Incidental Mutation 'R7137:Aspg'
ID |
553142 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aspg
|
Ensembl Gene |
ENSMUSG00000037686 |
Gene Name |
asparaginase |
Synonyms |
A530050D06Rik |
MMRRC Submission |
045248-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.157)
|
Stock # |
R7137 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
112073113-112093993 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 112078632 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 30
(V30A)
|
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: V30A
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000078369 Gene: ENSMUSG00000037686 AA Change: V30A
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223184
|
Predicted Effect |
|
Meta Mutation Damage Score |
0.0871 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
C |
6: 121,654,944 (GRCm39) |
S1423P |
possibly damaging |
Het |
Acvr1c |
A |
G |
2: 58,173,399 (GRCm39) |
|
probably null |
Het |
Adgrf5 |
A |
G |
17: 43,761,788 (GRCm39) |
K1161R |
probably damaging |
Het |
Aoc1l3 |
A |
G |
6: 48,967,083 (GRCm39) |
Y677C |
probably damaging |
Het |
Arhgap32 |
T |
G |
9: 32,063,232 (GRCm39) |
D80E |
probably benign |
Het |
Bcl2a1d |
T |
C |
9: 88,613,531 (GRCm39) |
D81G |
probably damaging |
Het |
Cep170b |
T |
C |
12: 112,701,601 (GRCm39) |
V160A |
probably benign |
Het |
Ces1c |
T |
C |
8: 93,857,470 (GRCm39) |
Y37C |
probably benign |
Het |
Cntnap5a |
T |
C |
1: 116,017,106 (GRCm39) |
L233P |
probably damaging |
Het |
Crem |
C |
A |
18: 3,273,459 (GRCm39) |
A245S |
possibly damaging |
Het |
Cyp2d12 |
C |
T |
15: 82,442,022 (GRCm39) |
A280V |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,382,381 (GRCm39) |
G1243D |
probably damaging |
Het |
Eif1ad19 |
A |
T |
12: 87,740,316 (GRCm39) |
L81Q |
possibly damaging |
Het |
Emcn |
T |
G |
3: 137,109,752 (GRCm39) |
N131K |
probably damaging |
Het |
Fat3 |
A |
T |
9: 15,908,444 (GRCm39) |
D2519E |
probably damaging |
Het |
Fibin |
T |
A |
2: 110,193,001 (GRCm39) |
D47V |
probably damaging |
Het |
Fsd1 |
G |
A |
17: 56,300,876 (GRCm39) |
R245H |
probably damaging |
Het |
Gimap8 |
C |
A |
6: 48,627,187 (GRCm39) |
L54I |
probably damaging |
Het |
Gm20481 |
A |
G |
17: 35,189,071 (GRCm39) |
Y27C |
unknown |
Het |
Grin1 |
T |
G |
2: 25,203,550 (GRCm39) |
M154L |
probably benign |
Het |
Ighv8-13 |
A |
G |
12: 115,729,197 (GRCm39) |
L20P |
probably damaging |
Het |
Insc |
G |
A |
7: 114,410,850 (GRCm39) |
V236I |
probably benign |
Het |
Lrrk1 |
A |
G |
7: 65,935,027 (GRCm39) |
F1031L |
probably benign |
Het |
Man2a2 |
C |
A |
7: 80,009,499 (GRCm39) |
R785L |
probably benign |
Het |
Mcur1 |
C |
A |
13: 43,697,931 (GRCm39) |
|
probably null |
Het |
Med12l |
A |
C |
3: 59,165,675 (GRCm39) |
R1464S |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,520,115 (GRCm39) |
M767K |
possibly damaging |
Het |
Naalad2 |
T |
C |
9: 18,234,783 (GRCm39) |
I762V |
probably benign |
Het |
Nfkbid |
A |
G |
7: 30,125,681 (GRCm39) |
T357A |
possibly damaging |
Het |
Pcdh17 |
A |
G |
14: 84,770,989 (GRCm39) |
R1156G |
possibly damaging |
Het |
Pcdhb1 |
T |
C |
18: 37,400,445 (GRCm39) |
S799P |
possibly damaging |
Het |
Pde3a |
A |
T |
6: 141,444,472 (GRCm39) |
E1093D |
probably benign |
Het |
Plcg1 |
T |
C |
2: 160,595,846 (GRCm39) |
Y572H |
possibly damaging |
Het |
Plxna4 |
A |
G |
6: 32,494,199 (GRCm39) |
L139P |
probably damaging |
Het |
Psma1 |
A |
G |
7: 113,873,683 (GRCm39) |
Y6H |
probably damaging |
Het |
Psmd2 |
A |
G |
16: 20,471,377 (GRCm39) |
E76G |
probably benign |
Het |
Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
Pyy |
T |
G |
11: 101,998,099 (GRCm39) |
D27A |
possibly damaging |
Het |
Slc22a2 |
A |
G |
17: 12,803,228 (GRCm39) |
T21A |
probably benign |
Het |
Slc25a2 |
T |
C |
18: 37,771,200 (GRCm39) |
I110V |
probably benign |
Het |
Sult1c2 |
A |
C |
17: 54,145,422 (GRCm39) |
W85G |
probably damaging |
Het |
Syt12 |
C |
T |
19: 4,503,978 (GRCm39) |
D218N |
probably damaging |
Het |
Tln1 |
C |
T |
4: 43,540,616 (GRCm39) |
V1462M |
probably damaging |
Het |
Tor1aip2 |
T |
A |
1: 155,927,722 (GRCm39) |
N33K |
possibly damaging |
Het |
Usp17lb |
C |
A |
7: 104,490,798 (GRCm39) |
W43L |
probably benign |
Het |
Vmn1r76 |
A |
G |
7: 11,664,612 (GRCm39) |
Y201H |
possibly damaging |
Het |
Wnk1 |
C |
A |
6: 120,015,173 (GRCm39) |
|
probably benign |
Het |
Wrnip1 |
A |
G |
13: 32,986,732 (GRCm39) |
D171G |
probably benign |
Het |
Zar1 |
T |
A |
5: 72,738,159 (GRCm39) |
N81I |
probably damaging |
Het |
Zbtb45 |
T |
C |
7: 12,741,083 (GRCm39) |
T392A |
probably benign |
Het |
Zfp445 |
T |
C |
9: 122,683,843 (GRCm39) |
E272G |
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 |
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 |
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'- GAATGCCAAAGCTTCCAGATG -3'
(R):5'- CATGCTATCAACCCTAGGCCAG -3'
Sequencing Primer
(F):5'- TGAAACTCTTACCTAAGCTACCTGGG -3'
(R):5'- TAGGCCAGCCGCACATC -3'
|
Posted On |
2019-05-15 |