Incidental Mutation 'R0320:Arhgap30'
| ID |
38263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap30
|
| Ensembl Gene |
ENSMUSG00000048865 |
| Gene Name |
Rho GTPase activating protein 30 |
| Synonyms |
6030405P05Rik |
| MMRRC Submission |
038530-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0320 (G1)
|
| Quality Score |
199 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171216528-171237808 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 171231372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 230
(W230R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056449]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056449
AA Change: W230R
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000059389
Gene: ENSMUSG00000048865
AA Change: W230R
| 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
|
| Meta Mutation Damage Score |
0.1388 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
100% (71/71) |
| 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 |
|---|
| 3425401B19Rik |
T |
C |
14: 32,384,571 (GRCm39) |
T465A |
probably benign |
Het |
| A430110L20Rik |
T |
G |
1: 181,054,987 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl4fm1 |
A |
T |
4: 144,248,990 (GRCm39) |
H119L |
probably damaging |
Het |
| Abcb10 |
C |
T |
8: 124,689,746 (GRCm39) |
R439Q |
probably benign |
Het |
| Abcb8 |
T |
C |
5: 24,605,788 (GRCm39) |
S199P |
probably damaging |
Het |
| Adam8 |
C |
A |
7: 139,566,355 (GRCm39) |
C556F |
probably damaging |
Het |
| Akap11 |
T |
C |
14: 78,750,819 (GRCm39) |
T523A |
probably benign |
Het |
| Aldh3b1 |
T |
C |
19: 3,968,999 (GRCm39) |
|
probably benign |
Het |
| Atp8b4 |
A |
G |
2: 126,301,614 (GRCm39) |
I82T |
possibly damaging |
Het |
| Bptf |
A |
T |
11: 106,963,645 (GRCm39) |
L1850I |
probably damaging |
Het |
| C4b |
C |
A |
17: 34,952,135 (GRCm39) |
V1237L |
probably benign |
Het |
| Calu |
C |
A |
6: 29,374,550 (GRCm39) |
|
probably benign |
Het |
| Cit |
C |
A |
5: 116,117,504 (GRCm39) |
L1227M |
possibly damaging |
Het |
| Col4a1 |
C |
T |
8: 11,292,782 (GRCm39) |
|
probably null |
Het |
| Cp |
T |
C |
3: 20,029,012 (GRCm39) |
|
probably benign |
Het |
| Cpd |
T |
C |
11: 76,731,273 (GRCm39) |
D311G |
possibly damaging |
Het |
| Ctc1 |
T |
A |
11: 68,924,363 (GRCm39) |
S972T |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,943,500 (GRCm39) |
F3201L |
possibly damaging |
Het |
| Dop1b |
C |
A |
16: 93,607,035 (GRCm39) |
R2113S |
probably benign |
Het |
| Dym |
T |
A |
18: 75,332,333 (GRCm39) |
D520E |
probably damaging |
Het |
| Eif5a |
G |
T |
11: 69,808,305 (GRCm39) |
T64K |
probably benign |
Het |
| Flt3 |
A |
T |
5: 147,306,389 (GRCm39) |
|
probably benign |
Het |
| Ints6 |
A |
T |
14: 62,945,084 (GRCm39) |
Y415* |
probably null |
Het |
| Itga1 |
A |
G |
13: 115,114,130 (GRCm39) |
|
probably benign |
Het |
| Itgae |
A |
G |
11: 73,021,825 (GRCm39) |
H902R |
possibly damaging |
Het |
| Itprid1 |
T |
C |
6: 55,953,432 (GRCm39) |
I916T |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,366,581 (GRCm39) |
I406T |
probably benign |
Het |
| Lmx1a |
C |
T |
1: 167,618,973 (GRCm39) |
Q111* |
probably null |
Het |
| Lrrc25 |
T |
C |
8: 71,070,896 (GRCm39) |
Y226H |
probably benign |
Het |
| Mcam |
T |
A |
9: 44,051,483 (GRCm39) |
N447K |
possibly damaging |
Het |
| Mcm10 |
A |
T |
2: 5,008,897 (GRCm39) |
D357E |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,089,251 (GRCm39) |
T769A |
probably benign |
Het |
| Ofcc1 |
G |
C |
13: 40,360,172 (GRCm39) |
Q286E |
probably benign |
Het |
| Or1e23 |
T |
G |
11: 73,407,750 (GRCm39) |
I92L |
probably damaging |
Het |
| Or56b35 |
A |
T |
7: 104,963,861 (GRCm39) |
I217F |
probably benign |
Het |
| Parp3 |
T |
A |
9: 106,353,011 (GRCm39) |
N55I |
possibly damaging |
Het |
| Parp4 |
T |
C |
14: 56,825,953 (GRCm39) |
|
probably null |
Het |
| Pilrb1 |
G |
A |
5: 137,853,260 (GRCm39) |
T181I |
probably benign |
Het |
| Ppm1n |
A |
G |
7: 19,012,281 (GRCm39) |
V317A |
probably damaging |
Het |
| Prdm2 |
A |
T |
4: 142,905,921 (GRCm39) |
F55L |
probably damaging |
Het |
| Psd2 |
C |
T |
18: 36,112,697 (GRCm39) |
R131C |
probably damaging |
Het |
| Ralgps1 |
A |
T |
2: 33,031,027 (GRCm39) |
C570S |
possibly damaging |
Het |
| Scaf8 |
T |
C |
17: 3,228,530 (GRCm39) |
S443P |
unknown |
Het |
| Setd5 |
A |
G |
6: 113,088,442 (GRCm39) |
K190R |
probably damaging |
Het |
| Spsb4 |
T |
A |
9: 96,878,161 (GRCm39) |
H54L |
probably damaging |
Het |
| St7l |
T |
A |
3: 104,778,229 (GRCm39) |
L122* |
probably null |
Het |
| Stom |
C |
T |
2: 35,211,646 (GRCm39) |
R125H |
probably damaging |
Het |
| Tigd4 |
T |
A |
3: 84,502,481 (GRCm39) |
V466E |
probably benign |
Het |
| Tmc3 |
A |
C |
7: 83,257,027 (GRCm39) |
|
probably benign |
Het |
| Vcl |
C |
T |
14: 21,035,692 (GRCm39) |
|
probably benign |
Het |
| Vmn1r168 |
G |
A |
7: 23,240,767 (GRCm39) |
R208H |
probably benign |
Het |
| Vmn2r75 |
C |
A |
7: 85,814,288 (GRCm39) |
V402L |
probably benign |
Het |
| Vps13b |
A |
T |
15: 35,674,974 (GRCm39) |
H1698L |
probably damaging |
Het |
| Wnt16 |
T |
G |
6: 22,297,992 (GRCm39) |
V286G |
possibly damaging |
Het |
| Xirp1 |
C |
A |
9: 119,845,533 (GRCm39) |
V1117L |
probably benign |
Het |
| Zfp788 |
C |
T |
7: 41,298,971 (GRCm39) |
H536Y |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAGCAGGCACTTTCTACTGTCAC -3'
(R):5'- GAAGATAGAGCGCCATTTCCTGACC -3'
Sequencing Primer
(F):5'- TCACTGTAGCACACAGGTTG -3'
(R):5'- AGCAGCCTGATGATCAGTG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation