Incidental Mutation 'R1532:Arhgef5'
| ID |
166643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef5
|
| Ensembl Gene |
ENSMUSG00000033542 |
| Gene Name |
Rho guanine nucleotide exchange factor (GEF) 5 |
| Synonyms |
2210412D05Rik |
| MMRRC Submission |
039571-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1532 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
43265582-43289320 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43273403 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 363
(T363A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031750]
|
| AlphaFold |
E9Q7D5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031750
AA Change: T363A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: T363A
| 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: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.9%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
C |
A |
4: 86,248,065 (GRCm38) |
H394N |
probably benign |
Het |
| Ahrr |
A |
G |
13: 74,213,707 (GRCm38) |
S558P |
probably benign |
Het |
| Ankrd26 |
T |
C |
6: 118,522,958 (GRCm38) |
N1184S |
probably damaging |
Het |
| Anpep |
A |
T |
7: 79,826,948 (GRCm38) |
C14* |
probably null |
Het |
| Arhgap18 |
A |
G |
10: 26,860,722 (GRCm38) |
D187G |
possibly damaging |
Het |
| Atxn1 |
A |
T |
13: 45,566,910 (GRCm38) |
L503Q |
possibly damaging |
Het |
| Babam1 |
A |
G |
8: 71,399,633 (GRCm38) |
D155G |
possibly damaging |
Het |
| Bbs9 |
A |
G |
9: 22,887,649 (GRCm38) |
T858A |
probably benign |
Het |
| Cacna1g |
C |
A |
11: 94,443,331 (GRCm38) |
G828V |
probably damaging |
Het |
| Ccar2 |
T |
C |
14: 70,142,956 (GRCm38) |
T392A |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,312,730 (GRCm38) |
V469A |
possibly damaging |
Het |
| Cdh23 |
G |
T |
10: 60,314,331 (GRCm38) |
N2576K |
probably damaging |
Het |
| Coro2b |
A |
G |
9: 62,489,423 (GRCm38) |
Y18H |
probably damaging |
Het |
| Crispld2 |
G |
T |
8: 120,023,572 (GRCm38) |
K238N |
probably benign |
Het |
| Ctnnd2 |
T |
C |
15: 30,921,868 (GRCm38) |
I880T |
probably damaging |
Het |
| Cubn |
C |
A |
2: 13,287,661 (GRCm38) |
C3237F |
probably damaging |
Het |
| Ddx31 |
A |
G |
2: 28,881,159 (GRCm38) |
M519V |
probably benign |
Het |
| Dhx32 |
A |
T |
7: 133,749,024 (GRCm38) |
C106S |
possibly damaging |
Het |
| Diaph1 |
A |
G |
18: 37,896,093 (GRCm38) |
|
probably null |
Het |
| Dnaaf1 |
T |
C |
8: 119,577,423 (GRCm38) |
F67L |
probably benign |
Het |
| Duox1 |
T |
G |
2: 122,344,723 (GRCm38) |
L1334R |
probably damaging |
Het |
| Dync1li2 |
A |
T |
8: 104,426,035 (GRCm38) |
I322N |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,792,256 (GRCm38) |
|
probably null |
Het |
| Entpd6 |
A |
G |
2: 150,758,750 (GRCm38) |
Q126R |
probably benign |
Het |
| Entpd7 |
C |
G |
19: 43,691,077 (GRCm38) |
P23R |
possibly damaging |
Het |
| Epha3 |
T |
C |
16: 63,546,178 (GRCm38) |
I970V |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,713,996 (GRCm38) |
H2163L |
probably damaging |
Het |
| Gse1 |
C |
G |
8: 120,568,210 (GRCm38) |
|
probably benign |
Het |
| Heatr5a |
A |
G |
12: 51,952,518 (GRCm38) |
V300A |
probably damaging |
Het |
| Hsd3b1 |
T |
A |
3: 98,852,898 (GRCm38) |
D259V |
probably damaging |
Het |
| Hspbap1 |
T |
C |
16: 35,825,303 (GRCm38) |
S453P |
probably damaging |
Het |
| Ifnl3 |
A |
G |
7: 28,524,227 (GRCm38) |
T163A |
probably benign |
Het |
| Igbp1b |
T |
A |
6: 138,658,444 (GRCm38) |
M1L |
possibly damaging |
Het |
| Klra3 |
G |
C |
6: 130,333,144 (GRCm38) |
R138G |
probably benign |
Het |
| Lpxn |
T |
C |
19: 12,804,092 (GRCm38) |
|
probably null |
Het |
| Mast1 |
G |
A |
8: 84,928,609 (GRCm38) |
Q249* |
probably null |
Het |
| Mink1 |
A |
G |
11: 70,602,007 (GRCm38) |
D153G |
probably null |
Het |
| Mllt10 |
G |
A |
2: 18,092,835 (GRCm38) |
|
probably null |
Het |
| Mpl |
C |
T |
4: 118,448,568 (GRCm38) |
G420E |
possibly damaging |
Het |
| Ms4a1 |
T |
A |
19: 11,253,193 (GRCm38) |
T215S |
probably benign |
Het |
| Ncapd3 |
C |
T |
9: 27,083,360 (GRCm38) |
Q1179* |
probably null |
Het |
| Nr3c2 |
A |
G |
8: 76,909,104 (GRCm38) |
H278R |
probably damaging |
Het |
| Olfr1417 |
T |
C |
19: 11,828,619 (GRCm38) |
I136V |
probably benign |
Het |
| Olfr1454 |
A |
G |
19: 13,064,275 (GRCm38) |
Y288C |
probably damaging |
Het |
| Olfr670 |
T |
C |
7: 104,960,265 (GRCm38) |
I156V |
probably benign |
Het |
| Os9 |
C |
T |
10: 127,098,902 (GRCm38) |
V353M |
probably damaging |
Het |
| Osbpl5 |
A |
T |
7: 143,695,080 (GRCm38) |
M589K |
probably benign |
Het |
| Phf20 |
G |
T |
2: 156,303,049 (GRCm38) |
G859V |
possibly damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,117,401 (GRCm38) |
T3561I |
probably benign |
Het |
| Prss46 |
G |
A |
9: 110,850,168 (GRCm38) |
V146I |
probably benign |
Het |
| Ptprk |
G |
A |
10: 28,585,630 (GRCm38) |
V1139M |
probably damaging |
Het |
| Ranbp10 |
A |
G |
8: 105,774,331 (GRCm38) |
L396P |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,249,734 (GRCm38) |
T1126A |
probably benign |
Het |
| Rbl2 |
G |
A |
8: 91,106,417 (GRCm38) |
A659T |
probably benign |
Het |
| Rdm1 |
T |
C |
11: 101,633,817 (GRCm38) |
L192P |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,034,744 (GRCm38) |
W842G |
probably damaging |
Het |
| Scn5a |
C |
T |
9: 119,533,847 (GRCm38) |
R569H |
probably damaging |
Het |
| Sele |
A |
G |
1: 164,053,851 (GRCm38) |
K509R |
probably benign |
Het |
| Slc15a1 |
A |
T |
14: 121,475,984 (GRCm38) |
I377N |
possibly damaging |
Het |
| Slc17a3 |
G |
A |
13: 23,856,500 (GRCm38) |
G269D |
probably damaging |
Het |
| Slc35a5 |
T |
C |
16: 45,151,557 (GRCm38) |
T115A |
probably benign |
Het |
| Slc5a12 |
T |
G |
2: 110,610,138 (GRCm38) |
N157K |
possibly damaging |
Het |
| Sphkap |
A |
G |
1: 83,257,203 (GRCm38) |
V1634A |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,247,353 (GRCm38) |
S2382P |
probably damaging |
Het |
| Synj2 |
C |
A |
17: 6,033,919 (GRCm38) |
S1100R |
probably benign |
Het |
| Tcf23 |
A |
G |
5: 30,973,557 (GRCm38) |
T180A |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,710,830 (GRCm38) |
V2846A |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,418,000 (GRCm38) |
I915K |
probably damaging |
Het |
| Uba1y |
C |
T |
Y: 828,862 (GRCm38) |
H557Y |
probably benign |
Het |
| Unc45b |
T |
A |
11: 82,936,874 (GRCm38) |
D730E |
probably benign |
Het |
| Unc5b |
A |
T |
10: 60,769,232 (GRCm38) |
L734Q |
probably damaging |
Het |
| Vmn1r167 |
G |
T |
7: 23,504,779 (GRCm38) |
H271N |
probably benign |
Het |
| Vmn2r76 |
A |
G |
7: 86,230,246 (GRCm38) |
V282A |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,513,939 (GRCm38) |
K2175E |
probably benign |
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 |
|
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 |
|
|
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'- TTCAATCTCAGGAAGCCCAGGGAC -3'
(R):5'- AGAACCTCAGGATCTACGGAAGCC -3'
Sequencing Primer
(F):5'- CCAAAGCTATATGCTACTTGGAGG -3'
(R):5'- GATCTACGGAAGCCACTGG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation