Incidental Mutation 'IGL02552:Arhgap30'
ID |
298166 |
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 # |
IGL02552
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
171216528-171237808 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 171235324 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 566
(L566Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001284]
[ENSMUST00000056449]
[ENSMUST00000159207]
[ENSMUST00000161241]
[ENSMUST00000160486]
[ENSMUST00000167546]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001284
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056449
AA Change: L566Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059389 Gene: ENSMUSG00000048865 AA Change: L566Q
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: 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 |
|
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 |
|
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 |
1700006A11Rik |
A |
G |
3: 124,208,145 (GRCm39) |
L178S |
probably damaging |
Het |
Abca12 |
A |
G |
1: 71,333,906 (GRCm39) |
Y1199H |
probably damaging |
Het |
Abcc9 |
T |
C |
6: 142,551,645 (GRCm39) |
D1221G |
possibly damaging |
Het |
Apc |
T |
A |
18: 34,446,035 (GRCm39) |
M977K |
possibly damaging |
Het |
Arhgap40 |
T |
A |
2: 158,388,721 (GRCm39) |
W552R |
probably benign |
Het |
Astn1 |
C |
T |
1: 158,332,965 (GRCm39) |
S349F |
possibly damaging |
Het |
Bard1 |
T |
C |
1: 71,104,815 (GRCm39) |
|
probably benign |
Het |
Batf2 |
T |
A |
19: 6,221,537 (GRCm39) |
Y116N |
probably benign |
Het |
Bltp3b |
T |
A |
10: 89,642,605 (GRCm39) |
L10* |
probably null |
Het |
Cbx6 |
T |
C |
15: 79,713,094 (GRCm39) |
H111R |
probably damaging |
Het |
Cd44 |
T |
A |
2: 102,679,076 (GRCm39) |
N242I |
probably benign |
Het |
Cdnf |
C |
T |
2: 3,525,012 (GRCm39) |
Q184* |
probably null |
Het |
Chd2 |
C |
A |
7: 73,097,068 (GRCm39) |
|
probably benign |
Het |
Cmtm6 |
G |
A |
9: 114,566,374 (GRCm39) |
V88M |
probably damaging |
Het |
Col24a1 |
C |
A |
3: 145,179,962 (GRCm39) |
S1151R |
possibly damaging |
Het |
Csta2 |
A |
G |
16: 36,073,459 (GRCm39) |
E15G |
probably damaging |
Het |
Degs1l |
T |
A |
1: 180,882,463 (GRCm39) |
V75E |
possibly damaging |
Het |
Dnajc2 |
T |
C |
5: 21,988,061 (GRCm39) |
D6G |
probably damaging |
Het |
Eif3a |
G |
A |
19: 60,751,664 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
C |
A |
2: 125,254,633 (GRCm39) |
C210F |
possibly damaging |
Het |
Fmn2 |
T |
A |
1: 174,523,286 (GRCm39) |
D1380E |
probably damaging |
Het |
Fry |
A |
T |
5: 150,304,375 (GRCm39) |
K588N |
probably damaging |
Het |
Gm18856 |
G |
A |
13: 14,139,805 (GRCm39) |
|
probably benign |
Het |
Gpr37 |
G |
T |
6: 25,688,686 (GRCm39) |
T137K |
probably benign |
Het |
Gzmc |
T |
C |
14: 56,472,039 (GRCm39) |
M1V |
probably null |
Het |
Htr5a |
T |
C |
5: 28,047,958 (GRCm39) |
V171A |
probably benign |
Het |
Ints6l |
T |
C |
X: 55,500,557 (GRCm39) |
|
probably benign |
Het |
Kcnma1 |
C |
T |
14: 23,436,327 (GRCm39) |
|
probably null |
Het |
Krt35 |
C |
T |
11: 99,983,899 (GRCm39) |
G367D |
probably benign |
Het |
Nlrp1b |
C |
T |
11: 71,063,057 (GRCm39) |
V668I |
possibly damaging |
Het |
Nlrp1b |
C |
T |
11: 71,072,878 (GRCm39) |
V322I |
possibly damaging |
Het |
Ntf3 |
T |
C |
6: 126,078,823 (GRCm39) |
N228D |
probably damaging |
Het |
Nup133 |
G |
A |
8: 124,655,994 (GRCm39) |
R496W |
possibly damaging |
Het |
Or4c10 |
T |
C |
2: 89,760,903 (GRCm39) |
V250A |
probably benign |
Het |
Or51i1 |
C |
A |
7: 103,671,463 (GRCm39) |
G21W |
probably damaging |
Het |
Pah |
C |
T |
10: 87,414,707 (GRCm39) |
|
probably benign |
Het |
Pan2 |
G |
T |
10: 128,154,896 (GRCm39) |
W1112L |
probably damaging |
Het |
Pkn3 |
G |
A |
2: 29,970,879 (GRCm39) |
R209Q |
probably damaging |
Het |
Plaa |
C |
T |
4: 94,470,717 (GRCm39) |
|
probably null |
Het |
Qprt |
C |
T |
7: 126,708,027 (GRCm39) |
A135T |
probably damaging |
Het |
Rbbp6 |
T |
G |
7: 122,582,204 (GRCm39) |
S108A |
probably damaging |
Het |
Smg1 |
T |
A |
7: 117,795,117 (GRCm39) |
|
probably benign |
Het |
Spink5 |
T |
A |
18: 44,125,235 (GRCm39) |
C368S |
possibly damaging |
Het |
Sptan1 |
T |
A |
2: 29,908,486 (GRCm39) |
I1734N |
probably damaging |
Het |
Stk38l |
C |
T |
6: 146,669,031 (GRCm39) |
L170F |
probably damaging |
Het |
Tesmin |
C |
T |
19: 3,452,483 (GRCm39) |
|
probably benign |
Het |
Tjp1 |
A |
T |
7: 64,949,530 (GRCm39) |
C1697* |
probably null |
Het |
Tmco4 |
T |
C |
4: 138,785,690 (GRCm39) |
S587P |
probably benign |
Het |
Tmem208 |
G |
A |
8: 106,055,329 (GRCm39) |
|
probably null |
Het |
Trim30d |
T |
C |
7: 104,121,623 (GRCm39) |
Q224R |
probably damaging |
Het |
Trpm7 |
T |
A |
2: 126,682,699 (GRCm39) |
D390V |
probably damaging |
Het |
Uba7 |
A |
G |
9: 107,858,589 (GRCm39) |
I807V |
probably benign |
Het |
Utp18 |
C |
A |
11: 93,759,160 (GRCm39) |
C438F |
probably damaging |
Het |
Vps13d |
T |
C |
4: 144,899,707 (GRCm39) |
K191E |
possibly damaging |
Het |
Wdr27 |
A |
G |
17: 15,146,453 (GRCm39) |
S181P |
probably damaging |
Het |
Zfp462 |
T |
C |
4: 55,010,613 (GRCm39) |
Y860H |
probably 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 |
IGL03343:Arhgap30
|
APN |
1 |
171,236,662 (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 |
2015-04-16 |