Incidental Mutation 'IGL02199:Aspg'
ID |
284225 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Aspg
|
Ensembl Gene |
ENSMUSG00000037686 |
Gene Name |
asparaginase |
Synonyms |
A530050D06Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.157)
|
Stock # |
IGL02199
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
112073113-112093993 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 112087426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 294
(V294A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078369
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079400]
[ENSMUST00000223184]
|
AlphaFold |
A0JNU3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079400
AA Change: V294A
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000078369 Gene: ENSMUSG00000037686 AA Change: V294A
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
Brms1l |
A |
G |
12: 55,907,957 (GRCm39) |
|
probably benign |
Het |
Celf5 |
T |
A |
10: 81,318,318 (GRCm39) |
D41V |
possibly damaging |
Het |
Clcn3 |
T |
A |
8: 61,386,126 (GRCm39) |
K282* |
probably null |
Het |
Clcn3 |
T |
A |
8: 61,380,308 (GRCm39) |
T543S |
possibly damaging |
Het |
Ctsj |
T |
A |
13: 61,150,351 (GRCm39) |
N216I |
probably damaging |
Het |
Dusp28 |
A |
G |
1: 92,835,280 (GRCm39) |
|
probably benign |
Het |
Fbp1 |
A |
G |
13: 63,015,193 (GRCm39) |
I262T |
probably damaging |
Het |
Gata4 |
A |
G |
14: 63,437,912 (GRCm39) |
V413A |
possibly damaging |
Het |
Glb1 |
A |
G |
9: 114,303,015 (GRCm39) |
N617S |
probably benign |
Het |
Gm454 |
T |
A |
5: 138,202,285 (GRCm39) |
|
noncoding transcript |
Het |
Hesx1 |
A |
G |
14: 26,723,481 (GRCm39) |
S104G |
probably benign |
Het |
Igf2bp3 |
T |
C |
6: 49,065,458 (GRCm39) |
N478S |
probably benign |
Het |
Klrk1 |
T |
C |
6: 129,598,207 (GRCm39) |
|
probably null |
Het |
Lamb2 |
A |
G |
9: 108,357,824 (GRCm39) |
T116A |
possibly damaging |
Het |
Mbd2 |
T |
C |
18: 70,726,371 (GRCm39) |
V270A |
probably damaging |
Het |
Meis2 |
C |
T |
2: 115,830,737 (GRCm39) |
V259I |
probably benign |
Het |
Mtcl2 |
A |
T |
2: 156,872,865 (GRCm39) |
L882Q |
probably damaging |
Het |
Ngly1 |
T |
A |
14: 16,290,844 (GRCm38) |
I442K |
probably damaging |
Het |
Nrxn1 |
A |
G |
17: 90,344,686 (GRCm39) |
L409P |
probably damaging |
Het |
Otog |
G |
A |
7: 45,926,775 (GRCm39) |
V1175I |
possibly damaging |
Het |
Parp12 |
C |
T |
6: 39,073,524 (GRCm39) |
A434T |
probably benign |
Het |
Prrt3 |
G |
A |
6: 113,471,770 (GRCm39) |
P801S |
probably damaging |
Het |
Rps6ka2 |
G |
T |
17: 7,521,852 (GRCm39) |
|
probably benign |
Het |
Slc18a1 |
C |
A |
8: 69,496,632 (GRCm39) |
V344L |
probably benign |
Het |
Spg11 |
T |
A |
2: 121,890,034 (GRCm39) |
T2103S |
probably damaging |
Het |
Stoml2 |
A |
G |
4: 43,029,366 (GRCm39) |
|
probably benign |
Het |
Tshr |
T |
G |
12: 91,505,057 (GRCm39) |
L73R |
probably damaging |
Het |
Ylpm1 |
C |
T |
12: 85,080,779 (GRCm39) |
Q786* |
probably null |
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 |
|
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 |
R5458:Aspg
|
UTSW |
12 |
112,086,436 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
Posted On |
2015-04-16 |