Incidental Mutation 'R6932:Arhgef5'
ID |
540089 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef5
|
Ensembl Gene |
ENSMUSG00000033542 |
Gene Name |
Rho guanine nucleotide exchange factor 5 |
Synonyms |
2210412D05Rik |
MMRRC Submission |
045047-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6932 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
43242578-43266254 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 43251351 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 701
(S701T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031750
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031750]
|
AlphaFold |
E9Q7D5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031750
AA Change: S701T
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000031750 Gene: ENSMUSG00000033542 AA Change: S701T
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
Validation Efficiency |
98% (80/82) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acads |
A |
T |
5: 115,250,331 (GRCm39) |
F198I |
probably damaging |
Het |
Acy1 |
A |
G |
9: 106,314,826 (GRCm39) |
|
probably null |
Het |
Adk |
A |
G |
14: 21,126,376 (GRCm39) |
M1V |
probably null |
Het |
Ahi1 |
A |
G |
10: 20,839,590 (GRCm39) |
D167G |
probably benign |
Het |
Ankrd16 |
T |
C |
2: 11,791,054 (GRCm39) |
V290A |
possibly damaging |
Het |
Atp13a5 |
C |
A |
16: 29,100,769 (GRCm39) |
M673I |
probably damaging |
Het |
BC005624 |
T |
C |
2: 30,868,940 (GRCm39) |
D78G |
possibly damaging |
Het |
Bcat2 |
C |
T |
7: 45,238,745 (GRCm39) |
H347Y |
probably damaging |
Het |
Bpifb4 |
A |
G |
2: 153,784,547 (GRCm39) |
Y85C |
possibly damaging |
Het |
Cdc42 |
T |
A |
4: 137,049,932 (GRCm39) |
|
probably null |
Het |
Cep170 |
G |
A |
1: 176,589,003 (GRCm39) |
L541F |
possibly damaging |
Het |
Cfap97d2 |
CA |
CAA |
8: 13,784,865 (GRCm39) |
|
probably null |
Het |
Cgrrf1 |
T |
A |
14: 47,091,179 (GRCm39) |
N234K |
probably benign |
Het |
Ctrc |
C |
T |
4: 141,568,879 (GRCm39) |
C108Y |
probably damaging |
Het |
Cyp2u1 |
C |
T |
3: 131,091,945 (GRCm39) |
V192M |
possibly damaging |
Het |
Dhx38 |
A |
T |
8: 110,279,307 (GRCm39) |
L1013Q |
probably damaging |
Het |
Dnah1 |
T |
A |
14: 31,009,733 (GRCm39) |
N1945I |
probably damaging |
Het |
Dnah10 |
C |
G |
5: 124,898,514 (GRCm39) |
N3765K |
possibly damaging |
Het |
Dnah17 |
C |
A |
11: 117,950,905 (GRCm39) |
R2906L |
possibly damaging |
Het |
Dnajc10 |
C |
T |
2: 80,161,680 (GRCm39) |
T306I |
probably benign |
Het |
Efemp2 |
T |
A |
19: 5,530,273 (GRCm39) |
C287S |
probably damaging |
Het |
Efna1 |
T |
C |
3: 89,180,091 (GRCm39) |
R143G |
probably benign |
Het |
Emilin1 |
A |
C |
5: 31,074,421 (GRCm39) |
N221H |
probably damaging |
Het |
Epg5 |
A |
G |
18: 77,991,824 (GRCm39) |
T174A |
probably benign |
Het |
Fam184b |
T |
A |
5: 45,690,243 (GRCm39) |
|
probably null |
Het |
Fchsd2 |
T |
A |
7: 100,926,621 (GRCm39) |
C570* |
probably null |
Het |
Gm4787 |
A |
T |
12: 81,425,974 (GRCm39) |
D61E |
probably benign |
Het |
Gm7356 |
C |
T |
17: 14,221,925 (GRCm39) |
G35R |
probably damaging |
Het |
Gm8220 |
A |
G |
14: 44,525,645 (GRCm39) |
T20A |
probably damaging |
Het |
Hivep2 |
C |
T |
10: 14,004,245 (GRCm39) |
T281M |
probably damaging |
Het |
Ighv2-9-1 |
A |
G |
12: 113,733,692 (GRCm39) |
V43A |
probably damaging |
Het |
Klhl33 |
A |
T |
14: 51,129,373 (GRCm39) |
C619S |
probably benign |
Het |
Kmt2a |
A |
T |
9: 44,740,558 (GRCm39) |
|
probably benign |
Het |
Lax1 |
A |
G |
1: 133,607,896 (GRCm39) |
C282R |
probably benign |
Het |
Lrrd1 |
A |
G |
5: 3,901,395 (GRCm39) |
K567E |
probably benign |
Het |
Luzp1 |
C |
T |
4: 136,268,124 (GRCm39) |
R116* |
probably null |
Het |
Lypd3 |
G |
C |
7: 24,337,858 (GRCm39) |
G75R |
probably damaging |
Het |
Macrod2 |
A |
T |
2: 140,261,833 (GRCm39) |
N38I |
probably damaging |
Het |
Map3k14 |
A |
T |
11: 103,132,958 (GRCm39) |
I80N |
probably damaging |
Het |
Mcm9 |
A |
G |
10: 53,496,299 (GRCm39) |
S368P |
probably benign |
Het |
Mfge8 |
T |
C |
7: 78,793,049 (GRCm39) |
D139G |
probably benign |
Het |
Mmp19 |
A |
T |
10: 128,627,523 (GRCm39) |
I54F |
probably benign |
Het |
Myo15a |
G |
T |
11: 60,390,320 (GRCm39) |
W2114L |
probably damaging |
Het |
Myo1a |
G |
T |
10: 127,546,327 (GRCm39) |
V277L |
probably benign |
Het |
Myoc |
A |
G |
1: 162,466,915 (GRCm39) |
D28G |
probably damaging |
Het |
Myrf |
G |
T |
19: 10,196,924 (GRCm39) |
N487K |
probably damaging |
Het |
Omd |
T |
A |
13: 49,743,710 (GRCm39) |
F253L |
probably damaging |
Het |
Or2ag19 |
G |
T |
7: 106,444,009 (GRCm39) |
G64* |
probably null |
Het |
Or5t5 |
C |
G |
2: 86,616,499 (GRCm39) |
L142V |
probably damaging |
Het |
Or6n1 |
G |
A |
1: 173,917,316 (GRCm39) |
A237T |
probably damaging |
Het |
Papss1 |
T |
G |
3: 131,305,732 (GRCm39) |
I238S |
probably damaging |
Het |
Pkhd1 |
A |
T |
1: 20,632,675 (GRCm39) |
F580Y |
probably benign |
Het |
Polk |
T |
A |
13: 96,653,189 (GRCm39) |
K70N |
probably damaging |
Het |
Ppig |
T |
A |
2: 69,562,755 (GRCm39) |
D31E |
probably benign |
Het |
Ppp6r1 |
G |
T |
7: 4,636,291 (GRCm39) |
S766R |
possibly damaging |
Het |
Rab11fip5 |
T |
C |
6: 85,318,540 (GRCm39) |
D783G |
probably benign |
Het |
Reln |
T |
C |
5: 22,190,855 (GRCm39) |
I1511V |
probably benign |
Het |
Rnh1 |
T |
C |
7: 140,743,096 (GRCm39) |
N268S |
probably damaging |
Het |
Rpia |
A |
G |
6: 70,750,424 (GRCm39) |
V236A |
probably benign |
Het |
Rpl10a |
G |
T |
17: 28,548,424 (GRCm39) |
V80L |
probably benign |
Het |
Sap130 |
T |
G |
18: 31,799,407 (GRCm39) |
S295A |
possibly damaging |
Het |
Sgms1 |
C |
T |
19: 32,120,193 (GRCm39) |
V238I |
probably benign |
Het |
Sh3tc1 |
A |
G |
5: 35,864,778 (GRCm39) |
S470P |
probably benign |
Het |
Slc25a32 |
A |
G |
15: 38,960,984 (GRCm39) |
V233A |
possibly damaging |
Het |
Slc2a2 |
T |
C |
3: 28,771,668 (GRCm39) |
S158P |
probably benign |
Het |
Slc6a2 |
A |
G |
8: 93,722,653 (GRCm39) |
Y550C |
probably benign |
Het |
Slc7a9 |
C |
A |
7: 35,151,936 (GRCm39) |
T77K |
probably benign |
Het |
Snd1 |
A |
T |
6: 28,626,100 (GRCm39) |
D385V |
probably benign |
Het |
Ssh3 |
A |
T |
19: 4,314,448 (GRCm39) |
F369I |
probably damaging |
Het |
Syk |
A |
G |
13: 52,766,495 (GRCm39) |
|
probably null |
Het |
Tbc1d16 |
A |
G |
11: 119,099,742 (GRCm39) |
S211P |
probably damaging |
Het |
Ttc3 |
A |
G |
16: 94,244,312 (GRCm39) |
T1439A |
probably benign |
Het |
Usp18 |
A |
G |
6: 121,229,473 (GRCm39) |
M31V |
probably benign |
Het |
Vav1 |
G |
T |
17: 57,609,330 (GRCm39) |
E415D |
possibly damaging |
Het |
Vps13a |
A |
T |
19: 16,655,439 (GRCm39) |
V1863D |
probably benign |
Het |
Xdh |
T |
A |
17: 74,229,557 (GRCm39) |
I299F |
probably damaging |
Het |
Zc3h14 |
A |
G |
12: 98,737,336 (GRCm39) |
|
probably benign |
Het |
Zfp345 |
G |
A |
2: 150,315,331 (GRCm39) |
H69Y |
probably damaging |
Het |
Zfp652 |
G |
T |
11: 95,654,667 (GRCm39) |
V357L |
probably benign |
Het |
Zfp712 |
A |
T |
13: 67,188,891 (GRCm39) |
Y545* |
probably null |
Het |
Zgrf1 |
T |
C |
3: 127,353,281 (GRCm39) |
|
probably null |
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 |
R1168:Arhgef5
|
UTSW |
6 |
43,250,330 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
PCR Primer
(F):5'- TCAGAGGCCTCCTAAACCAG -3'
(R):5'- AGAAGATCTATGGAGCCCTGAAC -3'
Sequencing Primer
(F):5'- TATGGCTCTCTGACCCCAAGAAG -3'
(R):5'- ATCTATGGAGCCCTGAACTTAGG -3'
|
Posted On |
2018-11-06 |