Incidental Mutation 'R8120:Arhgef26'
| ID |
631440 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef26
|
| Ensembl Gene |
ENSMUSG00000036885 |
| Gene Name |
Rho guanine nucleotide exchange factor 26 |
| Synonyms |
8430436L14Rik, 4631416L12Rik |
| MMRRC Submission |
067549-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R8120 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
62245765-62369642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62248796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 370
(D370V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079300]
|
| AlphaFold |
D3YYY8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079300
AA Change: D370V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000078281
Gene: ENSMUSG00000036885
AA Change: D370V
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 95.1%
|
| Validation Efficiency |
100% (57/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
A |
T |
4: 144,349,460 (GRCm39) |
Q239L |
probably benign |
Het |
| Abca12 |
T |
C |
1: 71,298,540 (GRCm39) |
I2361V |
possibly damaging |
Het |
| Abcc8 |
T |
C |
7: 45,786,108 (GRCm39) |
E655G |
probably benign |
Het |
| Ablim1 |
C |
T |
19: 57,035,360 (GRCm39) |
V662I |
probably benign |
Het |
| Acte1 |
A |
G |
7: 143,425,524 (GRCm39) |
T58A |
probably benign |
Het |
| Als2cl |
A |
C |
9: 110,714,460 (GRCm39) |
I103L |
possibly damaging |
Het |
| Brwd1 |
A |
C |
16: 95,820,649 (GRCm39) |
D1292E |
probably benign |
Het |
| Cdc5l |
T |
C |
17: 45,718,796 (GRCm39) |
T607A |
probably benign |
Het |
| Cfhr1 |
T |
C |
1: 139,475,583 (GRCm39) |
Y296C |
unknown |
Het |
| Cubn |
A |
T |
2: 13,336,471 (GRCm39) |
C2452S |
probably damaging |
Het |
| Dgcr2 |
A |
T |
16: 17,675,183 (GRCm39) |
Y187* |
probably null |
Het |
| Dhodh |
G |
A |
8: 110,328,057 (GRCm39) |
T172I |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 73,002,769 (GRCm39) |
R3876C |
probably damaging |
Het |
| Dnai4 |
G |
A |
4: 102,923,531 (GRCm39) |
R433W |
probably damaging |
Het |
| Farsb |
A |
T |
1: 78,439,475 (GRCm39) |
N389K |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,228,527 (GRCm39) |
T1735A |
probably benign |
Het |
| Garin4 |
T |
G |
1: 190,895,022 (GRCm39) |
Q540H |
probably damaging |
Het |
| Gpcpd1 |
C |
T |
2: 132,395,943 (GRCm39) |
R136H |
probably damaging |
Het |
| Gpr171 |
T |
A |
3: 59,005,406 (GRCm39) |
Y123F |
probably damaging |
Het |
| Hcar1 |
C |
A |
5: 124,017,068 (GRCm39) |
V208F |
probably damaging |
Het |
| Hgf |
T |
A |
5: 16,818,779 (GRCm39) |
L524M |
probably damaging |
Het |
| Itga2b |
A |
T |
11: 102,360,368 (GRCm39) |
H57Q |
probably damaging |
Het |
| Itpripl2 |
G |
T |
7: 118,089,508 (GRCm39) |
N350K |
probably damaging |
Het |
| Limk2 |
C |
T |
11: 3,298,589 (GRCm39) |
|
probably null |
Het |
| Nae1 |
A |
T |
8: 105,246,267 (GRCm39) |
V315E |
probably damaging |
Het |
| Nars1 |
T |
C |
18: 64,637,422 (GRCm39) |
Y386C |
probably benign |
Het |
| Odr4 |
T |
C |
1: 150,260,177 (GRCm39) |
|
probably null |
Het |
| Or10j3 |
C |
T |
1: 173,031,502 (GRCm39) |
T193I |
probably benign |
Het |
| Or6z5 |
A |
T |
7: 6,477,119 (GRCm39) |
R3S |
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,717,574 (GRCm39) |
A1512T |
probably benign |
Het |
| Pde1b |
A |
G |
15: 103,430,524 (GRCm39) |
D176G |
possibly damaging |
Het |
| Pde4dip |
T |
A |
3: 97,614,254 (GRCm39) |
T1855S |
probably null |
Het |
| Prr12 |
A |
G |
7: 44,684,166 (GRCm39) |
Y1625H |
probably damaging |
Het |
| Psmc2 |
T |
C |
5: 22,005,566 (GRCm39) |
Y216H |
probably damaging |
Het |
| Ptchd3 |
A |
T |
11: 121,733,034 (GRCm39) |
E641D |
probably benign |
Het |
| Rtf1 |
A |
G |
2: 119,531,602 (GRCm39) |
T110A |
probably damaging |
Het |
| Rusc1 |
C |
A |
3: 88,996,513 (GRCm39) |
W690L |
probably damaging |
Het |
| Sardh |
A |
G |
2: 27,108,863 (GRCm39) |
V624A |
possibly damaging |
Het |
| Slc17a9 |
G |
A |
2: 180,374,308 (GRCm39) |
G125S |
probably benign |
Het |
| Smpdl3a |
A |
T |
10: 57,683,547 (GRCm39) |
N219I |
probably damaging |
Het |
| Spo11 |
G |
T |
2: 172,827,251 (GRCm39) |
D155Y |
probably damaging |
Het |
| Stk38l |
A |
G |
6: 146,660,099 (GRCm39) |
T44A |
probably benign |
Het |
| Tceanc2 |
A |
T |
4: 107,034,829 (GRCm39) |
I11N |
probably benign |
Het |
| Tead2 |
A |
T |
7: 44,865,752 (GRCm39) |
|
probably benign |
Het |
| Tpk1 |
A |
G |
6: 43,445,930 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,593,835 (GRCm39) |
N20602D |
probably damaging |
Het |
| Tub |
T |
A |
7: 108,624,803 (GRCm39) |
|
probably null |
Het |
| Uba2 |
A |
T |
7: 33,867,812 (GRCm39) |
S42T |
probably benign |
Het |
| Vangl1 |
T |
A |
3: 102,070,758 (GRCm39) |
R393* |
probably null |
Het |
| Washc3 |
G |
A |
10: 88,037,159 (GRCm39) |
|
probably null |
Het |
| Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp267 |
A |
T |
3: 36,218,640 (GRCm39) |
N221I |
possibly damaging |
Het |
| Zfp386 |
C |
T |
12: 116,018,573 (GRCm39) |
P81S |
unknown |
Het |
| Zw10 |
A |
T |
9: 48,985,413 (GRCm39) |
E616D |
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 |
|
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 |
|
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'- TCACAGTGAAATGAGTGGGACC -3'
(R):5'- CAAGGTTAGCTGGGTGAACAC -3'
Sequencing Primer
(F):5'- CTAGTTTAACGGGGACACTCTAC -3'
(R):5'- CCCAAGTATCCTTGTTACTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation