Incidental Mutation 'R6932:Arhgef5'
| ID |
540089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef5
|
| Ensembl Gene |
ENSMUSG00000033542 |
| Gene Name |
Rho guanine nucleotide exchange factor (GEF) 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 |
43265582-43289320 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43274417 bp (GRCm38)
|
| 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 |
|---|
| 4932443I19Rik |
CA |
CAA |
8: 13,734,865 |
|
probably null |
Het |
| Acads |
A |
T |
5: 115,112,272 |
F198I |
probably damaging |
Het |
| Acy1 |
A |
G |
9: 106,437,627 |
|
probably null |
Het |
| Adk |
A |
G |
14: 21,076,308 |
M1V |
probably null |
Het |
| Ahi1 |
A |
G |
10: 20,963,691 |
D167G |
probably benign |
Het |
| Ankrd16 |
T |
C |
2: 11,786,243 |
V290A |
possibly damaging |
Het |
| Atp13a5 |
C |
A |
16: 29,281,951 |
M673I |
probably damaging |
Het |
| BC005624 |
T |
C |
2: 30,978,928 |
D78G |
possibly damaging |
Het |
| Bcat2 |
C |
T |
7: 45,589,321 |
H347Y |
probably damaging |
Het |
| Bpifb4 |
A |
G |
2: 153,942,627 |
Y85C |
possibly damaging |
Het |
| Cdc42 |
T |
A |
4: 137,322,621 |
|
probably null |
Het |
| Cep170 |
G |
A |
1: 176,761,437 |
L541F |
possibly damaging |
Het |
| Cgrrf1 |
T |
A |
14: 46,853,722 |
N234K |
probably benign |
Het |
| Ctrc |
C |
T |
4: 141,841,568 |
C108Y |
probably damaging |
Het |
| Cyp2u1 |
C |
T |
3: 131,298,296 |
V192M |
possibly damaging |
Het |
| Dhx38 |
A |
T |
8: 109,552,675 |
L1013Q |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,287,776 |
N1945I |
probably damaging |
Het |
| Dnah10 |
C |
G |
5: 124,821,450 |
N3765K |
possibly damaging |
Het |
| Dnah17 |
C |
A |
11: 118,060,079 |
R2906L |
possibly damaging |
Het |
| Dnajc10 |
C |
T |
2: 80,331,336 |
T306I |
probably benign |
Het |
| Efemp2 |
T |
A |
19: 5,480,245 |
C287S |
probably damaging |
Het |
| Efna1 |
T |
C |
3: 89,272,784 |
R143G |
probably benign |
Het |
| Emilin1 |
A |
C |
5: 30,917,077 |
N221H |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 77,948,609 |
T174A |
probably benign |
Het |
| Fam184b |
T |
A |
5: 45,532,901 |
|
probably null |
Het |
| Fchsd2 |
T |
A |
7: 101,277,414 |
C570* |
probably null |
Het |
| Gm4787 |
A |
T |
12: 81,379,200 |
D61E |
probably benign |
Het |
| Gm7356 |
C |
T |
17: 14,001,663 |
G35R |
probably damaging |
Het |
| Gm8220 |
A |
G |
14: 44,288,188 |
T20A |
probably damaging |
Het |
| Hivep2 |
C |
T |
10: 14,128,501 |
T281M |
probably damaging |
Het |
| Ighv2-9-1 |
A |
G |
12: 113,770,072 |
V43A |
probably damaging |
Het |
| Klhl33 |
A |
T |
14: 50,891,916 |
C619S |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,829,261 |
|
probably benign |
Het |
| Lax1 |
A |
G |
1: 133,680,158 |
C282R |
probably benign |
Het |
| Lrrd1 |
A |
G |
5: 3,851,395 |
K567E |
probably benign |
Het |
| Luzp1 |
C |
T |
4: 136,540,813 |
R116* |
probably null |
Het |
| Lypd3 |
G |
C |
7: 24,638,433 |
G75R |
probably damaging |
Het |
| Macrod2 |
A |
T |
2: 140,419,913 |
N38I |
probably damaging |
Het |
| Map3k14 |
A |
T |
11: 103,242,132 |
I80N |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,620,203 |
S368P |
probably benign |
Het |
| Mfge8 |
T |
C |
7: 79,143,301 |
D139G |
probably benign |
Het |
| Mmp19 |
A |
T |
10: 128,791,654 |
I54F |
probably benign |
Het |
| Myo15 |
G |
T |
11: 60,499,494 |
W2114L |
probably damaging |
Het |
| Myo1a |
G |
T |
10: 127,710,458 |
V277L |
probably benign |
Het |
| Myoc |
A |
G |
1: 162,639,346 |
D28G |
probably damaging |
Het |
| Myrf |
G |
T |
19: 10,219,560 |
N487K |
probably damaging |
Het |
| Olfr1093 |
C |
G |
2: 86,786,155 |
L142V |
probably damaging |
Het |
| Olfr429 |
G |
A |
1: 174,089,750 |
A237T |
probably damaging |
Het |
| Olfr703 |
G |
T |
7: 106,844,802 |
G64* |
probably null |
Het |
| Omd |
T |
A |
13: 49,590,234 |
F253L |
probably damaging |
Het |
| Papss1 |
T |
G |
3: 131,599,971 |
I238S |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,562,451 |
F580Y |
probably benign |
Het |
| Polk |
T |
A |
13: 96,516,681 |
K70N |
probably damaging |
Het |
| Ppig |
T |
A |
2: 69,732,411 |
D31E |
probably benign |
Het |
| Ppp6r1 |
G |
T |
7: 4,633,292 |
S766R |
possibly damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,341,558 |
D783G |
probably benign |
Het |
| Reln |
T |
C |
5: 21,985,857 |
I1511V |
probably benign |
Het |
| Rnh1 |
T |
C |
7: 141,163,183 |
N268S |
probably damaging |
Het |
| Rpia |
A |
G |
6: 70,773,440 |
V236A |
probably benign |
Het |
| Rpl10a |
G |
T |
17: 28,329,450 |
V80L |
probably benign |
Het |
| Sap130 |
T |
G |
18: 31,666,354 |
S295A |
possibly damaging |
Het |
| Sgms1 |
C |
T |
19: 32,142,793 |
V238I |
probably benign |
Het |
| Sh3tc1 |
A |
G |
5: 35,707,434 |
S470P |
probably benign |
Het |
| Slc25a32 |
A |
G |
15: 39,097,589 |
V233A |
possibly damaging |
Het |
| Slc2a2 |
T |
C |
3: 28,717,519 |
S158P |
probably benign |
Het |
| Slc6a2 |
A |
G |
8: 92,996,025 |
Y550C |
probably benign |
Het |
| Slc7a9 |
C |
A |
7: 35,452,511 |
T77K |
probably benign |
Het |
| Snd1 |
A |
T |
6: 28,626,101 |
D385V |
probably benign |
Het |
| Ssh3 |
A |
T |
19: 4,264,420 |
F369I |
probably damaging |
Het |
| Syk |
A |
G |
13: 52,612,459 |
|
probably null |
Het |
| Tbc1d16 |
A |
G |
11: 119,208,916 |
S211P |
probably damaging |
Het |
| Ttc3 |
A |
G |
16: 94,443,453 |
T1439A |
probably benign |
Het |
| Usp18 |
A |
G |
6: 121,252,514 |
M31V |
probably benign |
Het |
| Vav1 |
G |
T |
17: 57,302,330 |
E415D |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,678,075 |
V1863D |
probably benign |
Het |
| Xdh |
T |
A |
17: 73,922,562 |
I299F |
probably damaging |
Het |
| Zc3h14 |
A |
G |
12: 98,771,077 |
|
probably benign |
Het |
| Zfp345 |
G |
A |
2: 150,473,411 |
H69Y |
probably damaging |
Het |
| Zfp652 |
G |
T |
11: 95,763,841 |
V357L |
probably benign |
Het |
| Zfp712 |
A |
T |
13: 67,040,827 |
Y545* |
probably null |
Het |
| Zgrf1 |
T |
C |
3: 127,559,632 |
|
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 |
|
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 |
|
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'- TCAGAGGCCTCCTAAACCAG -3'
(R):5'- AGAAGATCTATGGAGCCCTGAAC -3'
Sequencing Primer
(F):5'- TATGGCTCTCTGACCCCAAGAAG -3'
(R):5'- ATCTATGGAGCCCTGAACTTAGG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation