Incidental Mutation 'R1370:Arhgef5'
| ID |
155940 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef5
|
| Ensembl Gene |
ENSMUSG00000033542 |
| Gene Name |
Rho guanine nucleotide exchange factor 5 |
| Synonyms |
2210412D05Rik |
| MMRRC Submission |
039434-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1370 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
43242578-43266254 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43260846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 1424
(F1424I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031750]
|
| AlphaFold |
E9Q7D5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031750
AA Change: F1424I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: F1424I
| 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 |
noncoding transcript
Transcript: ENSMUST00000182190
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182647
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182752
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182924
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183227
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183313
|
| Meta Mutation Damage Score |
0.2964 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.6%
- 20x: 84.8%
|
| Validation Efficiency |
99% (80/81) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Adgra3 |
T |
C |
5: 50,118,129 (GRCm39) |
I1140V |
possibly damaging |
Het |
| Adrb3 |
A |
T |
8: 27,717,798 (GRCm39) |
|
probably null |
Het |
| Afap1 |
A |
G |
5: 36,092,944 (GRCm39) |
D16G |
unknown |
Het |
| AI593442 |
T |
C |
9: 52,589,308 (GRCm39) |
K90E |
probably damaging |
Het |
| Aicda |
A |
T |
6: 122,538,144 (GRCm39) |
N101Y |
probably benign |
Het |
| Alx1 |
A |
G |
10: 102,864,353 (GRCm39) |
S39P |
possibly damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,224,565 (GRCm39) |
D781G |
possibly damaging |
Het |
| Atp10b |
G |
A |
11: 43,042,482 (GRCm39) |
W14* |
probably null |
Het |
| Bin1 |
A |
G |
18: 32,562,756 (GRCm39) |
I416V |
probably benign |
Het |
| Bptf |
A |
T |
11: 106,937,920 (GRCm39) |
S2724T |
probably damaging |
Het |
| Brf1 |
A |
T |
12: 112,924,728 (GRCm39) |
|
probably null |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cd226 |
T |
A |
18: 89,265,147 (GRCm39) |
S29T |
probably benign |
Het |
| Cdan1 |
A |
G |
2: 120,549,620 (GRCm39) |
|
probably null |
Het |
| Chaf1a |
A |
T |
17: 56,371,032 (GRCm39) |
H639L |
probably benign |
Het |
| Chd1 |
G |
A |
17: 17,607,742 (GRCm39) |
G430D |
probably benign |
Het |
| Ciao3 |
A |
G |
17: 25,995,962 (GRCm39) |
E62G |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,519,624 (GRCm39) |
|
probably benign |
Het |
| Clptm1 |
A |
G |
7: 19,367,797 (GRCm39) |
V605A |
possibly damaging |
Het |
| Cmpk2 |
A |
G |
12: 26,521,451 (GRCm39) |
D241G |
probably damaging |
Het |
| Cryzl1 |
A |
G |
16: 91,489,546 (GRCm39) |
V266A |
possibly damaging |
Het |
| Cyp2c68 |
A |
G |
19: 39,729,400 (GRCm39) |
L29P |
probably damaging |
Het |
| Dennd3 |
A |
C |
15: 73,412,703 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
T |
A |
4: 86,729,747 (GRCm39) |
I783N |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,518,060 (GRCm39) |
S1305P |
probably damaging |
Het |
| Eml6 |
T |
G |
11: 29,783,085 (GRCm39) |
S599R |
probably benign |
Het |
| Gbp8 |
C |
T |
5: 105,164,442 (GRCm39) |
A394T |
possibly damaging |
Het |
| H1f10 |
A |
G |
6: 87,958,133 (GRCm39) |
I69T |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,818,621 (GRCm39) |
C2771S |
probably benign |
Het |
| Ism1 |
A |
T |
2: 139,573,994 (GRCm39) |
I115F |
possibly damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
C |
T |
12: 119,134,738 (GRCm39) |
G443E |
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,795,954 (GRCm39) |
I1274F |
possibly damaging |
Het |
| Klk1b11 |
A |
G |
7: 43,426,331 (GRCm39) |
I22V |
probably benign |
Het |
| Krt6b |
T |
C |
15: 101,585,987 (GRCm39) |
D362G |
probably damaging |
Het |
| Lce1e |
A |
G |
3: 92,615,150 (GRCm39) |
S66P |
unknown |
Het |
| Letm1 |
A |
T |
5: 33,936,026 (GRCm39) |
|
probably null |
Het |
| Lrrcc1 |
G |
T |
3: 14,613,174 (GRCm39) |
V299L |
probably benign |
Het |
| Mettl5 |
A |
T |
2: 69,711,764 (GRCm39) |
|
probably null |
Het |
| Mrpl12 |
A |
G |
11: 120,376,127 (GRCm39) |
S46G |
probably benign |
Het |
| Ndrg3 |
T |
C |
2: 156,780,570 (GRCm39) |
E198G |
probably damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,022,043 (GRCm39) |
S249P |
probably damaging |
Het |
| Pcdh20 |
A |
G |
14: 88,705,737 (GRCm39) |
I521T |
probably benign |
Het |
| Pdzph1 |
T |
C |
17: 59,281,082 (GRCm39) |
D400G |
possibly damaging |
Het |
| Per2 |
A |
T |
1: 91,373,279 (GRCm39) |
S170T |
possibly damaging |
Het |
| Pramel25 |
T |
A |
4: 143,521,874 (GRCm39) |
L497I |
possibly damaging |
Het |
| Pros1 |
A |
G |
16: 62,739,921 (GRCm39) |
K457E |
probably benign |
Het |
| Rer1 |
T |
A |
4: 155,160,081 (GRCm39) |
M156L |
probably benign |
Het |
| Rerg |
A |
T |
6: 137,034,799 (GRCm39) |
|
probably benign |
Het |
| Sel1l3 |
G |
T |
5: 53,357,559 (GRCm39) |
H144Q |
possibly damaging |
Het |
| Septin2 |
G |
T |
1: 93,426,828 (GRCm39) |
V146L |
probably damaging |
Het |
| Setd1b |
C |
T |
5: 123,298,748 (GRCm39) |
|
probably benign |
Het |
| Sh3bp4 |
A |
T |
1: 89,071,494 (GRCm39) |
Y114F |
probably benign |
Het |
| Slc44a5 |
C |
A |
3: 153,948,796 (GRCm39) |
T188K |
probably benign |
Het |
| Slco6d1 |
A |
C |
1: 98,350,819 (GRCm39) |
I100L |
probably benign |
Het |
| Slfn4 |
G |
T |
11: 83,079,632 (GRCm39) |
D441Y |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,758,975 (GRCm39) |
|
probably benign |
Het |
| Snrpb2 |
A |
G |
2: 142,907,086 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
A |
6: 48,425,560 (GRCm39) |
S60R |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,527,958 (GRCm39) |
V1405A |
probably benign |
Het |
| Syt1 |
A |
G |
10: 108,526,783 (GRCm39) |
L42P |
probably damaging |
Het |
| Tarbp1 |
T |
C |
8: 127,175,069 (GRCm39) |
D789G |
probably benign |
Het |
| Tbcel |
A |
T |
9: 42,361,358 (GRCm39) |
D63E |
probably damaging |
Het |
| Tdrd3 |
A |
T |
14: 87,695,490 (GRCm39) |
|
probably benign |
Het |
| Tiam1 |
A |
T |
16: 89,695,109 (GRCm39) |
I116N |
probably benign |
Het |
| Tsc22d1 |
A |
G |
14: 76,675,104 (GRCm39) |
|
probably benign |
Het |
| Tsga10 |
G |
T |
1: 37,874,534 (GRCm39) |
T117K |
probably damaging |
Het |
| Ttc3 |
A |
G |
16: 94,219,496 (GRCm39) |
S492G |
possibly damaging |
Het |
| Ttn |
G |
T |
2: 76,677,495 (GRCm39) |
|
probably benign |
Het |
| Wasf3 |
T |
C |
5: 146,407,018 (GRCm39) |
|
probably benign |
Het |
| Zbtb37 |
C |
T |
1: 160,859,592 (GRCm39) |
E238K |
probably benign |
Het |
| Zfp354c |
A |
G |
11: 50,706,667 (GRCm39) |
I136T |
probably benign |
Het |
| Zfp384 |
G |
A |
6: 125,013,416 (GRCm39) |
A479T |
probably benign |
Het |
| Zfp646 |
T |
A |
7: 127,479,036 (GRCm39) |
N404K |
probably damaging |
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 |
|
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 |
|
R6932:Arhgef5
|
UTSW |
6 |
43,251,351 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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'- GGACATCAAATGACCTGCTGCCAAG -3'
(R):5'- ATGGTTCTGACCAGGGACATCCAC -3'
Sequencing Primer
(F):5'- ACTCACAGTCTGAGTCATGAGTC -3'
(R):5'- ACCCCCAACTCCTGTGTC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation