Incidental Mutation 'R4270:Aspg'
ID |
322135 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aspg
|
Ensembl Gene |
ENSMUSG00000037686 |
Gene Name |
asparaginase |
Synonyms |
A530050D06Rik |
MMRRC Submission |
041075-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.157)
|
Stock # |
R4270 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
112073113-112093993 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 112087629 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 327
(S327P)
|
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: S327P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078369 Gene: ENSMUSG00000037686 AA Change: S327P
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 |
unknown
Transcript: ENSMUST00000222970
AA Change: S15P
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223184
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223412
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ash1l |
T |
A |
3: 88,889,347 (GRCm39) |
C409S |
probably benign |
Het |
Ccdc88c |
G |
T |
12: 100,913,478 (GRCm39) |
Q516K |
probably damaging |
Het |
Cdh11 |
T |
A |
8: 103,391,258 (GRCm39) |
D326V |
possibly damaging |
Het |
Ctsa |
G |
T |
2: 164,677,222 (GRCm39) |
M210I |
probably benign |
Het |
Ctsh |
A |
G |
9: 89,943,651 (GRCm39) |
H92R |
probably damaging |
Het |
Fanca |
A |
G |
8: 123,995,533 (GRCm39) |
L117P |
probably damaging |
Het |
Foxo1 |
A |
G |
3: 52,252,826 (GRCm39) |
T330A |
probably benign |
Het |
Ighv1-43 |
C |
G |
12: 114,909,772 (GRCm39) |
G50A |
probably benign |
Het |
Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
Kif26a |
C |
T |
12: 112,139,848 (GRCm39) |
S460F |
probably damaging |
Het |
Mxra8 |
C |
A |
4: 155,925,594 (GRCm39) |
P98Q |
probably damaging |
Het |
Nbr1 |
T |
C |
11: 101,458,048 (GRCm39) |
Y276H |
possibly damaging |
Het |
Nckap1l |
T |
C |
15: 103,381,549 (GRCm39) |
L430P |
possibly damaging |
Het |
Nubp2 |
A |
T |
17: 25,104,567 (GRCm39) |
C58S |
probably damaging |
Het |
Or8c10 |
A |
G |
9: 38,278,997 (GRCm39) |
N52D |
probably damaging |
Het |
Pramel51 |
A |
T |
12: 88,145,053 (GRCm39) |
I91K |
probably damaging |
Het |
Rbms3 |
T |
A |
9: 116,885,816 (GRCm39) |
N94I |
probably damaging |
Het |
Rimbp2 |
T |
G |
5: 128,896,841 (GRCm39) |
N23T |
probably benign |
Het |
Rwdd3 |
T |
C |
3: 120,952,550 (GRCm39) |
D147G |
probably damaging |
Het |
Slc30a5 |
T |
G |
13: 100,965,521 (GRCm39) |
R29S |
probably benign |
Het |
Syt10 |
C |
A |
15: 89,675,095 (GRCm39) |
R417L |
probably benign |
Het |
Trim58 |
T |
C |
11: 58,542,093 (GRCm39) |
V351A |
probably damaging |
Het |
Trpc3 |
G |
T |
3: 36,717,074 (GRCm39) |
Y321* |
probably null |
Het |
Vmn2r107 |
G |
T |
17: 20,576,041 (GRCm39) |
V124F |
probably benign |
Het |
Xkr7 |
T |
C |
2: 152,896,235 (GRCm39) |
V363A |
possibly damaging |
Het |
Zfp597 |
A |
T |
16: 3,689,954 (GRCm39) |
M1K |
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 |
|
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 |
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'- CTGTACCCATTGCCTTCAGG -3'
(R):5'- ATGAACTGGGTCAGCACTGG -3'
Sequencing Primer
(F):5'- CCTTCAGGGGGCTGTGACTTC -3'
(R):5'- GTCAGCACTGGCCCTATC -3'
|
Posted On |
2015-06-20 |