Incidental Mutation 'R1592:Aspg'
| ID |
175685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aspg
|
| Ensembl Gene |
ENSMUSG00000037686 |
| Gene Name |
asparaginase |
| Synonyms |
A530050D06Rik |
| MMRRC Submission |
039629-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R1592 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
112073113-112093993 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 112086406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 220
(R220Q)
|
| 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: R220Q
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000078369
Gene: ENSMUSG00000037686
AA Change: R220Q
| 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
|
| Meta Mutation Damage Score |
0.2131 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
C |
5: 121,783,444 (GRCm39) |
E327G |
probably damaging |
Het |
| Acp5 |
A |
T |
9: 22,039,147 (GRCm39) |
W189R |
probably damaging |
Het |
| Adamts8 |
T |
C |
9: 30,854,472 (GRCm39) |
S114P |
probably damaging |
Het |
| Alkbh3 |
A |
C |
2: 93,838,769 (GRCm39) |
|
probably null |
Het |
| Ankrd13d |
T |
C |
19: 4,332,919 (GRCm39) |
H27R |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,339,853 (GRCm39) |
N382S |
probably benign |
Het |
| Atg16l2 |
C |
A |
7: 100,941,193 (GRCm39) |
G403V |
probably damaging |
Het |
| Bcat1 |
G |
T |
6: 144,955,784 (GRCm39) |
Q299K |
probably benign |
Het |
| Cc2d1b |
C |
T |
4: 108,483,868 (GRCm39) |
|
probably benign |
Het |
| Cdh26 |
T |
C |
2: 178,091,684 (GRCm39) |
F81S |
probably damaging |
Het |
| Cnbd2 |
A |
G |
2: 156,177,322 (GRCm39) |
I222M |
probably benign |
Het |
| Ephb3 |
T |
C |
16: 21,040,450 (GRCm39) |
V562A |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,838,199 (GRCm39) |
T2682A |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,182,696 (GRCm39) |
|
probably null |
Het |
| Fat4 |
A |
T |
3: 39,061,326 (GRCm39) |
D4303V |
probably damaging |
Het |
| Fbln1 |
T |
A |
15: 85,115,665 (GRCm39) |
S234T |
probably benign |
Het |
| Gldc |
G |
A |
19: 30,138,077 (GRCm39) |
|
probably benign |
Het |
| Gli1 |
A |
C |
10: 127,167,198 (GRCm39) |
V685G |
probably damaging |
Het |
| H2-T22 |
T |
C |
17: 36,352,469 (GRCm39) |
N152S |
probably damaging |
Het |
| Inpp5d |
A |
T |
1: 87,593,254 (GRCm39) |
D118V |
possibly damaging |
Het |
| Ints10 |
A |
G |
8: 69,255,555 (GRCm39) |
I182V |
possibly damaging |
Het |
| Ipcef1 |
C |
T |
10: 6,885,182 (GRCm39) |
|
probably null |
Het |
| Kcnj3 |
G |
T |
2: 55,327,898 (GRCm39) |
R229L |
probably damaging |
Het |
| Klf11 |
C |
A |
12: 24,703,737 (GRCm39) |
D57E |
probably damaging |
Het |
| Krt73 |
G |
T |
15: 101,710,674 (GRCm39) |
S20* |
probably null |
Het |
| Lactbl1 |
A |
G |
4: 136,363,187 (GRCm39) |
|
probably null |
Het |
| Mapk10 |
T |
C |
5: 103,186,487 (GRCm39) |
D45G |
possibly damaging |
Het |
| Mfrp |
G |
A |
9: 44,014,519 (GRCm39) |
C222Y |
probably damaging |
Het |
| Mga |
A |
T |
2: 119,795,147 (GRCm39) |
I2944F |
possibly damaging |
Het |
| Msh2 |
A |
G |
17: 87,987,441 (GRCm39) |
|
probably null |
Het |
| Nckap1l |
T |
A |
15: 103,390,607 (GRCm39) |
|
probably null |
Het |
| Or5m9 |
A |
G |
2: 85,877,333 (GRCm39) |
N169S |
probably benign |
Het |
| Pitpnm1 |
T |
A |
19: 4,156,964 (GRCm39) |
|
probably null |
Het |
| Sik2 |
C |
T |
9: 50,906,971 (GRCm39) |
V85I |
probably damaging |
Het |
| Slc26a7 |
T |
A |
4: 14,552,470 (GRCm39) |
E229V |
probably benign |
Het |
| Spty2d1 |
A |
T |
7: 46,648,637 (GRCm39) |
D97E |
possibly damaging |
Het |
| Tcaim |
G |
A |
9: 122,647,838 (GRCm39) |
|
probably null |
Het |
| Tdrd3 |
T |
A |
14: 87,743,322 (GRCm39) |
N417K |
probably damaging |
Het |
| Uggt1 |
C |
A |
1: 36,241,939 (GRCm39) |
A332S |
probably benign |
Het |
| Usp53 |
A |
T |
3: 122,727,699 (GRCm39) |
L961* |
probably null |
Het |
| Vmn1r223 |
A |
T |
13: 23,433,837 (GRCm39) |
T144S |
possibly damaging |
Het |
| Wdfy1 |
G |
A |
1: 79,683,972 (GRCm39) |
R388C |
probably damaging |
Het |
| Zfp995 |
T |
A |
17: 22,106,321 (GRCm39) |
M1L |
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 |
|
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'- ATGGGATTGCTATGAACTGAGGTGC -3'
(R):5'- GGGTAAAGCCATCGCTCTGTGAAG -3'
Sequencing Primer
(F):5'- GCCTGCCTGAGGGAGAC -3'
(R):5'- ATCGCTCTGTGAAGACCTTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation