Incidental Mutation 'R5154:Arhgef4'
| ID |
396543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef4
|
| Ensembl Gene |
ENSMUSG00000037509 |
| Gene Name |
Rho guanine nucleotide exchange factor 4 |
| Synonyms |
Asef, 9330140K16Rik, C230030N03Rik |
| MMRRC Submission |
042736-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5154 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
34717263-34851819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34771455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1254
(M1254K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159747]
[ENSMUST00000162599]
|
| AlphaFold |
Q7TNR9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159747
AA Change: M1254K
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124213
Gene: ENSMUSG00000037509
AA Change: M1254K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
573 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
686 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
915 |
926 |
N/A |
INTRINSIC |
|
low complexity region
|
1119 |
1137 |
N/A |
INTRINSIC |
|
low complexity region
|
1240 |
1254 |
N/A |
INTRINSIC |
|
SH3
|
1361 |
1416 |
3.73e-16 |
SMART |
|
RhoGEF
|
1453 |
1632 |
3.86e-56 |
SMART |
|
PH
|
1665 |
1773 |
2.33e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162599
AA Change: M87K
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000124906
Gene: ENSMUSG00000037509
AA Change: M87K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
87 |
N/A |
INTRINSIC |
|
SH3
|
194 |
249 |
3.73e-16 |
SMART |
|
Pfam:RhoGEF
|
304 |
405 |
1.2e-25 |
PFAM |
|
PH
|
438 |
546 |
2.33e-14 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| 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 that are initiated by extracellular stimuli that work through G protein coupled receptors. The protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased angiogenesis, vascular endothelial cell migration, tumor growth, and tumor vascularization. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, other(1) |
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
C |
4: 39,450,938 (GRCm39) |
H48P |
probably damaging |
Het |
| Angptl7 |
C |
T |
4: 148,581,882 (GRCm39) |
R168H |
probably damaging |
Het |
| Ankrd11 |
A |
C |
8: 123,619,878 (GRCm39) |
F1325V |
probably damaging |
Het |
| Ankrd13c |
A |
G |
3: 157,694,297 (GRCm39) |
D266G |
possibly damaging |
Het |
| Apold1 |
A |
T |
6: 134,960,636 (GRCm39) |
H30L |
possibly damaging |
Het |
| Arel1 |
A |
G |
12: 84,978,547 (GRCm39) |
F362L |
probably benign |
Het |
| Arid2 |
T |
A |
15: 96,299,866 (GRCm39) |
V1793E |
probably damaging |
Het |
| Bcl7a |
T |
C |
5: 123,507,422 (GRCm39) |
S156P |
probably damaging |
Het |
| Cbr3 |
A |
G |
16: 93,482,027 (GRCm39) |
I128V |
probably benign |
Het |
| Cct6b |
G |
A |
11: 82,630,521 (GRCm39) |
P299L |
probably damaging |
Het |
| Cd180 |
A |
T |
13: 102,842,282 (GRCm39) |
N443Y |
probably damaging |
Het |
| Cd80 |
A |
G |
16: 38,294,342 (GRCm39) |
K75R |
probably benign |
Het |
| Cdk1 |
A |
T |
10: 69,176,298 (GRCm39) |
|
probably benign |
Het |
| Cep192 |
T |
A |
18: 67,983,755 (GRCm39) |
F1565I |
probably damaging |
Het |
| Chtf18 |
T |
C |
17: 25,942,694 (GRCm39) |
T412A |
probably damaging |
Het |
| Cit |
T |
C |
5: 116,126,464 (GRCm39) |
L1590P |
probably damaging |
Het |
| Clcn2 |
T |
A |
16: 20,522,053 (GRCm39) |
R845S |
probably benign |
Het |
| Cndp2 |
C |
T |
18: 84,686,727 (GRCm39) |
V432I |
probably benign |
Het |
| Cnnm2 |
A |
T |
19: 46,751,571 (GRCm39) |
R454W |
probably benign |
Het |
| Cpne8 |
T |
G |
15: 90,384,121 (GRCm39) |
I480L |
probably benign |
Het |
| Cr2 |
A |
G |
1: 194,841,754 (GRCm39) |
W400R |
probably damaging |
Het |
| Cul5 |
A |
G |
9: 53,537,167 (GRCm39) |
L528P |
probably damaging |
Het |
| Dlgap5 |
C |
T |
14: 47,651,177 (GRCm39) |
V119M |
probably damaging |
Het |
| Dnah12 |
T |
C |
14: 26,571,320 (GRCm39) |
S190P |
probably benign |
Het |
| Dnah3 |
T |
A |
7: 119,551,642 (GRCm39) |
K2881N |
probably damaging |
Het |
| Dnmt3a |
A |
T |
12: 3,946,008 (GRCm39) |
I288F |
probably damaging |
Het |
| Dse |
T |
A |
10: 34,029,657 (GRCm39) |
T478S |
possibly damaging |
Het |
| Edn1 |
C |
T |
13: 42,458,499 (GRCm39) |
T104I |
probably benign |
Het |
| Eef2 |
GCCC |
GCCCC |
10: 81,014,601 (GRCm39) |
|
probably null |
Het |
| Eprs1 |
A |
G |
1: 185,145,662 (GRCm39) |
H1157R |
probably damaging |
Het |
| Fam168b |
G |
A |
1: 34,857,180 (GRCm39) |
T179I |
possibly damaging |
Het |
| Fzd5 |
A |
G |
1: 64,775,131 (GRCm39) |
V210A |
probably benign |
Het |
| Gm9742 |
T |
C |
13: 8,085,081 (GRCm39) |
|
noncoding transcript |
Het |
| Gpc1 |
G |
A |
1: 92,784,751 (GRCm39) |
G308D |
probably damaging |
Het |
| Gpr141 |
C |
T |
13: 19,936,412 (GRCm39) |
R121K |
probably benign |
Het |
| Greb1l |
A |
G |
18: 10,458,312 (GRCm39) |
T30A |
probably benign |
Het |
| Grk3 |
A |
T |
5: 113,089,583 (GRCm39) |
I281N |
probably damaging |
Het |
| Hnrnpdl |
A |
T |
5: 100,184,371 (GRCm39) |
Y289* |
probably null |
Het |
| Hsf2 |
T |
G |
10: 57,380,808 (GRCm39) |
V214G |
probably benign |
Het |
| Igf2bp1 |
G |
A |
11: 95,854,373 (GRCm39) |
Q563* |
probably null |
Het |
| Il31ra |
T |
A |
13: 112,660,531 (GRCm39) |
D605V |
possibly damaging |
Het |
| Insm2 |
G |
A |
12: 55,646,982 (GRCm39) |
C242Y |
probably damaging |
Het |
| Ints3 |
C |
T |
3: 90,322,868 (GRCm39) |
V121I |
probably benign |
Het |
| Kcnt2 |
A |
T |
1: 140,278,994 (GRCm39) |
L48F |
possibly damaging |
Het |
| Kit |
G |
A |
5: 75,801,200 (GRCm39) |
V529M |
probably damaging |
Het |
| Mark2 |
G |
A |
19: 7,260,439 (GRCm39) |
P13S |
probably damaging |
Het |
| Mthfsd |
A |
G |
8: 121,825,479 (GRCm39) |
V364A |
probably damaging |
Het |
| Mtmr11 |
C |
G |
3: 96,071,636 (GRCm39) |
S185R |
probably benign |
Het |
| Myot |
A |
G |
18: 44,487,281 (GRCm39) |
I373V |
probably benign |
Het |
| N4bp3 |
A |
T |
11: 51,536,139 (GRCm39) |
V231D |
probably benign |
Het |
| Or5t17 |
T |
C |
2: 86,832,382 (GRCm39) |
V23A |
probably benign |
Het |
| Or8k39 |
A |
T |
2: 86,563,121 (GRCm39) |
Y278* |
probably null |
Het |
| Pdcd6ip |
A |
G |
9: 113,520,610 (GRCm39) |
F125L |
probably damaging |
Het |
| Prpf39 |
A |
T |
12: 65,095,051 (GRCm39) |
Q124L |
probably benign |
Het |
| Reln |
A |
T |
5: 22,193,763 (GRCm39) |
N1398K |
probably damaging |
Het |
| Rhod |
A |
T |
19: 4,482,122 (GRCm39) |
D97E |
probably damaging |
Het |
| Rxra |
T |
C |
2: 27,647,880 (GRCm39) |
|
probably null |
Het |
| Slc1a3 |
T |
C |
15: 8,672,433 (GRCm39) |
I349V |
probably benign |
Het |
| Slc37a2 |
A |
T |
9: 37,142,939 (GRCm39) |
*502R |
probably null |
Het |
| Slc9b1 |
T |
C |
3: 135,078,940 (GRCm39) |
I199T |
probably damaging |
Het |
| Spart |
C |
T |
3: 55,024,750 (GRCm39) |
P115L |
probably damaging |
Het |
| Tnpo1 |
A |
T |
13: 99,006,813 (GRCm39) |
C205S |
possibly damaging |
Het |
| Tubb1 |
T |
A |
2: 174,298,657 (GRCm39) |
I113N |
probably benign |
Het |
| Tyrp1 |
G |
A |
4: 80,768,954 (GRCm39) |
V483I |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,215,757 (GRCm39) |
S100G |
probably benign |
Het |
| Zfhx3 |
A |
T |
8: 109,527,207 (GRCm39) |
I1035F |
probably damaging |
Het |
| Zfp618 |
G |
T |
4: 63,051,446 (GRCm39) |
K742N |
probably damaging |
Het |
| Zfp873 |
T |
C |
10: 81,896,025 (GRCm39) |
V252A |
possibly damaging |
Het |
|
| Other mutations in Arhgef4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00896:Arhgef4
|
APN |
1 |
34,850,777 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02376:Arhgef4
|
APN |
1 |
34,845,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02604:Arhgef4
|
APN |
1 |
34,850,804 (GRCm39) |
nonsense |
probably null |
|
|
IGL03240:Arhgef4
|
APN |
1 |
34,845,107 (GRCm39) |
missense |
probably benign |
0.03 |
|
BB004:Arhgef4
|
UTSW |
1 |
34,846,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB014:Arhgef4
|
UTSW |
1 |
34,846,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0095:Arhgef4
|
UTSW |
1 |
34,771,451 (GRCm39) |
nonsense |
probably null |
|
|
R0157:Arhgef4
|
UTSW |
1 |
34,845,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Arhgef4
|
UTSW |
1 |
34,846,080 (GRCm39) |
splice site |
probably null |
|
|
R0383:Arhgef4
|
UTSW |
1 |
34,849,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0440:Arhgef4
|
UTSW |
1 |
34,784,529 (GRCm39) |
splice site |
probably null |
|
|
R0452:Arhgef4
|
UTSW |
1 |
34,771,403 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0893:Arhgef4
|
UTSW |
1 |
34,846,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1429:Arhgef4
|
UTSW |
1 |
34,849,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Arhgef4
|
UTSW |
1 |
34,763,026 (GRCm39) |
missense |
unknown |
|
|
R1669:Arhgef4
|
UTSW |
1 |
34,771,239 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1780:Arhgef4
|
UTSW |
1 |
34,763,241 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1809:Arhgef4
|
UTSW |
1 |
34,849,636 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1879:Arhgef4
|
UTSW |
1 |
34,761,521 (GRCm39) |
missense |
unknown |
|
|
R1908:Arhgef4
|
UTSW |
1 |
34,763,340 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1919:Arhgef4
|
UTSW |
1 |
34,850,221 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2020:Arhgef4
|
UTSW |
1 |
34,762,891 (GRCm39) |
missense |
unknown |
|
|
R2058:Arhgef4
|
UTSW |
1 |
34,761,458 (GRCm39) |
missense |
unknown |
|
|
R2213:Arhgef4
|
UTSW |
1 |
34,846,230 (GRCm39) |
splice site |
probably null |
|
|
R2851:Arhgef4
|
UTSW |
1 |
34,763,129 (GRCm39) |
missense |
unknown |
|
|
R2852:Arhgef4
|
UTSW |
1 |
34,763,129 (GRCm39) |
missense |
unknown |
|
|
R2853:Arhgef4
|
UTSW |
1 |
34,763,129 (GRCm39) |
missense |
unknown |
|
|
R3697:Arhgef4
|
UTSW |
1 |
34,761,521 (GRCm39) |
missense |
unknown |
|
|
R4012:Arhgef4
|
UTSW |
1 |
34,764,187 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4118:Arhgef4
|
UTSW |
1 |
34,771,428 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4133:Arhgef4
|
UTSW |
1 |
34,845,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4534:Arhgef4
|
UTSW |
1 |
34,762,162 (GRCm39) |
missense |
unknown |
|
|
R4535:Arhgef4
|
UTSW |
1 |
34,762,162 (GRCm39) |
missense |
unknown |
|
|
R4581:Arhgef4
|
UTSW |
1 |
34,771,205 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4665:Arhgef4
|
UTSW |
1 |
34,845,113 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4678:Arhgef4
|
UTSW |
1 |
34,761,749 (GRCm39) |
missense |
unknown |
|
|
R4684:Arhgef4
|
UTSW |
1 |
34,850,866 (GRCm39) |
splice site |
probably null |
|
|
R4706:Arhgef4
|
UTSW |
1 |
34,771,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4745:Arhgef4
|
UTSW |
1 |
34,846,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4747:Arhgef4
|
UTSW |
1 |
34,762,355 (GRCm39) |
missense |
unknown |
|
|
R4988:Arhgef4
|
UTSW |
1 |
34,762,535 (GRCm39) |
missense |
unknown |
|
|
R5063:Arhgef4
|
UTSW |
1 |
34,763,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5156:Arhgef4
|
UTSW |
1 |
34,762,355 (GRCm39) |
missense |
unknown |
|
|
R5263:Arhgef4
|
UTSW |
1 |
34,764,078 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5450:Arhgef4
|
UTSW |
1 |
34,846,405 (GRCm39) |
intron |
probably benign |
|
|
R5807:Arhgef4
|
UTSW |
1 |
34,846,696 (GRCm39) |
intron |
probably benign |
|
|
R5863:Arhgef4
|
UTSW |
1 |
34,761,926 (GRCm39) |
missense |
unknown |
|
|
R6034:Arhgef4
|
UTSW |
1 |
34,760,984 (GRCm39) |
missense |
unknown |
|
|
R6034:Arhgef4
|
UTSW |
1 |
34,760,984 (GRCm39) |
missense |
unknown |
|
|
R6311:Arhgef4
|
UTSW |
1 |
34,763,062 (GRCm39) |
missense |
unknown |
|
|
R6315:Arhgef4
|
UTSW |
1 |
34,762,558 (GRCm39) |
missense |
unknown |
|
|
R6316:Arhgef4
|
UTSW |
1 |
34,762,558 (GRCm39) |
missense |
unknown |
|
|
R6318:Arhgef4
|
UTSW |
1 |
34,762,558 (GRCm39) |
missense |
unknown |
|
|
R6323:Arhgef4
|
UTSW |
1 |
34,762,558 (GRCm39) |
missense |
unknown |
|
|
R6324:Arhgef4
|
UTSW |
1 |
34,762,558 (GRCm39) |
missense |
unknown |
|
|
R6325:Arhgef4
|
UTSW |
1 |
34,762,558 (GRCm39) |
missense |
unknown |
|
|
R6340:Arhgef4
|
UTSW |
1 |
34,771,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6835:Arhgef4
|
UTSW |
1 |
34,845,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6981:Arhgef4
|
UTSW |
1 |
34,761,533 (GRCm39) |
missense |
unknown |
|
|
R7087:Arhgef4
|
UTSW |
1 |
34,850,767 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7297:Arhgef4
|
UTSW |
1 |
34,846,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7525:Arhgef4
|
UTSW |
1 |
34,848,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7614:Arhgef4
|
UTSW |
1 |
34,771,316 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7693:Arhgef4
|
UTSW |
1 |
34,763,222 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7892:Arhgef4
|
UTSW |
1 |
34,760,885 (GRCm39) |
missense |
unknown |
|
|
R7895:Arhgef4
|
UTSW |
1 |
34,845,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7927:Arhgef4
|
UTSW |
1 |
34,846,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7965:Arhgef4
|
UTSW |
1 |
34,850,762 (GRCm39) |
missense |
probably benign |
|
|
R7973:Arhgef4
|
UTSW |
1 |
34,763,518 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7979:Arhgef4
|
UTSW |
1 |
34,760,978 (GRCm39) |
missense |
unknown |
|
|
R8160:Arhgef4
|
UTSW |
1 |
34,762,655 (GRCm39) |
missense |
unknown |
|
|
R8175:Arhgef4
|
UTSW |
1 |
34,849,455 (GRCm39) |
missense |
probably benign |
|
|
R8178:Arhgef4
|
UTSW |
1 |
34,761,983 (GRCm39) |
missense |
unknown |
|
|
R9046:Arhgef4
|
UTSW |
1 |
34,850,846 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9077:Arhgef4
|
UTSW |
1 |
34,760,824 (GRCm39) |
missense |
unknown |
|
|
R9209:Arhgef4
|
UTSW |
1 |
34,849,576 (GRCm39) |
missense |
probably benign |
|
|
R9209:Arhgef4
|
UTSW |
1 |
34,764,241 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9355:Arhgef4
|
UTSW |
1 |
34,849,630 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9489:Arhgef4
|
UTSW |
1 |
34,761,745 (GRCm39) |
missense |
unknown |
|
|
R9509:Arhgef4
|
UTSW |
1 |
34,762,772 (GRCm39) |
missense |
unknown |
|
|
R9605:Arhgef4
|
UTSW |
1 |
34,761,745 (GRCm39) |
missense |
unknown |
|
|
R9665:Arhgef4
|
UTSW |
1 |
34,849,518 (GRCm39) |
missense |
probably benign |
|
|
R9675:Arhgef4
|
UTSW |
1 |
34,845,108 (GRCm39) |
missense |
probably benign |
|
|
R9790:Arhgef4
|
UTSW |
1 |
34,832,445 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9791:Arhgef4
|
UTSW |
1 |
34,832,445 (GRCm39) |
critical splice donor site |
probably null |
|
|
RF012:Arhgef4
|
UTSW |
1 |
34,763,565 (GRCm39) |
small deletion |
probably benign |
|
|
X0062:Arhgef4
|
UTSW |
1 |
34,763,308 (GRCm39) |
missense |
probably benign |
0.35 |
|
YA93:Arhgef4
|
UTSW |
1 |
34,771,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Arhgef4
|
UTSW |
1 |
34,844,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Arhgef4
|
UTSW |
1 |
34,762,810 (GRCm39) |
missense |
unknown |
|
|
Z1177:Arhgef4
|
UTSW |
1 |
34,763,340 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Arhgef4
|
UTSW |
1 |
34,762,447 (GRCm39) |
missense |
unknown |
|
|
Z1177:Arhgef4
|
UTSW |
1 |
34,762,002 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGCAATTGTTCCCATGATCAG -3'
(R):5'- GGCACTCAGGAGACTAACTAAC -3'
Sequencing Primer
(F):5'- CCGGTATCTGCCACTGAAGTG -3'
(R):5'- ACTAACTAACACATAGGATCAGAGTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation