Incidental Mutation 'R9790:Arhgef4'
ID |
735847 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef4
|
Ensembl Gene |
ENSMUSG00000037509 |
Gene Name |
Rho guanine nucleotide exchange factor 4 |
Synonyms |
Asef, 9330140K16Rik, C230030N03Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9790 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
34717263-34851819 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 34832445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124213
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159021]
[ENSMUST00000159747]
[ENSMUST00000162599]
|
AlphaFold |
Q7TNR9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000159021
|
SMART Domains |
Protein: ENSMUSP00000124467 Gene: ENSMUSG00000037509
Domain | Start | End | E-Value | Type |
SH3
|
1 |
45 |
6.97e-7 |
SMART |
Pfam:RhoGEF
|
82 |
190 |
3.4e-29 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000159747
|
SMART Domains |
Protein: ENSMUSP00000124213 Gene: ENSMUSG00000037509
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
|
SMART Domains |
Protein: ENSMUSP00000124906 Gene: ENSMUSG00000037509
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: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.4%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
T |
C |
5: 8,748,604 (GRCm39) |
Y312H |
probably damaging |
Het |
Abcc10 |
A |
T |
17: 46,633,185 (GRCm39) |
I549N |
probably damaging |
Het |
Agpat2 |
A |
G |
2: 26,486,395 (GRCm39) |
Y134H |
probably damaging |
Het |
Alms1 |
A |
G |
6: 85,596,425 (GRCm39) |
D417G |
probably benign |
Het |
Apol11b |
T |
A |
15: 77,519,475 (GRCm39) |
I202F |
probably benign |
Het |
Arap1 |
C |
A |
7: 101,037,376 (GRCm39) |
Q468K |
probably benign |
Het |
Asap3 |
A |
T |
4: 135,961,914 (GRCm39) |
N285I |
probably damaging |
Het |
Aspm |
A |
T |
1: 139,408,375 (GRCm39) |
I2421F |
probably damaging |
Het |
Banp |
C |
A |
8: 122,701,285 (GRCm39) |
D17E |
probably benign |
Het |
Bsx |
T |
G |
9: 40,788,905 (GRCm39) |
V154G |
probably damaging |
Het |
Cacnb1 |
T |
C |
11: 97,900,186 (GRCm39) |
D324G |
probably damaging |
Het |
Ccdc170 |
A |
T |
10: 4,483,957 (GRCm39) |
|
probably null |
Het |
Ccdc187 |
T |
C |
2: 26,171,227 (GRCm39) |
H417R |
probably benign |
Het |
Cct4 |
T |
A |
11: 22,949,070 (GRCm39) |
M272K |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,760,417 (GRCm39) |
E2054G |
possibly damaging |
Het |
Ctnnal1 |
A |
T |
4: 56,844,584 (GRCm39) |
S127T |
possibly damaging |
Het |
Cttnbp2 |
T |
A |
6: 18,376,027 (GRCm39) |
H1504L |
probably benign |
Het |
Cyp4a29 |
T |
A |
4: 115,108,380 (GRCm39) |
M368K |
probably damaging |
Het |
Dhx32 |
A |
G |
7: 133,326,267 (GRCm39) |
F527L |
probably benign |
Het |
Foxk1 |
T |
C |
5: 142,387,739 (GRCm39) |
V154A |
probably damaging |
Het |
Frem3 |
G |
A |
8: 81,339,890 (GRCm39) |
E728K |
probably benign |
Het |
Garem2 |
C |
A |
5: 30,319,747 (GRCm39) |
A403E |
probably benign |
Het |
Gemin5 |
G |
A |
11: 58,020,846 (GRCm39) |
Q1114* |
probably null |
Het |
Gm11567 |
C |
T |
11: 99,770,274 (GRCm39) |
R71C |
unknown |
Het |
Gm13272 |
T |
C |
4: 88,698,442 (GRCm39) |
V119A |
probably benign |
Het |
Gpc6 |
T |
A |
14: 117,163,435 (GRCm39) |
C30S |
probably damaging |
Het |
Gprc6a |
A |
C |
10: 51,491,395 (GRCm39) |
F785V |
probably damaging |
Het |
Hormad1 |
T |
C |
3: 95,494,693 (GRCm39) |
V368A |
probably benign |
Het |
Hsd17b4 |
G |
A |
18: 50,324,907 (GRCm39) |
|
probably null |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Il17ra |
C |
T |
6: 120,459,240 (GRCm39) |
S797F |
probably damaging |
Het |
Jmjd6 |
A |
G |
11: 116,733,438 (GRCm39) |
S80P |
probably benign |
Het |
Klhdc2 |
T |
A |
12: 69,346,995 (GRCm39) |
N53K |
probably benign |
Het |
Klhl30 |
C |
T |
1: 91,282,089 (GRCm39) |
P230L |
probably benign |
Het |
Marchf1 |
C |
A |
8: 66,729,339 (GRCm39) |
A46E |
probably benign |
Het |
Mast4 |
T |
C |
13: 102,890,705 (GRCm39) |
T1050A |
probably benign |
Het |
Mpp7 |
T |
C |
18: 7,355,049 (GRCm39) |
N459S |
probably benign |
Het |
Mtfr1l |
A |
G |
4: 134,258,063 (GRCm39) |
V53A |
probably benign |
Het |
Myh11 |
T |
A |
16: 14,025,992 (GRCm39) |
E1326V |
|
Het |
Myh3 |
A |
G |
11: 66,992,005 (GRCm39) |
E1850G |
probably damaging |
Het |
Myo16 |
A |
G |
8: 10,619,925 (GRCm39) |
D1492G |
unknown |
Het |
Myo3b |
C |
A |
2: 70,180,287 (GRCm39) |
H1219Q |
probably benign |
Het |
Nphp4 |
A |
T |
4: 152,646,605 (GRCm39) |
Q1379L |
probably null |
Het |
Or8g30 |
C |
T |
9: 39,230,815 (GRCm39) |
V32I |
probably benign |
Het |
Or9q1 |
A |
G |
19: 13,804,914 (GRCm39) |
I282T |
probably benign |
Het |
Osbpl6 |
T |
G |
2: 76,385,361 (GRCm39) |
L265R |
probably damaging |
Het |
Pld4 |
A |
G |
12: 112,734,862 (GRCm39) |
T440A |
probably damaging |
Het |
Prr14 |
T |
C |
7: 127,071,128 (GRCm39) |
M1T |
probably null |
Het |
Ptger4 |
A |
T |
15: 5,273,178 (GRCm39) |
M1K |
probably null |
Het |
Ptpn22 |
A |
T |
3: 103,795,842 (GRCm39) |
T608S |
possibly damaging |
Het |
S1pr2 |
A |
G |
9: 20,879,319 (GRCm39) |
W170R |
probably damaging |
Het |
Specc1l |
A |
G |
10: 75,066,603 (GRCm39) |
I17M |
probably benign |
Het |
Spmap1 |
T |
A |
11: 97,666,594 (GRCm39) |
I31F |
probably benign |
Het |
Sptbn4 |
C |
G |
7: 27,071,662 (GRCm39) |
G1601R |
probably damaging |
Het |
Sqor |
C |
T |
2: 122,626,912 (GRCm39) |
P11L |
probably benign |
Het |
Stac2 |
T |
C |
11: 97,934,449 (GRCm39) |
D85G |
probably benign |
Het |
Svs5 |
G |
A |
2: 164,078,918 (GRCm39) |
Q330* |
probably null |
Het |
Taar7e |
A |
G |
10: 23,913,554 (GRCm39) |
I15V |
probably benign |
Het |
Tcf4 |
A |
T |
18: 69,770,007 (GRCm39) |
Y275F |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,538,046 (GRCm39) |
N1873S |
probably damaging |
Het |
Tert |
T |
A |
13: 73,775,648 (GRCm39) |
V133D |
probably benign |
Het |
Tfap2a |
T |
A |
13: 40,870,658 (GRCm39) |
N410I |
probably damaging |
Het |
Tjp3 |
A |
T |
10: 81,109,694 (GRCm39) |
D836E |
probably benign |
Het |
Tox3 |
A |
T |
8: 90,975,206 (GRCm39) |
M475K |
unknown |
Het |
Traf4 |
A |
T |
11: 78,050,979 (GRCm39) |
D392E |
probably damaging |
Het |
Vav2 |
A |
G |
2: 27,181,825 (GRCm39) |
L338P |
probably damaging |
Het |
Vmn1r81 |
T |
C |
7: 11,994,113 (GRCm39) |
N165S |
probably benign |
Het |
Vmn2r9 |
A |
T |
5: 108,995,409 (GRCm39) |
V413E |
probably damaging |
Het |
Wdr7 |
A |
T |
18: 63,911,059 (GRCm39) |
D817V |
probably damaging |
Het |
Zbtb38 |
G |
A |
9: 96,570,700 (GRCm39) |
S128L |
probably damaging |
Het |
Zfhx4 |
T |
A |
3: 5,464,922 (GRCm39) |
H1718Q |
probably damaging |
Het |
Zfp945 |
G |
A |
17: 23,071,228 (GRCm39) |
H245Y |
probably benign |
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 |
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 |
|
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'- GCTGCTTCTATAATCGCCCAG -3'
(R):5'- TTCCTTAAACACACGGCGG -3'
Sequencing Primer
(F):5'- TTCGCCATGAGCTCAGC -3'
(R):5'- GGCGCTATATAAATGCCTCACGATG -3'
|
Posted On |
2022-11-14 |