Incidental Mutation 'R5541:Arhgap30'
| ID |
435939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap30
|
| Ensembl Gene |
ENSMUSG00000048865 |
| Gene Name |
Rho GTPase activating protein 30 |
| Synonyms |
6030405P05Rik |
| MMRRC Submission |
043099-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5541 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171216528-171237808 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 171231707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056449]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000056449
|
| SMART Domains |
Protein: ENSMUSP00000059389
Gene: ENSMUSG00000048865
| 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 |
0.9592 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
All alleles(4) : Targeted(2) Gene trapped(2)
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
G |
10: 87,061,808 (GRCm39) |
K86R |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,241,545 (GRCm39) |
V1136A |
probably benign |
Het |
| Arfgap2 |
G |
A |
2: 91,106,114 (GRCm39) |
R530H |
probably benign |
Het |
| Asb7 |
T |
C |
7: 66,329,017 (GRCm39) |
R8G |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,949,276 (GRCm39) |
N2949D |
probably benign |
Het |
| Ccdc86 |
T |
C |
19: 10,925,918 (GRCm39) |
E227G |
probably damaging |
Het |
| Cercam |
A |
G |
2: 29,765,641 (GRCm39) |
D261G |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,778,132 (GRCm39) |
E2714D |
probably benign |
Het |
| Dcp1a |
T |
A |
14: 30,224,796 (GRCm39) |
S126R |
probably damaging |
Het |
| Defa17 |
T |
A |
8: 22,146,565 (GRCm39) |
C64S |
probably damaging |
Het |
| Depdc5 |
A |
T |
5: 33,021,973 (GRCm39) |
|
probably benign |
Het |
| Dhx29 |
A |
G |
13: 113,076,908 (GRCm39) |
N259S |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,169,971 (GRCm39) |
L323Q |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 66,036,162 (GRCm39) |
Y416C |
probably damaging |
Het |
| Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
| Fbxw15 |
T |
G |
9: 109,394,498 (GRCm39) |
I106L |
probably benign |
Het |
| Flacc1 |
A |
G |
1: 58,697,588 (GRCm39) |
M384T |
probably benign |
Het |
| Gm10610 |
A |
G |
7: 83,198,614 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr22 |
A |
G |
12: 31,759,348 (GRCm39) |
F258S |
probably damaging |
Het |
| Grip1 |
A |
T |
10: 119,908,623 (GRCm39) |
I618F |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,247,862 (GRCm39) |
T1233I |
probably damaging |
Het |
| Hspg2 |
C |
A |
4: 137,270,136 (GRCm39) |
Q2365K |
probably benign |
Het |
| Intu |
A |
G |
3: 40,647,017 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
T |
C |
13: 47,232,672 (GRCm39) |
M714T |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,852,316 (GRCm39) |
M924T |
probably damaging |
Het |
| Klb |
A |
T |
5: 65,536,577 (GRCm39) |
M636L |
probably benign |
Het |
| Klrb1a |
G |
A |
6: 128,586,699 (GRCm39) |
H219Y |
probably benign |
Het |
| Macroh2a2 |
T |
C |
10: 61,583,496 (GRCm39) |
I215V |
probably benign |
Het |
| Marchf10 |
C |
T |
11: 105,280,957 (GRCm39) |
D443N |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,043,459 (GRCm39) |
E578G |
probably damaging |
Het |
| Or8b39 |
T |
C |
9: 37,996,419 (GRCm39) |
C96R |
probably damaging |
Het |
| Or9i1 |
T |
C |
19: 13,839,328 (GRCm39) |
I57T |
probably benign |
Het |
| Pard3b |
A |
G |
1: 61,678,502 (GRCm39) |
Y34C |
probably damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,684,856 (GRCm39) |
V441E |
probably damaging |
Het |
| Pde6g |
A |
T |
11: 120,338,998 (GRCm39) |
I64N |
probably damaging |
Het |
| Pdia4 |
C |
T |
6: 47,773,571 (GRCm39) |
V593M |
probably damaging |
Het |
| Pnn |
T |
G |
12: 59,118,716 (GRCm39) |
V433G |
possibly damaging |
Het |
| Rbak |
G |
A |
5: 143,159,745 (GRCm39) |
S436F |
probably damaging |
Het |
| Rpl11 |
A |
G |
4: 135,780,043 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,785,610 (GRCm39) |
Q1701K |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,154,977 (GRCm39) |
T661S |
probably benign |
Het |
| Smg1 |
T |
A |
7: 117,756,386 (GRCm39) |
|
probably benign |
Het |
| St8sia2 |
T |
C |
7: 73,616,648 (GRCm39) |
D109G |
probably benign |
Het |
| Stk-ps1 |
T |
A |
17: 36,709,105 (GRCm39) |
|
noncoding transcript |
Het |
| Stxbp3-ps |
C |
T |
19: 9,535,334 (GRCm39) |
|
noncoding transcript |
Het |
| Taf1d |
T |
A |
9: 15,220,146 (GRCm39) |
F132I |
probably damaging |
Het |
| Tfap2b |
A |
G |
1: 19,284,250 (GRCm39) |
S35G |
possibly damaging |
Het |
| Tnk2 |
C |
T |
16: 32,488,341 (GRCm39) |
T198I |
probably benign |
Het |
| Trappc2b |
T |
C |
11: 51,576,796 (GRCm39) |
H34R |
probably benign |
Het |
| Ube2q2 |
T |
A |
9: 55,099,163 (GRCm39) |
V168E |
possibly damaging |
Het |
| Ucma |
A |
G |
2: 4,986,141 (GRCm39) |
R105G |
probably benign |
Het |
| Vmn2r97 |
C |
T |
17: 19,148,617 (GRCm39) |
Q171* |
probably null |
Het |
| Wapl |
T |
C |
14: 34,452,619 (GRCm39) |
|
probably null |
Het |
| Zfand4 |
T |
A |
6: 116,291,256 (GRCm39) |
C397S |
possibly damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,675,583 (GRCm39) |
N2211S |
probably damaging |
Het |
| Zfp143 |
G |
T |
7: 109,669,687 (GRCm39) |
G39C |
probably benign |
Het |
| Zfp568 |
T |
A |
7: 29,722,301 (GRCm39) |
D414E |
possibly damaging |
Het |
| Zfp574 |
C |
T |
7: 24,781,375 (GRCm39) |
A799V |
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 |
|
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 |
|
|
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'- CAAGTAAGGTCTCCTTCCTGG -3'
(R):5'- GCTGTTGTCACTGCACATACAC -3'
Sequencing Primer
(F):5'- AGTAAGGTCTCCTTCCTGGGACTC -3'
(R):5'- TGTTGTCACTGCACATACACATACAC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation