Incidental Mutation 'R1168:Arhgef5'
| ID |
101294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef5
|
| Ensembl Gene |
ENSMUSG00000033542 |
| Gene Name |
Rho guanine nucleotide exchange factor 5 |
| Synonyms |
2210412D05Rik |
| MMRRC Submission |
039241-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1168 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
43242578-43266254 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43250330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 360
(H360Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031750]
|
| AlphaFold |
E9Q7D5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031750
AA Change: H360Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: H360Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ARHGEF5_35
|
1 |
477 |
3.1e-220 |
PFAM |
|
low complexity region
|
509 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
812 |
825 |
N/A |
INTRINSIC |
|
low complexity region
|
827 |
851 |
N/A |
INTRINSIC |
|
RhoGEF
|
1162 |
1341 |
2.97e-57 |
SMART |
|
PH
|
1375 |
1488 |
1.11e-6 |
SMART |
|
SH3
|
1497 |
1554 |
6.39e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182924
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183227
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203387
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.2%
- 20x: 88.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased Th2 response in an ovalbumin-induced asthma model. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,773,661 (GRCm39) |
V950A |
probably benign |
Het |
| Adgrb3 |
A |
T |
1: 25,865,280 (GRCm39) |
S188T |
probably benign |
Het |
| Ahr |
A |
T |
12: 35,554,531 (GRCm39) |
N529K |
possibly damaging |
Het |
| Akr1c21 |
A |
G |
13: 4,633,836 (GRCm39) |
N302D |
probably benign |
Het |
| Aldh8a1 |
T |
A |
10: 21,260,530 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
A |
T |
7: 80,753,105 (GRCm39) |
K1554M |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,306,130 (GRCm39) |
I1293V |
probably damaging |
Het |
| Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
| Cd200r4 |
T |
A |
16: 44,653,307 (GRCm39) |
W72R |
probably damaging |
Het |
| Ces2e |
A |
T |
8: 105,653,646 (GRCm39) |
D28V |
possibly damaging |
Het |
| Cfap20dc |
T |
C |
14: 8,442,939 (GRCm38) |
N610S |
probably benign |
Het |
| Cfap45 |
T |
C |
1: 172,373,264 (GRCm39) |
Y534H |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,773,782 (GRCm39) |
C87S |
probably damaging |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Chrna4 |
T |
A |
2: 180,675,931 (GRCm39) |
M67L |
possibly damaging |
Het |
| Cplx3 |
G |
A |
9: 57,515,595 (GRCm39) |
R427C |
probably benign |
Het |
| Cts7 |
T |
A |
13: 61,501,631 (GRCm39) |
N290Y |
probably damaging |
Het |
| Enpp6 |
A |
T |
8: 47,483,489 (GRCm39) |
M94L |
probably damaging |
Het |
| Fam83d |
C |
T |
2: 158,610,443 (GRCm39) |
A137V |
probably benign |
Het |
| Foxd2 |
C |
T |
4: 114,764,875 (GRCm39) |
A382T |
possibly damaging |
Het |
| Galnt11 |
T |
G |
5: 25,455,244 (GRCm39) |
S193R |
probably damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,594,481 (GRCm39) |
D856E |
probably damaging |
Het |
| Gclm |
T |
A |
3: 122,056,337 (GRCm39) |
H86Q |
possibly damaging |
Het |
| Gipc2 |
T |
C |
3: 151,813,634 (GRCm39) |
T220A |
probably benign |
Het |
| Gm12185 |
G |
T |
11: 48,806,182 (GRCm39) |
N336K |
possibly damaging |
Het |
| Gm5431 |
A |
T |
11: 48,786,191 (GRCm39) |
S61R |
probably benign |
Het |
| Gorasp2 |
C |
T |
2: 70,518,744 (GRCm39) |
P260S |
probably damaging |
Het |
| H2-M10.6 |
A |
G |
17: 37,124,052 (GRCm39) |
Q172R |
probably benign |
Het |
| Ibsp |
A |
G |
5: 104,450,018 (GRCm39) |
I6V |
probably damaging |
Het |
| Iqsec1 |
T |
C |
6: 90,666,658 (GRCm39) |
Y593C |
probably damaging |
Het |
| Irag1 |
T |
C |
7: 110,495,138 (GRCm39) |
K429R |
probably damaging |
Het |
| Itln1 |
G |
T |
1: 171,359,119 (GRCm39) |
Y61* |
probably null |
Het |
| Kif21a |
G |
A |
15: 90,877,956 (GRCm39) |
T284I |
probably damaging |
Het |
| Kif3a |
G |
A |
11: 53,489,139 (GRCm39) |
G621R |
probably damaging |
Het |
| Klb |
A |
G |
5: 65,536,317 (GRCm39) |
Y549C |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,509,776 (GRCm39) |
|
probably benign |
Het |
| Map4 |
T |
C |
9: 109,864,032 (GRCm39) |
V419A |
probably benign |
Het |
| Mastl |
A |
T |
2: 23,023,144 (GRCm39) |
D526E |
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,486,914 (GRCm39) |
D308G |
probably benign |
Het |
| Ncald |
A |
G |
15: 37,397,578 (GRCm39) |
F34S |
probably damaging |
Het |
| Ndc1 |
A |
G |
4: 107,253,009 (GRCm39) |
T593A |
probably benign |
Het |
| Ndst3 |
C |
T |
3: 123,400,617 (GRCm39) |
V15I |
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,915,313 (GRCm39) |
N1166D |
probably benign |
Het |
| Or1a1 |
A |
G |
11: 74,087,247 (GRCm39) |
H306R |
probably benign |
Het |
| Or2ad1 |
A |
G |
13: 21,326,787 (GRCm39) |
S147P |
probably benign |
Het |
| Or4a68 |
G |
A |
2: 89,270,213 (GRCm39) |
Q137* |
probably null |
Het |
| Or5m8 |
A |
T |
2: 85,823,028 (GRCm39) |
Y289F |
probably damaging |
Het |
| Pcdhb8 |
T |
C |
18: 37,489,780 (GRCm39) |
I486T |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,668,152 (GRCm39) |
Y768F |
probably benign |
Het |
| Pgf |
A |
G |
12: 85,218,541 (GRCm39) |
S70P |
probably benign |
Het |
| Plcl2 |
G |
A |
17: 50,914,100 (GRCm39) |
A370T |
possibly damaging |
Het |
| Pnkp |
T |
A |
7: 44,511,961 (GRCm39) |
W115R |
probably benign |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Prag1 |
A |
G |
8: 36,613,799 (GRCm39) |
E1117G |
probably damaging |
Het |
| Prr12 |
T |
A |
7: 44,678,471 (GRCm39) |
Q1919L |
unknown |
Het |
| Ret |
G |
T |
6: 118,150,519 (GRCm39) |
H666N |
possibly damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,745,184 (GRCm39) |
G864S |
probably damaging |
Het |
| Rpa2 |
T |
G |
4: 132,499,171 (GRCm39) |
I80S |
probably damaging |
Het |
| Ryk |
A |
T |
9: 102,775,674 (GRCm39) |
D428V |
probably damaging |
Het |
| Slc29a1 |
A |
T |
17: 45,901,204 (GRCm39) |
N30K |
probably damaging |
Het |
| Stbd1 |
A |
G |
5: 92,752,795 (GRCm39) |
N95S |
probably benign |
Het |
| Tbc1d22a |
A |
G |
15: 86,176,335 (GRCm39) |
E212G |
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,427,568 (GRCm39) |
T7A |
probably benign |
Het |
| Tmc8 |
T |
C |
11: 117,683,389 (GRCm39) |
V648A |
possibly damaging |
Het |
| Tmem132b |
G |
T |
5: 125,864,083 (GRCm39) |
V730F |
probably damaging |
Het |
| Tmub2 |
G |
A |
11: 102,178,196 (GRCm39) |
G33D |
possibly damaging |
Het |
| Trak1 |
G |
A |
9: 121,269,745 (GRCm39) |
D124N |
probably damaging |
Het |
| Ttc28 |
A |
T |
5: 111,378,977 (GRCm39) |
Y1154F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,739,713 (GRCm39) |
T3609A |
probably benign |
Het |
| Tulp2 |
A |
G |
7: 45,167,266 (GRCm39) |
T99A |
probably benign |
Het |
| Ugt2a2 |
A |
T |
5: 87,613,427 (GRCm39) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,410,608 (GRCm39) |
V2419I |
probably benign |
Het |
| Vill |
C |
A |
9: 118,899,389 (GRCm39) |
P343Q |
probably damaging |
Het |
| Vmn2r66 |
T |
A |
7: 84,656,062 (GRCm39) |
H318L |
possibly damaging |
Het |
| Wdr3 |
A |
C |
3: 100,049,535 (GRCm39) |
N800K |
probably benign |
Het |
| Wdr93 |
A |
G |
7: 79,398,922 (GRCm39) |
K19E |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,806,436 (GRCm39) |
S333P |
probably damaging |
Het |
| Zfp418 |
T |
C |
7: 7,185,500 (GRCm39) |
S488P |
possibly damaging |
Het |
| Zfp804a |
A |
G |
2: 82,087,041 (GRCm39) |
E290G |
probably benign |
Het |
|
| Other mutations in Arhgef5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Arhgef5
|
APN |
6 |
43,257,203 (GRCm39) |
nonsense |
probably null |
|
|
IGL01341:Arhgef5
|
APN |
6 |
43,260,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01576:Arhgef5
|
APN |
6 |
43,250,962 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL01761:Arhgef5
|
APN |
6 |
43,251,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02104:Arhgef5
|
APN |
6 |
43,249,345 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02208:Arhgef5
|
APN |
6 |
43,252,064 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02487:Arhgef5
|
APN |
6 |
43,260,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02650:Arhgef5
|
APN |
6 |
43,249,869 (GRCm39) |
nonsense |
probably null |
|
|
IGL03292:Arhgef5
|
APN |
6 |
43,257,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03334:Arhgef5
|
APN |
6 |
43,250,934 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL03341:Arhgef5
|
APN |
6 |
43,257,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0047:Arhgef5
|
UTSW |
6 |
43,242,555 (GRCm39) |
splice site |
probably null |
|
|
R0206:Arhgef5
|
UTSW |
6 |
43,250,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0208:Arhgef5
|
UTSW |
6 |
43,250,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0698:Arhgef5
|
UTSW |
6 |
43,250,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1145:Arhgef5
|
UTSW |
6 |
43,250,022 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1145:Arhgef5
|
UTSW |
6 |
43,250,022 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1355:Arhgef5
|
UTSW |
6 |
43,260,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1370:Arhgef5
|
UTSW |
6 |
43,260,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1481:Arhgef5
|
UTSW |
6 |
43,251,568 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1529:Arhgef5
|
UTSW |
6 |
43,256,449 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1532:Arhgef5
|
UTSW |
6 |
43,250,337 (GRCm39) |
missense |
probably benign |
|
|
R1663:Arhgef5
|
UTSW |
6 |
43,253,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1742:Arhgef5
|
UTSW |
6 |
43,257,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1852:Arhgef5
|
UTSW |
6 |
43,252,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1869:Arhgef5
|
UTSW |
6 |
43,265,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1880:Arhgef5
|
UTSW |
6 |
43,250,022 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2146:Arhgef5
|
UTSW |
6 |
43,260,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2169:Arhgef5
|
UTSW |
6 |
43,251,354 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3412:Arhgef5
|
UTSW |
6 |
43,250,724 (GRCm39) |
missense |
probably benign |
|
|
R4205:Arhgef5
|
UTSW |
6 |
43,250,766 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4226:Arhgef5
|
UTSW |
6 |
43,256,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4227:Arhgef5
|
UTSW |
6 |
43,256,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4304:Arhgef5
|
UTSW |
6 |
43,256,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4308:Arhgef5
|
UTSW |
6 |
43,256,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4457:Arhgef5
|
UTSW |
6 |
43,251,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4469:Arhgef5
|
UTSW |
6 |
43,252,033 (GRCm39) |
missense |
probably benign |
|
|
R4636:Arhgef5
|
UTSW |
6 |
43,251,876 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4791:Arhgef5
|
UTSW |
6 |
43,260,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4818:Arhgef5
|
UTSW |
6 |
43,250,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4910:Arhgef5
|
UTSW |
6 |
43,249,762 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4911:Arhgef5
|
UTSW |
6 |
43,249,762 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5127:Arhgef5
|
UTSW |
6 |
43,250,148 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5209:Arhgef5
|
UTSW |
6 |
43,250,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5245:Arhgef5
|
UTSW |
6 |
43,242,614 (GRCm39) |
start gained |
probably benign |
|
|
R5251:Arhgef5
|
UTSW |
6 |
43,249,815 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5513:Arhgef5
|
UTSW |
6 |
43,249,273 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5613:Arhgef5
|
UTSW |
6 |
43,250,997 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5616:Arhgef5
|
UTSW |
6 |
43,252,874 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5817:Arhgef5
|
UTSW |
6 |
43,252,038 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6024:Arhgef5
|
UTSW |
6 |
43,252,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6735:Arhgef5
|
UTSW |
6 |
43,251,966 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6825:Arhgef5
|
UTSW |
6 |
43,251,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6831:Arhgef5
|
UTSW |
6 |
43,257,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6901:Arhgef5
|
UTSW |
6 |
43,250,232 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6932:Arhgef5
|
UTSW |
6 |
43,251,351 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6968:Arhgef5
|
UTSW |
6 |
43,252,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7018:Arhgef5
|
UTSW |
6 |
43,265,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Arhgef5
|
UTSW |
6 |
43,252,142 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7201:Arhgef5
|
UTSW |
6 |
43,250,166 (GRCm39) |
nonsense |
probably null |
|
|
R7358:Arhgef5
|
UTSW |
6 |
43,256,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7359:Arhgef5
|
UTSW |
6 |
43,257,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7468:Arhgef5
|
UTSW |
6 |
43,257,605 (GRCm39) |
nonsense |
probably null |
|
|
R7503:Arhgef5
|
UTSW |
6 |
43,250,933 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7699:Arhgef5
|
UTSW |
6 |
43,251,691 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7700:Arhgef5
|
UTSW |
6 |
43,251,691 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7737:Arhgef5
|
UTSW |
6 |
43,250,728 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7847:Arhgef5
|
UTSW |
6 |
43,252,069 (GRCm39) |
nonsense |
probably null |
|
|
R7950:Arhgef5
|
UTSW |
6 |
43,250,859 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8161:Arhgef5
|
UTSW |
6 |
43,260,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8178:Arhgef5
|
UTSW |
6 |
43,252,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8203:Arhgef5
|
UTSW |
6 |
43,257,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8318:Arhgef5
|
UTSW |
6 |
43,252,933 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8857:Arhgef5
|
UTSW |
6 |
43,264,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9499:Arhgef5
|
UTSW |
6 |
43,260,940 (GRCm39) |
missense |
|
|
|
R9610:Arhgef5
|
UTSW |
6 |
43,257,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9611:Arhgef5
|
UTSW |
6 |
43,257,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9623:Arhgef5
|
UTSW |
6 |
43,251,736 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9685:Arhgef5
|
UTSW |
6 |
43,250,527 (GRCm39) |
missense |
probably benign |
0.11 |
|
RF023:Arhgef5
|
UTSW |
6 |
43,256,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Arhgef5
|
UTSW |
6 |
43,250,635 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0065:Arhgef5
|
UTSW |
6 |
43,249,342 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation