Incidental Mutation 'R1437:Arhgef4'
| ID |
161264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef4
|
| Ensembl Gene |
ENSMUSG00000037509 |
| Gene Name |
Rho guanine nucleotide exchange factor 4 |
| Synonyms |
Asef, 9330140K16Rik, C230030N03Rik |
| MMRRC Submission |
039492-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1437 (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 34763026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 761
(T761A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159747]
|
| AlphaFold |
Q7TNR9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000159747
AA Change: T761A
|
| SMART Domains |
Protein: ENSMUSP00000124213
Gene: ENSMUSG00000037509
AA Change: T761A
| 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 |
noncoding transcript
Transcript: ENSMUST00000195242
AA Change: H287R
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202507
AA Change: H287R
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 87.3%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,871,436 (GRCm39) |
V330E |
possibly damaging |
Het |
| Abcb5 |
A |
G |
12: 118,838,497 (GRCm39) |
S1022P |
probably damaging |
Het |
| Abcc8 |
A |
G |
7: 45,829,237 (GRCm39) |
I46T |
probably damaging |
Het |
| Add3 |
A |
G |
19: 53,222,109 (GRCm39) |
R275G |
probably damaging |
Het |
| Akap1 |
C |
A |
11: 88,735,577 (GRCm39) |
G362* |
probably null |
Het |
| Asap1 |
A |
T |
15: 63,991,956 (GRCm39) |
L751Q |
probably damaging |
Het |
| Atg2a |
C |
A |
19: 6,300,646 (GRCm39) |
P741H |
probably damaging |
Het |
| Atxn10 |
T |
C |
15: 85,243,675 (GRCm39) |
I46T |
possibly damaging |
Het |
| BC049715 |
C |
A |
6: 136,817,090 (GRCm39) |
A110E |
probably damaging |
Het |
| Bltp1 |
C |
A |
3: 36,996,578 (GRCm39) |
H1097N |
possibly damaging |
Het |
| Btbd7 |
T |
A |
12: 102,754,349 (GRCm39) |
T806S |
possibly damaging |
Het |
| Cdk4 |
C |
A |
10: 126,900,558 (GRCm39) |
P108H |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,407,963 (GRCm39) |
T2391A |
probably benign |
Het |
| Col6a3 |
G |
T |
1: 90,729,098 (GRCm39) |
A1281E |
probably damaging |
Het |
| Cpa5 |
A |
T |
6: 30,624,654 (GRCm39) |
I165F |
probably damaging |
Het |
| Ctdp1 |
G |
T |
18: 80,493,428 (GRCm39) |
Q356K |
probably benign |
Het |
| Ddx21 |
A |
G |
10: 62,434,369 (GRCm39) |
M130T |
unknown |
Het |
| Epha5 |
T |
G |
5: 84,381,555 (GRCm39) |
D432A |
probably damaging |
Het |
| Esr1 |
ACGCCGCCGCCGCCGCCGCCGCCGCCGCC |
ACGCCGCCGCCGCCGCCGCCGCCGCC |
10: 4,662,571 (GRCm39) |
|
probably benign |
Het |
| Fads2 |
A |
T |
19: 10,069,193 (GRCm39) |
L77Q |
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,186,731 (GRCm39) |
H1723Q |
possibly damaging |
Het |
| Fbxo42 |
C |
T |
4: 140,895,165 (GRCm39) |
H43Y |
probably benign |
Het |
| Fry |
A |
G |
5: 150,233,890 (GRCm39) |
T121A |
possibly damaging |
Het |
| Gpr156 |
T |
G |
16: 37,808,904 (GRCm39) |
S209A |
probably damaging |
Het |
| Hey2 |
T |
C |
10: 30,709,845 (GRCm39) |
T303A |
probably benign |
Het |
| Hivep1 |
T |
A |
13: 42,310,616 (GRCm39) |
M952K |
probably benign |
Het |
| Hydin |
C |
T |
8: 111,308,617 (GRCm39) |
Q3968* |
probably null |
Het |
| Jup |
T |
C |
11: 100,274,402 (GRCm39) |
E96G |
probably benign |
Het |
| Kcnn1 |
A |
G |
8: 71,297,195 (GRCm39) |
I504T |
probably benign |
Het |
| Klk1b9 |
T |
C |
7: 43,629,114 (GRCm39) |
V174A |
probably damaging |
Het |
| Lama3 |
G |
C |
18: 12,682,284 (GRCm39) |
M1083I |
possibly damaging |
Het |
| Lcmt2 |
A |
G |
2: 120,969,377 (GRCm39) |
S569P |
probably benign |
Het |
| Lrfn2 |
T |
C |
17: 49,378,253 (GRCm39) |
S445P |
probably damaging |
Het |
| Lrp3 |
C |
A |
7: 34,912,595 (GRCm39) |
G31W |
probably damaging |
Het |
| Lrrc8b |
T |
C |
5: 105,629,568 (GRCm39) |
L638P |
probably damaging |
Het |
| Mief2 |
C |
T |
11: 60,621,769 (GRCm39) |
T113M |
probably benign |
Het |
| Mrps2 |
T |
C |
2: 28,358,899 (GRCm39) |
F76S |
probably damaging |
Het |
| Naca |
A |
G |
10: 127,878,048 (GRCm39) |
|
probably benign |
Het |
| Ndst4 |
C |
A |
3: 125,355,099 (GRCm39) |
R336S |
probably damaging |
Het |
| Nr1i3 |
CACTCAACACTAC |
CAC |
1: 171,044,710 (GRCm39) |
|
probably null |
Het |
| Nr5a1 |
T |
A |
2: 38,600,685 (GRCm39) |
T29S |
probably benign |
Het |
| Or5ak23 |
T |
C |
2: 85,245,218 (GRCm39) |
I2V |
probably benign |
Het |
| Or5as1 |
C |
T |
2: 86,980,115 (GRCm39) |
V297M |
possibly damaging |
Het |
| Pald1 |
A |
G |
10: 61,177,064 (GRCm39) |
F662S |
possibly damaging |
Het |
| Pdcd4 |
G |
T |
19: 53,897,674 (GRCm39) |
A59S |
probably damaging |
Het |
| Pde4a |
T |
C |
9: 21,103,888 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,814,106 (GRCm39) |
S4159T |
probably damaging |
Het |
| Plaat1 |
C |
A |
16: 29,046,922 (GRCm39) |
A147E |
possibly damaging |
Het |
| Plch1 |
C |
A |
3: 63,604,954 (GRCm39) |
R1641L |
probably benign |
Het |
| Plec |
G |
T |
15: 76,073,481 (GRCm39) |
P308Q |
probably damaging |
Het |
| Pnkp |
A |
G |
7: 44,509,826 (GRCm39) |
S262G |
possibly damaging |
Het |
| Pou2f1 |
A |
G |
1: 165,719,399 (GRCm39) |
V504A |
probably damaging |
Het |
| Prepl |
G |
A |
17: 85,395,785 (GRCm39) |
R66W |
probably damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,167,396 (GRCm39) |
K226E |
probably damaging |
Het |
| Ror1 |
T |
A |
4: 100,269,306 (GRCm39) |
F381L |
probably benign |
Het |
| Sbsn |
C |
T |
7: 30,452,478 (GRCm39) |
Q498* |
probably null |
Het |
| Scgb2b19 |
T |
C |
7: 32,977,980 (GRCm39) |
I106V |
probably benign |
Het |
| Sf3a2 |
G |
A |
10: 80,640,040 (GRCm39) |
|
probably benign |
Het |
| Sis |
T |
C |
3: 72,841,475 (GRCm39) |
H780R |
probably damaging |
Het |
| Slc28a3 |
G |
T |
13: 58,706,389 (GRCm39) |
C617* |
probably null |
Het |
| Slc44a1 |
T |
A |
4: 53,561,006 (GRCm39) |
V574D |
probably damaging |
Het |
| Slc8a3 |
T |
A |
12: 81,362,760 (GRCm39) |
T20S |
probably damaging |
Het |
| Stt3b |
T |
A |
9: 115,083,995 (GRCm39) |
I394F |
probably damaging |
Het |
| Ubap1l |
T |
A |
9: 65,279,337 (GRCm39) |
V212D |
possibly damaging |
Het |
| Ugt2b35 |
T |
C |
5: 87,148,890 (GRCm39) |
V47A |
probably benign |
Het |
| Vmn2r114 |
A |
G |
17: 23,510,185 (GRCm39) |
F765S |
probably damaging |
Het |
| Vps50 |
C |
T |
6: 3,517,852 (GRCm39) |
Q97* |
probably null |
Het |
| Vsig10 |
A |
G |
5: 117,489,635 (GRCm39) |
Q467R |
probably damaging |
Het |
| Wdsub1 |
T |
G |
2: 59,708,477 (GRCm39) |
Y11S |
probably damaging |
Het |
| Zbtb11 |
T |
G |
16: 55,811,983 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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'- GCAATGAATGTGAGCTGCTGGGATG -3'
(R):5'- GGCAAACTGGGTTCAAGTCCTCTG -3'
Sequencing Primer
(F):5'- AGGACTTCTTCGGATGACAC -3'
(R):5'- CAAGTCCTCTGAGGTTAAGGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation