Incidental Mutation 'IGL03343:Arhgap30'
ID |
417348 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Arhgap30
|
Ensembl Gene |
ENSMUSG00000048865 |
Gene Name |
Rho GTPase activating protein 30 |
Synonyms |
6030405P05Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03343
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
171216528-171237808 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 171236662 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 1012
(T1012N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001284]
[ENSMUST00000056449]
[ENSMUST00000159207]
[ENSMUST00000161241]
[ENSMUST00000167546]
[ENSMUST00000160486]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001284
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056449
AA Change: T1012N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059389 Gene: ENSMUSG00000048865 AA Change: T1012N
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
14 |
N/A |
INTRINSIC |
RhoGAP
|
31 |
212 |
1.4e-61 |
SMART |
Blast:RhoGAP
|
225 |
285 |
2e-24 |
BLAST |
low complexity region
|
348 |
366 |
N/A |
INTRINSIC |
low complexity region
|
367 |
378 |
N/A |
INTRINSIC |
low complexity region
|
452 |
463 |
N/A |
INTRINSIC |
low complexity region
|
498 |
510 |
N/A |
INTRINSIC |
low complexity region
|
514 |
534 |
N/A |
INTRINSIC |
low complexity region
|
667 |
690 |
N/A |
INTRINSIC |
low complexity region
|
736 |
752 |
N/A |
INTRINSIC |
low complexity region
|
924 |
940 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131607
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135312
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159207
|
SMART Domains |
Protein: ENSMUSP00000124000 Gene: ENSMUSG00000026641
Domain | Start | End | E-Value | Type |
low complexity region
|
121 |
145 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159466
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160335
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161297
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161241
|
SMART Domains |
Protein: ENSMUSP00000125729 Gene: ENSMUSG00000026641
Domain | Start | End | E-Value | Type |
low complexity region
|
121 |
145 |
N/A |
INTRINSIC |
HLH
|
205 |
260 |
5.01e-15 |
SMART |
low complexity region
|
265 |
281 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167546
|
SMART Domains |
Protein: ENSMUSP00000128913 Gene: ENSMUSG00000026641
Domain | Start | End | E-Value | Type |
low complexity region
|
121 |
145 |
N/A |
INTRINSIC |
HLH
|
205 |
260 |
5.01e-15 |
SMART |
low complexity region
|
265 |
281 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160486
|
SMART Domains |
Protein: ENSMUSP00000125363 Gene: ENSMUSG00000026641
Domain | Start | End | E-Value | Type |
low complexity region
|
121 |
145 |
N/A |
INTRINSIC |
HLH
|
205 |
260 |
5.01e-15 |
SMART |
low complexity region
|
265 |
281 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(4) : Targeted(2) Gene trapped(2)
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts17 |
A |
G |
7: 66,725,064 (GRCm39) |
H795R |
probably damaging |
Het |
Adgrl2 |
A |
T |
3: 148,565,016 (GRCm39) |
I188K |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,431,507 (GRCm39) |
Y5974H |
probably damaging |
Het |
Angpt4 |
A |
G |
2: 151,778,623 (GRCm39) |
T336A |
probably damaging |
Het |
Asl |
A |
T |
5: 130,040,908 (GRCm39) |
Y178N |
probably damaging |
Het |
Brd1 |
C |
A |
15: 88,591,454 (GRCm39) |
L714F |
possibly damaging |
Het |
Ccdc47 |
A |
G |
11: 106,095,788 (GRCm39) |
S303P |
probably damaging |
Het |
Cdcp3 |
T |
A |
7: 130,848,420 (GRCm39) |
I858N |
probably damaging |
Het |
Cdk16 |
A |
G |
X: 20,561,998 (GRCm39) |
K264E |
probably damaging |
Het |
Cenpc1 |
A |
T |
5: 86,164,181 (GRCm39) |
F813L |
probably damaging |
Het |
Cfp |
A |
C |
X: 20,794,248 (GRCm39) |
F291C |
possibly damaging |
Het |
Chordc1 |
T |
G |
9: 18,223,762 (GRCm39) |
F276V |
probably damaging |
Het |
Clic4 |
C |
T |
4: 134,945,889 (GRCm39) |
R176H |
possibly damaging |
Het |
Fcer1a |
T |
G |
1: 173,053,040 (GRCm39) |
N52T |
possibly damaging |
Het |
Fndc7 |
A |
T |
3: 108,774,624 (GRCm39) |
C545S |
probably damaging |
Het |
Frem2 |
T |
C |
3: 53,559,674 (GRCm39) |
D1611G |
probably damaging |
Het |
Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
Gga3 |
A |
T |
11: 115,483,312 (GRCm39) |
N82K |
probably damaging |
Het |
Gm43638 |
G |
A |
5: 87,608,484 (GRCm39) |
P452S |
possibly damaging |
Het |
Gpn1 |
T |
C |
5: 31,662,309 (GRCm39) |
S244P |
probably damaging |
Het |
Hspa12a |
T |
C |
19: 58,787,828 (GRCm39) |
S665G |
probably benign |
Het |
Htt |
A |
G |
5: 34,983,385 (GRCm39) |
I995V |
probably benign |
Het |
Iars1 |
A |
T |
13: 49,878,223 (GRCm39) |
I916L |
probably benign |
Het |
Ice1 |
C |
A |
13: 70,751,048 (GRCm39) |
L1679F |
probably damaging |
Het |
Inpp1 |
A |
T |
1: 52,838,486 (GRCm39) |
D54E |
probably damaging |
Het |
Irf2bpl |
T |
C |
12: 86,929,713 (GRCm39) |
E320G |
possibly damaging |
Het |
Itprid1 |
T |
G |
6: 55,945,569 (GRCm39) |
D763E |
probably damaging |
Het |
Kcnn2 |
T |
C |
18: 45,810,026 (GRCm39) |
V421A |
probably damaging |
Het |
Micu2 |
A |
G |
14: 58,154,768 (GRCm39) |
V419A |
probably benign |
Het |
Nek9 |
C |
T |
12: 85,350,383 (GRCm39) |
C897Y |
probably damaging |
Het |
Ofcc1 |
A |
C |
13: 40,226,140 (GRCm39) |
H797Q |
probably benign |
Het |
Or12d17 |
G |
A |
17: 37,777,300 (GRCm39) |
D68N |
probably damaging |
Het |
Or2y16 |
C |
A |
11: 49,335,070 (GRCm39) |
H131N |
probably damaging |
Het |
Or5m12 |
T |
C |
2: 85,735,285 (GRCm39) |
T38A |
probably benign |
Het |
Or6c69c |
T |
G |
10: 129,911,125 (GRCm39) |
L282R |
probably damaging |
Het |
Pakap |
C |
T |
4: 57,688,502 (GRCm39) |
T115M |
probably damaging |
Het |
Papss1 |
G |
A |
3: 131,288,950 (GRCm39) |
G151S |
probably benign |
Het |
Plxnb1 |
A |
G |
9: 108,943,780 (GRCm39) |
T1956A |
probably damaging |
Het |
Pomt1 |
A |
G |
2: 32,143,724 (GRCm39) |
|
probably benign |
Het |
Ppfibp2 |
T |
A |
7: 107,337,126 (GRCm39) |
Y570* |
probably null |
Het |
Ppp1r9a |
A |
G |
6: 5,046,015 (GRCm39) |
E493G |
probably damaging |
Het |
Ptk2b |
A |
G |
14: 66,406,870 (GRCm39) |
F621L |
probably benign |
Het |
Ptpn13 |
G |
T |
5: 103,702,816 (GRCm39) |
D1261Y |
possibly damaging |
Het |
Ptprd |
C |
T |
4: 75,977,966 (GRCm39) |
G181D |
probably damaging |
Het |
Rabgap1l |
T |
C |
1: 160,270,853 (GRCm39) |
T645A |
probably benign |
Het |
Slc2a7 |
T |
C |
4: 150,252,797 (GRCm39) |
I479T |
probably damaging |
Het |
Smc3 |
A |
G |
19: 53,602,273 (GRCm39) |
N40S |
probably damaging |
Het |
Spata31 |
A |
T |
13: 65,067,587 (GRCm39) |
D83V |
probably benign |
Het |
Sptb |
C |
T |
12: 76,630,330 (GRCm39) |
|
probably benign |
Het |
Ssc4d |
A |
T |
5: 135,990,028 (GRCm39) |
C493* |
probably null |
Het |
Styxl2 |
T |
C |
1: 165,927,017 (GRCm39) |
D865G |
probably benign |
Het |
Ubr2 |
C |
A |
17: 47,262,844 (GRCm39) |
V1256L |
probably benign |
Het |
Ubr3 |
T |
C |
2: 69,803,490 (GRCm39) |
|
probably benign |
Het |
Vmn2r105 |
C |
T |
17: 20,446,631 (GRCm39) |
W456* |
probably null |
Het |
Vmn2r24 |
T |
A |
6: 123,793,070 (GRCm39) |
I799N |
probably damaging |
Het |
Vps13b |
G |
A |
15: 35,917,316 (GRCm39) |
G3720D |
possibly damaging |
Het |
|
Other mutations in Arhgap30 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01638:Arhgap30
|
APN |
1 |
171,225,138 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02016:Arhgap30
|
APN |
1 |
171,235,315 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02552:Arhgap30
|
APN |
1 |
171,235,324 (GRCm39) |
missense |
probably damaging |
1.00 |
consonance
|
UTSW |
1 |
171,231,707 (GRCm39) |
critical splice donor site |
probably null |
|
deliverance
|
UTSW |
1 |
171,225,086 (GRCm39) |
nonsense |
probably null |
|
redemption
|
UTSW |
1 |
171,229,822 (GRCm39) |
missense |
probably damaging |
1.00 |
tercero
|
UTSW |
1 |
171,235,909 (GRCm39) |
missense |
probably benign |
|
FR4304:Arhgap30
|
UTSW |
1 |
171,232,736 (GRCm39) |
small insertion |
probably benign |
|
P0017:Arhgap30
|
UTSW |
1 |
171,236,272 (GRCm39) |
missense |
probably benign |
0.02 |
R0045:Arhgap30
|
UTSW |
1 |
171,235,998 (GRCm39) |
missense |
probably benign |
|
R0045:Arhgap30
|
UTSW |
1 |
171,235,998 (GRCm39) |
missense |
probably benign |
|
R0115:Arhgap30
|
UTSW |
1 |
171,235,516 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0320:Arhgap30
|
UTSW |
1 |
171,231,372 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0399:Arhgap30
|
UTSW |
1 |
171,232,384 (GRCm39) |
missense |
probably damaging |
0.97 |
R0945:Arhgap30
|
UTSW |
1 |
171,230,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R1484:Arhgap30
|
UTSW |
1 |
171,230,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R1595:Arhgap30
|
UTSW |
1 |
171,235,909 (GRCm39) |
missense |
probably benign |
|
R2173:Arhgap30
|
UTSW |
1 |
171,235,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R2281:Arhgap30
|
UTSW |
1 |
171,216,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R2864:Arhgap30
|
UTSW |
1 |
171,235,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R4066:Arhgap30
|
UTSW |
1 |
171,235,891 (GRCm39) |
missense |
probably benign |
|
R4888:Arhgap30
|
UTSW |
1 |
171,236,880 (GRCm39) |
missense |
probably benign |
|
R4937:Arhgap30
|
UTSW |
1 |
171,230,897 (GRCm39) |
missense |
probably benign |
0.03 |
R4944:Arhgap30
|
UTSW |
1 |
171,229,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R5170:Arhgap30
|
UTSW |
1 |
171,235,618 (GRCm39) |
missense |
probably benign |
0.00 |
R5218:Arhgap30
|
UTSW |
1 |
171,236,328 (GRCm39) |
missense |
probably benign |
|
R5385:Arhgap30
|
UTSW |
1 |
171,235,848 (GRCm39) |
missense |
probably benign |
|
R5541:Arhgap30
|
UTSW |
1 |
171,231,707 (GRCm39) |
critical splice donor site |
probably null |
|
R6028:Arhgap30
|
UTSW |
1 |
171,235,888 (GRCm39) |
missense |
probably benign |
|
R6747:Arhgap30
|
UTSW |
1 |
171,235,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R6748:Arhgap30
|
UTSW |
1 |
171,232,378 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6869:Arhgap30
|
UTSW |
1 |
171,236,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R7223:Arhgap30
|
UTSW |
1 |
171,235,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R8113:Arhgap30
|
UTSW |
1 |
171,225,086 (GRCm39) |
nonsense |
probably null |
|
R8543:Arhgap30
|
UTSW |
1 |
171,232,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R8545:Arhgap30
|
UTSW |
1 |
171,234,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R8682:Arhgap30
|
UTSW |
1 |
171,234,970 (GRCm39) |
missense |
probably benign |
0.00 |
R8693:Arhgap30
|
UTSW |
1 |
171,225,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R9026:Arhgap30
|
UTSW |
1 |
171,228,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R9245:Arhgap30
|
UTSW |
1 |
171,235,957 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9515:Arhgap30
|
UTSW |
1 |
171,236,002 (GRCm39) |
missense |
probably benign |
0.38 |
R9524:Arhgap30
|
UTSW |
1 |
171,225,114 (GRCm39) |
missense |
probably damaging |
0.99 |
R9703:Arhgap30
|
UTSW |
1 |
171,235,339 (GRCm39) |
missense |
probably damaging |
1.00 |
X0020:Arhgap30
|
UTSW |
1 |
171,232,653 (GRCm39) |
missense |
possibly damaging |
0.53 |
Z1177:Arhgap30
|
UTSW |
1 |
171,235,476 (GRCm39) |
missense |
probably benign |
0.01 |
Z1189:Arhgap30
|
UTSW |
1 |
171,235,938 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Posted On |
2016-08-02 |