Incidental Mutation 'IGL01638:Arhgap30'
| ID |
93145 |
| 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 # |
IGL01638
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
171216528-171237808 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 171225138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 65
(K65E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056449]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056449
AA Change: K65E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059389
Gene: ENSMUSG00000048865
AA Change: K65E
| 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 |
noncoding transcript
Transcript: ENSMUST00000194914
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(4) : Targeted(2) Gene trapped(2)
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,849,409 (GRCm39) |
T436A |
probably benign |
Het |
| Adgrb3 |
T |
A |
1: 25,598,832 (GRCm39) |
|
probably benign |
Het |
| Ajap1 |
A |
G |
4: 153,516,693 (GRCm39) |
V216A |
possibly damaging |
Het |
| Akap7 |
T |
A |
10: 25,143,323 (GRCm39) |
I124F |
probably damaging |
Het |
| Arfgef2 |
G |
A |
2: 166,715,865 (GRCm39) |
V1385M |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,028,460 (GRCm39) |
N2377D |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,298,456 (GRCm39) |
F1260S |
probably damaging |
Het |
| Cad |
T |
A |
5: 31,224,958 (GRCm39) |
C954S |
probably damaging |
Het |
| Fcmr |
A |
T |
1: 130,802,859 (GRCm39) |
E157D |
probably benign |
Het |
| Gm4204 |
A |
T |
1: 135,160,873 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmn |
A |
T |
14: 56,406,476 (GRCm39) |
D16E |
probably benign |
Het |
| Krt86 |
A |
C |
15: 101,373,353 (GRCm39) |
|
probably benign |
Het |
| Macc1 |
T |
C |
12: 119,410,246 (GRCm39) |
L338P |
probably benign |
Het |
| Ms4a6d |
A |
T |
19: 11,564,532 (GRCm39) |
L113Q |
probably damaging |
Het |
| Myh15 |
T |
C |
16: 48,889,843 (GRCm39) |
S145P |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,688,724 (GRCm39) |
K518E |
probably damaging |
Het |
| Or8d6 |
T |
C |
9: 39,853,816 (GRCm39) |
S87P |
probably benign |
Het |
| Parp11 |
T |
A |
6: 127,468,492 (GRCm39) |
F181I |
probably benign |
Het |
| Ppil1 |
C |
A |
17: 29,480,766 (GRCm39) |
K52N |
probably benign |
Het |
| Prl5a1 |
T |
A |
13: 28,329,422 (GRCm39) |
C34S |
possibly damaging |
Het |
| Prss55 |
A |
G |
14: 64,314,636 (GRCm39) |
V178A |
probably benign |
Het |
| S100a7a |
A |
G |
3: 90,562,837 (GRCm39) |
D8G |
probably benign |
Het |
| Sh3glb2 |
A |
G |
2: 30,235,862 (GRCm39) |
V310A |
possibly damaging |
Het |
| Slc22a7 |
T |
C |
17: 46,748,920 (GRCm39) |
|
probably null |
Het |
| Slc27a6 |
A |
G |
18: 58,740,885 (GRCm39) |
D482G |
probably damaging |
Het |
| Smarcc2 |
T |
A |
10: 128,323,943 (GRCm39) |
|
probably benign |
Het |
| Specc1l |
T |
A |
10: 75,082,039 (GRCm39) |
Y478* |
probably null |
Het |
| Spryd3 |
A |
G |
15: 102,038,711 (GRCm39) |
|
probably null |
Het |
| Tcerg1l |
G |
A |
7: 137,881,805 (GRCm39) |
R295C |
probably damaging |
Het |
| Trpv1 |
T |
C |
11: 73,144,155 (GRCm39) |
I637T |
probably damaging |
Het |
| Ttc7 |
A |
C |
17: 87,666,540 (GRCm39) |
|
probably null |
Het |
| Vmn1r6 |
C |
T |
6: 56,980,177 (GRCm39) |
Q280* |
probably null |
Het |
|
| Other mutations in Arhgap30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation