Incidental Mutation 'R7973:Arhgef4'
| ID |
650689 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef4
|
| Ensembl Gene |
ENSMUSG00000037509 |
| Gene Name |
Rho guanine nucleotide exchange factor 4 |
| Synonyms |
Asef, 9330140K16Rik, C230030N03Rik |
| MMRRC Submission |
046016-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7973 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
34717263-34851819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34763518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 925
(R925W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159747]
|
| AlphaFold |
Q7TNR9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159747
AA Change: R925W
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124213
Gene: ENSMUSG00000037509
AA Change: R925W
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (53/54) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210016L21Rik |
A |
G |
5: 115,084,112 (GRCm39) |
D76G |
probably benign |
Het |
| Abcg1 |
T |
C |
17: 31,323,132 (GRCm39) |
V237A |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Akap11 |
A |
T |
14: 78,752,506 (GRCm39) |
H122Q |
|
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Arid1a |
C |
T |
4: 133,480,381 (GRCm39) |
G181D |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,960,164 (GRCm39) |
S2299T |
probably benign |
Het |
| Atf7ip |
C |
T |
6: 136,538,062 (GRCm39) |
Q432* |
probably null |
Het |
| B430306N03Rik |
T |
A |
17: 48,623,483 (GRCm39) |
S10T |
probably benign |
Het |
| Bckdk |
A |
G |
7: 127,505,539 (GRCm39) |
I221V |
probably benign |
Het |
| Brinp2 |
T |
C |
1: 158,074,057 (GRCm39) |
Y688C |
probably damaging |
Het |
| Caml |
C |
T |
13: 55,779,784 (GRCm39) |
L286F |
probably benign |
Het |
| Ccdc125 |
C |
T |
13: 100,806,331 (GRCm39) |
|
probably benign |
Het |
| Cdh24 |
A |
T |
14: 54,876,477 (GRCm39) |
V116E |
possibly damaging |
Het |
| Cenpe |
T |
A |
3: 134,929,011 (GRCm39) |
I305N |
probably damaging |
Het |
| Cep41 |
C |
T |
6: 30,680,130 (GRCm39) |
G33S |
probably damaging |
Het |
| Clec4b2 |
A |
T |
6: 123,181,148 (GRCm39) |
I178L |
probably benign |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,909,377 (GRCm39) |
L1330Q |
probably damaging |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Fmnl1 |
G |
T |
11: 103,061,984 (GRCm39) |
|
probably benign |
Het |
| Galk1 |
A |
G |
11: 115,903,435 (GRCm39) |
F24L |
possibly damaging |
Het |
| Hyal4 |
T |
A |
6: 24,755,785 (GRCm39) |
M1K |
probably null |
Het |
| Ighe |
T |
C |
12: 113,236,677 (GRCm39) |
T64A |
|
Het |
| Iqch |
A |
G |
9: 63,432,228 (GRCm39) |
I389T |
possibly damaging |
Het |
| Ism2 |
G |
T |
12: 87,333,769 (GRCm39) |
T92K |
possibly damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Kdm1b |
T |
C |
13: 47,230,922 (GRCm39) |
S650P |
probably benign |
Het |
| Mapkapk5 |
T |
G |
5: 121,663,776 (GRCm39) |
N426T |
possibly damaging |
Het |
| Mroh5 |
G |
T |
15: 73,664,614 (GRCm39) |
Y90* |
probably null |
Het |
| Ncan |
T |
G |
8: 70,550,225 (GRCm39) |
I1184L |
probably benign |
Het |
| Nectin3 |
T |
C |
16: 46,216,484 (GRCm39) |
T439A |
probably benign |
Het |
| Neo1 |
G |
T |
9: 58,897,476 (GRCm39) |
A160E |
probably damaging |
Het |
| Nosip |
T |
C |
7: 44,726,784 (GRCm39) |
S295P |
possibly damaging |
Het |
| Nup205 |
T |
A |
6: 35,222,274 (GRCm39) |
F1979L |
probably benign |
Het |
| Nxpe2 |
A |
T |
9: 48,231,168 (GRCm39) |
D400E |
probably damaging |
Het |
| Or4a73 |
T |
A |
2: 89,421,331 (GRCm39) |
I43F |
probably damaging |
Het |
| Pfkfb4 |
G |
A |
9: 108,854,179 (GRCm39) |
R351Q |
probably damaging |
Het |
| Psg29 |
T |
C |
7: 16,944,462 (GRCm39) |
I324T |
probably benign |
Het |
| Ptprh |
G |
T |
7: 4,583,887 (GRCm39) |
T235N |
possibly damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,230,481 (GRCm39) |
N981I |
possibly damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,036,651 (GRCm39) |
Y421C |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,542,922 (GRCm39) |
E845G |
possibly damaging |
Het |
| Sgk1 |
G |
T |
10: 21,870,054 (GRCm39) |
S31I |
probably benign |
Het |
| Sim1 |
T |
G |
10: 50,857,419 (GRCm39) |
Y390D |
probably damaging |
Het |
| Slain2 |
T |
A |
5: 73,112,779 (GRCm39) |
Y271* |
probably null |
Het |
| Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,881,590 (GRCm39) |
|
probably null |
Het |
| Supv3l1 |
A |
T |
10: 62,285,202 (GRCm39) |
L88Q |
probably damaging |
Het |
| Syt2 |
C |
A |
1: 134,668,570 (GRCm39) |
|
probably null |
Het |
| Tpr |
C |
T |
1: 150,279,638 (GRCm39) |
R256C |
probably damaging |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Usp32 |
A |
G |
11: 84,913,634 (GRCm39) |
I899T |
probably damaging |
Het |
| Usp6nl |
G |
T |
2: 6,413,762 (GRCm39) |
R96M |
probably damaging |
Het |
| Vmn1r75 |
A |
G |
7: 11,614,961 (GRCm39) |
D231G |
probably benign |
Het |
| Vmn2r42 |
T |
C |
7: 8,197,872 (GRCm39) |
E249G |
probably benign |
Het |
| Zbtb34 |
C |
T |
2: 33,301,531 (GRCm39) |
G337R |
probably benign |
Het |
| Zfp457 |
T |
A |
13: 67,441,882 (GRCm39) |
H231L |
probably benign |
Het |
| Zfp715 |
C |
T |
7: 42,949,321 (GRCm39) |
G213D |
possibly damaging |
Het |
| Zfp760 |
T |
G |
17: 21,941,084 (GRCm39) |
H86Q |
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 |
|
|
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'- CTGGTGTGATTCAAGTAGGGAC -3'
(R):5'- GTCCAGTGCTCCCCAAATAC -3'
Sequencing Primer
(F):5'- TCAGCGGTGAAGGACCTTC -3'
(R):5'- CCAAATACATGGCTGTCGGTGTC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation