Incidental Mutation 'R1270:Aspg'
| ID |
151286 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aspg
|
| Ensembl Gene |
ENSMUSG00000037686 |
| Gene Name |
asparaginase |
| Synonyms |
A530050D06Rik |
| MMRRC Submission |
039336-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R1270 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
112073113-112093993 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 112082881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 187
(T187I)
|
| 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: T187I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078369
Gene: ENSMUSG00000037686
AA Change: T187I
| 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 |
probably benign
Transcript: ENSMUST00000220719
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221091
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222645
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222970
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000223184
AA Change: P86S
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223412
AA Change: T152I
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223457
|
| Meta Mutation Damage Score |
0.1470 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
C |
T |
11: 94,248,210 (GRCm39) |
R1129Q |
probably damaging |
Het |
| Adam7 |
T |
A |
14: 68,765,118 (GRCm39) |
K93M |
probably damaging |
Het |
| Aldh1a2 |
T |
G |
9: 71,188,988 (GRCm39) |
L301V |
probably benign |
Het |
| Alg9 |
A |
G |
9: 50,698,872 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,006,333 (GRCm39) |
H1662Q |
probably damaging |
Het |
| C4a |
A |
G |
17: 35,033,505 (GRCm39) |
|
noncoding transcript |
Het |
| Cdh2 |
T |
G |
18: 16,760,614 (GRCm39) |
|
probably benign |
Het |
| Ceacam1 |
T |
C |
7: 25,165,739 (GRCm39) |
|
probably null |
Het |
| Cep250 |
G |
A |
2: 155,832,601 (GRCm39) |
V1509I |
probably benign |
Het |
| D130043K22Rik |
T |
C |
13: 25,041,321 (GRCm39) |
S248P |
probably benign |
Het |
| Dgkd |
A |
T |
1: 87,861,847 (GRCm39) |
M801L |
probably damaging |
Het |
| Edc4 |
A |
G |
8: 106,617,896 (GRCm39) |
E1152G |
possibly damaging |
Het |
| Enkd1 |
A |
G |
8: 106,430,533 (GRCm39) |
I334T |
probably damaging |
Het |
| Gli3 |
C |
T |
13: 15,898,329 (GRCm39) |
A803V |
probably benign |
Het |
| Glrx3 |
A |
G |
7: 137,055,143 (GRCm39) |
N95S |
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,123,911 (GRCm39) |
G626R |
probably damaging |
Het |
| Kank2 |
A |
T |
9: 21,684,056 (GRCm39) |
N724K |
probably damaging |
Het |
| Kctd20 |
A |
G |
17: 29,185,905 (GRCm39) |
D416G |
possibly damaging |
Het |
| Lmtk3 |
A |
G |
7: 45,443,252 (GRCm39) |
E645G |
probably damaging |
Het |
| Mrgpra9 |
A |
T |
7: 46,902,531 (GRCm39) |
|
probably null |
Het |
| Muc1 |
T |
A |
3: 89,139,414 (GRCm39) |
Y605N |
probably damaging |
Het |
| Or4a47 |
C |
T |
2: 89,665,666 (GRCm39) |
V208M |
possibly damaging |
Het |
| Or8g17 |
A |
C |
9: 38,930,543 (GRCm39) |
I98R |
possibly damaging |
Het |
| Prx |
T |
A |
7: 27,218,355 (GRCm39) |
I952N |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,799,856 (GRCm39) |
Y90* |
probably null |
Het |
| Swt1 |
A |
T |
1: 151,260,142 (GRCm39) |
N752K |
probably benign |
Het |
| Taar1 |
T |
C |
10: 23,796,431 (GRCm39) |
V43A |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,932,486 (GRCm39) |
N1702D |
probably damaging |
Het |
| Tff2 |
C |
T |
17: 31,363,143 (GRCm39) |
|
probably null |
Het |
| Trim2 |
G |
A |
3: 84,074,984 (GRCm39) |
A686V |
probably damaging |
Het |
| Ube2q2l |
A |
T |
6: 136,378,785 (GRCm39) |
I15N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGTACCAGTAGTACACGCACC -3'
(R):5'- CTTATGCTCAGCACACAAGTCTCCC -3'
Sequencing Primer
(F):5'- CAGTAGTACACGCACCAGTGG -3'
(R):5'- GTCTCCCACCTCCACACATC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation