Incidental Mutation 'R0945:Arhgap30'
ID |
82040 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap30
|
Ensembl Gene |
ENSMUSG00000048865 |
Gene Name |
Rho GTPase activating protein 30 |
Synonyms |
6030405P05Rik |
MMRRC Submission |
039084-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0945 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
171216528-171237808 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 171230854 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 204
(V204L)
|
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: V204L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059389 Gene: ENSMUSG00000048865 AA Change: V204L
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 |
0.5298 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.1%
- 20x: 96.8%
|
Validation Efficiency |
98% (44/45) |
Allele List at MGI |
All alleles(4) : Targeted(2) Gene trapped(2)
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy5 |
A |
G |
16: 35,110,481 (GRCm39) |
M883V |
probably benign |
Het |
Allc |
A |
G |
12: 28,609,962 (GRCm39) |
S212P |
probably benign |
Het |
Anxa10 |
A |
G |
8: 62,513,279 (GRCm39) |
|
probably benign |
Het |
Apoa2 |
A |
G |
1: 171,053,268 (GRCm39) |
|
probably null |
Het |
Arfgef2 |
T |
C |
2: 166,668,889 (GRCm39) |
|
probably benign |
Het |
Cd109 |
T |
A |
9: 78,596,223 (GRCm39) |
V852E |
possibly damaging |
Het |
Ceacam5 |
T |
A |
7: 17,481,269 (GRCm39) |
Y339N |
probably damaging |
Het |
Chaf1a |
A |
G |
17: 56,374,441 (GRCm39) |
D876G |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,659,630 (GRCm39) |
K197E |
possibly damaging |
Het |
Cnr2 |
A |
T |
4: 135,644,632 (GRCm39) |
M237L |
probably benign |
Het |
Dnm2 |
C |
A |
9: 21,416,956 (GRCm39) |
Q830K |
probably damaging |
Het |
Dst |
T |
C |
1: 34,310,500 (GRCm39) |
L1615P |
probably damaging |
Het |
Eid1 |
A |
G |
2: 125,515,497 (GRCm39) |
D129G |
probably damaging |
Het |
Exoc5 |
A |
G |
14: 49,276,799 (GRCm39) |
|
probably benign |
Het |
Greb1 |
T |
C |
12: 16,723,803 (GRCm39) |
Y1854C |
probably benign |
Het |
Il15ra |
T |
A |
2: 11,723,138 (GRCm39) |
V54E |
probably damaging |
Het |
Il4i1 |
G |
A |
7: 44,489,128 (GRCm39) |
V306M |
probably damaging |
Het |
Lrsam1 |
T |
C |
2: 32,837,921 (GRCm39) |
D211G |
probably benign |
Het |
Miga1 |
A |
T |
3: 152,023,300 (GRCm39) |
F250L |
possibly damaging |
Het |
Myrfl |
C |
T |
10: 116,639,299 (GRCm39) |
|
probably benign |
Het |
Nell1 |
A |
G |
7: 49,869,333 (GRCm39) |
I203V |
probably benign |
Het |
Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
Or14j9 |
G |
A |
17: 37,874,278 (GRCm39) |
T308I |
probably benign |
Het |
Or4a15 |
T |
C |
2: 89,193,599 (GRCm39) |
Y58C |
probably damaging |
Het |
Or52u1 |
T |
A |
7: 104,237,879 (GRCm39) |
N289K |
probably damaging |
Het |
Pdxdc1 |
A |
G |
16: 13,675,296 (GRCm39) |
L345P |
probably damaging |
Het |
Pex3 |
C |
A |
10: 13,418,420 (GRCm39) |
A79S |
probably benign |
Het |
Pla2r1 |
A |
C |
2: 60,288,754 (GRCm39) |
L626R |
possibly damaging |
Het |
Plcb3 |
A |
G |
19: 6,932,246 (GRCm39) |
S1107P |
probably damaging |
Het |
Ppcdc |
C |
T |
9: 57,327,441 (GRCm39) |
|
probably null |
Het |
Rbak |
A |
T |
5: 143,159,334 (GRCm39) |
F573Y |
probably damaging |
Het |
Rfc1 |
A |
G |
5: 65,436,052 (GRCm39) |
|
probably null |
Het |
Rpl13 |
C |
T |
8: 123,831,913 (GRCm39) |
A203V |
possibly damaging |
Het |
Scn8a |
A |
G |
15: 100,913,668 (GRCm39) |
H1020R |
possibly damaging |
Het |
Slf1 |
A |
G |
13: 77,251,590 (GRCm39) |
|
probably benign |
Het |
Synj1 |
A |
G |
16: 90,757,333 (GRCm39) |
L905S |
possibly damaging |
Het |
Tmem59 |
T |
A |
4: 107,044,922 (GRCm39) |
|
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Uri1 |
A |
T |
7: 37,669,103 (GRCm39) |
D127E |
probably damaging |
Het |
Usp31 |
T |
C |
7: 121,269,476 (GRCm39) |
E489G |
probably damaging |
Het |
Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
Zfp941 |
C |
T |
7: 140,391,577 (GRCm39) |
R594H |
probably damaging |
Het |
Zfy1 |
T |
C |
Y: 725,983 (GRCm39) |
D594G |
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 |
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 |
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'- CATAGTAGGGTATTTCAGAAGCAGGGC -3'
(R):5'- TCTATGAGAGACGCTTCCTACCCAC -3'
Sequencing Primer
(F):5'- GACCTGTCTGTCTtgtgtgtg -3'
(R):5'- GCTTCCTACCCACAGTATGAG -3'
|
Posted On |
2013-11-08 |