Incidental Mutation 'R6979:Aspg'
ID |
542626 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aspg
|
Ensembl Gene |
ENSMUSG00000037686 |
Gene Name |
asparaginase |
Synonyms |
A530050D06Rik |
MMRRC Submission |
045087-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
R6979 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
112073113-112093993 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 112087378 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 278
(D278G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078369
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079400]
[ENSMUST00000223184]
|
AlphaFold |
A0JNU3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079400
AA Change: D278G
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000078369 Gene: ENSMUSG00000037686 AA Change: D278G
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: ENSMUST00000222970
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223184
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223412
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
C |
T |
3: 59,947,424 (GRCm39) |
T374M |
probably benign |
Het |
Aspm |
C |
A |
1: 139,408,223 (GRCm39) |
A2370E |
probably damaging |
Het |
Ccnt2 |
T |
C |
1: 127,702,873 (GRCm39) |
M65T |
probably damaging |
Het |
Cd163 |
A |
G |
6: 124,294,945 (GRCm39) |
T670A |
probably benign |
Het |
Cpne3 |
G |
A |
4: 19,533,098 (GRCm39) |
T279I |
probably benign |
Het |
Ctdspl |
G |
A |
9: 118,869,598 (GRCm39) |
V227M |
probably damaging |
Het |
Ctnnd2 |
A |
G |
15: 30,619,376 (GRCm39) |
E99G |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,896,095 (GRCm39) |
S728P |
probably damaging |
Het |
Dmxl2 |
A |
G |
9: 54,358,163 (GRCm39) |
I512T |
possibly damaging |
Het |
Dop1a |
A |
T |
9: 86,403,695 (GRCm39) |
T1630S |
possibly damaging |
Het |
Dqx1 |
A |
G |
6: 83,037,992 (GRCm39) |
D460G |
probably damaging |
Het |
Foxg1 |
T |
C |
12: 49,431,567 (GRCm39) |
|
probably benign |
Het |
H2-Q2 |
T |
A |
17: 35,564,623 (GRCm39) |
|
probably null |
Het |
Hes6 |
T |
C |
1: 91,340,810 (GRCm39) |
E17G |
possibly damaging |
Het |
Ighv1-42 |
T |
C |
12: 114,900,848 (GRCm39) |
Y79C |
possibly damaging |
Het |
Itfg2 |
T |
C |
6: 128,388,554 (GRCm39) |
D311G |
probably damaging |
Het |
Itgb5 |
T |
A |
16: 33,740,356 (GRCm39) |
C489S |
probably damaging |
Het |
Map4k5 |
A |
T |
12: 69,869,622 (GRCm39) |
C488S |
probably damaging |
Het |
Mark1 |
C |
T |
1: 184,644,825 (GRCm39) |
G377D |
possibly damaging |
Het |
Mat2a |
A |
G |
6: 72,412,096 (GRCm39) |
V318A |
probably damaging |
Het |
Mpp7 |
T |
G |
18: 7,355,049 (GRCm39) |
N459T |
possibly damaging |
Het |
Mrc2 |
C |
A |
11: 105,239,461 (GRCm39) |
N1348K |
probably damaging |
Het |
Mroh5 |
T |
C |
15: 73,664,978 (GRCm39) |
K264R |
probably benign |
Het |
Mtor |
A |
G |
4: 148,608,930 (GRCm39) |
M1529V |
possibly damaging |
Het |
Mtrr |
C |
T |
13: 68,718,122 (GRCm39) |
|
probably null |
Het |
Nwd1 |
C |
T |
8: 73,394,288 (GRCm39) |
P517L |
probably damaging |
Het |
Or4a27 |
T |
A |
2: 88,559,528 (GRCm39) |
R138S |
probably benign |
Het |
Or8h10 |
A |
G |
2: 86,808,577 (GRCm39) |
S188P |
probably damaging |
Het |
Polr1c |
A |
G |
17: 46,557,095 (GRCm39) |
F63L |
probably damaging |
Het |
Polrmt |
C |
T |
10: 79,582,400 (GRCm39) |
|
probably null |
Het |
Pomt2 |
T |
C |
12: 87,177,125 (GRCm39) |
I287M |
probably damaging |
Het |
Prkar2a |
T |
A |
9: 108,610,342 (GRCm39) |
N190K |
possibly damaging |
Het |
Prl3d3 |
T |
A |
13: 27,341,545 (GRCm39) |
Y59N |
possibly damaging |
Het |
Prl5a1 |
T |
A |
13: 28,335,189 (GRCm39) |
F199L |
probably benign |
Het |
Prpf38b |
A |
G |
3: 108,818,640 (GRCm39) |
V40A |
probably benign |
Het |
Ptchd1 |
T |
A |
X: 154,357,708 (GRCm39) |
Y499F |
probably damaging |
Het |
Ptgs1 |
A |
G |
2: 36,141,311 (GRCm39) |
D586G |
probably benign |
Het |
Slx4 |
T |
C |
16: 3,802,879 (GRCm39) |
K1312E |
probably damaging |
Het |
Smok3c |
A |
G |
5: 138,062,987 (GRCm39) |
D158G |
probably benign |
Het |
Spen |
A |
T |
4: 141,205,374 (GRCm39) |
D1084E |
unknown |
Het |
Tcp11l1 |
C |
T |
2: 104,536,784 (GRCm39) |
G27D |
probably benign |
Het |
Tep1 |
A |
G |
14: 51,076,094 (GRCm39) |
S1679P |
possibly damaging |
Het |
Tmem259 |
C |
T |
10: 79,814,391 (GRCm39) |
V322I |
possibly damaging |
Het |
Tmpo |
A |
T |
10: 90,988,359 (GRCm39) |
|
probably null |
Het |
Ttn |
C |
A |
2: 76,555,137 (GRCm39) |
A30623S |
probably damaging |
Het |
Ube2l3 |
G |
A |
16: 16,977,841 (GRCm39) |
|
probably benign |
Het |
Unkl |
A |
G |
17: 25,418,890 (GRCm39) |
D146G |
probably damaging |
Het |
Vmn1r51 |
A |
T |
6: 90,106,186 (GRCm39) |
H34L |
possibly damaging |
Het |
Vmn2r17 |
A |
G |
5: 109,576,265 (GRCm39) |
T379A |
possibly damaging |
Het |
Zfp35 |
G |
T |
18: 24,136,927 (GRCm39) |
G424C |
probably benign |
Het |
Zfp420 |
T |
A |
7: 29,575,446 (GRCm39) |
H555Q |
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 |
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 |
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'- ACCCTGCTTACCATGAGAGG -3'
(R):5'- TGATGTCATGTCGAAGCCCG -3'
Sequencing Primer
(F):5'- TTACCATGAGAGGGAAGTCAGATAG -3'
(R):5'- TGCCATGGCCTGTAGAGGAAC -3'
|
Posted On |
2018-11-28 |