Incidental Mutation 'IGL03240:Arhgef4'
| ID |
414256 |
| 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 # |
IGL03240
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
34717263-34851819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34845107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1437
(D1437G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047664]
[ENSMUST00000159021]
[ENSMUST00000159747]
[ENSMUST00000160855]
[ENSMUST00000162599]
[ENSMUST00000211073]
|
| AlphaFold |
Q7TNR9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047664
AA Change: D66G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000035980
Gene: ENSMUSG00000037509
AA Change: D66G
| 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
AA Change: D149G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000124467
Gene: ENSMUSG00000037509
AA Change: D149G
| 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
AA Change: D1437G
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000124213
Gene: ENSMUSG00000037509
AA Change: D1437G
| 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
AA Change: D66G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000124207
Gene: ENSMUSG00000037509
AA Change: D66G
| 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
AA Change: D270G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124906
Gene: ENSMUSG00000037509
AA Change: D270G
| 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: ENSMUST00000211073
|
| 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 |
|---|
| 1700003H04Rik |
T |
C |
3: 124,350,365 (GRCm39) |
|
probably benign |
Het |
| AA467197 |
A |
G |
2: 122,481,182 (GRCm39) |
T57A |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,733,345 (GRCm39) |
D1852E |
probably damaging |
Het |
| Arg2 |
T |
A |
12: 79,178,605 (GRCm39) |
|
probably null |
Het |
| AW551984 |
C |
A |
9: 39,500,418 (GRCm39) |
R780L |
probably benign |
Het |
| Baz1a |
T |
A |
12: 54,974,352 (GRCm39) |
K503* |
probably null |
Het |
| Bltp3a |
C |
A |
17: 28,112,227 (GRCm39) |
N1167K |
probably benign |
Het |
| Cdk2ap1 |
A |
T |
5: 124,484,207 (GRCm39) |
H96Q |
probably damaging |
Het |
| Col11a1 |
T |
A |
3: 114,010,859 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,585,665 (GRCm39) |
|
probably null |
Het |
| Col22a1 |
G |
A |
15: 71,679,777 (GRCm39) |
P877S |
unknown |
Het |
| Col7a1 |
A |
T |
9: 108,797,441 (GRCm39) |
N1681Y |
probably null |
Het |
| Dennd1b |
T |
G |
1: 139,067,130 (GRCm39) |
S398A |
possibly damaging |
Het |
| Fgd2 |
C |
T |
17: 29,580,135 (GRCm39) |
|
probably benign |
Het |
| Hadh |
T |
C |
3: 131,042,192 (GRCm39) |
S98G |
probably benign |
Het |
| Has2 |
C |
T |
15: 56,531,656 (GRCm39) |
R353H |
probably damaging |
Het |
| Heg1 |
T |
C |
16: 33,547,783 (GRCm39) |
S857P |
probably benign |
Het |
| Hemgn |
T |
A |
4: 46,400,732 (GRCm39) |
R43* |
probably null |
Het |
| Htr4 |
A |
T |
18: 62,570,692 (GRCm39) |
H249L |
possibly damaging |
Het |
| Hycc2 |
A |
G |
1: 58,569,076 (GRCm39) |
L501P |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,022,281 (GRCm39) |
S495P |
probably benign |
Het |
| Kars1 |
T |
C |
8: 112,732,271 (GRCm39) |
D99G |
probably benign |
Het |
| Krt40 |
T |
A |
11: 99,428,394 (GRCm39) |
S333C |
probably damaging |
Het |
| Lamc2 |
T |
C |
1: 152,999,871 (GRCm39) |
I1163V |
probably damaging |
Het |
| Lrrn2 |
A |
T |
1: 132,866,065 (GRCm39) |
I377F |
possibly damaging |
Het |
| Mcm5 |
T |
A |
8: 75,842,530 (GRCm39) |
I268N |
probably damaging |
Het |
| Mmp21 |
G |
T |
7: 133,276,300 (GRCm39) |
H514Q |
probably damaging |
Het |
| Mtcl1 |
G |
A |
17: 66,645,014 (GRCm39) |
P1478S |
probably damaging |
Het |
| Mybbp1a |
A |
G |
11: 72,336,492 (GRCm39) |
T495A |
possibly damaging |
Het |
| Myo10 |
T |
A |
15: 25,701,688 (GRCm39) |
V21E |
probably damaging |
Het |
| Nap1l4 |
A |
G |
7: 143,091,982 (GRCm39) |
S49P |
probably benign |
Het |
| Ncoa2 |
G |
A |
1: 13,247,316 (GRCm39) |
S369F |
probably damaging |
Het |
| Niban2 |
A |
C |
2: 32,812,109 (GRCm39) |
Y397S |
probably benign |
Het |
| Or5g9 |
A |
T |
2: 85,552,675 (GRCm39) |
K309* |
probably null |
Het |
| Pon2 |
A |
G |
6: 5,265,316 (GRCm39) |
|
probably benign |
Het |
| Ppdpf |
T |
C |
2: 180,829,673 (GRCm39) |
S43P |
probably benign |
Het |
| Psmd6 |
A |
G |
14: 14,112,393 (GRCm38) |
|
probably benign |
Het |
| Ptprk |
G |
T |
10: 28,368,957 (GRCm39) |
R643L |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,524,368 (GRCm39) |
Y455F |
probably benign |
Het |
| Sec23b |
G |
A |
2: 144,408,679 (GRCm39) |
|
probably benign |
Het |
| Sh3pxd2a |
A |
G |
19: 47,256,465 (GRCm39) |
L751P |
probably damaging |
Het |
| Snx6 |
T |
A |
12: 54,830,228 (GRCm39) |
H77L |
probably damaging |
Het |
| Svep1 |
C |
A |
4: 58,048,188 (GRCm39) |
C3472F |
possibly damaging |
Het |
| Trpd52l3 |
A |
T |
19: 29,981,396 (GRCm39) |
E50D |
probably damaging |
Het |
| Ttc33 |
A |
G |
15: 5,246,809 (GRCm39) |
D205G |
probably damaging |
Het |
| Tubgcp3 |
A |
T |
8: 12,699,797 (GRCm39) |
V352E |
probably benign |
Het |
| Tulp2 |
T |
G |
7: 45,171,734 (GRCm39) |
F436C |
probably damaging |
Het |
| Vmn1r123 |
T |
A |
7: 20,896,282 (GRCm39) |
M58K |
possibly damaging |
Het |
| Vmn2r113 |
T |
C |
17: 23,174,931 (GRCm39) |
V514A |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,862,329 (GRCm39) |
V2982A |
probably benign |
Het |
| Ywhaq |
T |
C |
12: 21,445,001 (GRCm39) |
T215A |
possibly damaging |
Het |
| Zfp677 |
A |
T |
17: 21,617,135 (GRCm39) |
H64L |
probably damaging |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation