Incidental Mutation 'R1780:Arhgef4'
ID |
197412 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef4
|
Ensembl Gene |
ENSMUSG00000037509 |
Gene Name |
Rho guanine nucleotide exchange factor 4 |
Synonyms |
Asef, 9330140K16Rik, C230030N03Rik |
MMRRC Submission |
039811-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1780 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
34717263-34851819 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 34763241 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 832
(S832R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124213
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159747]
|
AlphaFold |
Q7TNR9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159747
AA Change: S832R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000124213 Gene: ENSMUSG00000037509 AA Change: S832R
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.3%
|
Validation Efficiency |
98% (80/82) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl2 |
T |
C |
3: 148,558,229 (GRCm39) |
E493G |
probably damaging |
Het |
Aff3 |
A |
T |
1: 38,574,783 (GRCm39) |
S66T |
probably damaging |
Het |
Ankrd17 |
T |
A |
5: 90,380,274 (GRCm39) |
K2470N |
probably damaging |
Het |
Ap3m1 |
T |
C |
14: 21,091,138 (GRCm39) |
T156A |
probably benign |
Het |
Asb10 |
T |
C |
5: 24,738,674 (GRCm39) |
D423G |
possibly damaging |
Het |
Ash1l |
A |
G |
3: 88,873,291 (GRCm39) |
T25A |
probably benign |
Het |
Atp13a2 |
T |
A |
4: 140,729,771 (GRCm39) |
L663I |
possibly damaging |
Het |
Atp9b |
A |
T |
18: 80,820,112 (GRCm39) |
Y174* |
probably null |
Het |
Bche |
A |
G |
3: 73,607,953 (GRCm39) |
I491T |
probably benign |
Het |
Bckdhb |
T |
C |
9: 83,835,836 (GRCm39) |
|
probably null |
Het |
Cadps2 |
C |
T |
6: 23,320,931 (GRCm39) |
|
probably null |
Het |
Cdc42bpb |
A |
T |
12: 111,289,341 (GRCm39) |
V468E |
probably damaging |
Het |
Chrnd |
T |
C |
1: 87,120,270 (GRCm39) |
V33A |
possibly damaging |
Het |
Col6a5 |
A |
T |
9: 105,814,077 (GRCm39) |
V645D |
unknown |
Het |
Cpa1 |
C |
T |
6: 30,643,007 (GRCm39) |
L312F |
probably damaging |
Het |
Cyp2a5 |
A |
G |
7: 26,541,301 (GRCm39) |
|
probably benign |
Het |
Cyp2c39 |
C |
A |
19: 39,527,295 (GRCm39) |
|
probably benign |
Het |
Cyp2d26 |
T |
C |
15: 82,678,208 (GRCm39) |
N56S |
probably damaging |
Het |
Ddx21 |
A |
G |
10: 62,429,926 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
A |
T |
12: 117,991,293 (GRCm39) |
C2358S |
probably damaging |
Het |
Entpd8 |
T |
C |
2: 24,974,318 (GRCm39) |
S368P |
probably benign |
Het |
Epg5 |
A |
T |
18: 78,067,205 (GRCm39) |
Q2222L |
probably damaging |
Het |
Ercc5 |
T |
A |
1: 44,206,956 (GRCm39) |
V623E |
probably benign |
Het |
Flg2 |
A |
G |
3: 93,110,306 (GRCm39) |
E778G |
unknown |
Het |
Gbe1 |
C |
T |
16: 70,292,212 (GRCm39) |
R515* |
probably null |
Het |
Hsd17b6 |
A |
G |
10: 127,830,196 (GRCm39) |
|
probably null |
Het |
Hyal6 |
C |
T |
6: 24,734,031 (GRCm39) |
|
probably benign |
Het |
Ifi27l2b |
A |
G |
12: 103,417,578 (GRCm39) |
I203T |
probably damaging |
Het |
Kcnk9 |
A |
C |
15: 72,384,250 (GRCm39) |
D309E |
unknown |
Het |
Lrp6 |
C |
T |
6: 134,441,414 (GRCm39) |
R1184Q |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,700,103 (GRCm39) |
F1399L |
probably damaging |
Het |
Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
Mx1 |
T |
C |
16: 97,252,712 (GRCm39) |
*289W |
probably null |
Het |
Myo7b |
T |
C |
18: 32,094,238 (GRCm39) |
E1970G |
probably damaging |
Het |
Mypn |
T |
C |
10: 62,957,743 (GRCm39) |
Y24C |
probably damaging |
Het |
Naxe |
G |
C |
3: 87,964,440 (GRCm39) |
P167A |
probably benign |
Het |
Nmnat2 |
A |
T |
1: 152,988,186 (GRCm39) |
K272* |
probably null |
Het |
Nmnat3 |
C |
T |
9: 98,236,164 (GRCm39) |
T19M |
probably damaging |
Het |
Or4f52 |
T |
C |
2: 111,062,043 (GRCm39) |
I32V |
probably benign |
Het |
Or51b17 |
A |
T |
7: 103,542,762 (GRCm39) |
F60Y |
probably damaging |
Het |
Or51b4 |
A |
G |
7: 103,530,799 (GRCm39) |
V217A |
probably benign |
Het |
Or5b118 |
A |
G |
19: 13,448,726 (GRCm39) |
T131A |
probably benign |
Het |
Or9s27 |
G |
A |
1: 92,516,111 (GRCm39) |
V20M |
probably benign |
Het |
Pgm3 |
T |
G |
9: 86,438,257 (GRCm39) |
E509D |
probably damaging |
Het |
Phf3 |
A |
T |
1: 30,851,023 (GRCm39) |
D1110E |
probably damaging |
Het |
Pkd1 |
T |
G |
17: 24,800,543 (GRCm39) |
S3062A |
probably benign |
Het |
Pogz |
A |
T |
3: 94,777,437 (GRCm39) |
K372N |
possibly damaging |
Het |
Pou1f1 |
A |
G |
16: 65,320,356 (GRCm39) |
Y15C |
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,732,368 (GRCm39) |
T972A |
possibly damaging |
Het |
Rasip1 |
A |
G |
7: 45,284,742 (GRCm39) |
Y703C |
possibly damaging |
Het |
Recql |
T |
A |
6: 142,310,324 (GRCm39) |
Q502L |
probably benign |
Het |
Rgs9 |
A |
T |
11: 109,130,325 (GRCm39) |
Y383* |
probably null |
Het |
Rimbp3 |
T |
C |
16: 17,030,496 (GRCm39) |
S1307P |
probably benign |
Het |
Rspo1 |
A |
G |
4: 124,901,538 (GRCm39) |
T200A |
probably damaging |
Het |
Ryr3 |
C |
T |
2: 112,697,637 (GRCm39) |
M922I |
probably damaging |
Het |
Samm50 |
C |
T |
15: 84,095,328 (GRCm39) |
A438V |
probably damaging |
Het |
Sec1 |
A |
C |
7: 45,328,256 (GRCm39) |
S264A |
probably benign |
Het |
Sec31a |
A |
T |
5: 100,529,195 (GRCm39) |
|
probably null |
Het |
Slc13a3 |
T |
C |
2: 165,248,619 (GRCm39) |
N553S |
unknown |
Het |
Smg6 |
T |
A |
11: 74,836,942 (GRCm39) |
L852Q |
probably damaging |
Het |
Spata13 |
A |
G |
14: 60,929,174 (GRCm39) |
N244S |
probably damaging |
Het |
Srbd1 |
T |
C |
17: 86,365,113 (GRCm39) |
R648G |
probably damaging |
Het |
Sugct |
T |
G |
13: 17,627,039 (GRCm39) |
|
probably null |
Het |
Tmed10 |
A |
G |
12: 85,401,653 (GRCm39) |
Y85H |
probably damaging |
Het |
Trim68 |
A |
G |
7: 102,333,280 (GRCm39) |
I134T |
possibly damaging |
Het |
Trio |
A |
G |
15: 27,744,124 (GRCm39) |
C2603R |
possibly damaging |
Het |
Tspyl3 |
G |
A |
2: 153,067,176 (GRCm39) |
R21W |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,641,043 (GRCm39) |
I11863V |
probably null |
Het |
Ubp1 |
G |
A |
9: 113,793,647 (GRCm39) |
A283T |
possibly damaging |
Het |
Ubtf |
A |
T |
11: 102,205,744 (GRCm39) |
F60L |
probably damaging |
Het |
Vmn1r235 |
T |
C |
17: 21,481,999 (GRCm39) |
I108T |
probably benign |
Het |
Vmn2r125 |
T |
C |
4: 156,703,668 (GRCm39) |
S349P |
probably damaging |
Het |
Vmn2r25 |
A |
G |
6: 123,805,424 (GRCm39) |
S478P |
probably damaging |
Het |
Vmn2r88 |
T |
A |
14: 51,656,029 (GRCm39) |
V746D |
probably damaging |
Het |
Zcwpw1 |
A |
G |
5: 137,794,914 (GRCm39) |
K37E |
probably damaging |
Het |
Zdhhc24 |
T |
C |
19: 4,933,794 (GRCm39) |
S284P |
probably damaging |
Het |
Zswim8 |
C |
A |
14: 20,766,395 (GRCm39) |
H841N |
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 |
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 |
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'- GTCTTGGCTTCAAGCACCACAAC -3'
(R):5'- GCATCTTTGCTTCTCAGAAACGCAC -3'
Sequencing Primer
(F):5'- AGTTCCAGGAACCATGCG -3'
(R):5'- CCTTTGACAGAGCCAGTATTTG -3'
|
Posted On |
2014-05-23 |