Incidental Mutation 'R0157:Arhgef26'
| ID |
22895 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef26
|
| Ensembl Gene |
ENSMUSG00000036885 |
| Gene Name |
Rho guanine nucleotide exchange factor 26 |
| Synonyms |
8430436L14Rik, 4631416L12Rik |
| MMRRC Submission |
038437-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R0157 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
3 |
| Chromosomal Location |
62245765-62369642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 62288392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 487
(D487E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079300]
|
| AlphaFold |
D3YYY8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079300
AA Change: D487E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078281
Gene: ENSMUSG00000036885
AA Change: D487E
| 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
|
| Meta Mutation Damage Score |
0.1392 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.5%
|
| Validation Efficiency |
64% (47/73) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adap2 |
T |
A |
11: 80,056,527 (GRCm39) |
I180N |
probably damaging |
Het |
| Alk |
T |
A |
17: 72,256,840 (GRCm39) |
N673I |
probably benign |
Het |
| Ankrd7 |
T |
C |
6: 18,866,539 (GRCm39) |
S20P |
probably damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,845,475 (GRCm39) |
D1500G |
probably damaging |
Het |
| Arhgef7 |
A |
G |
8: 11,835,812 (GRCm39) |
I39V |
probably damaging |
Het |
| Asap2 |
T |
A |
12: 21,256,326 (GRCm39) |
I208N |
probably damaging |
Het |
| Atad5 |
T |
C |
11: 79,980,643 (GRCm39) |
V16A |
possibly damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,835,809 (GRCm39) |
I518T |
probably damaging |
Het |
| B130006D01Rik |
T |
C |
11: 95,617,211 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
A |
G |
3: 95,792,280 (GRCm39) |
|
probably null |
Het |
| Bpifb6 |
T |
A |
2: 153,745,886 (GRCm39) |
L74Q |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,965,484 (GRCm39) |
T1122A |
possibly damaging |
Het |
| Cacna2d4 |
T |
A |
6: 119,289,385 (GRCm39) |
D806E |
probably benign |
Het |
| Cdhr3 |
T |
C |
12: 33,111,649 (GRCm39) |
Q287R |
possibly damaging |
Het |
| Cdk12 |
A |
G |
11: 98,140,602 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
T |
A |
1: 189,384,556 (GRCm39) |
T2575S |
probably benign |
Het |
| Chd7 |
T |
A |
4: 8,833,759 (GRCm39) |
I1171N |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,735,464 (GRCm39) |
|
probably null |
Het |
| Ckmt1 |
A |
G |
2: 121,193,522 (GRCm39) |
T361A |
possibly damaging |
Het |
| Clec4d |
G |
T |
6: 123,244,095 (GRCm39) |
R68L |
probably benign |
Het |
| Csmd2 |
G |
T |
4: 128,415,704 (GRCm39) |
V2678F |
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,964,761 (GRCm39) |
V131E |
possibly damaging |
Het |
| Dab2 |
T |
C |
15: 6,459,308 (GRCm39) |
S407P |
probably benign |
Het |
| Dnah17 |
C |
T |
11: 118,017,997 (GRCm39) |
G166D |
probably benign |
Het |
| F13b |
G |
A |
1: 139,431,585 (GRCm39) |
V52I |
probably benign |
Het |
| Gjd4 |
T |
C |
18: 9,280,549 (GRCm39) |
I176M |
probably benign |
Het |
| Hoxc11 |
A |
G |
15: 102,863,436 (GRCm39) |
Y159C |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,026,642 (GRCm39) |
I120T |
possibly damaging |
Het |
| Il20rb |
A |
G |
9: 100,355,132 (GRCm39) |
Y104H |
probably damaging |
Het |
| Krtap21-1 |
A |
G |
16: 89,200,430 (GRCm39) |
C71R |
unknown |
Het |
| Lamc1 |
T |
C |
1: 153,138,353 (GRCm39) |
D167G |
probably benign |
Het |
| Lin7c |
C |
A |
2: 109,725,514 (GRCm39) |
A73E |
probably damaging |
Het |
| Meiosin |
T |
C |
7: 18,840,945 (GRCm39) |
H63R |
possibly damaging |
Het |
| Mms22l |
C |
A |
4: 24,588,224 (GRCm39) |
A952E |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,973,735 (GRCm39) |
N136S |
probably benign |
Het |
| Ndufb10 |
T |
C |
17: 24,943,218 (GRCm39) |
T31A |
probably benign |
Het |
| Nlrp2 |
T |
C |
7: 5,311,769 (GRCm39) |
Y37C |
possibly damaging |
Het |
| Or2t44 |
T |
C |
11: 58,677,885 (GRCm39) |
F275S |
probably damaging |
Het |
| Or2y14 |
T |
C |
11: 49,404,600 (GRCm39) |
I45T |
probably damaging |
Het |
| Orc3 |
C |
A |
4: 34,607,130 (GRCm39) |
|
probably null |
Het |
| Pard3b |
A |
C |
1: 62,250,792 (GRCm39) |
M512L |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,334,136 (GRCm39) |
D150G |
probably damaging |
Het |
| Pcolce |
A |
T |
5: 137,608,741 (GRCm39) |
|
probably null |
Het |
| Pdcl |
A |
C |
2: 37,242,189 (GRCm39) |
I187S |
probably damaging |
Het |
| Pkn1 |
T |
C |
8: 84,419,449 (GRCm39) |
I51M |
probably damaging |
Het |
| Pla2g4e |
T |
A |
2: 120,000,662 (GRCm39) |
T692S |
probably benign |
Het |
| Plcb2 |
C |
A |
2: 118,549,022 (GRCm39) |
V380F |
probably damaging |
Het |
| Pmpcb |
A |
T |
5: 21,947,950 (GRCm39) |
I218F |
probably damaging |
Het |
| Pms1 |
A |
T |
1: 53,234,196 (GRCm39) |
Y773* |
probably null |
Het |
| Polr2e |
C |
T |
10: 79,872,615 (GRCm39) |
G184R |
probably damaging |
Het |
| Polr3a |
T |
C |
14: 24,529,254 (GRCm39) |
I369V |
probably damaging |
Het |
| Pramel21 |
C |
T |
4: 143,342,366 (GRCm39) |
P158S |
probably damaging |
Het |
| Prpf4b |
T |
C |
13: 35,068,014 (GRCm39) |
|
probably benign |
Het |
| Pzp |
G |
A |
6: 128,500,939 (GRCm39) |
Q140* |
probably null |
Het |
| Qrich2 |
T |
A |
11: 116,332,221 (GRCm39) |
E2325V |
probably damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,307,858 (GRCm39) |
L373R |
probably damaging |
Het |
| Sema3d |
A |
T |
5: 12,558,104 (GRCm39) |
D212V |
possibly damaging |
Het |
| Sidt2 |
A |
G |
9: 45,850,565 (GRCm39) |
I850T |
probably damaging |
Het |
| Slc22a29 |
C |
T |
19: 8,140,106 (GRCm39) |
R433H |
possibly damaging |
Het |
| Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
| Sox21 |
G |
A |
14: 118,473,354 (GRCm39) |
|
probably benign |
Het |
| Steap3 |
A |
G |
1: 120,155,379 (GRCm39) |
*527R |
probably null |
Het |
| Svep1 |
T |
C |
4: 58,069,830 (GRCm39) |
E2652G |
possibly damaging |
Het |
| Taar2 |
T |
A |
10: 23,817,389 (GRCm39) |
F310I |
probably damaging |
Het |
| Tasor2 |
C |
A |
13: 3,625,550 (GRCm39) |
V1467L |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,286,307 (GRCm39) |
V783A |
probably benign |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,822 (GRCm39) |
I19N |
probably damaging |
Het |
| Vwa5b1 |
T |
A |
4: 138,332,190 (GRCm39) |
M276L |
probably benign |
Het |
| Yeats2 |
A |
C |
16: 20,040,427 (GRCm39) |
*142C |
probably null |
Het |
| Zfp26 |
G |
T |
9: 20,349,166 (GRCm39) |
T466K |
probably benign |
Het |
| Zfp426 |
T |
C |
9: 20,382,432 (GRCm39) |
N171S |
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 |
|
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 |
|
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'- TTCCCATGCCATTCCTGTAGACAAC -3'
(R):5'- CTCCCTGCTGAGACAAGTAGCAAG -3'
Sequencing Primer
(F):5'- TTCCTGTAGACAACAGTGGAGC -3'
(R):5'- TGCTGACTATCTAAATGGGCCAC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation