Incidental Mutation 'IGL02604:Arhgef4'
| ID |
300194 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arhgef4
|
| Ensembl Gene |
ENSMUSG00000037509 |
| Gene Name |
Rho guanine nucleotide exchange factor 4 |
| Synonyms |
Asef, 9330140K16Rik, C230030N03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02604
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
34717263-34851819 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 34850804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 594
(L594*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047534]
[ENSMUST00000047664]
[ENSMUST00000159021]
[ENSMUST00000159747]
[ENSMUST00000160855]
[ENSMUST00000162599]
[ENSMUST00000167518]
|
| AlphaFold |
Q7TNR9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047534
|
| SMART Domains |
Protein: ENSMUSP00000042212
Gene: ENSMUSG00000037503
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TCRP1
|
1 |
194 |
1e-108 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000047664
AA Change: L450*
|
| SMART Domains |
Protein: ENSMUSP00000035980
Gene: ENSMUSG00000037509
AA Change: L450*
| 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 |
probably null
Transcript: ENSMUST00000159747
AA Change: L1821*
|
| SMART Domains |
Protein: ENSMUSP00000124213
Gene: ENSMUSG00000037509
AA Change: L1821*
| 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 null
Transcript: ENSMUST00000162599
AA Change: L594*
|
| SMART Domains |
Protein: ENSMUSP00000124906
Gene: ENSMUSG00000037509
AA Change: L594*
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167518
|
| SMART Domains |
Protein: ENSMUSP00000131720
Gene: ENSMUSG00000037503
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TCRP1
|
1 |
62 |
3.3e-26 |
PFAM |
|
Pfam:TCRP1
|
54 |
206 |
1.1e-89 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
T |
C |
17: 35,878,845 (GRCm39) |
V61A |
probably benign |
Het |
| Arfgef1 |
G |
A |
1: 10,251,275 (GRCm39) |
|
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 29,015,066 (GRCm39) |
T375A |
possibly damaging |
Het |
| Calb2 |
A |
C |
8: 110,875,160 (GRCm39) |
Y155D |
probably damaging |
Het |
| Camkmt |
A |
G |
17: 85,404,053 (GRCm39) |
T92A |
possibly damaging |
Het |
| Cfap91 |
A |
G |
16: 38,141,921 (GRCm39) |
|
probably benign |
Het |
| Chsy3 |
A |
G |
18: 59,542,187 (GRCm39) |
S442G |
probably benign |
Het |
| Cyp4f13 |
T |
C |
17: 33,151,395 (GRCm39) |
I173V |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,896,134 (GRCm39) |
T741A |
probably benign |
Het |
| Dennd3 |
T |
C |
15: 73,428,252 (GRCm39) |
I866T |
probably damaging |
Het |
| Dhrs2 |
A |
T |
14: 55,474,778 (GRCm39) |
I138F |
possibly damaging |
Het |
| Dscaml1 |
C |
T |
9: 45,655,626 (GRCm39) |
|
probably benign |
Het |
| Fsbp |
A |
G |
4: 11,584,147 (GRCm39) |
E282G |
probably damaging |
Het |
| Hpgds |
A |
T |
6: 65,100,594 (GRCm39) |
L128Q |
probably damaging |
Het |
| Hspa9 |
A |
G |
18: 35,087,266 (GRCm39) |
V13A |
unknown |
Het |
| Itgb3 |
A |
G |
11: 104,553,269 (GRCm39) |
E709G |
probably damaging |
Het |
| Jarid2 |
T |
C |
13: 45,027,877 (GRCm39) |
S148P |
probably damaging |
Het |
| Kcna6 |
C |
T |
6: 126,716,167 (GRCm39) |
G241R |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,408,941 (GRCm39) |
N1541K |
probably benign |
Het |
| Kel |
C |
A |
6: 41,664,516 (GRCm39) |
E640D |
probably damaging |
Het |
| Lcp1 |
A |
T |
14: 75,461,566 (GRCm39) |
I520F |
probably benign |
Het |
| Lgr4 |
A |
G |
2: 109,841,658 (GRCm39) |
I524V |
probably damaging |
Het |
| Mup20 |
A |
C |
4: 61,970,141 (GRCm39) |
Y139D |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,784,362 (GRCm39) |
|
probably null |
Het |
| Obox7 |
A |
G |
7: 14,399,293 (GRCm39) |
E173G |
probably benign |
Het |
| Or10a49 |
T |
A |
7: 108,467,857 (GRCm39) |
Y168F |
probably benign |
Het |
| Or2a25 |
T |
A |
6: 42,888,992 (GRCm39) |
C178* |
probably null |
Het |
| Or5w22 |
A |
T |
2: 87,362,949 (GRCm39) |
T191S |
probably damaging |
Het |
| Or8b40 |
C |
T |
9: 38,027,148 (GRCm39) |
Q19* |
probably null |
Het |
| Or9i1 |
T |
A |
19: 13,839,170 (GRCm39) |
N4K |
probably benign |
Het |
| Patl2 |
T |
G |
2: 121,955,814 (GRCm39) |
T241P |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Plekhg6 |
T |
C |
6: 125,354,342 (GRCm39) |
|
probably benign |
Het |
| Pon1 |
C |
A |
6: 5,168,375 (GRCm39) |
G344V |
probably damaging |
Het |
| Ppp1r21 |
G |
T |
17: 88,880,171 (GRCm39) |
K529N |
probably benign |
Het |
| Prdm15 |
A |
G |
16: 97,623,142 (GRCm39) |
S203P |
probably benign |
Het |
| Psmc2 |
T |
A |
5: 22,000,098 (GRCm39) |
|
probably null |
Het |
| Ptn |
T |
C |
6: 36,692,653 (GRCm39) |
M166V |
unknown |
Het |
| Ptpn13 |
A |
G |
5: 103,649,769 (GRCm39) |
N391D |
probably benign |
Het |
| Rnf214 |
A |
G |
9: 45,780,841 (GRCm39) |
S383P |
probably damaging |
Het |
| Rufy4 |
T |
A |
1: 74,173,348 (GRCm39) |
L438H |
probably damaging |
Het |
| Scarf2 |
A |
G |
16: 17,621,608 (GRCm39) |
T353A |
probably damaging |
Het |
| Serpinb9e |
A |
C |
13: 33,441,742 (GRCm39) |
I225L |
probably benign |
Het |
| Slc25a40 |
T |
C |
5: 8,503,219 (GRCm39) |
V312A |
probably benign |
Het |
| Tmc3 |
A |
G |
7: 83,271,827 (GRCm39) |
Y993C |
possibly damaging |
Het |
| Trim56 |
A |
C |
5: 137,141,930 (GRCm39) |
C529G |
probably damaging |
Het |
| Trim8 |
T |
C |
19: 46,503,917 (GRCm39) |
S490P |
probably damaging |
Het |
| Trmt6 |
A |
T |
2: 132,652,357 (GRCm39) |
Y147* |
probably null |
Het |
| Vmn2r109 |
T |
A |
17: 20,760,963 (GRCm39) |
H798L |
probably damaging |
Het |
| Vps35 |
A |
G |
8: 86,013,018 (GRCm39) |
L153P |
probably damaging |
Het |
| Wdr82 |
T |
C |
9: 106,060,880 (GRCm39) |
I131T |
probably damaging |
Het |
| Zfp69 |
A |
T |
4: 120,788,660 (GRCm39) |
D218E |
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 |
|
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 |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation