Incidental Mutation 'R0045:Arhgap30'
| ID |
32733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap30
|
| Ensembl Gene |
ENSMUSG00000048865 |
| Gene Name |
Rho GTPase activating protein 30 |
| Synonyms |
6030405P05Rik |
| MMRRC Submission |
038339-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0045 (G1)
|
| Quality Score |
133 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171216528-171237808 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 171235998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 791
(S791G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001284]
[ENSMUST00000056449]
[ENSMUST00000159207]
[ENSMUST00000161241]
[ENSMUST00000160486]
[ENSMUST00000167546]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001284
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056449
AA Change: S791G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000059389
Gene: ENSMUSG00000048865
AA Change: S791G
| 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 |
noncoding transcript
Transcript: ENSMUST00000161297
|
| 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 |
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: 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.1%
|
| Validation Efficiency |
100% (75/75) |
| Allele List at MGI |
All alleles(4) : Targeted(2) Gene trapped(2)
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,220,148 (GRCm39) |
N299S |
probably damaging |
Het |
| Abi3 |
A |
G |
11: 95,723,541 (GRCm39) |
*368R |
probably null |
Het |
| Agbl1 |
T |
C |
7: 76,348,588 (GRCm39) |
|
probably null |
Het |
| Ap3b2 |
T |
C |
7: 81,115,941 (GRCm39) |
D650G |
possibly damaging |
Het |
| Arvcf |
T |
A |
16: 18,222,208 (GRCm39) |
L722Q |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,594,498 (GRCm39) |
R1198* |
probably null |
Het |
| Atf2 |
G |
T |
2: 73,660,200 (GRCm39) |
T189N |
probably benign |
Het |
| Atf7ip |
A |
G |
6: 136,536,814 (GRCm39) |
K16E |
probably damaging |
Het |
| Atg9b |
G |
T |
5: 24,592,396 (GRCm39) |
Q621K |
probably damaging |
Het |
| Atp12a |
G |
A |
14: 56,610,330 (GRCm39) |
E234K |
probably damaging |
Het |
| C8a |
T |
C |
4: 104,684,012 (GRCm39) |
K368E |
probably benign |
Het |
| Ccdc168 |
T |
C |
1: 44,096,365 (GRCm39) |
K1578E |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,366,757 (GRCm39) |
Y241C |
probably damaging |
Het |
| Cdon |
G |
A |
9: 35,398,103 (GRCm39) |
S940N |
probably benign |
Het |
| Cds2 |
G |
T |
2: 132,147,075 (GRCm39) |
G402V |
possibly damaging |
Het |
| Cog6 |
T |
C |
3: 52,900,171 (GRCm39) |
|
probably null |
Het |
| Commd10 |
T |
C |
18: 47,100,903 (GRCm39) |
S114P |
possibly damaging |
Het |
| Dram2 |
T |
C |
3: 106,478,133 (GRCm39) |
V155A |
possibly damaging |
Het |
| Egr2 |
T |
A |
10: 67,376,310 (GRCm39) |
V252E |
probably benign |
Het |
| Exoc3l |
C |
T |
8: 106,020,317 (GRCm39) |
V203M |
probably damaging |
Het |
| Fsip1 |
C |
A |
2: 118,078,773 (GRCm39) |
|
probably null |
Het |
| Gm10840 |
C |
A |
11: 106,051,926 (GRCm39) |
|
probably benign |
Het |
| Gpr37l1 |
A |
G |
1: 135,088,883 (GRCm39) |
L394P |
probably damaging |
Het |
| Gsap |
T |
C |
5: 21,431,830 (GRCm39) |
M243T |
possibly damaging |
Het |
| Hsd3b5 |
T |
A |
3: 98,526,460 (GRCm39) |
I329F |
probably benign |
Het |
| Htra1 |
T |
A |
7: 130,563,262 (GRCm39) |
S164R |
probably damaging |
Het |
| Il17b |
G |
A |
18: 61,823,315 (GRCm39) |
V50M |
probably damaging |
Het |
| Itga4 |
A |
T |
2: 79,131,375 (GRCm39) |
Y581F |
probably damaging |
Het |
| Jmjd8 |
A |
G |
17: 26,048,255 (GRCm39) |
E92G |
probably damaging |
Het |
| Kcnq4 |
T |
A |
4: 120,555,152 (GRCm39) |
D677V |
probably damaging |
Het |
| Klhl42 |
A |
G |
6: 146,993,666 (GRCm39) |
T213A |
probably benign |
Het |
| Lcn5 |
T |
C |
2: 25,550,710 (GRCm39) |
S133P |
probably damaging |
Het |
| Liph |
T |
C |
16: 21,786,803 (GRCm39) |
Y271C |
probably damaging |
Het |
| Lpcat3 |
T |
C |
6: 124,678,437 (GRCm39) |
I228T |
probably benign |
Het |
| Lrrd1 |
A |
G |
5: 3,916,418 (GRCm39) |
K812E |
possibly damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,860,062 (GRCm39) |
T631A |
probably damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,856,361 (GRCm39) |
T701I |
probably damaging |
Het |
| Mavs |
G |
A |
2: 131,080,751 (GRCm39) |
R13Q |
probably damaging |
Het |
| Mtor |
C |
G |
4: 148,549,406 (GRCm39) |
H597D |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,410,555 (GRCm39) |
H1309Q |
unknown |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Nnat |
A |
T |
2: 157,402,408 (GRCm39) |
|
probably benign |
Het |
| Or14c40 |
T |
C |
7: 86,313,548 (GRCm39) |
L226S |
possibly damaging |
Het |
| Or2ag19 |
T |
A |
7: 106,444,596 (GRCm39) |
Y259* |
probably null |
Het |
| Or5h17 |
G |
A |
16: 58,820,854 (GRCm39) |
D269N |
probably benign |
Het |
| Or7e175 |
A |
T |
9: 20,048,487 (GRCm39) |
Q25L |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,589,485 (GRCm39) |
A595V |
unknown |
Het |
| Pcsk6 |
T |
A |
7: 65,612,676 (GRCm39) |
C315S |
probably damaging |
Het |
| Pkd2 |
T |
A |
5: 104,603,671 (GRCm39) |
|
probably benign |
Het |
| Ppp2r3c |
T |
A |
12: 55,340,606 (GRCm39) |
I155F |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,029,122 (GRCm39) |
H398R |
possibly damaging |
Het |
| Ripor2 |
A |
G |
13: 24,878,209 (GRCm39) |
D328G |
probably damaging |
Het |
| Rpgrip1 |
A |
T |
14: 52,378,601 (GRCm39) |
T509S |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,255,622 (GRCm39) |
I1032T |
probably damaging |
Het |
| Slc25a13 |
A |
T |
6: 6,109,277 (GRCm39) |
S362T |
probably benign |
Het |
| Stk35 |
A |
T |
2: 129,642,488 (GRCm39) |
R10* |
probably null |
Het |
| Tal1 |
A |
G |
4: 114,925,762 (GRCm39) |
D277G |
probably damaging |
Het |
| Tecta |
G |
A |
9: 42,286,487 (GRCm39) |
T723I |
probably damaging |
Het |
| Trp53bp1 |
A |
C |
2: 121,034,978 (GRCm39) |
V103G |
probably benign |
Het |
| Trpv4 |
A |
G |
5: 114,774,518 (GRCm39) |
S189P |
probably benign |
Het |
| Ttll5 |
T |
G |
12: 85,926,133 (GRCm39) |
|
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,584,143 (GRCm39) |
T451A |
probably benign |
Het |
| Vac14 |
G |
A |
8: 111,363,584 (GRCm39) |
D340N |
probably benign |
Het |
| Vars1 |
C |
A |
17: 35,217,042 (GRCm39) |
A471S |
probably benign |
Het |
| Vars1 |
A |
T |
17: 35,229,595 (GRCm39) |
H404L |
probably damaging |
Het |
| Vmn2r70 |
T |
C |
7: 85,215,252 (GRCm39) |
N94S |
probably damaging |
Het |
| Vpreb1b |
T |
C |
16: 17,798,631 (GRCm39) |
L39P |
probably damaging |
Het |
| Vps13a |
A |
T |
19: 16,618,174 (GRCm39) |
L693* |
probably null |
Het |
| Wapl |
A |
G |
14: 34,455,751 (GRCm39) |
I176V |
probably benign |
Het |
| Wdr31 |
G |
T |
4: 62,382,270 (GRCm39) |
L4I |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGTGTGGGAAACAACCTCCAAC -3'
(R):5'- GGTCACCAACACCTCTCATGACTTC -3'
Sequencing Primer
(F):5'- TGCTCAGAAACCAGGCAG -3'
(R):5'- CATGACTTCAGTTTCTACGTCTATAC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation