Incidental Mutation 'R1663:Arhgef5'
| ID |
186926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef5
|
| Ensembl Gene |
ENSMUSG00000033542 |
| Gene Name |
Rho guanine nucleotide exchange factor 5 |
| Synonyms |
2210412D05Rik |
| MMRRC Submission |
039699-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1663 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
43242578-43266254 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43253899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 1131
(A1131T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031750]
|
| AlphaFold |
E9Q7D5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031750
AA Change: A1131T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: A1131T
| 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: ENSMUST00000182752
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000182924
AA Change: A399T
|
| 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: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
A |
8: 25,177,949 (GRCm39) |
T11S |
probably benign |
Het |
| Adgb |
T |
C |
10: 10,215,419 (GRCm39) |
M1529V |
possibly damaging |
Het |
| Ankrd36 |
T |
A |
11: 5,570,126 (GRCm39) |
D531E |
possibly damaging |
Het |
| Ankzf1 |
C |
T |
1: 75,172,914 (GRCm39) |
P337S |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,401,378 (GRCm39) |
I55V |
probably damaging |
Het |
| Aplnr |
A |
G |
2: 84,967,038 (GRCm39) |
D21G |
possibly damaging |
Het |
| Apol10b |
A |
T |
15: 77,472,914 (GRCm39) |
F47I |
probably damaging |
Het |
| Arrb2 |
A |
T |
11: 70,328,429 (GRCm39) |
Q83L |
probably damaging |
Het |
| Atf7ip |
A |
G |
6: 136,580,322 (GRCm39) |
Q1082R |
possibly damaging |
Het |
| Atl2 |
A |
G |
17: 80,172,140 (GRCm39) |
S28P |
probably damaging |
Het |
| Brd7 |
T |
C |
8: 89,084,651 (GRCm39) |
K89E |
possibly damaging |
Het |
| Cc2d1b |
A |
G |
4: 108,480,744 (GRCm39) |
T55A |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,363,956 (GRCm39) |
E1217G |
probably damaging |
Het |
| Cdc42ep4 |
A |
T |
11: 113,620,277 (GRCm39) |
M38K |
probably damaging |
Het |
| Cldn14 |
A |
G |
16: 93,716,166 (GRCm39) |
S227P |
probably damaging |
Het |
| Clspn |
T |
A |
4: 126,459,768 (GRCm39) |
C332S |
probably benign |
Het |
| Col5a1 |
T |
C |
2: 27,841,488 (GRCm39) |
S370P |
unknown |
Het |
| Comp |
T |
C |
8: 70,826,250 (GRCm39) |
L10P |
possibly damaging |
Het |
| Dcc |
A |
T |
18: 71,959,123 (GRCm39) |
N216K |
probably damaging |
Het |
| Dcstamp |
C |
T |
15: 39,618,340 (GRCm39) |
Q250* |
probably null |
Het |
| Drd5 |
T |
C |
5: 38,478,198 (GRCm39) |
F397S |
probably benign |
Het |
| Dst |
T |
C |
1: 34,202,466 (GRCm39) |
S265P |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,193,230 (GRCm39) |
Q574R |
probably benign |
Het |
| Enam |
A |
T |
5: 88,651,853 (GRCm39) |
S1046C |
probably damaging |
Het |
| Eno3 |
T |
C |
11: 70,553,100 (GRCm39) |
|
probably null |
Het |
| Fam13a |
G |
A |
6: 58,931,357 (GRCm39) |
R408* |
probably null |
Het |
| Gipc2 |
T |
A |
3: 151,799,801 (GRCm39) |
M310L |
probably benign |
Het |
| Gm14496 |
T |
C |
2: 181,639,230 (GRCm39) |
V440A |
probably benign |
Het |
| Gzmg |
A |
T |
14: 56,394,265 (GRCm39) |
C210S |
probably damaging |
Het |
| Helb |
G |
T |
10: 119,941,338 (GRCm39) |
A450E |
probably damaging |
Het |
| Hepacam2 |
A |
T |
6: 3,483,439 (GRCm39) |
I190N |
possibly damaging |
Het |
| Hk3 |
A |
T |
13: 55,154,388 (GRCm39) |
S773T |
probably benign |
Het |
| Hnrnpc |
A |
G |
14: 52,312,852 (GRCm39) |
S221P |
probably damaging |
Het |
| Ifna9 |
T |
C |
4: 88,510,220 (GRCm39) |
T135A |
probably benign |
Het |
| Igfn1 |
C |
T |
1: 135,896,046 (GRCm39) |
G1507R |
probably benign |
Het |
| Kank3 |
A |
G |
17: 34,037,349 (GRCm39) |
T218A |
probably benign |
Het |
| Kcp |
G |
T |
6: 29,498,964 (GRCm39) |
R337S |
possibly damaging |
Het |
| Krt74 |
A |
T |
15: 101,665,109 (GRCm39) |
|
noncoding transcript |
Het |
| Lrp1 |
A |
T |
10: 127,392,790 (GRCm39) |
D2758E |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,144,578 (GRCm39) |
E1295G |
probably damaging |
Het |
| Mccc1 |
C |
A |
3: 36,033,082 (GRCm39) |
W354L |
probably damaging |
Het |
| Mmp1a |
C |
T |
9: 7,465,657 (GRCm39) |
T198M |
probably benign |
Het |
| Mtmr2 |
C |
T |
9: 13,714,797 (GRCm39) |
T519I |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,553,407 (GRCm39) |
S2632P |
possibly damaging |
Het |
| Nbn |
T |
A |
4: 15,970,903 (GRCm39) |
D295E |
probably benign |
Het |
| Ndufb8 |
T |
C |
19: 44,538,820 (GRCm39) |
Y167C |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,913,478 (GRCm39) |
|
probably benign |
Het |
| Notch3 |
C |
T |
17: 32,375,093 (GRCm39) |
G407D |
probably damaging |
Het |
| Nucb1 |
A |
G |
7: 45,148,288 (GRCm39) |
F175S |
probably damaging |
Het |
| Or1l8 |
T |
G |
2: 36,817,346 (GRCm39) |
Y260S |
probably damaging |
Het |
| Or6c6c |
G |
A |
10: 129,541,160 (GRCm39) |
V138M |
probably benign |
Het |
| Or7g12 |
T |
A |
9: 18,900,006 (GRCm39) |
C241S |
probably damaging |
Het |
| Or8b44 |
T |
G |
9: 38,410,868 (GRCm39) |
I301R |
unknown |
Het |
| Pip5k1c |
T |
C |
10: 81,148,349 (GRCm39) |
V425A |
probably damaging |
Het |
| Pnisr |
T |
A |
4: 21,873,857 (GRCm39) |
|
probably benign |
Het |
| Prkag1 |
A |
G |
15: 98,713,776 (GRCm39) |
V18A |
probably damaging |
Het |
| Rad50 |
T |
C |
11: 53,559,050 (GRCm39) |
N1063S |
probably benign |
Het |
| Rnf170 |
C |
T |
8: 26,619,171 (GRCm39) |
H132Y |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,328,498 (GRCm39) |
D1977G |
probably benign |
Het |
| Sema3a |
G |
A |
5: 13,607,092 (GRCm39) |
|
probably null |
Het |
| Setx |
T |
A |
2: 29,016,917 (GRCm39) |
C7S |
probably damaging |
Het |
| Slc23a2 |
A |
G |
2: 131,907,384 (GRCm39) |
I417T |
probably damaging |
Het |
| Spink6 |
T |
G |
18: 44,204,588 (GRCm39) |
F18C |
unknown |
Het |
| Sptbn1 |
T |
C |
11: 30,070,783 (GRCm39) |
Q1538R |
possibly damaging |
Het |
| Strn3 |
A |
G |
12: 51,699,609 (GRCm39) |
Y188H |
probably damaging |
Het |
| Tecpr1 |
C |
A |
5: 144,134,762 (GRCm39) |
K1040N |
probably benign |
Het |
| Tll1 |
T |
A |
8: 64,470,720 (GRCm39) |
Y901F |
probably benign |
Het |
| Tmem81 |
C |
T |
1: 132,435,635 (GRCm39) |
A147V |
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,565,758 (GRCm39) |
D532G |
probably benign |
Het |
| Vmn2r19 |
T |
A |
6: 123,313,411 (GRCm39) |
I827N |
probably benign |
Het |
| Wdr35 |
A |
G |
12: 9,070,000 (GRCm39) |
K857R |
probably benign |
Het |
| Zfp110 |
A |
G |
7: 12,582,569 (GRCm39) |
T406A |
probably benign |
Het |
| Zfp52 |
T |
C |
17: 21,782,084 (GRCm39) |
L644P |
possibly damaging |
Het |
| Zfp605 |
G |
A |
5: 110,275,451 (GRCm39) |
V190I |
probably benign |
Het |
| Zfp964 |
A |
G |
8: 70,116,733 (GRCm39) |
|
probably null |
Het |
| Zmynd8 |
A |
G |
2: 165,649,805 (GRCm39) |
S779P |
probably benign |
Het |
| Zswim5 |
T |
A |
4: 116,844,092 (GRCm39) |
N1043K |
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 |
|
|
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'- ACCCGTAGCCCAGCTACTTTATCAG -3'
(R):5'- AACAGATTCCAAGGCAAGGTCACTC -3'
Sequencing Primer
(F):5'- CCAGCTACTTTATCAGGAGTACAGTG -3'
(R):5'- ATGCTGGATTCTCAGAGCAC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation