Incidental Mutation 'R6747:Arhgap30'
| ID |
530562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap30
|
| Ensembl Gene |
ENSMUSG00000048865 |
| Gene Name |
Rho GTPase activating protein 30 |
| Synonyms |
6030405P05Rik |
| MMRRC Submission |
044864-MU
|
| Accession Numbers |
Ncbi RefSeq: NM_001005508.2; MGI: 2684948
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6747 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171388954-171410298 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 171407729 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 557
(V557A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001284]
[ENSMUST00000056449]
[ENSMUST00000159207]
[ENSMUST00000160486]
[ENSMUST00000161241]
[ENSMUST00000167546]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001284
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056449
AA Change: V557A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059389
Gene: ENSMUSG00000048865
AA Change: V557A
| 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 |
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: 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 |
noncoding transcript
Transcript: ENSMUST00000161297
|
| 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 |
|
| Meta Mutation Damage Score |
0.0795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (68/70) |
| Allele List at MGI |
All alleles(4) : Targeted(2) Gene trapped(2)
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
C |
T |
3: 122,126,313 (GRCm38) |
|
probably null |
Het |
| Acyp1 |
C |
T |
12: 85,278,905 (GRCm38) |
V107I |
probably null |
Het |
| Aftph |
T |
C |
11: 20,726,144 (GRCm38) |
|
probably null |
Het |
| Agtpbp1 |
A |
T |
13: 59,544,353 (GRCm38) |
|
probably null |
Het |
| Arhgap15 |
C |
A |
2: 44,116,677 (GRCm38) |
P269T |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,081,493 (GRCm38) |
M410K |
probably benign |
Het |
| B4galnt2 |
T |
C |
11: 95,868,634 (GRCm38) |
|
probably null |
Het |
| Birc3 |
A |
G |
9: 7,860,261 (GRCm38) |
|
probably null |
Het |
| Cav2 |
A |
T |
6: 17,286,951 (GRCm38) |
N69Y |
probably damaging |
Het |
| Cc2d2b |
G |
A |
19: 40,795,667 (GRCm38) |
C826Y |
probably benign |
Het |
| Cenpf |
T |
A |
1: 189,652,854 (GRCm38) |
T2410S |
probably benign |
Het |
| Chchd1 |
A |
G |
14: 20,703,380 (GRCm38) |
D24G |
probably benign |
Het |
| Cmip |
G |
A |
8: 117,436,879 (GRCm38) |
G450S |
probably benign |
Het |
| Col11a1 |
C |
T |
3: 114,212,450 (GRCm38) |
Q534* |
probably null |
Het |
| Col3a1 |
G |
T |
1: 45,338,622 (GRCm38) |
|
probably benign |
Het |
| Cox4i1 |
T |
C |
8: 120,673,230 (GRCm38) |
I31T |
possibly damaging |
Het |
| Cstf3 |
G |
T |
2: 104,646,767 (GRCm38) |
V168F |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,725,340 (GRCm38) |
I352T |
probably benign |
Het |
| Ddx52 |
T |
C |
11: 83,955,302 (GRCm38) |
V456A |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,416,088 (GRCm38) |
H1337Q |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,636,062 (GRCm38) |
T369A |
probably benign |
Het |
| Dppa1 |
T |
A |
11: 46,625,595 (GRCm38) |
I8F |
unknown |
Het |
| Ebf1 |
G |
T |
11: 44,883,814 (GRCm38) |
V213F |
probably damaging |
Het |
| Foxb2 |
C |
A |
19: 16,872,833 (GRCm38) |
E270* |
probably null |
Het |
| Gclc |
A |
T |
9: 77,788,245 (GRCm38) |
R450W |
probably damaging |
Het |
| Gm13128 |
T |
C |
4: 144,332,978 (GRCm38) |
W420R |
probably benign |
Het |
| Grin2d |
T |
C |
7: 45,862,268 (GRCm38) |
E251G |
probably damaging |
Het |
| Hal |
A |
T |
10: 93,500,677 (GRCm38) |
N423Y |
probably damaging |
Het |
| Krtap4-8 |
T |
A |
11: 99,780,091 (GRCm38) |
I185F |
unknown |
Het |
| Lrp3 |
T |
A |
7: 35,211,437 (GRCm38) |
Q61L |
probably benign |
Het |
| Met |
A |
C |
6: 17,571,467 (GRCm38) |
Q1296H |
probably damaging |
Het |
| Mphosph9 |
T |
A |
5: 124,297,699 (GRCm38) |
N557I |
possibly damaging |
Het |
| Mrpl46 |
C |
A |
7: 78,782,981 (GRCm38) |
W16C |
probably benign |
Het |
| Myh13 |
G |
A |
11: 67,350,419 (GRCm38) |
R874Q |
probably damaging |
Het |
| Nelfb |
G |
A |
2: 25,203,381 (GRCm38) |
T453I |
probably benign |
Het |
| Nos2 |
A |
G |
11: 78,952,954 (GRCm38) |
D909G |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,882,344 (GRCm38) |
E431G |
possibly damaging |
Het |
| Nsmce2 |
A |
G |
15: 59,591,724 (GRCm38) |
D149G |
probably benign |
Het |
| Olfr203 |
T |
C |
16: 59,303,641 (GRCm38) |
F164L |
probably benign |
Het |
| Olfr690 |
C |
T |
7: 105,330,027 (GRCm38) |
R55H |
probably benign |
Het |
| Pcbp4 |
C |
A |
9: 106,460,648 (GRCm38) |
|
probably null |
Het |
| Peg10 |
A |
G |
6: 4,757,137 (GRCm38) |
|
probably benign |
Het |
| Pms2 |
C |
T |
5: 143,925,419 (GRCm38) |
P154L |
probably benign |
Het |
| Pou6f2 |
A |
C |
13: 18,129,187 (GRCm38) |
L112R |
probably benign |
Het |
| Prdm6 |
A |
T |
18: 53,465,046 (GRCm38) |
|
probably benign |
Het |
| Prob1 |
G |
A |
18: 35,655,154 (GRCm38) |
R12W |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 52,078,263 (GRCm38) |
|
probably null |
Het |
| Rpl9-ps6 |
A |
G |
19: 32,466,143 (GRCm38) |
S137P |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCAGCG |
7: 97,579,906 (GRCm38) |
|
probably benign |
Homo |
| Sec23ip |
A |
G |
7: 128,752,849 (GRCm38) |
|
silent |
Het |
| Slc38a9 |
T |
C |
13: 112,690,180 (GRCm38) |
C151R |
probably benign |
Het |
| Slc39a8 |
T |
C |
3: 135,849,180 (GRCm38) |
|
probably null |
Het |
| Slc6a18 |
C |
A |
13: 73,677,991 (GRCm38) |
|
probably benign |
Het |
| Snw1 |
T |
C |
12: 87,464,710 (GRCm38) |
D57G |
probably damaging |
Het |
| Sox6 |
C |
G |
7: 115,541,731 (GRCm38) |
R505P |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,410,395 (GRCm38) |
|
probably null |
Het |
| Spire2 |
C |
T |
8: 123,356,846 (GRCm38) |
R190C |
probably damaging |
Het |
| Stard9 |
A |
C |
2: 120,698,383 (GRCm38) |
H1707P |
possibly damaging |
Het |
| Tenm3 |
G |
T |
8: 48,343,243 (GRCm38) |
T237K |
probably damaging |
Het |
| Themis2 |
T |
A |
4: 132,796,262 (GRCm38) |
E31V |
possibly damaging |
Het |
| Trim56 |
T |
G |
5: 137,114,521 (GRCm38) |
Q47P |
probably damaging |
Het |
| Trim58 |
T |
C |
11: 58,651,264 (GRCm38) |
I350T |
probably benign |
Het |
| Ttll7 |
C |
T |
3: 146,944,056 (GRCm38) |
P639S |
probably benign |
Het |
| Ubxn6 |
A |
G |
17: 56,070,650 (GRCm38) |
|
probably null |
Het |
| Vmn2r114 |
A |
T |
17: 23,309,876 (GRCm38) |
F417L |
probably benign |
Het |
| Vmn2r29 |
T |
A |
7: 7,231,422 (GRCm38) |
M822L |
probably benign |
Het |
| Vps9d1 |
T |
C |
8: 123,254,007 (GRCm38) |
D27G |
probably damaging |
Het |
| Wdr3 |
C |
T |
3: 100,138,724 (GRCm38) |
R931Q |
probably damaging |
Het |
| Whamm |
G |
A |
7: 81,578,302 (GRCm38) |
|
probably null |
Het |
| Zcchc24 |
T |
C |
14: 25,757,033 (GRCm38) |
H142R |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,806,894 (GRCm38) |
K2050R |
probably damaging |
Het |
|
| Other mutations in Arhgap30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01638:Arhgap30
|
APN |
1 |
171,397,570 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02016:Arhgap30
|
APN |
1 |
171,407,747 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02552:Arhgap30
|
APN |
1 |
171,407,756 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03343:Arhgap30
|
APN |
1 |
171,409,094 (GRCm38) |
missense |
probably damaging |
1.00 |
|
consonance
|
UTSW |
1 |
171,404,139 (GRCm38) |
critical splice donor site |
probably null |
|
|
deliverance
|
UTSW |
1 |
171,397,518 (GRCm38) |
nonsense |
probably null |
|
|
redemption
|
UTSW |
1 |
171,402,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
tercero
|
UTSW |
1 |
171,408,341 (GRCm38) |
missense |
probably benign |
|
|
FR4304:Arhgap30
|
UTSW |
1 |
171,405,168 (GRCm38) |
small insertion |
probably benign |
|
|
P0017:Arhgap30
|
UTSW |
1 |
171,408,704 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0045:Arhgap30
|
UTSW |
1 |
171,408,430 (GRCm38) |
missense |
probably benign |
|
|
R0045:Arhgap30
|
UTSW |
1 |
171,408,430 (GRCm38) |
missense |
probably benign |
|
|
R0115:Arhgap30
|
UTSW |
1 |
171,407,948 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0320:Arhgap30
|
UTSW |
1 |
171,403,804 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0399:Arhgap30
|
UTSW |
1 |
171,404,816 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0945:Arhgap30
|
UTSW |
1 |
171,403,286 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1484:Arhgap30
|
UTSW |
1 |
171,403,271 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1595:Arhgap30
|
UTSW |
1 |
171,408,341 (GRCm38) |
missense |
probably benign |
|
|
R2173:Arhgap30
|
UTSW |
1 |
171,407,767 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2281:Arhgap30
|
UTSW |
1 |
171,389,328 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2864:Arhgap30
|
UTSW |
1 |
171,408,206 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4066:Arhgap30
|
UTSW |
1 |
171,408,323 (GRCm38) |
missense |
probably benign |
|
|
R4888:Arhgap30
|
UTSW |
1 |
171,409,312 (GRCm38) |
missense |
probably benign |
|
|
R4937:Arhgap30
|
UTSW |
1 |
171,403,329 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4944:Arhgap30
|
UTSW |
1 |
171,402,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5170:Arhgap30
|
UTSW |
1 |
171,408,050 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5218:Arhgap30
|
UTSW |
1 |
171,408,760 (GRCm38) |
missense |
probably benign |
|
|
R5385:Arhgap30
|
UTSW |
1 |
171,408,280 (GRCm38) |
missense |
probably benign |
|
|
R5541:Arhgap30
|
UTSW |
1 |
171,404,139 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6028:Arhgap30
|
UTSW |
1 |
171,408,320 (GRCm38) |
missense |
probably benign |
|
|
R6748:Arhgap30
|
UTSW |
1 |
171,404,810 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R6869:Arhgap30
|
UTSW |
1 |
171,409,055 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7223:Arhgap30
|
UTSW |
1 |
171,407,571 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8113:Arhgap30
|
UTSW |
1 |
171,397,518 (GRCm38) |
nonsense |
probably null |
|
|
R8543:Arhgap30
|
UTSW |
1 |
171,404,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8545:Arhgap30
|
UTSW |
1 |
171,407,430 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8682:Arhgap30
|
UTSW |
1 |
171,407,402 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8693:Arhgap30
|
UTSW |
1 |
171,397,526 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9026:Arhgap30
|
UTSW |
1 |
171,400,690 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9245:Arhgap30
|
UTSW |
1 |
171,408,389 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9515:Arhgap30
|
UTSW |
1 |
171,408,434 (GRCm38) |
missense |
probably benign |
0.38 |
|
R9524:Arhgap30
|
UTSW |
1 |
171,397,546 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9703:Arhgap30
|
UTSW |
1 |
171,407,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0020:Arhgap30
|
UTSW |
1 |
171,405,085 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
Z1177:Arhgap30
|
UTSW |
1 |
171,407,908 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1189:Arhgap30
|
UTSW |
1 |
171,408,370 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGGATTTGAGCAGCTCAG -3'
(R):5'- AGGGGACTCAGATCATCATAGG -3'
Sequencing Primer
(F):5'- ATTTGAGCAGCTCAGAGCCTG -3'
(R):5'- GGGACTCAGATCATCATAGGCACTC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation