Incidental Mutation 'R4818:Arhgef5'
| ID |
369991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef5
|
| Ensembl Gene |
ENSMUSG00000033542 |
| Gene Name |
Rho guanine nucleotide exchange factor 5 |
| Synonyms |
2210412D05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4818 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
43242578-43266254 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43250484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 412
(V412I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031750]
|
| AlphaFold |
E9Q7D5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031750
AA Change: V412I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: V412I
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
100% (73/73) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,571,810 (GRCm39) |
E562G |
probably benign |
Het |
| 5730522E02Rik |
A |
G |
11: 25,720,472 (GRCm39) |
|
probably null |
Het |
| A930033H14Rik |
A |
T |
10: 69,048,190 (GRCm39) |
|
probably benign |
Het |
| Abca17 |
C |
T |
17: 24,536,135 (GRCm39) |
E511K |
probably damaging |
Het |
| Abca9 |
C |
T |
11: 110,045,980 (GRCm39) |
|
probably null |
Het |
| Abhd5 |
T |
A |
9: 122,192,865 (GRCm39) |
|
probably null |
Het |
| Adra2b |
G |
A |
2: 127,206,012 (GRCm39) |
W171* |
probably null |
Het |
| Ahcyl |
G |
A |
16: 45,974,555 (GRCm39) |
T274I |
probably damaging |
Het |
| Aldh1l1 |
T |
C |
6: 90,573,897 (GRCm39) |
Y799H |
probably benign |
Het |
| Arfgef1 |
A |
G |
1: 10,286,772 (GRCm39) |
V46A |
probably benign |
Het |
| Arhgap40 |
A |
G |
2: 158,381,639 (GRCm39) |
E374G |
probably damaging |
Het |
| Arid3c |
T |
C |
4: 41,730,072 (GRCm39) |
E41G |
possibly damaging |
Het |
| Atp8b4 |
T |
A |
2: 126,164,736 (GRCm39) |
K1193N |
probably benign |
Het |
| C4a |
C |
T |
17: 35,035,975 (GRCm39) |
|
noncoding transcript |
Het |
| Chst2 |
C |
T |
9: 95,287,417 (GRCm39) |
D310N |
probably damaging |
Het |
| Crtc3 |
T |
C |
7: 80,327,170 (GRCm39) |
Q52R |
possibly damaging |
Het |
| Crybg1 |
T |
C |
10: 43,874,583 (GRCm39) |
I842V |
probably benign |
Het |
| Dennd4c |
T |
C |
4: 86,743,511 (GRCm39) |
S1167P |
probably benign |
Het |
| Edem3 |
T |
C |
1: 151,668,136 (GRCm39) |
V305A |
possibly damaging |
Het |
| Epha10 |
T |
A |
4: 124,780,007 (GRCm39) |
|
probably null |
Het |
| Epha6 |
C |
A |
16: 59,474,426 (GRCm39) |
R1117L |
probably damaging |
Het |
| Fdx2 |
T |
C |
9: 20,979,160 (GRCm39) |
I144V |
possibly damaging |
Het |
| Gm10762 |
C |
T |
2: 128,809,106 (GRCm39) |
W81* |
probably null |
Het |
| Hus1 |
A |
G |
11: 8,946,808 (GRCm39) |
|
probably benign |
Het |
| Igbp1b |
C |
T |
6: 138,634,803 (GRCm39) |
E214K |
probably benign |
Het |
| Inpp5f |
A |
G |
7: 128,286,853 (GRCm39) |
I577M |
probably damaging |
Het |
| Kansl2 |
G |
A |
15: 98,424,542 (GRCm39) |
T296I |
possibly damaging |
Het |
| Kcna6 |
A |
G |
6: 126,715,387 (GRCm39) |
F501L |
probably benign |
Het |
| Kirrel2 |
A |
T |
7: 30,149,293 (GRCm39) |
V579D |
probably benign |
Het |
| Larp1b |
T |
C |
3: 40,925,005 (GRCm39) |
Y208H |
probably damaging |
Het |
| Lipf |
A |
T |
19: 33,943,088 (GRCm39) |
D132V |
probably benign |
Het |
| Lsm12 |
T |
C |
11: 102,057,989 (GRCm39) |
K40E |
probably damaging |
Het |
| Mastl |
A |
G |
2: 23,027,038 (GRCm39) |
S275P |
probably benign |
Het |
| Mettl25b |
C |
A |
3: 87,832,305 (GRCm39) |
R293L |
probably benign |
Het |
| Mrpl44 |
A |
G |
1: 79,758,694 (GRCm39) |
I281V |
probably benign |
Het |
| Mtf1 |
T |
A |
4: 124,698,505 (GRCm39) |
M1K |
probably null |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Myh2 |
G |
A |
11: 67,067,081 (GRCm39) |
G179R |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,531,568 (GRCm39) |
T739A |
possibly damaging |
Het |
| Nfatc3 |
G |
A |
8: 106,835,011 (GRCm39) |
V778I |
probably benign |
Het |
| Notch4 |
A |
G |
17: 34,797,690 (GRCm39) |
|
probably benign |
Het |
| Npm2 |
T |
C |
14: 70,889,842 (GRCm39) |
N24S |
probably benign |
Het |
| Obox7 |
T |
A |
7: 14,398,410 (GRCm39) |
L108Q |
probably damaging |
Het |
| Or51ah3 |
T |
A |
7: 103,209,968 (GRCm39) |
F95I |
probably benign |
Het |
| Pax3 |
A |
G |
1: 78,108,869 (GRCm39) |
V263A |
probably damaging |
Het |
| Pdlim1 |
C |
T |
19: 40,211,580 (GRCm39) |
V238I |
probably damaging |
Het |
| Pik3ip1 |
G |
A |
11: 3,280,928 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,546,442 (GRCm39) |
V284A |
possibly damaging |
Het |
| Rad9b |
G |
A |
5: 122,477,839 (GRCm39) |
T179I |
probably damaging |
Het |
| Sirt4 |
G |
T |
5: 115,617,785 (GRCm39) |
D290E |
possibly damaging |
Het |
| Skint6 |
T |
A |
4: 112,812,589 (GRCm39) |
|
probably benign |
Het |
| Slc18a1 |
A |
C |
8: 69,492,951 (GRCm39) |
I466S |
probably damaging |
Het |
| Slc35e4 |
C |
T |
11: 3,862,889 (GRCm39) |
R100H |
probably benign |
Het |
| Sptbn5 |
T |
G |
2: 119,898,449 (GRCm39) |
K470Q |
probably benign |
Het |
| Tas1r1 |
C |
G |
4: 152,117,131 (GRCm39) |
V168L |
probably benign |
Het |
| Tmem233 |
T |
A |
5: 116,221,222 (GRCm39) |
Q8L |
possibly damaging |
Het |
| Ttc17 |
G |
T |
2: 94,163,236 (GRCm39) |
Q862K |
possibly damaging |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
| Zfp1004 |
T |
A |
2: 150,033,981 (GRCm39) |
C132S |
probably damaging |
Het |
| Zfp229 |
T |
C |
17: 21,962,885 (GRCm39) |
I68T |
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,631,128 (GRCm39) |
V30A |
probably benign |
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 |
|
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'- AGGGTAGCCACTCAGTATACAG -3'
(R):5'- TTCTTCAGGAGCAAAAGAGGC -3'
Sequencing Primer
(F):5'- GGTAGCCACTCAGTATACAGAGAATC -3'
(R):5'- CAGGGGGAGAAATGGGTTG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation