Incidental Mutation 'R1879:Arhgef4'
ID |
211356 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef4
|
Ensembl Gene |
ENSMUSG00000037509 |
Gene Name |
Rho guanine nucleotide exchange factor 4 |
Synonyms |
Asef, 9330140K16Rik, C230030N03Rik |
MMRRC Submission |
039900-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1879 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
34717263-34851819 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34761521 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 259
(D259G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124213
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159747]
|
AlphaFold |
Q7TNR9 |
Predicted Effect |
unknown
Transcript: ENSMUST00000159747
AA Change: D259G
|
SMART Domains |
Protein: ENSMUSP00000124213 Gene: ENSMUSG00000037509 AA Change: D259G
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 |
|
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.6%
- 10x: 94.9%
- 20x: 91.6%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
T |
C |
2: 30,686,488 (GRCm39) |
D268G |
possibly damaging |
Het |
Abce1 |
T |
C |
8: 80,414,085 (GRCm39) |
N542S |
probably benign |
Het |
Abcf1 |
T |
A |
17: 36,272,704 (GRCm39) |
E260D |
probably benign |
Het |
Ahcy |
A |
G |
2: 154,906,072 (GRCm39) |
|
probably null |
Het |
Akap13 |
C |
T |
7: 75,260,475 (GRCm39) |
A1033V |
probably benign |
Het |
Alkbh6 |
A |
G |
7: 30,011,320 (GRCm39) |
N46S |
probably damaging |
Het |
Ankrd34c |
A |
C |
9: 89,612,126 (GRCm39) |
L72V |
probably damaging |
Het |
Arf4 |
T |
A |
14: 26,368,076 (GRCm39) |
N25K |
probably damaging |
Het |
Cavin1 |
C |
A |
11: 100,861,036 (GRCm39) |
G86V |
probably damaging |
Het |
Ces1d |
G |
A |
8: 93,916,126 (GRCm39) |
T167I |
probably benign |
Het |
Cfb |
T |
C |
17: 35,079,536 (GRCm39) |
I754V |
probably benign |
Het |
Clcnkb |
C |
T |
4: 141,135,130 (GRCm39) |
R536H |
possibly damaging |
Het |
Clpb |
T |
G |
7: 101,355,690 (GRCm39) |
S181R |
probably benign |
Het |
Col1a1 |
T |
C |
11: 94,842,051 (GRCm39) |
M1366T |
unknown |
Het |
Cped1 |
T |
A |
6: 22,085,014 (GRCm39) |
|
probably null |
Het |
Crip1 |
G |
A |
12: 113,116,952 (GRCm39) |
C82Y |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,520,915 (GRCm39) |
T2810A |
possibly damaging |
Het |
Cyp2b9 |
A |
T |
7: 25,897,994 (GRCm39) |
D266V |
probably damaging |
Het |
Cyp46a1 |
A |
G |
12: 108,319,385 (GRCm39) |
D294G |
probably damaging |
Het |
Depp1 |
G |
A |
6: 116,628,683 (GRCm39) |
V9M |
possibly damaging |
Het |
Dst |
A |
G |
1: 34,227,924 (GRCm39) |
E1514G |
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,591,070 (GRCm39) |
E1046G |
probably benign |
Het |
Eya2 |
T |
C |
2: 165,506,726 (GRCm39) |
V4A |
probably benign |
Het |
Frem3 |
A |
T |
8: 81,338,567 (GRCm39) |
R287* |
probably null |
Het |
Fuca2 |
T |
A |
10: 13,383,000 (GRCm39) |
C323S |
possibly damaging |
Het |
Ggt7 |
T |
C |
2: 155,356,707 (GRCm39) |
E4G |
possibly damaging |
Het |
Gli1 |
C |
T |
10: 127,169,606 (GRCm39) |
R383H |
probably damaging |
Het |
Gm4559 |
C |
A |
7: 141,827,998 (GRCm39) |
V35F |
unknown |
Het |
Gpm6a |
T |
A |
8: 55,490,365 (GRCm39) |
C14S |
probably damaging |
Het |
Hcn2 |
A |
T |
10: 79,562,023 (GRCm39) |
I340F |
probably benign |
Het |
Hdac9 |
T |
A |
12: 34,440,332 (GRCm39) |
D349V |
probably damaging |
Het |
Krt34 |
T |
C |
11: 99,929,118 (GRCm39) |
D364G |
possibly damaging |
Het |
Mon2 |
C |
T |
10: 122,838,790 (GRCm39) |
R1565H |
probably damaging |
Het |
Myb |
T |
A |
10: 21,017,876 (GRCm39) |
M482L |
probably benign |
Het |
Nckap1l |
A |
T |
15: 103,373,028 (GRCm39) |
I294F |
probably benign |
Het |
Nr2e1 |
A |
G |
10: 42,444,367 (GRCm39) |
|
probably null |
Het |
Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
Or1j16 |
G |
T |
2: 36,530,201 (GRCm39) |
R50M |
possibly damaging |
Het |
Or1r1 |
T |
A |
11: 73,875,368 (GRCm39) |
D22V |
probably benign |
Het |
Or4k38 |
A |
T |
2: 111,165,808 (GRCm39) |
I205N |
possibly damaging |
Het |
Or52h7 |
T |
C |
7: 104,214,118 (GRCm39) |
V230A |
possibly damaging |
Het |
Pde8b |
A |
T |
13: 95,221,723 (GRCm39) |
I308N |
possibly damaging |
Het |
Pdzd2 |
T |
C |
15: 12,373,986 (GRCm39) |
R2050G |
possibly damaging |
Het |
Phc3 |
C |
A |
3: 30,968,607 (GRCm39) |
S840I |
probably damaging |
Het |
Piezo2 |
T |
A |
18: 63,247,031 (GRCm39) |
Y327F |
probably damaging |
Het |
Pnliprp1 |
A |
T |
19: 58,732,516 (GRCm39) |
I460F |
probably benign |
Het |
Pphln1 |
T |
G |
15: 93,321,927 (GRCm39) |
D35E |
probably damaging |
Het |
Prdm6 |
G |
A |
18: 53,701,289 (GRCm39) |
V360I |
probably damaging |
Het |
Rab35 |
T |
A |
5: 115,778,219 (GRCm39) |
W62R |
probably damaging |
Het |
Sct |
G |
T |
7: 140,858,612 (GRCm39) |
P70Q |
probably damaging |
Het |
Sdf4 |
A |
G |
4: 156,094,304 (GRCm39) |
N328S |
probably damaging |
Het |
Senp5 |
A |
T |
16: 31,802,642 (GRCm39) |
S488R |
probably damaging |
Het |
Serpina3n |
A |
G |
12: 104,375,213 (GRCm39) |
E95G |
probably benign |
Het |
Sfswap |
C |
T |
5: 129,618,392 (GRCm39) |
A442V |
probably benign |
Het |
Sgcd |
T |
C |
11: 47,246,068 (GRCm39) |
I45V |
probably benign |
Het |
Sgcg |
T |
C |
14: 61,474,346 (GRCm39) |
|
probably null |
Het |
Slc39a12 |
G |
T |
2: 14,448,868 (GRCm39) |
V489L |
probably benign |
Het |
Slc5a11 |
T |
A |
7: 122,838,671 (GRCm39) |
I96N |
possibly damaging |
Het |
Slc6a12 |
A |
G |
6: 121,324,382 (GRCm39) |
D2G |
probably damaging |
Het |
Slc8a1 |
T |
C |
17: 81,955,442 (GRCm39) |
D532G |
probably damaging |
Het |
Smarcd3 |
C |
A |
5: 24,798,019 (GRCm39) |
C465F |
probably damaging |
Het |
Smc1b |
T |
A |
15: 84,976,268 (GRCm39) |
Q813L |
probably benign |
Het |
Spag1 |
G |
A |
15: 36,181,916 (GRCm39) |
E25K |
probably damaging |
Het |
Sptan1 |
A |
T |
2: 29,885,540 (GRCm39) |
N715I |
probably damaging |
Het |
Tas1r2 |
T |
A |
4: 139,397,006 (GRCm39) |
Y782N |
probably damaging |
Het |
Thap3 |
A |
T |
4: 152,067,593 (GRCm39) |
C162S |
probably benign |
Het |
Topaz1 |
T |
A |
9: 122,578,684 (GRCm39) |
D531E |
possibly damaging |
Het |
Vmn1r25 |
C |
T |
6: 57,955,912 (GRCm39) |
A126T |
possibly damaging |
Het |
Zfhx2 |
A |
G |
14: 55,303,074 (GRCm39) |
F1637L |
probably benign |
Het |
Zfhx2 |
T |
C |
14: 55,310,206 (GRCm39) |
Y780C |
possibly damaging |
Het |
Zfp513 |
T |
G |
5: 31,357,767 (GRCm39) |
K202T |
probably damaging |
Het |
Zfp956 |
A |
T |
6: 47,940,678 (GRCm39) |
T346S |
probably benign |
Het |
Zkscan1 |
C |
T |
5: 138,095,410 (GRCm39) |
A219V |
probably 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 |
|
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 |
R5154:Arhgef4
|
UTSW |
1 |
34,771,455 (GRCm39) |
missense |
probably benign |
0.43 |
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'- TGCTTTCGTCGACACTGTG -3'
(R):5'- GCAAGTAGGGCCAATTTGTACC -3'
Sequencing Primer
(F):5'- TCGTCGACACTGTGAACTAG -3'
(R):5'- GCTTCAGAGGCTCTTTAGGACAAC -3'
|
Posted On |
2014-06-30 |