Incidental Mutation 'R3712:Arhgef26'
| ID |
259648 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef26
|
| Ensembl Gene |
ENSMUSG00000036885 |
| Gene Name |
Rho guanine nucleotide exchange factor 26 |
| Synonyms |
8430436L14Rik, 4631416L12Rik |
| MMRRC Submission |
040705-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R3712 (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 62331050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 588
(D588V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079300]
|
| AlphaFold |
D3YYY8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079300
AA Change: D588V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078281
Gene: ENSMUSG00000036885
AA Change: D588V
| 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: D54V
|
| SMART Domains |
Protein: ENSMUSP00000124392
Gene: ENSMUSG00000036885
AA Change: D54V
| 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 |
0.5694 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (59/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
C |
A |
16: 88,424,411 (GRCm39) |
V27F |
unknown |
Het |
| Akr1c20 |
T |
C |
13: 4,560,222 (GRCm39) |
E152G |
probably damaging |
Het |
| Alx4 |
G |
A |
2: 93,473,134 (GRCm39) |
G44D |
possibly damaging |
Het |
| Arhgap31 |
T |
A |
16: 38,422,895 (GRCm39) |
E1057V |
possibly damaging |
Het |
| Bag2 |
T |
A |
1: 33,785,997 (GRCm39) |
E108D |
probably benign |
Het |
| Ccdc162 |
C |
T |
10: 41,463,375 (GRCm39) |
V183I |
probably benign |
Het |
| Ccdc83 |
A |
G |
7: 89,885,563 (GRCm39) |
|
probably benign |
Het |
| Ccnyl1 |
G |
A |
1: 64,753,827 (GRCm39) |
E137K |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,308,155 (GRCm39) |
T1849A |
probably benign |
Het |
| Cep192 |
C |
A |
18: 67,953,400 (GRCm39) |
D472E |
probably benign |
Het |
| Cep57l1 |
A |
G |
10: 41,619,110 (GRCm39) |
Y86H |
probably damaging |
Het |
| Cep95 |
G |
T |
11: 106,702,112 (GRCm39) |
E370* |
probably null |
Het |
| Cldn10 |
A |
G |
14: 119,092,522 (GRCm39) |
T41A |
probably damaging |
Het |
| Clptm1l |
T |
A |
13: 73,764,157 (GRCm39) |
Y426N |
probably benign |
Het |
| Dipk1b |
T |
C |
2: 26,522,650 (GRCm39) |
L33S |
possibly damaging |
Het |
| Eps15 |
T |
C |
4: 109,166,374 (GRCm39) |
V89A |
probably damaging |
Het |
| Fam53b |
A |
G |
7: 132,361,654 (GRCm39) |
S125P |
probably damaging |
Het |
| Fbxo44 |
A |
T |
4: 148,240,461 (GRCm39) |
W256R |
probably benign |
Het |
| Gnl2 |
T |
C |
4: 124,940,067 (GRCm39) |
V313A |
probably damaging |
Het |
| Hyal4 |
A |
G |
6: 24,756,513 (GRCm39) |
R244G |
probably damaging |
Het |
| Irf6 |
G |
T |
1: 192,844,931 (GRCm39) |
W134L |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,371,448 (GRCm39) |
T286A |
probably damaging |
Het |
| Lpcat2 |
T |
C |
8: 93,644,798 (GRCm39) |
V529A |
possibly damaging |
Het |
| Lrfn2 |
A |
G |
17: 49,378,188 (GRCm39) |
E423G |
possibly damaging |
Het |
| Lrp8 |
G |
T |
4: 107,705,499 (GRCm39) |
R209L |
probably benign |
Het |
| Mgll |
T |
C |
6: 88,741,570 (GRCm39) |
|
probably benign |
Het |
| Mix23 |
T |
C |
16: 35,901,775 (GRCm39) |
|
probably null |
Het |
| Mta3 |
A |
G |
17: 84,070,417 (GRCm39) |
I193V |
probably damaging |
Het |
| Nedd4l |
G |
A |
18: 65,342,790 (GRCm39) |
V909I |
possibly damaging |
Het |
| Or10al5 |
T |
A |
17: 38,063,271 (GRCm39) |
C175* |
probably null |
Het |
| Or3a1d |
A |
T |
11: 74,238,023 (GRCm39) |
I129N |
probably damaging |
Het |
| Or5p66 |
A |
T |
7: 107,885,663 (GRCm39) |
Y223* |
probably null |
Het |
| Or6c206 |
A |
T |
10: 129,097,093 (GRCm39) |
K88* |
probably null |
Het |
| Orc1 |
T |
C |
4: 108,461,218 (GRCm39) |
V526A |
probably damaging |
Het |
| Pard3b |
T |
C |
1: 62,383,137 (GRCm39) |
S744P |
probably damaging |
Het |
| Pcnx3 |
G |
A |
19: 5,733,367 (GRCm39) |
Q155* |
probably null |
Het |
| Pcnx3 |
C |
G |
19: 5,733,368 (GRCm39) |
L1F |
probably null |
Het |
| Pdcd11 |
T |
A |
19: 47,115,684 (GRCm39) |
|
probably benign |
Het |
| Pi4k2a |
G |
A |
19: 42,079,131 (GRCm39) |
R64Q |
probably damaging |
Het |
| Pigt |
A |
G |
2: 164,343,565 (GRCm39) |
D347G |
probably benign |
Het |
| Rbm27 |
T |
C |
18: 42,425,177 (GRCm39) |
|
probably benign |
Het |
| Rpl7a-ps10 |
A |
G |
9: 97,061,926 (GRCm39) |
E232G |
probably damaging |
Het |
| Rprd2 |
A |
G |
3: 95,671,872 (GRCm39) |
L1177P |
probably damaging |
Het |
| Rrn3 |
T |
A |
16: 13,601,959 (GRCm39) |
L71* |
probably null |
Het |
| Sbspon |
A |
G |
1: 15,962,669 (GRCm39) |
C70R |
probably damaging |
Het |
| Smtn |
A |
T |
11: 3,482,865 (GRCm39) |
|
probably null |
Het |
| Son |
A |
G |
16: 91,453,614 (GRCm39) |
D787G |
probably damaging |
Het |
| Sphkap |
C |
T |
1: 83,254,833 (GRCm39) |
S972N |
probably benign |
Het |
| Spopl |
C |
T |
2: 23,427,392 (GRCm39) |
R221Q |
probably damaging |
Het |
| Srp14 |
A |
C |
2: 118,309,440 (GRCm39) |
L58V |
probably null |
Het |
| Sun2 |
A |
G |
15: 79,612,114 (GRCm39) |
S522P |
possibly damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Trdn |
T |
C |
10: 33,033,162 (GRCm39) |
I129T |
probably benign |
Het |
| Trpv3 |
A |
G |
11: 73,169,780 (GRCm39) |
K117R |
probably benign |
Het |
| Ubqlnl |
A |
T |
7: 103,798,345 (GRCm39) |
I384N |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,542,489 (GRCm39) |
G3352S |
probably benign |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,637 (GRCm39) |
I41K |
probably damaging |
Het |
| Vmn2r125 |
T |
A |
4: 156,702,419 (GRCm39) |
Y68* |
probably null |
Het |
| Zpld1 |
A |
T |
16: 55,046,799 (GRCm39) |
L390* |
probably null |
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 |
|
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'- ACCGACCTGTGTATTTGGTAATGTG -3'
(R):5'- TGTGGGTAATGTTTCACCAGAG -3'
Sequencing Primer
(F):5'- GCTTTTAGGCTCGCAAAAGAC -3'
(R):5'- AGAGTGACCACACAAGTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation