Incidental Mutation 'IGL01462:Aspg'
| ID |
88033 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aspg
|
| Ensembl Gene |
ENSMUSG00000037686 |
| Gene Name |
asparaginase |
| Synonyms |
A530050D06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
IGL01462
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
112073113-112093993 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112089387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 392
(T392A)
|
| 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: T392A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000078369
Gene: ENSMUSG00000037686
AA Change: T392A
| 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: T80A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223184
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
C |
A |
6: 92,871,247 (GRCm39) |
A30S |
probably benign |
Het |
| Atp8b5 |
C |
A |
4: 43,368,010 (GRCm39) |
Q878K |
possibly damaging |
Het |
| Ccdc85a |
G |
T |
11: 28,526,506 (GRCm39) |
H339Q |
probably damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Cog4 |
C |
T |
8: 111,592,717 (GRCm39) |
T430M |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,823,274 (GRCm39) |
Y28H |
unknown |
Het |
| Cth |
A |
T |
3: 157,610,804 (GRCm39) |
Y343N |
probably damaging |
Het |
| Dctn3 |
A |
T |
4: 41,719,854 (GRCm39) |
L84* |
probably null |
Het |
| Epha5 |
A |
T |
5: 84,219,092 (GRCm39) |
I868N |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,498,681 (GRCm39) |
N133D |
possibly damaging |
Het |
| Epor |
G |
A |
9: 21,870,752 (GRCm39) |
P376L |
probably damaging |
Het |
| Gsdme |
A |
G |
6: 50,204,354 (GRCm39) |
V201A |
possibly damaging |
Het |
| Hdgf |
G |
A |
3: 87,821,831 (GRCm39) |
E149K |
possibly damaging |
Het |
| Lrrfip2 |
T |
C |
9: 111,034,917 (GRCm39) |
|
probably null |
Het |
| Ly6g6d |
T |
C |
17: 35,293,226 (GRCm39) |
I40V |
probably benign |
Het |
| Mlh3 |
G |
A |
12: 85,313,510 (GRCm39) |
T892I |
probably benign |
Het |
| Mmp19 |
C |
T |
10: 128,634,011 (GRCm39) |
T304I |
probably damaging |
Het |
| Mmp28 |
T |
C |
11: 83,334,602 (GRCm39) |
D384G |
possibly damaging |
Het |
| Moxd1 |
T |
C |
10: 24,120,286 (GRCm39) |
|
probably null |
Het |
| Mtcl3 |
T |
G |
10: 29,024,254 (GRCm39) |
L390R |
probably damaging |
Het |
| Ncapg |
T |
C |
5: 45,828,477 (GRCm39) |
V76A |
probably benign |
Het |
| Nos1 |
C |
T |
5: 118,005,774 (GRCm39) |
R165C |
probably benign |
Het |
| Or1e1c |
T |
C |
11: 73,265,578 (GRCm39) |
M1T |
probably null |
Het |
| Or2a57 |
A |
G |
6: 43,212,559 (GRCm39) |
T6A |
possibly damaging |
Het |
| Pik3c2a |
T |
A |
7: 115,975,485 (GRCm39) |
H694L |
possibly damaging |
Het |
| Psme2 |
A |
G |
14: 55,827,128 (GRCm39) |
L60P |
probably damaging |
Het |
| Ptpn23 |
A |
G |
9: 110,237,175 (GRCm39) |
V4A |
probably benign |
Het |
| Rgr |
G |
T |
14: 36,766,566 (GRCm39) |
T160K |
probably damaging |
Het |
| Serpind1 |
A |
G |
16: 17,154,787 (GRCm39) |
I205V |
probably benign |
Het |
| Skap2 |
T |
C |
6: 51,898,280 (GRCm39) |
Y150C |
probably damaging |
Het |
| Srsf9 |
T |
C |
5: 115,470,187 (GRCm39) |
S122P |
probably damaging |
Het |
| Stox1 |
T |
G |
10: 62,500,461 (GRCm39) |
I700L |
probably benign |
Het |
| Tada1 |
A |
G |
1: 166,216,294 (GRCm39) |
D165G |
probably damaging |
Het |
| Traf5 |
A |
G |
1: 191,731,828 (GRCm39) |
S338P |
probably benign |
Het |
| Trim39 |
G |
A |
17: 36,574,617 (GRCm39) |
|
probably benign |
Het |
| Wbp2 |
G |
A |
11: 115,972,066 (GRCm39) |
A130V |
possibly damaging |
Het |
| Zcchc17 |
T |
C |
4: 130,230,902 (GRCm39) |
K96E |
probably benign |
Het |
| Zfp800 |
G |
A |
6: 28,242,983 (GRCm39) |
L661F |
possibly damaging |
Het |
|
| Other mutations in Aspg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-11-18 |
Incidental Mutation