Incidental Mutation 'R5970:Arhgef26'
| ID |
470788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef26
|
| Ensembl Gene |
ENSMUSG00000036885 |
| Gene Name |
Rho guanine nucleotide exchange factor (GEF) 26 |
| Synonyms |
4631416L12Rik, 8430436L14Rik |
| MMRRC Submission |
044153-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.225)
|
| Stock # |
R5970 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
62338344-62462221 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62340047 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 184
(V184A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079300]
|
| AlphaFold |
D3YYY8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079300
AA Change: V184A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000078281
Gene: ENSMUSG00000036885
AA Change: V184A
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (63/64) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l1 |
G |
A |
6: 90,597,046 (GRCm38) |
|
probably benign |
Het |
| Ambn |
T |
C |
5: 88,467,951 (GRCm38) |
V413A |
possibly damaging |
Het |
| Amotl1 |
T |
A |
9: 14,596,528 (GRCm38) |
D41V |
probably damaging |
Het |
| Birc6 |
G |
T |
17: 74,618,502 (GRCm38) |
G936V |
possibly damaging |
Het |
| Ccser1 |
T |
A |
6: 61,311,242 (GRCm38) |
S130T |
possibly damaging |
Het |
| Cecr2 |
A |
G |
6: 120,720,907 (GRCm38) |
I56V |
probably damaging |
Het |
| Cfap52 |
A |
G |
11: 67,930,744 (GRCm38) |
I486T |
probably damaging |
Het |
| Col4a3 |
A |
G |
1: 82,716,329 (GRCm38) |
I1557V |
possibly damaging |
Het |
| Col6a5 |
T |
A |
9: 105,945,847 (GRCm38) |
I104F |
unknown |
Het |
| Cry2 |
A |
G |
2: 92,412,967 (GRCm38) |
S510P |
probably benign |
Het |
| Csmd2 |
G |
C |
4: 128,546,151 (GRCm38) |
A3133P |
probably benign |
Het |
| Cyld |
G |
T |
8: 88,732,993 (GRCm38) |
A611S |
probably damaging |
Het |
| Dennd4c |
G |
A |
4: 86,825,512 (GRCm38) |
G1197E |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,808,729 (GRCm38) |
F2969L |
probably benign |
Het |
| Dnaic1 |
A |
G |
4: 41,625,281 (GRCm38) |
K415R |
probably benign |
Het |
| Dnmbp |
T |
A |
19: 43,854,171 (GRCm38) |
T1253S |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,195,702 (GRCm38) |
L1542P |
possibly damaging |
Het |
| Duox1 |
T |
A |
2: 122,340,201 (GRCm38) |
L1234Q |
probably damaging |
Het |
| Efr3b |
T |
A |
12: 3,968,590 (GRCm38) |
R585S |
possibly damaging |
Het |
| Gpt |
A |
G |
15: 76,699,352 (GRCm38) |
|
probably null |
Het |
| Heatr6 |
G |
A |
11: 83,753,718 (GRCm38) |
|
probably benign |
Het |
| Kcns2 |
A |
G |
15: 34,839,784 (GRCm38) |
D431G |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,829,289 (GRCm38) |
N1543D |
probably damaging |
Het |
| Man2a1 |
A |
G |
17: 64,625,380 (GRCm38) |
K154R |
probably benign |
Het |
| Mical3 |
G |
A |
6: 120,958,271 (GRCm38) |
Q893* |
probably null |
Het |
| Morc3 |
C |
T |
16: 93,866,453 (GRCm38) |
H515Y |
possibly damaging |
Het |
| Mprip |
A |
T |
11: 59,757,721 (GRCm38) |
R750S |
probably damaging |
Het |
| Mroh1 |
G |
A |
15: 76,451,491 (GRCm38) |
V1436M |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,790,669 (GRCm38) |
R69* |
probably null |
Het |
| Muc5b |
A |
T |
7: 141,856,712 (GRCm38) |
Y1274F |
unknown |
Het |
| Mybpc1 |
A |
G |
10: 88,542,456 (GRCm38) |
L674P |
probably damaging |
Het |
| Mypn |
A |
G |
10: 63,131,023 (GRCm38) |
V958A |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,296,818 (GRCm38) |
T2436A |
probably benign |
Het |
| Olfr835 |
A |
G |
9: 19,035,147 (GRCm38) |
D8G |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,321,773 (GRCm38) |
L402Q |
probably damaging |
Het |
| Pigp |
T |
A |
16: 94,370,194 (GRCm38) |
|
probably null |
Het |
| Rp1 |
A |
G |
1: 4,348,462 (GRCm38) |
L809P |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,494,781 (GRCm38) |
|
probably benign |
Het |
| Sdf2 |
A |
T |
11: 78,246,080 (GRCm38) |
M29L |
probably benign |
Het |
| Serpina3b |
T |
G |
12: 104,134,091 (GRCm38) |
L311V |
possibly damaging |
Het |
| Snx31 |
A |
T |
15: 36,523,488 (GRCm38) |
Y349* |
probably null |
Het |
| Spidr |
A |
C |
16: 16,114,869 (GRCm38) |
C182W |
probably damaging |
Het |
| St13 |
A |
T |
15: 81,377,798 (GRCm38) |
S146R |
probably damaging |
Het |
| St8sia4 |
A |
G |
1: 95,653,582 (GRCm38) |
V145A |
probably damaging |
Het |
| Stradb |
T |
C |
1: 58,980,016 (GRCm38) |
|
probably null |
Het |
| Tcp11l2 |
T |
A |
10: 84,594,797 (GRCm38) |
|
probably benign |
Het |
| Tfdp2 |
C |
T |
9: 96,317,574 (GRCm38) |
P74S |
unknown |
Het |
| Tmprss15 |
C |
T |
16: 79,057,659 (GRCm38) |
R287H |
probably benign |
Het |
| Trav10d |
T |
C |
14: 52,811,322 (GRCm38) |
Y57H |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,029,471 (GRCm38) |
I846T |
probably benign |
Het |
| Ywhah |
T |
A |
5: 33,026,948 (GRCm38) |
M165K |
possibly damaging |
Het |
| Zfp324 |
C |
A |
7: 12,969,366 (GRCm38) |
P72T |
probably benign |
Het |
|
| Other mutations in Arhgef26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Arhgef26
|
APN |
3 |
62,340,383 (GRCm38) |
missense |
probably benign |
|
|
IGL01060:Arhgef26
|
APN |
3 |
62,340,121 (GRCm38) |
missense |
probably benign |
0.44 |
|
IGL01942:Arhgef26
|
APN |
3 |
62,340,094 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02085:Arhgef26
|
APN |
3 |
62,459,724 (GRCm38) |
intron |
probably benign |
|
|
IGL02172:Arhgef26
|
APN |
3 |
62,459,676 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL03017:Arhgef26
|
APN |
3 |
62,448,281 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL03101:Arhgef26
|
APN |
3 |
62,419,661 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL03296:Arhgef26
|
APN |
3 |
62,423,505 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03401:Arhgef26
|
APN |
3 |
62,423,532 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0138:Arhgef26
|
UTSW |
3 |
62,448,259 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0140:Arhgef26
|
UTSW |
3 |
62,448,245 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0152:Arhgef26
|
UTSW |
3 |
62,423,544 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0157:Arhgef26
|
UTSW |
3 |
62,380,971 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0308:Arhgef26
|
UTSW |
3 |
62,340,399 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0317:Arhgef26
|
UTSW |
3 |
62,423,544 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0529:Arhgef26
|
UTSW |
3 |
62,339,725 (GRCm38) |
missense |
probably benign |
|
|
R0825:Arhgef26
|
UTSW |
3 |
62,426,593 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1331:Arhgef26
|
UTSW |
3 |
62,340,028 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1333:Arhgef26
|
UTSW |
3 |
62,340,323 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1351:Arhgef26
|
UTSW |
3 |
62,380,841 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1740:Arhgef26
|
UTSW |
3 |
62,423,583 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2121:Arhgef26
|
UTSW |
3 |
62,340,283 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2404:Arhgef26
|
UTSW |
3 |
62,428,915 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R2437:Arhgef26
|
UTSW |
3 |
62,432,581 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2939:Arhgef26
|
UTSW |
3 |
62,380,910 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R3084:Arhgef26
|
UTSW |
3 |
62,377,616 (GRCm38) |
missense |
probably benign |
0.19 |
|
R3712:Arhgef26
|
UTSW |
3 |
62,423,629 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4005:Arhgef26
|
UTSW |
3 |
62,340,395 (GRCm38) |
missense |
probably benign |
|
|
R4225:Arhgef26
|
UTSW |
3 |
62,380,922 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4635:Arhgef26
|
UTSW |
3 |
62,340,440 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4961:Arhgef26
|
UTSW |
3 |
62,459,625 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4989:Arhgef26
|
UTSW |
3 |
62,340,385 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5249:Arhgef26
|
UTSW |
3 |
62,340,560 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5284:Arhgef26
|
UTSW |
3 |
62,419,631 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5661:Arhgef26
|
UTSW |
3 |
62,377,654 (GRCm38) |
splice site |
probably benign |
|
|
R6022:Arhgef26
|
UTSW |
3 |
62,428,939 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6193:Arhgef26
|
UTSW |
3 |
62,339,792 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R6247:Arhgef26
|
UTSW |
3 |
62,380,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6434:Arhgef26
|
UTSW |
3 |
62,428,914 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6827:Arhgef26
|
UTSW |
3 |
62,423,498 (GRCm38) |
splice site |
probably null |
|
|
R7111:Arhgef26
|
UTSW |
3 |
62,345,268 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7128:Arhgef26
|
UTSW |
3 |
62,419,550 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7360:Arhgef26
|
UTSW |
3 |
62,448,205 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R7456:Arhgef26
|
UTSW |
3 |
62,340,055 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8039:Arhgef26
|
UTSW |
3 |
62,339,930 (GRCm38) |
missense |
probably benign |
0.32 |
|
R8120:Arhgef26
|
UTSW |
3 |
62,341,375 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8511:Arhgef26
|
UTSW |
3 |
62,428,929 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8887:Arhgef26
|
UTSW |
3 |
62,339,980 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8979:Arhgef26
|
UTSW |
3 |
62,339,548 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R8993:Arhgef26
|
UTSW |
3 |
62,448,104 (GRCm38) |
missense |
probably benign |
0.43 |
|
R9213:Arhgef26
|
UTSW |
3 |
62,432,579 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9269:Arhgef26
|
UTSW |
3 |
62,340,499 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9712:Arhgef26
|
UTSW |
3 |
62,423,613 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9776:Arhgef26
|
UTSW |
3 |
62,339,382 (GRCm38) |
start gained |
probably benign |
|
|
Z1177:Arhgef26
|
UTSW |
3 |
62,339,930 (GRCm38) |
missense |
probably benign |
0.32 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACTTCTAATGGCACCGTG -3'
(R):5'- TCAGTTTAATTTCAGAGGCAAGGC -3'
Sequencing Primer
(F):5'- TCTAATGGCACCGTGGCCTC -3'
(R):5'- CAGAGGCAAGGCTTTTTGGGATAATC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation