Incidental Mutation 'R5807:Arhgef4'
ID |
448557 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef4
|
Ensembl Gene |
ENSMUSG00000037509 |
Gene Name |
Rho guanine nucleotide exchange factor 4 |
Synonyms |
Asef, 9330140K16Rik, C230030N03Rik |
MMRRC Submission |
043393-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5807 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
34717263-34851819 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 34846696 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124906
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047664]
[ENSMUST00000159021]
[ENSMUST00000159747]
[ENSMUST00000160855]
[ENSMUST00000162599]
|
AlphaFold |
Q7TNR9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047664
|
SMART Domains |
Protein: ENSMUSP00000035980 Gene: ENSMUSG00000037509
Domain | Start | End | E-Value | Type |
SH3
|
1 |
45 |
6.97e-7 |
SMART |
RhoGEF
|
82 |
261 |
3.86e-56 |
SMART |
PH
|
294 |
402 |
2.33e-14 |
SMART |
|
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 |
noncoding transcript
Transcript: ENSMUST00000159059
|
Predicted Effect |
probably benign
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: ENSMUST00000160855
|
SMART Domains |
Protein: ENSMUSP00000124207 Gene: ENSMUSG00000037509
Domain | Start | End | E-Value | Type |
SH3
|
1 |
45 |
6.97e-7 |
SMART |
Pfam:RhoGEF
|
82 |
187 |
1.2e-21 |
PFAM |
low complexity region
|
194 |
211 |
N/A |
INTRINSIC |
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162760
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193040
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
98% (65/66) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,342,651 (GRCm39) |
L943P |
probably damaging |
Het |
Abcg5 |
C |
A |
17: 84,979,719 (GRCm39) |
V214F |
probably damaging |
Het |
Ang |
T |
A |
14: 51,338,886 (GRCm39) |
|
probably benign |
Het |
Arfgef3 |
A |
G |
10: 18,523,546 (GRCm39) |
|
probably null |
Het |
Atp11b |
T |
C |
3: 35,866,428 (GRCm39) |
I409T |
probably damaging |
Het |
Atp5f1b |
G |
A |
10: 127,924,431 (GRCm39) |
|
probably benign |
Het |
Atp9a |
G |
A |
2: 168,495,454 (GRCm39) |
A660V |
probably damaging |
Het |
Avpr1a |
A |
G |
10: 122,285,376 (GRCm39) |
T223A |
probably benign |
Het |
Bmp2k |
T |
C |
5: 97,211,353 (GRCm39) |
M507T |
unknown |
Het |
Cep295 |
A |
G |
9: 15,243,828 (GRCm39) |
S287P |
probably damaging |
Het |
Chrna7 |
T |
A |
7: 62,798,349 (GRCm39) |
D111V |
probably damaging |
Het |
Clxn |
A |
T |
16: 14,734,836 (GRCm39) |
I69F |
probably benign |
Het |
Cnr2 |
A |
G |
4: 135,644,747 (GRCm39) |
D275G |
probably benign |
Het |
Col28a1 |
T |
A |
6: 8,158,144 (GRCm39) |
M305L |
probably benign |
Het |
Cpb1 |
T |
A |
3: 20,317,906 (GRCm39) |
D206V |
probably damaging |
Het |
Cyp2c50 |
T |
C |
19: 40,101,944 (GRCm39) |
L453S |
probably damaging |
Het |
Ddx52 |
T |
G |
11: 83,840,508 (GRCm39) |
S284A |
probably benign |
Het |
Eif2ak4 |
G |
T |
2: 118,219,332 (GRCm39) |
R48L |
probably benign |
Het |
Esrrb |
A |
G |
12: 86,561,175 (GRCm39) |
E303G |
possibly damaging |
Het |
Fbxo21 |
A |
G |
5: 118,114,933 (GRCm39) |
E23G |
probably benign |
Het |
Fcamr |
T |
C |
1: 130,739,263 (GRCm39) |
S188P |
probably damaging |
Het |
Fer1l6 |
C |
A |
15: 58,462,399 (GRCm39) |
S818* |
probably null |
Het |
Fn1 |
T |
C |
1: 71,687,218 (GRCm39) |
D213G |
probably damaging |
Het |
Gcg |
A |
G |
2: 62,306,069 (GRCm39) |
I176T |
possibly damaging |
Het |
Glis1 |
T |
A |
4: 107,425,279 (GRCm39) |
S109T |
probably benign |
Het |
Gm266 |
T |
C |
12: 111,452,173 (GRCm39) |
D11G |
probably benign |
Het |
Gm5070 |
C |
A |
3: 95,317,965 (GRCm39) |
|
noncoding transcript |
Het |
Gm8444 |
T |
C |
15: 81,727,654 (GRCm39) |
|
probably benign |
Het |
Golga4 |
A |
G |
9: 118,356,198 (GRCm39) |
T117A |
probably damaging |
Het |
Gpr132 |
G |
A |
12: 112,816,416 (GRCm39) |
R137C |
probably damaging |
Het |
Gvin-ps5 |
T |
A |
7: 105,929,430 (GRCm39) |
|
noncoding transcript |
Het |
Herc2 |
T |
A |
7: 55,880,667 (GRCm39) |
F4766L |
probably damaging |
Het |
Inhbc |
C |
A |
10: 127,193,411 (GRCm39) |
E202* |
probably null |
Het |
Kcnu1 |
C |
T |
8: 26,339,742 (GRCm39) |
T20I |
possibly damaging |
Het |
Klhdc3 |
T |
C |
17: 46,988,391 (GRCm39) |
D161G |
probably damaging |
Het |
Krt84 |
T |
A |
15: 101,438,647 (GRCm39) |
K280M |
probably damaging |
Het |
Krtap9-5 |
T |
A |
11: 99,839,895 (GRCm39) |
C199S |
unknown |
Het |
Mrgprb3 |
A |
G |
7: 48,293,110 (GRCm39) |
V147A |
probably benign |
Het |
Ndufs6 |
A |
T |
13: 73,475,553 (GRCm39) |
F48L |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,970,476 (GRCm39) |
S2586G |
probably damaging |
Het |
Or10n1 |
A |
G |
9: 39,525,759 (GRCm39) |
R299G |
probably benign |
Het |
Or13c7b |
C |
A |
4: 43,820,912 (GRCm39) |
V150L |
probably benign |
Het |
Or51a25 |
C |
T |
7: 102,373,409 (GRCm39) |
R96H |
possibly damaging |
Het |
Osbpl6 |
A |
G |
2: 76,414,857 (GRCm39) |
D416G |
probably damaging |
Het |
Pdilt |
A |
G |
7: 119,099,766 (GRCm39) |
|
probably benign |
Het |
Phf12 |
C |
A |
11: 77,913,252 (GRCm39) |
D401E |
probably benign |
Het |
Pla2r1 |
C |
T |
2: 60,259,065 (GRCm39) |
V1108M |
possibly damaging |
Het |
Prim2 |
A |
G |
1: 33,519,487 (GRCm39) |
|
probably benign |
Het |
Ptpn6 |
T |
C |
6: 124,701,947 (GRCm39) |
H406R |
probably benign |
Het |
Qpctl |
G |
T |
7: 18,877,132 (GRCm39) |
H329N |
probably damaging |
Het |
Ripk3 |
T |
A |
14: 56,022,755 (GRCm39) |
N390Y |
probably damaging |
Het |
Rnase1 |
A |
G |
14: 51,382,907 (GRCm39) |
V149A |
probably benign |
Het |
Rtn3 |
T |
A |
19: 7,434,192 (GRCm39) |
D581V |
probably damaging |
Het |
Slamf1 |
A |
G |
1: 171,602,630 (GRCm39) |
Y119C |
probably damaging |
Het |
Slc25a34 |
A |
G |
4: 141,350,973 (GRCm39) |
M12T |
probably benign |
Het |
Tmem38a |
A |
G |
8: 73,333,944 (GRCm39) |
Y141C |
probably damaging |
Het |
Tnr |
C |
T |
1: 159,714,500 (GRCm39) |
T793I |
possibly damaging |
Het |
Tns3 |
T |
C |
11: 8,443,211 (GRCm39) |
D384G |
probably damaging |
Het |
Vmn2r116 |
T |
A |
17: 23,606,281 (GRCm39) |
Y398N |
probably damaging |
Het |
Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (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 |
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 |
|
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'- CACCACCTTGAGCTATACCG -3'
(R):5'- CTTCTGCGCAAGAACAGTTC -3'
Sequencing Primer
(F):5'- CACCTTGAGCTATACCGGAGTAG -3'
(R):5'- TTCTGCGCAAGAACAGTTCTCAAG -3'
|
Posted On |
2016-12-15 |