Incidental Mutation 'R1880:Arhgef5'
| ID |
209031 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef5
|
| Ensembl Gene |
ENSMUSG00000033542 |
| Gene Name |
Rho guanine nucleotide exchange factor (GEF) 5 |
| Synonyms |
2210412D05Rik |
| MMRRC Submission |
039901-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1880 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
43265582-43289320 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 43273088 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 258
(Q258K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031750]
|
| AlphaFold |
E9Q7D5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031750
AA Change: Q258K
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: Q258K
| 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: 97.4%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 93.2%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930021J03Rik |
C |
A |
19: 29,718,123 (GRCm38) |
L1323F |
probably benign |
Het |
| Afdn |
A |
G |
17: 13,852,353 (GRCm38) |
D846G |
possibly damaging |
Het |
| Atp10b |
G |
T |
11: 43,259,432 (GRCm38) |
G1319V |
probably damaging |
Het |
| Axl |
T |
C |
7: 25,774,548 (GRCm38) |
T315A |
probably damaging |
Het |
| Btnl2 |
A |
G |
17: 34,365,363 (GRCm38) |
E420G |
possibly damaging |
Het |
| Capn2 |
A |
G |
1: 182,489,016 (GRCm38) |
W293R |
probably damaging |
Het |
| Cd209f |
A |
G |
8: 4,105,464 (GRCm38) |
|
probably null |
Het |
| Cltc |
A |
G |
11: 86,712,631 (GRCm38) |
Y790H |
probably damaging |
Het |
| Col1a1 |
A |
G |
11: 94,950,568 (GRCm38) |
K1259R |
unknown |
Het |
| Dpysl3 |
A |
T |
18: 43,329,874 (GRCm38) |
|
probably null |
Het |
| Dus4l |
T |
C |
12: 31,640,870 (GRCm38) |
I261V |
probably benign |
Het |
| Ell3 |
T |
C |
2: 121,440,311 (GRCm38) |
D247G |
probably benign |
Het |
| Erg |
G |
A |
16: 95,377,309 (GRCm38) |
T246I |
probably benign |
Het |
| Eva1c |
T |
C |
16: 90,897,415 (GRCm38) |
I196T |
possibly damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,162,515 (GRCm38) |
D182G |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,896,795 (GRCm38) |
|
probably null |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,577,224 (GRCm38) |
|
probably null |
Het |
| Gata4 |
G |
T |
14: 63,204,695 (GRCm38) |
P20Q |
probably damaging |
Het |
| Gm15448 |
C |
T |
7: 3,824,951 (GRCm38) |
|
probably null |
Het |
| Gmnc |
T |
C |
16: 26,965,611 (GRCm38) |
D48G |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,584,273 (GRCm38) |
A113V |
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,317,828 (GRCm38) |
I481V |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,638,900 (GRCm38) |
V3574M |
probably benign |
Het |
| Hnrnpul1 |
A |
G |
7: 25,733,098 (GRCm38) |
V380A |
possibly damaging |
Het |
| Hspa2 |
G |
A |
12: 76,405,920 (GRCm38) |
D463N |
possibly damaging |
Het |
| Itga11 |
A |
G |
9: 62,677,949 (GRCm38) |
D2G |
probably benign |
Het |
| Kel |
G |
A |
6: 41,687,545 (GRCm38) |
L653F |
possibly damaging |
Het |
| Lgr5 |
T |
C |
10: 115,452,279 (GRCm38) |
Y748C |
probably damaging |
Het |
| Lpxn |
A |
G |
19: 12,804,088 (GRCm38) |
K57E |
probably benign |
Het |
| Ltbp2 |
G |
T |
12: 84,829,271 (GRCm38) |
H501N |
probably benign |
Het |
| Macf1 |
G |
A |
4: 123,438,591 (GRCm38) |
A2419V |
probably damaging |
Het |
| Map3k12 |
A |
G |
15: 102,502,064 (GRCm38) |
|
probably null |
Het |
| Megf8 |
G |
A |
7: 25,334,860 (GRCm38) |
V668I |
possibly damaging |
Het |
| Mmp10 |
T |
C |
9: 7,505,574 (GRCm38) |
S280P |
probably benign |
Het |
| Neb |
C |
A |
2: 52,258,731 (GRCm38) |
M2601I |
probably damaging |
Het |
| Nsd1 |
T |
A |
13: 55,213,793 (GRCm38) |
N191K |
probably damaging |
Het |
| Olfr1137 |
C |
A |
2: 87,711,295 (GRCm38) |
G204C |
probably damaging |
Het |
| Olfr263 |
A |
T |
13: 21,133,632 (GRCm38) |
N286Y |
probably damaging |
Het |
| Olfr513 |
T |
C |
7: 108,755,128 (GRCm38) |
S91P |
probably damaging |
Het |
| Olfr807 |
A |
G |
10: 129,755,421 (GRCm38) |
F10L |
probably benign |
Het |
| Patj |
C |
T |
4: 98,497,240 (GRCm38) |
P364S |
probably benign |
Het |
| Pex1 |
T |
C |
5: 3,605,770 (GRCm38) |
V39A |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,525,242 (GRCm38) |
I1332F |
probably benign |
Het |
| Polq |
T |
C |
16: 37,086,592 (GRCm38) |
V2026A |
possibly damaging |
Het |
| Pomt2 |
G |
T |
12: 87,135,596 (GRCm38) |
A219D |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,605,035 (GRCm38) |
Y678N |
possibly damaging |
Het |
| Rpf2 |
T |
C |
10: 40,233,158 (GRCm38) |
D95G |
possibly damaging |
Het |
| Sema3c |
A |
T |
5: 17,727,466 (GRCm38) |
K656* |
probably null |
Het |
| Sema4b |
A |
T |
7: 80,216,792 (GRCm38) |
S207C |
probably damaging |
Het |
| Snap25 |
G |
A |
2: 136,777,385 (GRCm38) |
V153M |
probably damaging |
Het |
| Snrnp70 |
T |
C |
7: 45,377,362 (GRCm38) |
|
probably null |
Het |
| Tas2r144 |
C |
T |
6: 42,216,070 (GRCm38) |
T248I |
probably benign |
Het |
| Trpv4 |
C |
T |
5: 114,623,626 (GRCm38) |
V814M |
probably benign |
Het |
| Usp38 |
T |
C |
8: 81,001,066 (GRCm38) |
E346G |
probably damaging |
Het |
| Vmn1r192 |
G |
T |
13: 22,187,594 (GRCm38) |
A152E |
probably benign |
Het |
| Vmn1r91 |
A |
T |
7: 20,101,773 (GRCm38) |
S206C |
probably damaging |
Het |
| Vps36 |
T |
C |
8: 22,213,562 (GRCm38) |
|
probably null |
Het |
| Wdfy3 |
T |
C |
5: 101,917,435 (GRCm38) |
N1289S |
probably benign |
Het |
| Zfp759 |
T |
C |
13: 67,139,212 (GRCm38) |
C276R |
probably damaging |
Het |
| Zkscan17 |
G |
A |
11: 59,487,629 (GRCm38) |
Q243* |
probably null |
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 |
|
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 |
|
|
R8857:Arhgef5
|
UTSW |
6 |
43,287,624 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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'- TGGAAGTGAACTGCTTAGGC -3'
(R):5'- ACTGAGTGGCTACCCTTCTC -3'
Sequencing Primer
(F):5'- CTTAGGCAGGGGAAACAGCTG -3'
(R):5'- ACCTCCCTGGATTCCTGG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation