Incidental Mutation 'R2437:Arhgef26'
ID |
249632 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef26
|
Ensembl Gene |
ENSMUSG00000036885 |
Gene Name |
Rho guanine nucleotide exchange factor 26 |
Synonyms |
8430436L14Rik, 4631416L12Rik |
MMRRC Submission |
040398-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.230)
|
Stock # |
R2437 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
62245765-62369642 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 62340002 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 675
(S675P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078281
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079300]
|
AlphaFold |
D3YYY8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079300
AA Change: S675P
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000078281 Gene: ENSMUSG00000036885 AA Change: S675P
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 |
unknown
Transcript: ENSMUST00000161057
AA Change: S141P
|
SMART Domains |
Protein: ENSMUSP00000124392 Gene: ENSMUSG00000036885 AA Change: S141P
Domain | Start | End | E-Value | Type |
Pfam:RhoGEF
|
2 |
87 |
2.3e-19 |
PFAM |
PH
|
121 |
249 |
4.04e-9 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192138
|
Meta Mutation Damage Score |
0.4511 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (75/75) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
A |
G |
4: 148,031,075 (GRCm39) |
*635W |
probably null |
Het |
Anxa2 |
A |
G |
9: 69,397,046 (GRCm39) |
Y317C |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 37,012,834 (GRCm39) |
|
probably null |
Het |
Camk2d |
A |
G |
3: 126,628,277 (GRCm39) |
N53S |
probably damaging |
Het |
Carns1 |
A |
T |
19: 4,215,782 (GRCm39) |
M800K |
possibly damaging |
Het |
Ces1f |
A |
T |
8: 93,996,767 (GRCm39) |
|
probably null |
Het |
Chrne |
T |
A |
11: 70,506,086 (GRCm39) |
D426V |
possibly damaging |
Het |
Cntfr |
T |
C |
4: 41,671,035 (GRCm39) |
T43A |
probably damaging |
Het |
Cntn5 |
A |
T |
9: 10,048,758 (GRCm39) |
C63* |
probably null |
Het |
Col12a1 |
G |
A |
9: 79,599,501 (GRCm39) |
T884I |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,307,537 (GRCm39) |
|
probably null |
Het |
Dnajc2 |
A |
T |
5: 21,965,389 (GRCm39) |
S537R |
probably benign |
Het |
Dnajc25 |
T |
C |
4: 59,020,234 (GRCm39) |
I100T |
probably damaging |
Het |
Ephx1 |
C |
A |
1: 180,823,661 (GRCm39) |
G149C |
probably damaging |
Het |
Fam163b |
G |
T |
2: 27,002,698 (GRCm39) |
P100T |
probably damaging |
Het |
Fbxl9 |
A |
G |
8: 106,039,675 (GRCm39) |
|
probably null |
Het |
Fgd5 |
A |
T |
6: 92,039,850 (GRCm39) |
R1017* |
probably null |
Het |
Fibin |
A |
T |
2: 110,192,848 (GRCm39) |
L98Q |
probably damaging |
Het |
Fndc3b |
A |
T |
3: 27,505,481 (GRCm39) |
L929H |
probably damaging |
Het |
Frem1 |
T |
A |
4: 82,918,410 (GRCm39) |
S512C |
probably damaging |
Het |
Gm4922 |
T |
A |
10: 18,659,829 (GRCm39) |
M298L |
probably benign |
Het |
Gstm2 |
G |
A |
3: 107,891,369 (GRCm39) |
|
probably benign |
Het |
Gtf3c2 |
A |
G |
5: 31,317,042 (GRCm39) |
|
probably null |
Het |
Ibtk |
A |
C |
9: 85,590,178 (GRCm39) |
L1026V |
probably benign |
Het |
Il9 |
T |
A |
13: 56,629,684 (GRCm39) |
|
probably benign |
Het |
Inpp4a |
T |
C |
1: 37,432,037 (GRCm39) |
S146P |
probably damaging |
Het |
Kcnab1 |
G |
T |
3: 65,264,435 (GRCm39) |
|
probably benign |
Het |
Mgat4c |
T |
C |
10: 102,224,436 (GRCm39) |
S217P |
probably damaging |
Het |
Mr1 |
T |
C |
1: 155,008,277 (GRCm39) |
M233V |
probably benign |
Het |
Ncoa2 |
G |
A |
1: 13,218,584 (GRCm39) |
T1415I |
probably damaging |
Het |
Oasl2 |
G |
A |
5: 115,049,357 (GRCm39) |
D486N |
probably benign |
Het |
Or1j14 |
A |
T |
2: 36,418,258 (GRCm39) |
Y278F |
probably damaging |
Het |
Or9a7 |
G |
A |
6: 40,521,856 (GRCm39) |
T19I |
probably benign |
Het |
Or9s27 |
T |
C |
1: 92,516,688 (GRCm39) |
I212T |
possibly damaging |
Het |
Pcnx4 |
T |
C |
12: 72,588,587 (GRCm39) |
F132L |
probably damaging |
Het |
Pde5a |
T |
A |
3: 122,636,702 (GRCm39) |
L717Q |
probably damaging |
Het |
Peli2 |
A |
T |
14: 48,465,389 (GRCm39) |
|
probably benign |
Het |
Phf14 |
A |
G |
6: 11,962,657 (GRCm39) |
S435G |
probably damaging |
Het |
Plekhg1 |
T |
A |
10: 3,913,564 (GRCm39) |
H1095Q |
probably damaging |
Het |
Plekhh2 |
A |
G |
17: 84,893,907 (GRCm39) |
|
probably null |
Het |
Plekho1 |
T |
G |
3: 95,899,497 (GRCm39) |
N99H |
probably damaging |
Het |
Plxnc1 |
T |
A |
10: 94,742,395 (GRCm39) |
K457N |
probably benign |
Het |
Ppp1r3a |
T |
C |
6: 14,718,322 (GRCm39) |
E864G |
probably benign |
Het |
Prkab2 |
T |
A |
3: 97,574,715 (GRCm39) |
L237Q |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ptger3 |
T |
A |
3: 157,273,207 (GRCm39) |
C185S |
probably damaging |
Het |
Ptprk |
T |
C |
10: 28,230,709 (GRCm39) |
Y267H |
probably damaging |
Het |
Pum2 |
A |
G |
12: 8,794,654 (GRCm39) |
I715V |
probably benign |
Het |
R3hdm1 |
T |
C |
1: 128,114,573 (GRCm39) |
V518A |
probably damaging |
Het |
Rab3d |
T |
C |
9: 21,827,147 (GRCm39) |
I28V |
probably damaging |
Het |
Rad54b |
T |
C |
4: 11,606,272 (GRCm39) |
L560P |
probably damaging |
Het |
Rgs20 |
A |
G |
1: 5,140,370 (GRCm39) |
|
probably null |
Het |
Sesn1 |
T |
A |
10: 41,781,315 (GRCm39) |
L460H |
probably damaging |
Het |
Slc39a14 |
A |
G |
14: 70,553,885 (GRCm39) |
|
probably null |
Het |
Slco6c1 |
T |
A |
1: 96,990,201 (GRCm39) |
H663L |
probably benign |
Het |
Snx13 |
T |
A |
12: 35,132,926 (GRCm39) |
C63S |
probably benign |
Het |
Spmip4 |
T |
A |
6: 50,560,959 (GRCm39) |
D212V |
probably damaging |
Het |
Strip2 |
T |
C |
6: 29,941,940 (GRCm39) |
|
probably null |
Het |
Syncrip |
A |
G |
9: 88,361,620 (GRCm39) |
|
probably benign |
Het |
Taf15 |
A |
G |
11: 83,395,579 (GRCm39) |
|
probably benign |
Het |
Tbc1d8 |
T |
C |
1: 39,444,368 (GRCm39) |
|
probably null |
Het |
Tgm4 |
T |
A |
9: 122,877,614 (GRCm39) |
C205* |
probably null |
Het |
Tmem212 |
A |
T |
3: 27,940,628 (GRCm39) |
L63Q |
possibly damaging |
Het |
Tmem63a |
G |
A |
1: 180,790,054 (GRCm39) |
|
probably null |
Het |
Trpm5 |
C |
A |
7: 142,636,298 (GRCm39) |
V525L |
probably benign |
Het |
Ttn |
A |
G |
2: 76,537,171 (GRCm39) |
L34919P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,694,619 (GRCm39) |
|
probably benign |
Het |
Tuba4a |
T |
C |
1: 75,194,069 (GRCm39) |
I4V |
possibly damaging |
Het |
Ubr4 |
A |
G |
4: 139,200,853 (GRCm39) |
D4679G |
possibly damaging |
Het |
Usp2 |
T |
G |
9: 44,003,445 (GRCm39) |
V448G |
probably damaging |
Het |
Usp3 |
A |
G |
9: 66,453,024 (GRCm39) |
|
probably null |
Het |
Zfp341 |
T |
A |
2: 154,470,721 (GRCm39) |
V246E |
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 |
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 |
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'- TGGAGAATATGCCATCTCCAAGTG -3'
(R):5'- GTGCTTAGAGACAGTGAAGGCC -3'
Sequencing Primer
(F):5'- TGCCTGCCAGATAATGCTAC -3'
(R):5'- TGAAGGCCAAATGTGACTTTG -3'
|
Posted On |
2014-11-12 |