Incidental Mutation 'R7737:Arhgef5'
| ID |
596315 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef5
|
| Ensembl Gene |
ENSMUSG00000033542 |
| Gene Name |
Rho guanine nucleotide exchange factor (GEF) 5 |
| Synonyms |
2210412D05Rik |
| MMRRC Submission |
045793-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7737 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
43265582-43289320 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43273794 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 493
(E493G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031750]
|
| AlphaFold |
E9Q7D5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031750
AA Change: E493G
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: E493G
| 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
|
| Meta Mutation Damage Score |
0.1007 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410141K09Rik |
A |
G |
13: 66,433,677 (GRCm38) |
|
probably null |
Het |
| 9530053A07Rik |
T |
A |
7: 28,157,073 (GRCm38) |
V2095E |
probably damaging |
Het |
| Adamts18 |
A |
T |
8: 113,736,934 (GRCm38) |
|
probably null |
Het |
| Akap3 |
T |
A |
6: 126,874,102 (GRCm38) |
M861K |
probably damaging |
Het |
| Ankrd42 |
T |
C |
7: 92,605,262 (GRCm38) |
T380A |
possibly damaging |
Het |
| Armc4 |
A |
G |
18: 7,217,890 (GRCm38) |
L608P |
probably damaging |
Het |
| Arvcf |
G |
A |
16: 18,397,101 (GRCm38) |
R119Q |
probably damaging |
Het |
| Asmt |
T |
C |
X: 170,676,440 (GRCm38) |
F228S |
probably damaging |
Het |
| Atp2c2 |
T |
A |
8: 119,742,395 (GRCm38) |
V349E |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,241,673 (GRCm38) |
V233A |
possibly damaging |
Het |
| Brinp3 |
G |
T |
1: 146,682,594 (GRCm38) |
K85N |
probably damaging |
Het |
| Ccr6 |
G |
A |
17: 8,245,094 (GRCm38) |
|
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 134,270,201 (GRCm38) |
S644P |
probably damaging |
Het |
| Ddb1 |
C |
T |
19: 10,625,974 (GRCm38) |
A882V |
possibly damaging |
Het |
| Epha4 |
C |
T |
1: 77,381,012 (GRCm38) |
G783D |
probably damaging |
Het |
| Ephb1 |
T |
A |
9: 101,984,103 (GRCm38) |
I621F |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,701,263 (GRCm38) |
Y93* |
probably null |
Het |
| Gak |
A |
C |
5: 108,617,008 (GRCm38) |
L84R |
probably benign |
Het |
| Gm21671 |
AACT |
A |
5: 25,950,851 (GRCm38) |
|
probably benign |
Het |
| Gm5458 |
A |
T |
14: 19,599,737 (GRCm38) |
|
probably null |
Het |
| Gpatch3 |
C |
G |
4: 133,575,096 (GRCm38) |
Q113E |
probably benign |
Het |
| Gpld1 |
C |
A |
13: 24,975,726 (GRCm38) |
L426M |
probably damaging |
Het |
| Ighmbp2 |
G |
A |
19: 3,274,467 (GRCm38) |
P234S |
unknown |
Het |
| Itga6 |
G |
A |
2: 71,822,443 (GRCm38) |
V217I |
probably benign |
Het |
| Kdm7a |
A |
T |
6: 39,144,404 (GRCm38) |
N872K |
probably benign |
Het |
| Klhl14 |
G |
T |
18: 21,558,134 (GRCm38) |
Y446* |
probably null |
Het |
| Larp4b |
T |
A |
13: 9,170,643 (GRCm38) |
|
probably null |
Het |
| Lct |
A |
T |
1: 128,298,693 (GRCm38) |
W1320R |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,496,438 (GRCm38) |
D1763G |
possibly damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,815,446 (GRCm38) |
N2499Y |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,581,185 (GRCm38) |
|
probably null |
Het |
| Mettl15 |
T |
C |
2: 109,137,378 (GRCm38) |
K188E |
probably damaging |
Het |
| Mfsd4b1 |
A |
G |
10: 40,003,278 (GRCm38) |
S208P |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,135,381 (GRCm38) |
S793P |
possibly damaging |
Het |
| Ms4a14 |
G |
A |
19: 11,302,786 (GRCm38) |
Q803* |
probably null |
Het |
| Mtor |
A |
C |
4: 148,538,738 (GRCm38) |
E2015A |
possibly damaging |
Het |
| Myo15b |
A |
T |
11: 115,887,923 (GRCm38) |
Y2581F |
unknown |
Het |
| Myo7b |
A |
T |
18: 32,014,204 (GRCm38) |
Y95* |
probably null |
Het |
| Nf1 |
A |
G |
11: 79,545,488 (GRCm38) |
I1985V |
probably benign |
Het |
| Noxred1 |
G |
A |
12: 87,221,362 (GRCm38) |
Q332* |
probably null |
Het |
| Nudt21 |
A |
T |
8: 94,022,833 (GRCm38) |
Y202N |
probably damaging |
Het |
| Olfr345 |
A |
T |
2: 36,640,620 (GRCm38) |
I194F |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 116,356,253 (GRCm38) |
S1176T |
probably damaging |
Het |
| Pramef17 |
A |
C |
4: 143,991,956 (GRCm38) |
S306A |
possibly damaging |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,457,541 (GRCm38) |
|
probably benign |
Het |
| Rbmxl1 |
A |
G |
8: 78,505,623 (GRCm38) |
S364P |
unknown |
Het |
| Rnf24 |
T |
A |
2: 131,303,496 (GRCm38) |
K131N |
probably benign |
Het |
| Scai |
T |
A |
2: 39,123,022 (GRCm38) |
Q132L |
probably damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,723,953 (GRCm38) |
R49G |
probably benign |
Het |
| Slc12a7 |
A |
G |
13: 73,788,677 (GRCm38) |
E152G |
probably benign |
Het |
| Slc22a27 |
A |
T |
19: 7,896,762 (GRCm38) |
M316K |
probably damaging |
Het |
| Spag1 |
G |
T |
15: 36,210,710 (GRCm38) |
A427S |
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm38) |
|
probably benign |
Het |
| Stk16 |
G |
T |
1: 75,211,351 (GRCm38) |
C8F |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,942,848 (GRCm38) |
C1834R |
probably damaging |
Het |
| Tie1 |
C |
T |
4: 118,478,857 (GRCm38) |
|
probably null |
Het |
| Timp2 |
A |
G |
11: 118,303,895 (GRCm38) |
I156T |
probably damaging |
Het |
| Tmem163 |
A |
G |
1: 127,491,610 (GRCm38) |
M286T |
possibly damaging |
Het |
| Tmx4 |
T |
A |
2: 134,639,668 (GRCm38) |
M112L |
probably benign |
Het |
| Trank1 |
G |
T |
9: 111,366,012 (GRCm38) |
E1035* |
probably null |
Het |
| Trim5 |
C |
T |
7: 104,279,564 (GRCm38) |
V57M |
probably damaging |
Het |
| Ubr3 |
A |
G |
2: 69,991,566 (GRCm38) |
S1391G |
probably benign |
Het |
| Vmn1r72 |
A |
T |
7: 11,669,707 (GRCm38) |
S271R |
probably damaging |
Het |
| Xpo5 |
G |
A |
17: 46,236,090 (GRCm38) |
|
probably null |
Het |
| Zfp592 |
A |
T |
7: 81,025,193 (GRCm38) |
H635L |
probably damaging |
Het |
| Zfp791 |
A |
T |
8: 85,112,215 (GRCm38) |
N62K |
probably benign |
Het |
| Zmynd11 |
G |
A |
13: 9,695,139 (GRCm38) |
T248M |
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 |
|
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'- CCCAGGTACATTGTTCCCAG -3'
(R):5'- TCACATGGCCCACAATGATG -3'
Sequencing Primer
(F):5'- TATTCCACAGATTCAGAAGGAGCCTG -3'
(R):5'- ACAATGATGTGGAGTGTCAGCTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation