Incidental Mutation 'IGL01564:Lipo2'
| ID |
90925 |
| 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 # |
IGL01564
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
33697070-33728759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33698424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 318
(T318A)
|
| 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 |
probably benign
Transcript: ENSMUST00000147153
AA Change: T318A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000118907
Gene: ENSMUSG00000087303
AA Change: T318A
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat3 |
T |
A |
10: 80,442,693 (GRCm39) |
M177K |
probably damaging |
Het |
| Ankrd28 |
G |
T |
14: 31,477,724 (GRCm39) |
T48K |
probably damaging |
Het |
| Capn3 |
T |
C |
2: 120,311,189 (GRCm39) |
I112T |
probably damaging |
Het |
| Clec3a |
T |
A |
8: 115,152,282 (GRCm39) |
I96N |
probably damaging |
Het |
| Clic4 |
C |
T |
4: 134,944,504 (GRCm39) |
A224T |
probably damaging |
Het |
| Eif2b3 |
T |
C |
4: 116,885,739 (GRCm39) |
Y94H |
probably benign |
Het |
| Ep300 |
A |
T |
15: 81,516,665 (GRCm39) |
|
probably benign |
Het |
| Errfi1 |
C |
A |
4: 150,951,487 (GRCm39) |
T305N |
probably damaging |
Het |
| Fam131c |
T |
A |
4: 141,106,984 (GRCm39) |
|
probably null |
Het |
| Fbxo11 |
G |
A |
17: 88,310,324 (GRCm39) |
T494I |
probably benign |
Het |
| Homer2 |
T |
C |
7: 81,268,320 (GRCm39) |
|
probably null |
Het |
| Hpf1 |
C |
A |
8: 61,343,513 (GRCm39) |
|
probably benign |
Het |
| Hspa1b |
T |
C |
17: 35,176,525 (GRCm39) |
N487D |
probably benign |
Het |
| Ikbke |
C |
A |
1: 131,185,658 (GRCm39) |
A617S |
probably benign |
Het |
| Jade1 |
G |
T |
3: 41,551,084 (GRCm39) |
R174S |
possibly damaging |
Het |
| Lcmt1 |
T |
C |
7: 123,003,663 (GRCm39) |
F139S |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,567,498 (GRCm39) |
|
probably benign |
Het |
| Lsm14a |
T |
C |
7: 34,088,780 (GRCm39) |
|
probably benign |
Het |
| Mpp2 |
T |
C |
11: 101,952,345 (GRCm39) |
D393G |
probably benign |
Het |
| Nfyb |
T |
C |
10: 82,588,260 (GRCm39) |
Y137C |
probably damaging |
Het |
| Or10g1 |
T |
C |
14: 52,648,299 (GRCm39) |
D10G |
probably benign |
Het |
| Or5d35 |
A |
T |
2: 87,855,648 (GRCm39) |
H194L |
probably benign |
Het |
| Or5p55 |
T |
C |
7: 107,567,198 (GRCm39) |
I198T |
probably benign |
Het |
| Scn3a |
A |
C |
2: 65,291,790 (GRCm39) |
I1652S |
probably damaging |
Het |
| Slc33a1 |
C |
T |
3: 63,850,768 (GRCm39) |
V519I |
probably benign |
Het |
| Strada |
G |
T |
11: 106,064,118 (GRCm39) |
N66K |
probably damaging |
Het |
| Thoc2l |
A |
T |
5: 104,668,529 (GRCm39) |
Y1017F |
probably benign |
Het |
| Tlr1 |
T |
A |
5: 65,083,189 (GRCm39) |
I463F |
probably damaging |
Het |
| Tnfrsf19 |
G |
T |
14: 61,212,058 (GRCm39) |
F197L |
possibly damaging |
Het |
| Tph1 |
T |
A |
7: 46,300,305 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,646,922 (GRCm39) |
L3287H |
probably damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,633 (GRCm39) |
S164T |
possibly damaging |
Het |
| Zan |
C |
T |
5: 137,444,995 (GRCm39) |
V1755I |
unknown |
Het |
| Zmym4 |
T |
C |
4: 126,805,073 (GRCm39) |
I396V |
possibly damaging |
Het |
|
| Other mutations in Lipo2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02291:Lipo2
|
APN |
19 |
33,723,192 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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 |
2013-12-09 |
Incidental Mutation