Incidental Mutation 'IGL02291:Lipo2'
ID |
290327 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lipo2
|
Ensembl Gene |
ENSMUSG00000087303 |
Gene Name |
lipase, member O2 |
Synonyms |
Gm8981 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
IGL02291
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
33697070-33728759 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 33723192 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 199
(I199T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118907
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025694]
[ENSMUST00000147153]
|
AlphaFold |
D3YY49 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025694
|
SMART Domains |
Protein: ENSMUSP00000025694 Gene: ENSMUSG00000024766
Domain | Start | End | E-Value | Type |
Pfam:Abhydro_lipase
|
33 |
95 |
4.2e-24 |
PFAM |
Pfam:Abhydrolase_1
|
76 |
213 |
7.3e-16 |
PFAM |
Pfam:Abhydrolase_5
|
76 |
370 |
4.8e-12 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147153
AA Change: I199T
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118907 Gene: ENSMUSG00000087303 AA Change: I199T
Domain | Start | End | E-Value | Type |
Pfam:Abhydro_lipase
|
33 |
95 |
4.4e-24 |
PFAM |
Pfam:Abhydrolase_1
|
76 |
213 |
1.7e-15 |
PFAM |
Pfam:Abhydrolase_5
|
76 |
370 |
1.5e-11 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap10 |
T |
A |
8: 78,109,344 (GRCm39) |
|
probably benign |
Het |
Cfap161 |
C |
T |
7: 83,440,847 (GRCm39) |
G135D |
probably benign |
Het |
Cpne1 |
A |
G |
2: 155,920,340 (GRCm39) |
V179A |
probably damaging |
Het |
Cpsf1 |
A |
T |
15: 76,487,021 (GRCm39) |
I219N |
probably damaging |
Het |
Creb3l4 |
T |
G |
3: 90,149,290 (GRCm39) |
R139S |
probably benign |
Het |
Fer1l4 |
T |
C |
2: 155,861,458 (GRCm39) |
K1929E |
probably damaging |
Het |
Gm5431 |
A |
G |
11: 48,779,791 (GRCm39) |
L655P |
probably damaging |
Het |
Igsf3 |
T |
G |
3: 101,346,845 (GRCm39) |
H613Q |
probably damaging |
Het |
Kcnab1 |
T |
C |
3: 65,264,503 (GRCm39) |
Y251H |
possibly damaging |
Het |
Kmt2d |
T |
C |
15: 98,763,373 (GRCm39) |
|
probably benign |
Het |
Krt17 |
A |
T |
11: 100,147,319 (GRCm39) |
V404E |
probably benign |
Het |
Mks1 |
T |
A |
11: 87,750,493 (GRCm39) |
|
probably benign |
Het |
Nlrp1a |
A |
T |
11: 71,013,415 (GRCm39) |
|
probably null |
Het |
Nup210 |
T |
C |
6: 91,078,250 (GRCm39) |
D100G |
probably damaging |
Het |
Or13a21 |
A |
T |
7: 139,999,200 (GRCm39) |
L162Q |
probably damaging |
Het |
Or1o11 |
G |
A |
17: 37,757,176 (GRCm39) |
V255I |
possibly damaging |
Het |
Or2y1g |
T |
A |
11: 49,171,812 (GRCm39) |
I279N |
probably damaging |
Het |
Or7h8 |
T |
C |
9: 20,124,098 (GRCm39) |
I151T |
probably benign |
Het |
Psmd5 |
A |
G |
2: 34,747,811 (GRCm39) |
V282A |
probably benign |
Het |
Rasal3 |
A |
T |
17: 32,612,711 (GRCm39) |
|
probably benign |
Het |
Rnf10 |
T |
C |
5: 115,398,255 (GRCm39) |
N93D |
probably damaging |
Het |
Semp2l2a |
T |
A |
8: 13,887,704 (GRCm39) |
N129I |
probably benign |
Het |
Slc7a9 |
G |
A |
7: 35,156,439 (GRCm39) |
G294R |
probably damaging |
Het |
Taf7 |
C |
T |
18: 37,776,415 (GRCm39) |
G51R |
possibly damaging |
Het |
Tas2r126 |
G |
A |
6: 42,412,221 (GRCm39) |
M251I |
probably benign |
Het |
Trim33 |
T |
C |
3: 103,234,181 (GRCm39) |
F473S |
probably damaging |
Het |
Vmn1r127 |
A |
G |
7: 21,052,999 (GRCm39) |
L263P |
possibly damaging |
Het |
Vmn1r234 |
G |
A |
17: 21,449,193 (GRCm39) |
V36I |
probably benign |
Het |
Vmn2r84 |
T |
A |
10: 130,226,617 (GRCm39) |
H407L |
probably damaging |
Het |
|
Other mutations in Lipo2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01564:Lipo2
|
APN |
19 |
33,698,424 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01780:Lipo2
|
APN |
19 |
33,708,348 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL01868:Lipo2
|
APN |
19 |
33,708,238 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02350:Lipo2
|
APN |
19 |
33,708,348 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02357:Lipo2
|
APN |
19 |
33,708,348 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02560:Lipo2
|
APN |
19 |
33,708,348 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL03354:Lipo2
|
APN |
19 |
33,708,270 (GRCm39) |
missense |
probably benign |
0.09 |
R0183:Lipo2
|
UTSW |
19 |
33,726,951 (GRCm39) |
splice site |
probably null |
|
R0529:Lipo2
|
UTSW |
19 |
33,724,335 (GRCm39) |
missense |
probably benign |
0.05 |
R0576:Lipo2
|
UTSW |
19 |
33,726,824 (GRCm39) |
missense |
probably benign |
0.02 |
R0579:Lipo2
|
UTSW |
19 |
33,724,298 (GRCm39) |
missense |
probably damaging |
0.99 |
R0594:Lipo2
|
UTSW |
19 |
33,724,302 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0621:Lipo2
|
UTSW |
19 |
33,708,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R1019:Lipo2
|
UTSW |
19 |
33,708,257 (GRCm39) |
nonsense |
probably null |
|
R2190:Lipo2
|
UTSW |
19 |
33,725,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R2413:Lipo2
|
UTSW |
19 |
33,728,657 (GRCm39) |
missense |
probably damaging |
0.98 |
R4066:Lipo2
|
UTSW |
19 |
33,698,259 (GRCm39) |
missense |
probably benign |
0.01 |
R4258:Lipo2
|
UTSW |
19 |
33,708,328 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4365:Lipo2
|
UTSW |
19 |
33,699,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R4491:Lipo2
|
UTSW |
19 |
33,699,100 (GRCm39) |
missense |
probably damaging |
0.99 |
R4640:Lipo2
|
UTSW |
19 |
33,698,237 (GRCm39) |
missense |
probably benign |
0.04 |
R4822:Lipo2
|
UTSW |
19 |
33,723,151 (GRCm39) |
missense |
probably benign |
0.01 |
R4872:Lipo2
|
UTSW |
19 |
33,726,914 (GRCm39) |
missense |
probably benign |
0.00 |
R5004:Lipo2
|
UTSW |
19 |
33,699,076 (GRCm39) |
critical splice donor site |
probably null |
|
R5112:Lipo2
|
UTSW |
19 |
33,725,865 (GRCm39) |
missense |
probably benign |
0.00 |
R5440:Lipo2
|
UTSW |
19 |
33,698,258 (GRCm39) |
missense |
probably benign |
0.39 |
R5737:Lipo2
|
UTSW |
19 |
33,699,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R6209:Lipo2
|
UTSW |
19 |
33,726,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R6868:Lipo2
|
UTSW |
19 |
33,725,862 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6893:Lipo2
|
UTSW |
19 |
33,698,407 (GRCm39) |
nonsense |
probably null |
|
R7176:Lipo2
|
UTSW |
19 |
33,723,207 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7853:Lipo2
|
UTSW |
19 |
33,737,344 (GRCm39) |
start gained |
probably benign |
|
R8092:Lipo2
|
UTSW |
19 |
33,726,880 (GRCm39) |
missense |
probably benign |
0.00 |
R8101:Lipo2
|
UTSW |
19 |
33,698,394 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8464:Lipo2
|
UTSW |
19 |
33,726,023 (GRCm39) |
missense |
probably benign |
0.02 |
R8958:Lipo2
|
UTSW |
19 |
33,698,361 (GRCm39) |
nonsense |
probably null |
|
R8968:Lipo2
|
UTSW |
19 |
33,726,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R9752:Lipo2
|
UTSW |
19 |
33,723,221 (GRCm39) |
missense |
possibly damaging |
0.78 |
X0052:Lipo2
|
UTSW |
19 |
33,698,345 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Lipo2
|
UTSW |
19 |
33,699,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |