Incidental Mutation 'R5613:Arhgef5'
| ID |
438078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef5
|
| Ensembl Gene |
ENSMUSG00000033542 |
| Gene Name |
Rho guanine nucleotide exchange factor 5 |
| Synonyms |
2210412D05Rik |
| MMRRC Submission |
043274-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5613 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
43242578-43266254 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43250997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 583
(T583A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031750]
|
| AlphaFold |
E9Q7D5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031750
AA Change: T583A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: T583A
| 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 |
0.0594 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.9%
- 20x: 97.0%
|
| Validation Efficiency |
98% (59/60) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430097D07Rik |
T |
C |
2: 32,465,346 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
A |
C |
13: 70,878,253 (GRCm39) |
S1171A |
probably benign |
Het |
| Agtr1b |
T |
C |
3: 20,370,424 (GRCm39) |
T61A |
probably damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,590,334 (GRCm39) |
D257G |
possibly damaging |
Het |
| Camk2g |
T |
C |
14: 20,787,559 (GRCm39) |
N423S |
probably damaging |
Het |
| Cand1 |
A |
T |
10: 119,051,228 (GRCm39) |
H293Q |
possibly damaging |
Het |
| Chd4 |
A |
C |
6: 125,097,509 (GRCm39) |
E1359D |
probably damaging |
Het |
| Creb3 |
T |
C |
4: 43,566,196 (GRCm39) |
C264R |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,814,770 (GRCm39) |
D2171G |
probably damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,272,799 (GRCm39) |
L138Q |
probably damaging |
Het |
| Dclk1 |
A |
G |
3: 55,424,360 (GRCm39) |
T380A |
probably benign |
Het |
| Dnm2 |
T |
A |
9: 21,383,963 (GRCm39) |
I248N |
probably damaging |
Het |
| Dtx4 |
A |
T |
19: 12,462,767 (GRCm39) |
S337R |
probably damaging |
Het |
| Dus3l |
T |
C |
17: 57,074,882 (GRCm39) |
S335P |
possibly damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,599,254 (GRCm39) |
Y1870H |
possibly damaging |
Het |
| Eral1 |
G |
A |
11: 77,965,230 (GRCm39) |
|
probably benign |
Het |
| Eya1 |
G |
T |
1: 14,373,153 (GRCm39) |
|
probably benign |
Het |
| Fbxw28 |
T |
A |
9: 109,167,601 (GRCm39) |
Y52F |
probably benign |
Het |
| Fcgbpl1 |
A |
T |
7: 27,842,303 (GRCm39) |
|
probably benign |
Het |
| Gm5600 |
A |
G |
7: 113,307,293 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5901 |
A |
G |
7: 105,026,532 (GRCm39) |
Y100C |
probably damaging |
Het |
| Haus3 |
A |
G |
5: 34,325,173 (GRCm39) |
L162P |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,015,239 (GRCm39) |
I1802T |
probably damaging |
Het |
| Klf7 |
G |
A |
1: 64,081,555 (GRCm39) |
R258C |
probably damaging |
Het |
| Mapt |
A |
G |
11: 104,193,216 (GRCm39) |
N66D |
possibly damaging |
Het |
| Mypop |
G |
A |
7: 18,725,901 (GRCm39) |
|
probably benign |
Het |
| Nefm |
T |
A |
14: 68,358,583 (GRCm39) |
K484* |
probably null |
Het |
| Nup153 |
A |
C |
13: 46,840,747 (GRCm39) |
S954A |
possibly damaging |
Het |
| Or13c7 |
G |
A |
4: 43,854,528 (GRCm39) |
C73Y |
probably damaging |
Het |
| Or4a78 |
T |
C |
2: 89,497,388 (GRCm39) |
N281D |
probably damaging |
Het |
| Pkn1 |
C |
T |
8: 84,404,390 (GRCm39) |
A543T |
probably benign |
Het |
| Ppp1r11 |
C |
A |
17: 37,262,380 (GRCm39) |
G7W |
probably damaging |
Het |
| Prss52 |
A |
T |
14: 64,346,951 (GRCm39) |
N42Y |
possibly damaging |
Het |
| Ptger2 |
T |
G |
14: 45,226,960 (GRCm39) |
V180G |
possibly damaging |
Het |
| Rep15 |
G |
T |
6: 146,934,352 (GRCm39) |
V64F |
possibly damaging |
Het |
| Rfpl4b |
T |
A |
10: 38,697,373 (GRCm39) |
Q76L |
probably benign |
Het |
| Slc11a1 |
G |
A |
1: 74,420,065 (GRCm39) |
G191D |
probably damaging |
Het |
| Slc16a12 |
T |
C |
19: 34,652,358 (GRCm39) |
M263V |
probably benign |
Het |
| Spdye4c |
A |
T |
2: 128,434,889 (GRCm39) |
Q95L |
possibly damaging |
Het |
| Srfbp1 |
G |
A |
18: 52,616,717 (GRCm39) |
D81N |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,431,978 (GRCm39) |
V731M |
possibly damaging |
Het |
| Susd6 |
G |
T |
12: 80,915,308 (GRCm39) |
G98C |
probably damaging |
Het |
| Tlr4 |
T |
A |
4: 66,759,122 (GRCm39) |
S638R |
possibly damaging |
Het |
| Tnfsf13 |
G |
T |
11: 69,574,821 (GRCm39) |
|
probably null |
Het |
| Tnfsf18 |
A |
G |
1: 161,331,297 (GRCm39) |
N149S |
possibly damaging |
Het |
| Tor1aip1 |
T |
C |
1: 155,909,499 (GRCm39) |
K176E |
probably damaging |
Het |
| Trav10 |
A |
T |
14: 53,743,483 (GRCm39) |
H28L |
probably benign |
Het |
| Trim30a |
T |
A |
7: 104,079,389 (GRCm39) |
K155N |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,858,159 (GRCm39) |
D333G |
probably damaging |
Het |
| Tssk1 |
T |
C |
16: 17,712,364 (GRCm39) |
S50P |
probably benign |
Het |
| Ttll9 |
CAAA |
CAA |
2: 152,815,521 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,739,996 (GRCm39) |
|
probably benign |
Het |
| Vmn2r115 |
A |
T |
17: 23,564,307 (GRCm39) |
I160L |
probably benign |
Het |
| Wdr95 |
A |
T |
5: 149,507,935 (GRCm39) |
D396V |
probably damaging |
Het |
| Zbtb47 |
T |
A |
9: 121,596,585 (GRCm39) |
I647N |
probably damaging |
Het |
| Zfp799 |
T |
C |
17: 33,038,964 (GRCm39) |
Y433C |
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 |
|
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'- GCCACCTTGTCACCTGTTAG -3'
(R):5'- CAGAGTCCTGTTTCAAAGCAAAC -3'
Sequencing Primer
(F):5'- TGTCACCTGTTAGCTCTTCAG -3'
(R):5'- GGAGTCTGAAAAGACGATACCATCC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation