Incidental Mutation 'R2121:Arhgef26'
ID |
231435 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef26
|
Ensembl Gene |
ENSMUSG00000036885 |
Gene Name |
Rho guanine nucleotide exchange factor 26 |
Synonyms |
8430436L14Rik, 4631416L12Rik |
MMRRC Submission |
040125-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.230)
|
Stock # |
R2121 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
62245765-62369642 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 62247704 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 263
(N263Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078281
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079300]
|
AlphaFold |
D3YYY8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079300
AA Change: N263Y
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000078281 Gene: ENSMUSG00000036885 AA Change: N263Y
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 |
0.1068 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
100% (66/66) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg5 |
T |
A |
17: 84,978,575 (GRCm39) |
E294D |
probably benign |
Het |
Adnp2 |
A |
G |
18: 80,172,385 (GRCm39) |
F675L |
probably benign |
Het |
Akna |
G |
A |
4: 63,295,137 (GRCm39) |
T1024I |
probably benign |
Het |
Ambn |
T |
A |
5: 88,608,617 (GRCm39) |
|
probably benign |
Het |
Aox3 |
T |
C |
1: 58,191,708 (GRCm39) |
|
probably benign |
Het |
Arhgef10 |
A |
G |
8: 14,984,820 (GRCm39) |
D200G |
probably damaging |
Het |
Arpp21 |
A |
G |
9: 111,965,738 (GRCm39) |
S375P |
probably damaging |
Het |
Bscl2 |
G |
T |
19: 8,817,146 (GRCm39) |
E25* |
probably null |
Het |
Ccl12 |
T |
A |
11: 81,992,776 (GRCm39) |
S17R |
probably damaging |
Het |
Cdh1 |
A |
G |
8: 107,390,842 (GRCm39) |
I653V |
probably benign |
Het |
Ceacam9 |
T |
A |
7: 16,455,928 (GRCm39) |
F12I |
probably benign |
Het |
Cfap47 |
T |
C |
X: 78,553,927 (GRCm39) |
I267V |
probably benign |
Het |
Cldn23 |
A |
G |
8: 36,293,389 (GRCm39) |
V33A |
probably benign |
Het |
Cog1 |
T |
C |
11: 113,540,424 (GRCm39) |
L13P |
probably damaging |
Het |
Col20a1 |
G |
C |
2: 180,638,249 (GRCm39) |
A346P |
probably damaging |
Het |
Col6a3 |
T |
C |
1: 90,738,087 (GRCm39) |
D537G |
probably damaging |
Het |
Ctnnd2 |
G |
A |
15: 30,669,660 (GRCm39) |
R423H |
probably damaging |
Het |
Cyp2a12 |
A |
G |
7: 26,736,071 (GRCm39) |
*493W |
probably null |
Het |
Dcdc2a |
T |
G |
13: 25,303,268 (GRCm39) |
S266R |
possibly damaging |
Het |
Diaph1 |
A |
T |
18: 38,029,442 (GRCm39) |
M330K |
unknown |
Het |
Dnah5 |
C |
T |
15: 28,297,151 (GRCm39) |
|
probably benign |
Het |
F13a1 |
T |
A |
13: 37,209,653 (GRCm39) |
Y104F |
probably benign |
Het |
Fam78b |
G |
A |
1: 166,906,278 (GRCm39) |
V146M |
probably damaging |
Het |
Fancl |
G |
T |
11: 26,409,841 (GRCm39) |
|
probably benign |
Het |
Gm10477 |
A |
G |
X: 55,570,192 (GRCm39) |
K31E |
probably damaging |
Het |
Gstm7 |
T |
C |
3: 107,834,230 (GRCm39) |
M175V |
probably benign |
Het |
Hcn4 |
T |
C |
9: 58,731,341 (GRCm39) |
S183P |
unknown |
Het |
Heatr1 |
T |
C |
13: 12,418,145 (GRCm39) |
V359A |
probably benign |
Het |
Ikbkb |
T |
C |
8: 23,157,233 (GRCm39) |
|
probably benign |
Het |
Ints6l |
T |
A |
X: 55,550,228 (GRCm39) |
S718T |
probably benign |
Het |
Kctd5 |
T |
C |
17: 24,274,940 (GRCm39) |
T212A |
probably benign |
Het |
Kdm3b |
T |
C |
18: 34,929,833 (GRCm39) |
|
probably benign |
Het |
Ltbp1 |
T |
A |
17: 75,617,154 (GRCm39) |
V1031E |
possibly damaging |
Het |
Lyst |
A |
G |
13: 13,835,556 (GRCm39) |
Y1746C |
probably damaging |
Het |
Mageb5 |
A |
G |
X: 90,823,701 (GRCm39) |
I226T |
probably damaging |
Het |
Mdc1 |
C |
T |
17: 36,158,835 (GRCm39) |
A405V |
probably benign |
Het |
Mlc1 |
A |
G |
15: 88,847,634 (GRCm39) |
Y305H |
probably benign |
Het |
Mtcl2 |
T |
C |
2: 156,875,245 (GRCm39) |
E835G |
probably damaging |
Het |
Muc4 |
A |
G |
16: 32,580,612 (GRCm39) |
Y2474C |
unknown |
Het |
Mybphl |
A |
C |
3: 108,282,492 (GRCm39) |
N175T |
probably damaging |
Het |
Ncbp3 |
T |
C |
11: 72,944,304 (GRCm39) |
V102A |
possibly damaging |
Het |
Neb |
A |
G |
2: 52,154,076 (GRCm39) |
F2345S |
probably damaging |
Het |
Nlrp6 |
T |
C |
7: 140,506,357 (GRCm39) |
V766A |
probably benign |
Het |
Odad4 |
T |
A |
11: 100,457,837 (GRCm39) |
|
probably null |
Het |
Or7e173 |
T |
G |
9: 19,938,797 (GRCm39) |
I146L |
probably benign |
Het |
Or8j3 |
T |
A |
2: 86,028,340 (GRCm39) |
Y252F |
possibly damaging |
Het |
Palb2 |
T |
C |
7: 121,727,004 (GRCm39) |
T289A |
possibly damaging |
Het |
Pde10a |
A |
T |
17: 9,196,047 (GRCm39) |
Q657L |
probably damaging |
Het |
Ppp2r2a |
A |
T |
14: 67,260,577 (GRCm39) |
F234I |
probably damaging |
Het |
Prl3c1 |
T |
A |
13: 27,383,325 (GRCm39) |
|
probably null |
Het |
Psg20 |
T |
A |
7: 18,414,947 (GRCm39) |
Y316F |
probably benign |
Het |
Sap18 |
T |
A |
14: 58,036,011 (GRCm39) |
S66T |
probably damaging |
Het |
Serpina3m |
A |
G |
12: 104,355,941 (GRCm39) |
M203V |
possibly damaging |
Het |
Slc6a21 |
A |
T |
7: 44,937,886 (GRCm39) |
I726F |
probably benign |
Het |
Spmap2l |
A |
T |
5: 77,208,605 (GRCm39) |
I378L |
probably benign |
Het |
Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
Tfdp2 |
T |
C |
9: 96,177,067 (GRCm39) |
S75P |
probably damaging |
Het |
Tll1 |
T |
C |
8: 64,538,591 (GRCm39) |
E351G |
probably benign |
Het |
Tmed11 |
G |
A |
5: 108,943,198 (GRCm39) |
|
probably benign |
Het |
Tmem81 |
C |
A |
1: 132,435,847 (GRCm39) |
Q218K |
probably benign |
Het |
Tnfsf11 |
G |
A |
14: 78,537,333 (GRCm39) |
T110I |
probably benign |
Het |
Tub |
G |
A |
7: 108,625,944 (GRCm39) |
G232S |
probably damaging |
Het |
Vmn2r121 |
A |
T |
X: 123,043,439 (GRCm39) |
|
probably null |
Het |
Vwa5b1 |
T |
C |
4: 138,315,880 (GRCm39) |
T621A |
probably benign |
Het |
Ythdf3 |
T |
C |
3: 16,259,356 (GRCm39) |
F501S |
possibly 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 |
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'- CCAGTATCACAAACTGGTCAGC -3'
(R):5'- CTGCCCTTCTGTAAGACGTG -3'
Sequencing Primer
(F):5'- TCAGCCAGCTGGGGACTTG -3'
(R):5'- CTTCTGTAAGACGTGGACCTCAAG -3'
|
Posted On |
2014-09-18 |