG -3'
Sequencing Primer
(F):5'- GCACTAAATATAAAAGGCAGAAAAGC -3'
(R):5'- CTCGATTAGGGGGTTTACAAATGAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation