Incidental Mutation 'R5458:Aspg'
ID |
432896 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aspg
|
Ensembl Gene |
ENSMUSG00000037686 |
Gene Name |
asparaginase |
Synonyms |
A530050D06Rik |
MMRRC Submission |
043021-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.157)
|
Stock # |
R5458 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
112073113-112093993 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 112086436 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 230
(V230A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078369
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079400]
[ENSMUST00000223184]
|
AlphaFold |
A0JNU3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079400
AA Change: V230A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000078369 Gene: ENSMUSG00000037686 AA Change: V230A
Domain | Start | End | E-Value | Type |
Asparaginase
|
10 |
348 |
2.67e-111 |
SMART |
ANK
|
396 |
426 |
4.05e2 |
SMART |
ANK
|
430 |
459 |
4.46e-7 |
SMART |
ANK
|
463 |
494 |
1.1e2 |
SMART |
ANK
|
530 |
559 |
4.73e2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222645
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222970
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223184
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223412
|
Meta Mutation Damage Score |
0.2965 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acrbp |
A |
G |
6: 125,027,013 (GRCm39) |
|
probably benign |
Het |
Acsl5 |
A |
G |
19: 55,282,662 (GRCm39) |
D589G |
probably damaging |
Het |
Akap13 |
T |
A |
7: 75,236,049 (GRCm39) |
L208Q |
probably damaging |
Het |
Ankfn1 |
C |
T |
11: 89,325,636 (GRCm39) |
R512K |
probably benign |
Het |
Ankhd1 |
T |
C |
18: 36,781,538 (GRCm39) |
S2197P |
probably benign |
Het |
Ankrd27 |
A |
G |
7: 35,291,236 (GRCm39) |
N11D |
probably damaging |
Het |
Atp2c1 |
A |
T |
9: 105,291,924 (GRCm39) |
Y709* |
probably null |
Het |
Atp8b2 |
T |
C |
3: 89,853,329 (GRCm39) |
N748D |
probably benign |
Het |
B4galnt3 |
A |
G |
6: 120,187,346 (GRCm39) |
V684A |
probably damaging |
Het |
Bco2 |
T |
C |
9: 50,456,644 (GRCm39) |
|
probably null |
Het |
Bcr |
T |
C |
10: 74,990,792 (GRCm39) |
V766A |
probably benign |
Het |
Brca1 |
T |
C |
11: 101,408,111 (GRCm39) |
N1404S |
possibly damaging |
Het |
Cfap251 |
A |
G |
5: 123,392,508 (GRCm39) |
|
probably benign |
Het |
Chd1 |
A |
G |
17: 15,958,811 (GRCm39) |
D621G |
probably damaging |
Het |
Chek1 |
A |
G |
9: 36,625,725 (GRCm39) |
S307P |
probably benign |
Het |
Dhx29 |
T |
C |
13: 113,103,155 (GRCm39) |
M1345T |
probably benign |
Het |
Dnah6 |
T |
A |
6: 73,063,168 (GRCm39) |
T2697S |
probably damaging |
Het |
Ephb4 |
T |
C |
5: 137,368,114 (GRCm39) |
V753A |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,466,090 (GRCm39) |
Y1427H |
probably damaging |
Het |
Fggy |
A |
G |
4: 95,814,980 (GRCm39) |
Q445R |
probably benign |
Het |
Fv1 |
A |
G |
4: 147,954,726 (GRCm39) |
S431G |
probably benign |
Het |
Gm5965 |
A |
T |
16: 88,575,395 (GRCm39) |
R189S |
probably benign |
Het |
Gnas |
A |
G |
2: 174,140,124 (GRCm39) |
I98V |
probably benign |
Het |
Ino80 |
T |
C |
2: 119,242,910 (GRCm39) |
N1086D |
possibly damaging |
Het |
Lclat1 |
T |
C |
17: 73,546,914 (GRCm39) |
L277P |
probably damaging |
Het |
Lipc |
T |
C |
9: 70,759,864 (GRCm39) |
|
probably benign |
Het |
Myo3a |
T |
C |
2: 22,250,361 (GRCm39) |
I76T |
probably damaging |
Het |
Nkpd1 |
C |
A |
7: 19,258,201 (GRCm39) |
A510E |
probably damaging |
Het |
Nlgn2 |
G |
T |
11: 69,718,726 (GRCm39) |
Q285K |
possibly damaging |
Het |
Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
Pax5 |
T |
C |
4: 44,679,526 (GRCm39) |
D172G |
probably damaging |
Het |
Pcdh15 |
T |
A |
10: 74,340,611 (GRCm39) |
V1115D |
probably damaging |
Het |
Pdzd7 |
T |
C |
19: 45,016,230 (GRCm39) |
S964G |
probably benign |
Het |
Phip |
G |
T |
9: 82,808,553 (GRCm39) |
P474Q |
probably benign |
Het |
Pop5 |
C |
T |
5: 115,378,496 (GRCm39) |
|
probably benign |
Het |
Ppfibp1 |
A |
T |
6: 146,913,933 (GRCm39) |
|
probably benign |
Het |
Rdh11 |
C |
T |
12: 79,235,279 (GRCm39) |
A106T |
probably benign |
Het |
Rin3 |
A |
G |
12: 102,339,975 (GRCm39) |
T642A |
probably damaging |
Het |
Scmh1 |
C |
T |
4: 120,362,478 (GRCm39) |
|
probably benign |
Het |
Skint2 |
A |
G |
4: 112,481,377 (GRCm39) |
H80R |
possibly damaging |
Het |
Spata16 |
A |
T |
3: 26,831,686 (GRCm39) |
N265I |
probably damaging |
Het |
Srpk1 |
T |
C |
17: 28,818,446 (GRCm39) |
|
probably null |
Het |
Tcaf1 |
T |
C |
6: 42,663,476 (GRCm39) |
T135A |
probably benign |
Het |
Trappc12 |
A |
G |
12: 28,796,389 (GRCm39) |
V381A |
probably damaging |
Het |
Trim33 |
T |
A |
3: 103,237,496 (GRCm39) |
I184K |
possibly damaging |
Het |
Unc13a |
C |
T |
8: 72,116,889 (GRCm39) |
V62M |
probably damaging |
Het |
Vrk2 |
A |
G |
11: 26,448,919 (GRCm39) |
V225A |
probably damaging |
Het |
Wdr95 |
C |
T |
5: 149,487,879 (GRCm39) |
P171L |
probably damaging |
Het |
Wsb1 |
T |
C |
11: 79,139,262 (GRCm39) |
T75A |
probably damaging |
Het |
|
Other mutations in Aspg |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01462:Aspg
|
APN |
12 |
112,089,387 (GRCm39) |
missense |
probably benign |
|
IGL02199:Aspg
|
APN |
12 |
112,087,426 (GRCm39) |
missense |
probably benign |
0.39 |
R0704:Aspg
|
UTSW |
12 |
112,080,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R0730:Aspg
|
UTSW |
12 |
112,078,693 (GRCm39) |
nonsense |
probably null |
|
R1196:Aspg
|
UTSW |
12 |
112,082,958 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1270:Aspg
|
UTSW |
12 |
112,082,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R1466:Aspg
|
UTSW |
12 |
112,088,286 (GRCm39) |
missense |
probably benign |
0.20 |
R1466:Aspg
|
UTSW |
12 |
112,088,286 (GRCm39) |
missense |
probably benign |
0.20 |
R1592:Aspg
|
UTSW |
12 |
112,086,406 (GRCm39) |
missense |
probably benign |
0.17 |
R1826:Aspg
|
UTSW |
12 |
112,089,852 (GRCm39) |
missense |
probably damaging |
0.99 |
R1859:Aspg
|
UTSW |
12 |
112,087,606 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2124:Aspg
|
UTSW |
12 |
112,087,608 (GRCm39) |
missense |
probably benign |
0.15 |
R2154:Aspg
|
UTSW |
12 |
112,087,408 (GRCm39) |
missense |
probably benign |
0.01 |
R2190:Aspg
|
UTSW |
12 |
112,091,322 (GRCm39) |
missense |
probably damaging |
0.96 |
R2221:Aspg
|
UTSW |
12 |
112,080,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R2223:Aspg
|
UTSW |
12 |
112,080,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R3907:Aspg
|
UTSW |
12 |
112,078,693 (GRCm39) |
nonsense |
probably null |
|
R4234:Aspg
|
UTSW |
12 |
112,089,750 (GRCm39) |
nonsense |
probably null |
|
R4258:Aspg
|
UTSW |
12 |
112,087,687 (GRCm39) |
missense |
probably benign |
0.00 |
R4270:Aspg
|
UTSW |
12 |
112,087,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R4271:Aspg
|
UTSW |
12 |
112,087,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R5386:Aspg
|
UTSW |
12 |
112,089,466 (GRCm39) |
missense |
probably benign |
0.01 |
R5431:Aspg
|
UTSW |
12 |
112,089,846 (GRCm39) |
missense |
probably benign |
0.13 |
R5941:Aspg
|
UTSW |
12 |
112,079,519 (GRCm39) |
missense |
probably benign |
0.02 |
R6003:Aspg
|
UTSW |
12 |
112,079,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R6057:Aspg
|
UTSW |
12 |
112,087,432 (GRCm39) |
missense |
probably damaging |
0.96 |
R6928:Aspg
|
UTSW |
12 |
112,093,123 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6979:Aspg
|
UTSW |
12 |
112,087,378 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6998:Aspg
|
UTSW |
12 |
112,078,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R7054:Aspg
|
UTSW |
12 |
112,092,824 (GRCm39) |
missense |
probably damaging |
0.98 |
R7060:Aspg
|
UTSW |
12 |
112,089,387 (GRCm39) |
missense |
probably benign |
|
R7124:Aspg
|
UTSW |
12 |
112,089,417 (GRCm39) |
missense |
probably damaging |
0.99 |
R7137:Aspg
|
UTSW |
12 |
112,078,632 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7439:Aspg
|
UTSW |
12 |
112,091,255 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7441:Aspg
|
UTSW |
12 |
112,091,255 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8922:Aspg
|
UTSW |
12 |
112,089,830 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9463:Aspg
|
UTSW |
12 |
112,089,824 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Aspg
|
UTSW |
12 |
112,079,515 (GRCm39) |
missense |
possibly damaging |
0.58 |
Z1177:Aspg
|
UTSW |
12 |
112,087,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTATGAACTGAGGTGCCTG -3'
(R):5'- TCTGTGAAGACCTTGGCCTGAG -3'
Sequencing Primer
(F):5'- TGAGGTGCCTGCCTGAG -3'
(R):5'- TGAGCAAGGCCACCAGG -3'
|
Posted On |
2016-10-06 |