Incidental Mutation 'R8857:Arhgef5'
ID |
675406 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef5
|
Ensembl Gene |
ENSMUSG00000033542 |
Gene Name |
Rho guanine nucleotide exchange factor 5 |
Synonyms |
2210412D05Rik |
MMRRC Submission |
068677-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8857 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
43242578-43266254 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 43264558 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1523
(V1523A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031750
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031750]
|
AlphaFold |
E9Q7D5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031750
AA Change: V1523A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000031750 Gene: ENSMUSG00000033542 AA Change: V1523A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
98% (65/66) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
G |
A |
19: 57,119,287 (GRCm39) |
L266F |
possibly damaging |
Het |
Adgrf3 |
A |
T |
5: 30,402,065 (GRCm39) |
C654* |
probably null |
Het |
Adgrl1 |
C |
A |
8: 84,657,657 (GRCm39) |
A421D |
probably benign |
Het |
Adra1b |
C |
G |
11: 43,727,092 (GRCm39) |
|
probably benign |
Het |
Apba2 |
T |
A |
7: 64,399,939 (GRCm39) |
V710E |
possibly damaging |
Het |
AW551984 |
G |
C |
9: 39,511,831 (GRCm39) |
A60G |
probably damaging |
Het |
Bdh1 |
A |
T |
16: 31,265,450 (GRCm39) |
T42S |
probably benign |
Het |
C130073F10Rik |
G |
A |
4: 101,747,555 (GRCm39) |
P158L |
possibly damaging |
Het |
Cacna2d4 |
A |
T |
6: 119,248,909 (GRCm39) |
K457* |
probably null |
Het |
Chd3 |
G |
A |
11: 69,253,146 (GRCm39) |
P223L |
probably benign |
Het |
Cnst |
T |
C |
1: 179,437,878 (GRCm39) |
S481P |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,703,485 (GRCm39) |
K3027N |
unknown |
Het |
Csf2rb2 |
T |
C |
15: 78,178,613 (GRCm39) |
D111G |
probably null |
Het |
Disc1 |
A |
C |
8: 125,891,870 (GRCm39) |
E641A |
probably damaging |
Het |
Fbln5 |
C |
A |
12: 101,726,990 (GRCm39) |
C320F |
probably damaging |
Het |
Fbn2 |
G |
A |
18: 58,286,933 (GRCm39) |
T242I |
probably damaging |
Het |
Frem1 |
T |
A |
4: 82,922,280 (GRCm39) |
|
probably benign |
Het |
Gpsm1 |
G |
C |
2: 26,230,457 (GRCm39) |
G469A |
possibly damaging |
Het |
Hic1 |
A |
G |
11: 75,056,228 (GRCm39) |
I887T |
probably benign |
Het |
Hltf |
T |
C |
3: 20,159,825 (GRCm39) |
V692A |
probably damaging |
Het |
Hsd17b13 |
A |
G |
5: 104,125,063 (GRCm39) |
L40P |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,298,587 (GRCm39) |
|
probably null |
Het |
Irf2bpl |
T |
C |
12: 86,929,359 (GRCm39) |
Y438C |
possibly damaging |
Het |
Itgb4 |
A |
T |
11: 115,871,853 (GRCm39) |
N219I |
probably benign |
Het |
Knop1 |
T |
C |
7: 118,451,949 (GRCm39) |
K257E |
|
Het |
Krtap19-5 |
A |
T |
16: 88,693,139 (GRCm39) |
F58I |
unknown |
Het |
L3mbtl2 |
T |
A |
15: 81,571,320 (GRCm39) |
F709L |
unknown |
Het |
Map1a |
G |
A |
2: 121,138,098 (GRCm39) |
R2924H |
probably damaging |
Het |
Mfsd13a |
A |
G |
19: 46,356,567 (GRCm39) |
D224G |
probably benign |
Het |
Mme |
A |
T |
3: 63,256,070 (GRCm39) |
N510I |
probably damaging |
Het |
Morc2a |
T |
A |
11: 3,627,484 (GRCm39) |
|
probably null |
Het |
Mptx2 |
T |
C |
1: 173,102,452 (GRCm39) |
E79G |
probably benign |
Het |
Nutm1 |
A |
G |
2: 112,081,523 (GRCm39) |
M380T |
probably benign |
Het |
Or5ac25 |
A |
T |
16: 59,182,041 (GRCm39) |
I180N |
probably damaging |
Het |
P2rx1 |
A |
G |
11: 72,903,197 (GRCm39) |
|
probably benign |
Het |
Padi4 |
A |
G |
4: 140,501,472 (GRCm39) |
I7T |
probably damaging |
Het |
Phf20l1 |
T |
C |
15: 66,513,781 (GRCm39) |
S1013P |
probably benign |
Het |
Plb1 |
T |
C |
5: 32,521,556 (GRCm39) |
V1469A |
unknown |
Het |
Polr1g |
C |
T |
7: 19,093,355 (GRCm39) |
|
probably benign |
Het |
Prkab1 |
T |
C |
5: 116,158,147 (GRCm39) |
N150D |
probably damaging |
Het |
Qsox1 |
A |
G |
1: 155,658,333 (GRCm39) |
V412A |
possibly damaging |
Het |
Rai1 |
A |
G |
11: 60,077,393 (GRCm39) |
S486G |
probably benign |
Het |
Rev3l |
T |
A |
10: 39,670,965 (GRCm39) |
Y170* |
probably null |
Het |
Rims2 |
T |
A |
15: 39,543,044 (GRCm39) |
M1426K |
possibly damaging |
Het |
Selenoi |
C |
A |
5: 30,461,160 (GRCm39) |
S132* |
probably null |
Het |
Shtn1 |
T |
C |
19: 58,978,800 (GRCm39) |
I498M |
probably damaging |
Het |
Sin3b |
T |
C |
8: 73,483,523 (GRCm39) |
M970T |
probably benign |
Het |
Slc17a8 |
A |
G |
10: 89,427,022 (GRCm39) |
F360L |
probably damaging |
Het |
Slc7a11 |
A |
G |
3: 50,393,305 (GRCm39) |
Y113H |
probably damaging |
Het |
Spast |
T |
A |
17: 74,675,938 (GRCm39) |
M327K |
possibly damaging |
Het |
Sphkap |
T |
A |
1: 83,258,288 (GRCm39) |
I152F |
probably damaging |
Het |
Tecpr1 |
T |
C |
5: 144,153,117 (GRCm39) |
E204G |
possibly damaging |
Het |
Tiam1 |
A |
T |
16: 89,662,145 (GRCm39) |
S658T |
probably damaging |
Het |
Tmem174 |
G |
T |
13: 98,773,433 (GRCm39) |
H132Q |
probably damaging |
Het |
Tnfrsf10b |
G |
A |
14: 70,012,543 (GRCm39) |
V117I |
probably benign |
Het |
Tnr |
A |
G |
1: 159,713,728 (GRCm39) |
T719A |
probably benign |
Het |
Tomm34 |
G |
A |
2: 163,896,379 (GRCm39) |
P292S |
probably damaging |
Het |
Trav15-1-dv6-1 |
T |
A |
14: 53,797,615 (GRCm39) |
F88Y |
probably damaging |
Het |
Trp63 |
A |
T |
16: 25,639,226 (GRCm39) |
H138L |
probably damaging |
Het |
U2af2 |
T |
A |
7: 5,065,290 (GRCm39) |
S2T |
probably damaging |
Het |
Uroc1 |
T |
C |
6: 90,334,510 (GRCm39) |
V574A |
possibly damaging |
Het |
Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
Zfp488 |
A |
C |
14: 33,692,760 (GRCm39) |
S134R |
probably benign |
Het |
Zfp950 |
T |
C |
19: 61,116,001 (GRCm39) |
D2G |
probably benign |
Het |
Zfyve1 |
T |
A |
12: 83,598,374 (GRCm39) |
H618L |
probably damaging |
Het |
Zp1 |
T |
G |
19: 10,893,888 (GRCm39) |
D439A |
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 |
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 |
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 |
|
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'- GATCCCACACTTGTCTTTACCTCATG -3'
(R):5'- TTGGGGACGAAACTGCTCC -3'
Sequencing Primer
(F):5'- GTCTTTACCTCATGTCCTCCCATAC -3'
(R):5'- AGGCCCTTCCTAGAAGCTTAAGTTG -3'
|
Posted On |
2021-07-15 |