Incidental Mutation 'R8857:Arhgef5'
| ID |
675406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef5
|
| Ensembl Gene |
ENSMUSG00000033542 |
| Gene Name |
Rho guanine nucleotide exchange factor (GEF) 5 |
| Synonyms |
2210412D05Rik |
| MMRRC Submission |
068677-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8857 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
43265582-43289320 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43287624 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1523
(V1523A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031750]
|
| AlphaFold |
E9Q7D5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031750
AA Change: V1523A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: V1523A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
98% (65/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
G |
A |
19: 57,130,855 (GRCm38) |
L266F |
possibly damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,197,067 (GRCm38) |
C654* |
probably null |
Het |
| Adgrl1 |
C |
A |
8: 83,931,028 (GRCm38) |
A421D |
probably benign |
Het |
| Adra1b |
C |
G |
11: 43,836,265 (GRCm38) |
|
probably benign |
Het |
| Apba2 |
T |
A |
7: 64,750,191 (GRCm38) |
V710E |
possibly damaging |
Het |
| AW551984 |
G |
C |
9: 39,600,535 (GRCm38) |
A60G |
probably damaging |
Het |
| Bdh1 |
A |
T |
16: 31,446,632 (GRCm38) |
T42S |
probably benign |
Het |
| C130073F10Rik |
G |
A |
4: 101,890,358 (GRCm38) |
P158L |
possibly damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,271,948 (GRCm38) |
K457* |
probably null |
Het |
| Cd3eap |
C |
T |
7: 19,359,430 (GRCm38) |
|
probably benign |
Het |
| Chd3 |
G |
A |
11: 69,362,320 (GRCm38) |
P223L |
probably benign |
Het |
| Cnst |
T |
C |
1: 179,610,313 (GRCm38) |
S481P |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,775,763 (GRCm38) |
K3027N |
unknown |
Het |
| Csf2rb2 |
T |
C |
15: 78,294,413 (GRCm38) |
D111G |
probably null |
Het |
| Disc1 |
A |
C |
8: 125,165,131 (GRCm38) |
E641A |
probably damaging |
Het |
| Fbln5 |
C |
A |
12: 101,760,731 (GRCm38) |
C320F |
probably damaging |
Het |
| Fbn2 |
G |
A |
18: 58,153,861 (GRCm38) |
T242I |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 83,004,043 (GRCm38) |
|
probably benign |
Het |
| Gpsm1 |
G |
C |
2: 26,340,445 (GRCm38) |
G469A |
possibly damaging |
Het |
| Hic1 |
A |
G |
11: 75,165,402 (GRCm38) |
I887T |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,105,661 (GRCm38) |
V692A |
probably damaging |
Het |
| Hsd17b13 |
A |
G |
5: 103,977,197 (GRCm38) |
L40P |
probably damaging |
Het |
| Hydin |
T |
C |
8: 110,571,955 (GRCm38) |
|
probably null |
Het |
| Irf2bpl |
T |
C |
12: 86,882,585 (GRCm38) |
Y438C |
possibly damaging |
Het |
| Itgb4 |
A |
T |
11: 115,981,027 (GRCm38) |
N219I |
probably benign |
Het |
| Knop1 |
T |
C |
7: 118,852,726 (GRCm38) |
K257E |
|
Het |
| Krtap19-5 |
A |
T |
16: 88,896,251 (GRCm38) |
F58I |
unknown |
Het |
| L3mbtl2 |
T |
A |
15: 81,687,119 (GRCm38) |
F709L |
unknown |
Het |
| Map1a |
G |
A |
2: 121,307,617 (GRCm38) |
R2924H |
probably damaging |
Het |
| Mfsd13a |
A |
G |
19: 46,368,128 (GRCm38) |
D224G |
probably benign |
Het |
| Mme |
A |
T |
3: 63,348,649 (GRCm38) |
N510I |
probably damaging |
Het |
| Morc2a |
T |
A |
11: 3,677,484 (GRCm38) |
|
probably null |
Het |
| Mptx2 |
T |
C |
1: 173,274,885 (GRCm38) |
E79G |
probably benign |
Het |
| Nutm1 |
A |
G |
2: 112,251,178 (GRCm38) |
M380T |
probably benign |
Het |
| Olfr209 |
A |
T |
16: 59,361,678 (GRCm38) |
I180N |
probably damaging |
Het |
| P2rx1 |
A |
G |
11: 73,012,371 (GRCm38) |
|
probably benign |
Het |
| Padi4 |
A |
G |
4: 140,774,161 (GRCm38) |
I7T |
probably damaging |
Het |
| Phf20l1 |
T |
C |
15: 66,641,932 (GRCm38) |
S1013P |
probably benign |
Het |
| Plb1 |
T |
C |
5: 32,364,212 (GRCm38) |
V1469A |
unknown |
Het |
| Prkab1 |
T |
C |
5: 116,020,088 (GRCm38) |
N150D |
probably damaging |
Het |
| Qsox1 |
A |
G |
1: 155,782,587 (GRCm38) |
V412A |
possibly damaging |
Het |
| Rai1 |
A |
G |
11: 60,186,567 (GRCm38) |
S486G |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,794,969 (GRCm38) |
Y170* |
probably null |
Het |
| Rims2 |
T |
A |
15: 39,679,648 (GRCm38) |
M1426K |
possibly damaging |
Het |
| Selenoi |
C |
A |
5: 30,256,162 (GRCm38) |
S132* |
probably null |
Het |
| Shtn1 |
T |
C |
19: 58,990,368 (GRCm38) |
I498M |
probably damaging |
Het |
| Sin3b |
T |
C |
8: 72,756,895 (GRCm38) |
M970T |
probably benign |
Het |
| Slc17a8 |
A |
G |
10: 89,591,160 (GRCm38) |
F360L |
probably damaging |
Het |
| Slc7a11 |
A |
G |
3: 50,438,856 (GRCm38) |
Y113H |
probably damaging |
Het |
| Spast |
T |
A |
17: 74,368,943 (GRCm38) |
M327K |
possibly damaging |
Het |
| Sphkap |
T |
A |
1: 83,280,567 (GRCm38) |
I152F |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,216,299 (GRCm38) |
E204G |
possibly damaging |
Het |
| Tiam1 |
A |
T |
16: 89,865,257 (GRCm38) |
S658T |
probably damaging |
Het |
| Tmem174 |
G |
T |
13: 98,636,925 (GRCm38) |
H132Q |
probably damaging |
Het |
| Tnfrsf10b |
G |
A |
14: 69,775,094 (GRCm38) |
V117I |
probably benign |
Het |
| Tnr |
A |
G |
1: 159,886,158 (GRCm38) |
T719A |
probably benign |
Het |
| Tomm34 |
G |
A |
2: 164,054,459 (GRCm38) |
P292S |
probably damaging |
Het |
| Trav15-1-dv6-1 |
T |
A |
14: 53,560,158 (GRCm38) |
F88Y |
probably damaging |
Het |
| Trp63 |
A |
T |
16: 25,820,476 (GRCm38) |
H138L |
probably damaging |
Het |
| U2af2 |
T |
A |
7: 5,062,291 (GRCm38) |
S2T |
probably damaging |
Het |
| Uroc1 |
T |
C |
6: 90,357,528 (GRCm38) |
V574A |
possibly damaging |
Het |
| Zc3h7b |
G |
A |
15: 81,772,480 (GRCm38) |
R166Q |
probably benign |
Het |
| Zfp488 |
A |
C |
14: 33,970,803 (GRCm38) |
S134R |
probably benign |
Het |
| Zfp950 |
T |
C |
19: 61,127,563 (GRCm38) |
D2G |
probably benign |
Het |
| Zfyve1 |
T |
A |
12: 83,551,600 (GRCm38) |
H618L |
probably damaging |
Het |
| Zp1 |
T |
G |
19: 10,916,524 (GRCm38) |
D439A |
probably damaging |
Het |
|
| Other mutations in Arhgef5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Arhgef5
|
APN |
6 |
43,280,269 (GRCm38) |
nonsense |
probably null |
|
|
IGL01341:Arhgef5
|
APN |
6 |
43,283,991 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01576:Arhgef5
|
APN |
6 |
43,274,028 (GRCm38) |
missense |
probably benign |
0.38 |
|
IGL01761:Arhgef5
|
APN |
6 |
43,274,604 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02104:Arhgef5
|
APN |
6 |
43,272,411 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02208:Arhgef5
|
APN |
6 |
43,275,130 (GRCm38) |
missense |
probably benign |
0.11 |
|
IGL02487:Arhgef5
|
APN |
6 |
43,283,982 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02650:Arhgef5
|
APN |
6 |
43,272,935 (GRCm38) |
nonsense |
probably null |
|
|
IGL03292:Arhgef5
|
APN |
6 |
43,280,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03334:Arhgef5
|
APN |
6 |
43,274,000 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL03341:Arhgef5
|
APN |
6 |
43,280,651 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0047:Arhgef5
|
UTSW |
6 |
43,265,621 (GRCm38) |
splice site |
probably null |
|
|
R0206:Arhgef5
|
UTSW |
6 |
43,273,341 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0208:Arhgef5
|
UTSW |
6 |
43,273,341 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0698:Arhgef5
|
UTSW |
6 |
43,273,341 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1145:Arhgef5
|
UTSW |
6 |
43,273,088 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1145:Arhgef5
|
UTSW |
6 |
43,273,088 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1168:Arhgef5
|
UTSW |
6 |
43,273,396 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1355:Arhgef5
|
UTSW |
6 |
43,283,912 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1370:Arhgef5
|
UTSW |
6 |
43,283,912 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1481:Arhgef5
|
UTSW |
6 |
43,274,634 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1529:Arhgef5
|
UTSW |
6 |
43,279,515 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1532:Arhgef5
|
UTSW |
6 |
43,273,403 (GRCm38) |
missense |
probably benign |
|
|
R1663:Arhgef5
|
UTSW |
6 |
43,276,965 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1742:Arhgef5
|
UTSW |
6 |
43,280,199 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1852:Arhgef5
|
UTSW |
6 |
43,275,185 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1869:Arhgef5
|
UTSW |
6 |
43,288,682 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1880:Arhgef5
|
UTSW |
6 |
43,273,088 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R2146:Arhgef5
|
UTSW |
6 |
43,283,318 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2169:Arhgef5
|
UTSW |
6 |
43,274,420 (GRCm38) |
missense |
probably benign |
0.11 |
|
R3412:Arhgef5
|
UTSW |
6 |
43,273,790 (GRCm38) |
missense |
probably benign |
|
|
R4205:Arhgef5
|
UTSW |
6 |
43,273,832 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R4226:Arhgef5
|
UTSW |
6 |
43,279,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4227:Arhgef5
|
UTSW |
6 |
43,279,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4304:Arhgef5
|
UTSW |
6 |
43,279,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4308:Arhgef5
|
UTSW |
6 |
43,279,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4457:Arhgef5
|
UTSW |
6 |
43,274,093 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4469:Arhgef5
|
UTSW |
6 |
43,275,099 (GRCm38) |
missense |
probably benign |
|
|
R4636:Arhgef5
|
UTSW |
6 |
43,274,942 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4791:Arhgef5
|
UTSW |
6 |
43,283,183 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4818:Arhgef5
|
UTSW |
6 |
43,273,550 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4910:Arhgef5
|
UTSW |
6 |
43,272,828 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4911:Arhgef5
|
UTSW |
6 |
43,272,828 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5127:Arhgef5
|
UTSW |
6 |
43,273,214 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5209:Arhgef5
|
UTSW |
6 |
43,273,700 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5245:Arhgef5
|
UTSW |
6 |
43,265,680 (GRCm38) |
start gained |
probably benign |
|
|
R5251:Arhgef5
|
UTSW |
6 |
43,272,881 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R5513:Arhgef5
|
UTSW |
6 |
43,272,339 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5613:Arhgef5
|
UTSW |
6 |
43,274,063 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5616:Arhgef5
|
UTSW |
6 |
43,275,940 (GRCm38) |
missense |
probably benign |
0.20 |
|
R5817:Arhgef5
|
UTSW |
6 |
43,275,104 (GRCm38) |
missense |
probably benign |
0.15 |
|
R6024:Arhgef5
|
UTSW |
6 |
43,275,134 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6735:Arhgef5
|
UTSW |
6 |
43,275,032 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6825:Arhgef5
|
UTSW |
6 |
43,274,961 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6831:Arhgef5
|
UTSW |
6 |
43,280,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6901:Arhgef5
|
UTSW |
6 |
43,273,298 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6932:Arhgef5
|
UTSW |
6 |
43,274,417 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6968:Arhgef5
|
UTSW |
6 |
43,275,342 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7018:Arhgef5
|
UTSW |
6 |
43,288,731 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7180:Arhgef5
|
UTSW |
6 |
43,275,208 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R7201:Arhgef5
|
UTSW |
6 |
43,273,232 (GRCm38) |
nonsense |
probably null |
|
|
R7358:Arhgef5
|
UTSW |
6 |
43,279,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7359:Arhgef5
|
UTSW |
6 |
43,280,282 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7468:Arhgef5
|
UTSW |
6 |
43,280,671 (GRCm38) |
nonsense |
probably null |
|
|
R7503:Arhgef5
|
UTSW |
6 |
43,273,999 (GRCm38) |
missense |
probably benign |
0.15 |
|
R7699:Arhgef5
|
UTSW |
6 |
43,274,757 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7700:Arhgef5
|
UTSW |
6 |
43,274,757 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7737:Arhgef5
|
UTSW |
6 |
43,273,794 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R7847:Arhgef5
|
UTSW |
6 |
43,275,135 (GRCm38) |
nonsense |
probably null |
|
|
R7950:Arhgef5
|
UTSW |
6 |
43,273,925 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R8161:Arhgef5
|
UTSW |
6 |
43,283,951 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8178:Arhgef5
|
UTSW |
6 |
43,275,185 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8203:Arhgef5
|
UTSW |
6 |
43,280,645 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8318:Arhgef5
|
UTSW |
6 |
43,275,999 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9499:Arhgef5
|
UTSW |
6 |
43,284,006 (GRCm38) |
missense |
|
|
|
R9610:Arhgef5
|
UTSW |
6 |
43,280,956 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9611:Arhgef5
|
UTSW |
6 |
43,280,956 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9623:Arhgef5
|
UTSW |
6 |
43,274,802 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R9685:Arhgef5
|
UTSW |
6 |
43,273,593 (GRCm38) |
missense |
probably benign |
0.11 |
|
RF023:Arhgef5
|
UTSW |
6 |
43,279,473 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0028:Arhgef5
|
UTSW |
6 |
43,273,701 (GRCm38) |
missense |
probably benign |
0.03 |
|
X0065:Arhgef5
|
UTSW |
6 |
43,272,408 (GRCm38) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCCCACACTTGTCTTTACCTCATG -3'
(R):5'- TTGGGGACGAAACTGCTCC -3'
Sequencing Primer
(F):5'- GTCTTTACCTCATGTCCTCCCATAC -3'
(R):5'- AGGCCCTTCCTAGAAGCTTAAGTTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation