Incidental Mutation 'R6981:Arhgef4'
ID |
542645 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef4
|
Ensembl Gene |
ENSMUSG00000037509 |
Gene Name |
Rho guanine nucleotide exchange factor 4 |
Synonyms |
Asef, 9330140K16Rik, C230030N03Rik |
MMRRC Submission |
045089-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6981 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
34717263-34851819 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 34761533 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Proline
at position 263
(Q263P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124213
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159747]
|
AlphaFold |
Q7TNR9 |
Predicted Effect |
unknown
Transcript: ENSMUST00000159747
AA Change: Q263P
|
SMART Domains |
Protein: ENSMUSP00000124213 Gene: ENSMUSG00000037509 AA Change: Q263P
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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
Validation Efficiency |
99% (68/69) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930438A08Rik |
G |
A |
11: 58,184,544 (GRCm39) |
|
probably benign |
Het |
5031439G07Rik |
A |
C |
15: 84,833,798 (GRCm39) |
Y419* |
probably null |
Het |
Abca2 |
T |
A |
2: 25,334,151 (GRCm39) |
F1809L |
probably damaging |
Het |
Ache |
C |
T |
5: 137,289,940 (GRCm39) |
T423I |
probably benign |
Het |
Acvrl1 |
A |
G |
15: 101,036,226 (GRCm39) |
T395A |
probably damaging |
Het |
Ap3b2 |
A |
G |
7: 81,127,741 (GRCm39) |
I145T |
probably damaging |
Het |
Asgr2 |
C |
T |
11: 69,987,636 (GRCm39) |
L45F |
probably damaging |
Het |
Baiap2l1 |
T |
A |
5: 144,222,389 (GRCm39) |
Y122F |
possibly damaging |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
Car8 |
A |
T |
4: 8,185,650 (GRCm39) |
|
probably null |
Het |
Carns1 |
T |
C |
19: 4,220,081 (GRCm39) |
T385A |
probably benign |
Het |
Ccdc47 |
T |
C |
11: 106,093,563 (GRCm39) |
T41A |
probably benign |
Het |
Ccne1 |
A |
T |
7: 37,797,998 (GRCm39) |
|
probably benign |
Het |
Cdh4 |
C |
T |
2: 179,439,297 (GRCm39) |
T148I |
probably benign |
Het |
Cep85 |
C |
T |
4: 133,879,572 (GRCm39) |
R392Q |
probably damaging |
Het |
Ces1h |
T |
C |
8: 94,080,123 (GRCm39) |
T464A |
unknown |
Het |
Cfl1 |
T |
A |
19: 5,542,644 (GRCm39) |
S41R |
possibly damaging |
Het |
Crnn |
T |
C |
3: 93,055,442 (GRCm39) |
V76A |
probably damaging |
Het |
Cspg4 |
A |
G |
9: 56,794,385 (GRCm39) |
T707A |
probably benign |
Het |
Dgkh |
A |
T |
14: 78,865,182 (GRCm39) |
C53* |
probably null |
Het |
Dhx34 |
G |
T |
7: 15,949,255 (GRCm39) |
A391E |
possibly damaging |
Het |
Dlx1 |
C |
A |
2: 71,362,697 (GRCm39) |
N201K |
probably benign |
Het |
Dnah6 |
T |
C |
6: 72,998,161 (GRCm39) |
E4087G |
probably benign |
Het |
Dock6 |
T |
C |
9: 21,756,846 (GRCm39) |
Y134C |
probably damaging |
Het |
Duox2 |
A |
G |
2: 122,121,708 (GRCm39) |
V662A |
possibly damaging |
Het |
Dusp12 |
A |
G |
1: 170,708,530 (GRCm39) |
F12L |
probably damaging |
Het |
Eppk1 |
T |
C |
15: 75,995,237 (GRCm39) |
E548G |
probably benign |
Het |
Foxj2 |
A |
G |
6: 122,819,798 (GRCm39) |
D562G |
probably benign |
Het |
Foxj2 |
A |
G |
6: 122,805,403 (GRCm39) |
I92V |
probably damaging |
Het |
Gm17728 |
A |
G |
17: 9,640,991 (GRCm39) |
R34G |
probably damaging |
Het |
Gpc6 |
T |
C |
14: 117,861,960 (GRCm39) |
I292T |
probably damaging |
Het |
Gpr15 |
T |
A |
16: 58,538,548 (GRCm39) |
K180N |
probably benign |
Het |
Gtf2ird1 |
G |
T |
5: 134,412,776 (GRCm39) |
|
probably benign |
Het |
H2ac12 |
A |
G |
13: 22,219,719 (GRCm39) |
S2P |
probably benign |
Het |
Hps3 |
T |
A |
3: 20,076,984 (GRCm39) |
T393S |
probably damaging |
Het |
Hspa1a |
A |
T |
17: 35,189,267 (GRCm39) |
|
probably null |
Het |
Hydin |
A |
G |
8: 111,257,704 (GRCm39) |
E2378G |
possibly damaging |
Het |
Ighv1-18 |
A |
G |
12: 114,646,298 (GRCm39) |
L102P |
probably damaging |
Het |
Itga5 |
T |
A |
15: 103,258,653 (GRCm39) |
N814I |
probably benign |
Het |
Kcnb2 |
T |
C |
1: 15,780,480 (GRCm39) |
S451P |
probably damaging |
Het |
Klhl32 |
T |
G |
4: 24,709,030 (GRCm39) |
I112L |
probably damaging |
Het |
Knstrn |
T |
G |
2: 118,664,575 (GRCm39) |
I47R |
possibly damaging |
Het |
Med23 |
T |
A |
10: 24,771,722 (GRCm39) |
S581T |
possibly damaging |
Het |
Mgat5 |
C |
T |
1: 127,318,588 (GRCm39) |
T361I |
probably damaging |
Het |
Nipal3 |
A |
G |
4: 135,206,858 (GRCm39) |
V112A |
probably damaging |
Het |
Or10a5 |
T |
A |
7: 106,635,956 (GRCm39) |
V198D |
possibly damaging |
Het |
Or2b2 |
A |
G |
13: 21,887,243 (GRCm39) |
E24G |
probably benign |
Het |
Or4k41 |
T |
C |
2: 111,279,697 (GRCm39) |
F71L |
probably benign |
Het |
Or5g27 |
A |
G |
2: 85,409,825 (GRCm39) |
M81V |
probably benign |
Het |
Paxip1 |
G |
A |
5: 27,970,766 (GRCm39) |
Q528* |
probably null |
Het |
Proser2 |
T |
C |
2: 6,118,801 (GRCm39) |
D14G |
probably damaging |
Het |
Rp1 |
T |
G |
1: 4,415,878 (GRCm39) |
I1745L |
probably benign |
Het |
Rxfp2 |
G |
T |
5: 149,972,313 (GRCm39) |
|
probably null |
Het |
Slc45a1 |
T |
C |
4: 150,723,051 (GRCm39) |
S278G |
possibly damaging |
Het |
Smurf1 |
A |
G |
5: 144,823,179 (GRCm39) |
I455T |
possibly damaging |
Het |
Speg |
T |
C |
1: 75,407,557 (GRCm39) |
L3188P |
probably damaging |
Het |
Tcaf3 |
G |
T |
6: 42,574,059 (GRCm39) |
A51D |
probably damaging |
Het |
Tecrl |
T |
C |
5: 83,502,768 (GRCm39) |
N12S |
possibly damaging |
Het |
Tmem17 |
T |
A |
11: 22,468,508 (GRCm39) |
I149N |
possibly damaging |
Het |
Tmem171 |
A |
G |
13: 98,828,976 (GRCm39) |
V58A |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,691,521 (GRCm39) |
|
probably benign |
Het |
Ubqln5 |
A |
G |
7: 103,777,808 (GRCm39) |
S339P |
probably benign |
Het |
Vmn1r16 |
T |
A |
6: 57,300,473 (GRCm39) |
I50L |
probably benign |
Het |
Vmn2r103 |
A |
T |
17: 20,013,739 (GRCm39) |
Y177F |
probably benign |
Het |
Zfp28 |
C |
A |
7: 6,397,692 (GRCm39) |
T709K |
probably damaging |
Het |
Zfp958 |
A |
G |
8: 4,676,170 (GRCm39) |
N46S |
probably benign |
Het |
Zyx |
T |
A |
6: 42,327,291 (GRCm39) |
V30E |
unknown |
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 |
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 |
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'- AAGTAGGGCCAATTTGTACCTTTCTG -3'
|
Posted On |
2018-11-28 |