Incidental Mutation 'R5817:Arhgef5'
| ID |
449092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef5
|
| Ensembl Gene |
ENSMUSG00000033542 |
| Gene Name |
Rho guanine nucleotide exchange factor 5 |
| Synonyms |
2210412D05Rik |
| MMRRC Submission |
043397-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5817 (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 43252038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 930
(D930N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031750]
|
| AlphaFold |
E9Q7D5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031750
AA Change: D930N
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: D930N
| 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 |
unknown
Transcript: ENSMUST00000182924
AA Change: D198N
|
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (71/71) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
A |
G |
4: 144,349,497 (GRCm39) |
I251M |
probably benign |
Het |
| Abcf3 |
T |
C |
16: 20,367,833 (GRCm39) |
V63A |
possibly damaging |
Het |
| Agpat4 |
C |
T |
17: 12,434,097 (GRCm39) |
|
probably benign |
Het |
| Ahcyl2 |
G |
A |
6: 29,890,720 (GRCm39) |
V292M |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,740,437 (GRCm39) |
F406I |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Cc2d2a |
G |
A |
5: 43,869,760 (GRCm39) |
R887Q |
probably damaging |
Het |
| Ceacam18 |
A |
G |
7: 43,291,265 (GRCm39) |
T236A |
probably benign |
Het |
| Chst15 |
A |
T |
7: 131,870,873 (GRCm39) |
Y221N |
probably damaging |
Het |
| Chst15 |
G |
A |
7: 131,870,876 (GRCm39) |
L220F |
probably damaging |
Het |
| Cntn2 |
G |
A |
1: 132,446,486 (GRCm39) |
T784I |
probably benign |
Het |
| D630003M21Rik |
A |
G |
2: 158,038,413 (GRCm39) |
L1011P |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 6,996,905 (GRCm39) |
D3894V |
probably damaging |
Het |
| Eif1ad19 |
G |
T |
12: 87,740,201 (GRCm39) |
D119E |
probably benign |
Het |
| Fam13b |
T |
C |
18: 34,590,850 (GRCm39) |
M443V |
possibly damaging |
Het |
| Fam20a |
T |
A |
11: 109,564,244 (GRCm39) |
Q503L |
possibly damaging |
Het |
| Ftdc2 |
T |
C |
16: 58,457,156 (GRCm39) |
I89V |
probably benign |
Het |
| Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5454 |
T |
A |
13: 103,493,140 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5581 |
A |
G |
6: 131,144,132 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6619 |
A |
G |
6: 131,463,400 (GRCm39) |
I6V |
unknown |
Het |
| Gmcl1 |
A |
G |
6: 86,691,230 (GRCm39) |
M255T |
probably damaging |
Het |
| Golm2 |
T |
A |
2: 121,736,525 (GRCm39) |
S231T |
probably benign |
Het |
| Gprc5c |
T |
A |
11: 114,754,450 (GRCm39) |
C42* |
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,613,275 (GRCm39) |
E1384V |
possibly damaging |
Het |
| Il6 |
A |
G |
5: 30,223,006 (GRCm39) |
I91V |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,760,244 (GRCm39) |
S1005T |
unknown |
Het |
| Map1a |
A |
T |
2: 121,129,391 (GRCm39) |
H143L |
possibly damaging |
Het |
| Mical2 |
A |
T |
7: 111,922,866 (GRCm39) |
T624S |
probably benign |
Het |
| Msh3 |
A |
T |
13: 92,422,508 (GRCm39) |
N549K |
possibly damaging |
Het |
| Ncr1 |
T |
A |
7: 4,343,894 (GRCm39) |
I164N |
possibly damaging |
Het |
| Or10ak11 |
T |
G |
4: 118,687,296 (GRCm39) |
T115P |
probably damaging |
Het |
| Or51a5 |
A |
T |
7: 102,771,115 (GRCm39) |
M292K |
possibly damaging |
Het |
| Or52m1 |
A |
G |
7: 102,289,585 (GRCm39) |
N44S |
probably damaging |
Het |
| Or8d2b |
A |
G |
9: 38,788,673 (GRCm39) |
D67G |
probably damaging |
Het |
| Palmd |
T |
C |
3: 116,712,272 (GRCm39) |
I541M |
probably benign |
Het |
| Pcsk7 |
A |
T |
9: 45,837,331 (GRCm39) |
M552L |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,879,154 (GRCm39) |
E626G |
possibly damaging |
Het |
| Pole |
G |
A |
5: 110,460,838 (GRCm39) |
D1176N |
probably damaging |
Het |
| Polr2f |
T |
C |
15: 79,035,869 (GRCm39) |
I110T |
probably damaging |
Het |
| Pomt1 |
A |
T |
2: 32,138,691 (GRCm39) |
I436F |
probably damaging |
Het |
| Prag1 |
A |
C |
8: 36,570,857 (GRCm39) |
Q480P |
probably damaging |
Het |
| Qars1 |
C |
T |
9: 108,387,441 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
G |
A |
2: 146,175,406 (GRCm39) |
S1797L |
probably damaging |
Het |
| Rbm26 |
T |
C |
14: 105,366,039 (GRCm39) |
T832A |
probably damaging |
Het |
| Rnf169 |
A |
G |
7: 99,574,976 (GRCm39) |
S540P |
probably benign |
Het |
| Serpini1 |
T |
A |
3: 75,520,631 (GRCm39) |
M76K |
probably benign |
Het |
| Shq1 |
A |
G |
6: 100,550,681 (GRCm39) |
L419S |
probably damaging |
Het |
| Slc25a17 |
G |
A |
15: 81,211,261 (GRCm39) |
T225M |
probably damaging |
Het |
| Slc6a5 |
C |
A |
7: 49,606,239 (GRCm39) |
L716I |
probably benign |
Het |
| Smc1b |
A |
G |
15: 84,951,984 (GRCm39) |
V1149A |
probably damaging |
Het |
| Trappc1 |
A |
T |
11: 69,215,060 (GRCm39) |
Q26L |
possibly damaging |
Het |
| Trpm2 |
C |
A |
10: 77,801,814 (GRCm39) |
G84W |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,573,010 (GRCm39) |
T24215M |
probably damaging |
Het |
| Ubn2 |
C |
A |
6: 38,456,088 (GRCm39) |
T337K |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,196,158 (GRCm39) |
K1265E |
probably damaging |
Het |
| Vmn1r214 |
T |
G |
13: 23,219,491 (GRCm39) |
I328M |
probably damaging |
Het |
| Xcr1 |
C |
T |
9: 123,684,922 (GRCm39) |
C280Y |
possibly damaging |
Het |
| Zc3h13 |
A |
G |
14: 75,565,572 (GRCm39) |
E895G |
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 |
|
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'- ATACATTCAGGAGGTCAAGCCAAG -3'
(R):5'- TGGATGCCTTCTCCAGTTGG -3'
Sequencing Primer
(F):5'- TCAAGACTGGACAGCTTCTACTC -3'
(R):5'- CCAGTTGGTGGTGGAGGG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation