Incidental Mutation 'R8545:Arhgap30'
| ID |
659573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap30
|
| Ensembl Gene |
ENSMUSG00000048865 |
| Gene Name |
Rho GTPase activating protein 30 |
| Synonyms |
6030405P05Rik |
| MMRRC Submission |
068510-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8545 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
171216528-171237808 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 171234998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 488
(L488P)
|
| 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: L488P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059389
Gene: ENSMUSG00000048865
AA Change: L488P
| 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 |
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 |
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 |
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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(4) : Targeted(2) Gene trapped(2)
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,236,794 (GRCm39) |
Y1779C |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,450,084 (GRCm39) |
N2293D |
possibly damaging |
Het |
| Arhgap31 |
T |
A |
16: 38,423,408 (GRCm39) |
Q886L |
probably damaging |
Het |
| Arhgef10 |
T |
G |
8: 14,978,868 (GRCm39) |
V45G |
probably benign |
Het |
| Arhgef10 |
A |
G |
8: 15,025,931 (GRCm39) |
T812A |
possibly damaging |
Het |
| Bbs2 |
T |
C |
8: 94,813,352 (GRCm39) |
S246G |
probably benign |
Het |
| Cby3 |
T |
C |
11: 50,250,243 (GRCm39) |
S150P |
probably benign |
Het |
| Cdc40 |
A |
G |
10: 40,723,939 (GRCm39) |
V283A |
probably benign |
Het |
| Cox15 |
A |
T |
19: 43,728,421 (GRCm39) |
V284E |
probably damaging |
Het |
| Cyp4a12b |
A |
T |
4: 115,290,227 (GRCm39) |
H260L |
probably benign |
Het |
| Dph6 |
G |
A |
2: 114,478,248 (GRCm39) |
A31V |
probably damaging |
Het |
| Dsc2 |
G |
A |
18: 20,167,722 (GRCm39) |
Q123* |
probably null |
Het |
| Eftud2 |
A |
G |
11: 102,731,097 (GRCm39) |
F810S |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,467,996 (GRCm39) |
|
probably benign |
Het |
| Gm49368 |
T |
C |
7: 127,679,433 (GRCm39) |
Y192H |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,279,257 (GRCm39) |
L55* |
probably null |
Het |
| Hgsnat |
T |
C |
8: 26,445,707 (GRCm39) |
T396A |
probably benign |
Het |
| Il17rd |
T |
G |
14: 26,813,886 (GRCm39) |
F55C |
probably damaging |
Het |
| Mad1l1 |
A |
C |
5: 140,286,249 (GRCm39) |
M250R |
probably benign |
Het |
| Muc15 |
A |
T |
2: 110,561,581 (GRCm39) |
K6* |
probably null |
Het |
| Muc2 |
A |
G |
7: 141,306,130 (GRCm39) |
N273S |
unknown |
Het |
| Myh1 |
T |
A |
11: 67,093,027 (GRCm39) |
Y78N |
probably benign |
Het |
| Pcdh20 |
T |
A |
14: 88,706,601 (GRCm39) |
H233L |
probably damaging |
Het |
| Pcnx4 |
G |
A |
12: 72,602,856 (GRCm39) |
A373T |
probably benign |
Het |
| Phf3 |
A |
T |
1: 30,863,391 (GRCm39) |
M778K |
possibly damaging |
Het |
| Pigg |
A |
T |
5: 108,489,726 (GRCm39) |
D644V |
probably damaging |
Het |
| Rnf148 |
A |
T |
6: 23,654,570 (GRCm39) |
I142N |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,704,239 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Tapbp |
A |
G |
17: 34,139,291 (GRCm39) |
M87V |
possibly damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,652,779 (GRCm39) |
Y114C |
probably benign |
Het |
| Tet1 |
A |
T |
10: 62,648,718 (GRCm39) |
W1905R |
probably damaging |
Het |
| Tmem109 |
G |
A |
19: 10,851,734 (GRCm39) |
R37* |
probably null |
Het |
| Wdfy4 |
T |
C |
14: 32,800,258 (GRCm39) |
Y1802C |
probably benign |
Het |
| Zbtb17 |
CCCCCACCTCCACAGACCCCA |
CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA |
4: 141,194,139 (GRCm39) |
|
probably benign |
Het |
| Zcchc4 |
G |
A |
5: 52,976,741 (GRCm39) |
|
probably benign |
Het |
| Zfp646 |
T |
C |
7: 127,484,662 (GRCm39) |
S1772P |
probably benign |
Het |
| Zfp820 |
A |
G |
17: 22,038,438 (GRCm39) |
C297R |
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 |
|
|
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 |
|
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'- TAAATACTGGGAGTGTTGGGCC -3'
(R):5'- AGCGAATCTCCTCCTTACCTGAG -3'
Sequencing Primer
(F):5'- CCCTAGCATGTCAATGTGAGG -3'
(R):5'- TTACCTGAGGCCCAACTCTCAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation