Incidental Mutation 'IGL03111:Lipo3'
| ID |
419181 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lipo3
|
| Ensembl Gene |
ENSMUSG00000024766 |
| Gene Name |
lipase, member O3 |
| Synonyms |
Lipo1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL03111
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
33532560-33568069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 33559637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 78
(V78I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025694]
[ENSMUST00000112508]
|
| AlphaFold |
Q3UT41 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025694
AA Change: V78I
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000025694
Gene: ENSMUSG00000024766
AA Change: V78I
| 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 damaging
Transcript: ENSMUST00000112508
AA Change: V78I
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108127
Gene: ENSMUSG00000024766
AA Change: V78I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydro_lipase
|
33 |
95 |
8.8e-24 |
PFAM |
|
Pfam:Abhydrolase_5
|
76 |
370 |
5.2e-12 |
PFAM |
|
Pfam:Abhydrolase_6
|
77 |
384 |
8.5e-10 |
PFAM |
|
Pfam:Abhydrolase_1
|
109 |
384 |
2e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133269
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aftph |
T |
C |
11: 20,676,040 (GRCm39) |
D523G |
probably benign |
Het |
| Alkbh1 |
A |
C |
12: 87,480,907 (GRCm39) |
H176Q |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Arid4a |
G |
A |
12: 71,086,740 (GRCm39) |
A193T |
probably damaging |
Het |
| Cdkal1 |
A |
G |
13: 29,538,684 (GRCm39) |
S492P |
possibly damaging |
Het |
| Cep170b |
C |
T |
12: 112,701,613 (GRCm39) |
T164I |
probably damaging |
Het |
| Chst1 |
T |
C |
2: 92,443,692 (GRCm39) |
Y55H |
possibly damaging |
Het |
| Clybl |
C |
T |
14: 122,639,395 (GRCm39) |
P320S |
probably damaging |
Het |
| Cpne9 |
T |
C |
6: 113,277,571 (GRCm39) |
I430T |
possibly damaging |
Het |
| Cyc1 |
T |
G |
15: 76,229,072 (GRCm39) |
S113A |
probably benign |
Het |
| Cyp4b1 |
C |
T |
4: 115,493,066 (GRCm39) |
|
probably benign |
Het |
| Dpysl3 |
T |
C |
18: 43,462,910 (GRCm39) |
D489G |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,473,809 (GRCm39) |
D15G |
probably damaging |
Het |
| Ephb4 |
C |
A |
5: 137,370,767 (GRCm39) |
F933L |
probably benign |
Het |
| Fan1 |
A |
T |
7: 63,999,816 (GRCm39) |
D856E |
possibly damaging |
Het |
| Gabra6 |
T |
A |
11: 42,207,844 (GRCm39) |
D208V |
probably damaging |
Het |
| Kif3b |
T |
A |
2: 153,171,988 (GRCm39) |
S719R |
probably benign |
Het |
| Ldhd |
A |
C |
8: 112,353,797 (GRCm39) |
C439G |
probably damaging |
Het |
| Mterf2 |
A |
T |
10: 84,955,786 (GRCm39) |
Y279* |
probably null |
Het |
| Myo9a |
G |
T |
9: 59,734,526 (GRCm39) |
A703S |
probably benign |
Het |
| Ndst3 |
T |
A |
3: 123,465,745 (GRCm39) |
T76S |
possibly damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,330,816 (GRCm39) |
L859Q |
probably damaging |
Het |
| Nlrp4g |
T |
A |
9: 124,353,978 (GRCm38) |
|
noncoding transcript |
Het |
| Or1s2 |
T |
A |
19: 13,758,343 (GRCm39) |
Y122* |
probably null |
Het |
| Or51g2 |
G |
A |
7: 102,622,738 (GRCm39) |
R154C |
probably damaging |
Het |
| Or6c215 |
G |
A |
10: 129,637,947 (GRCm39) |
T149I |
probably benign |
Het |
| Osgin1 |
A |
T |
8: 120,169,788 (GRCm39) |
K113M |
probably damaging |
Het |
| Plcb4 |
T |
A |
2: 135,818,202 (GRCm39) |
Y823N |
probably damaging |
Het |
| Prg4 |
T |
C |
1: 150,327,653 (GRCm39) |
I856V |
probably benign |
Het |
| Pxdn |
T |
A |
12: 30,032,755 (GRCm39) |
S180T |
probably damaging |
Het |
| Skint9 |
T |
A |
4: 112,248,921 (GRCm39) |
N169I |
probably benign |
Het |
| Slc24a1 |
T |
C |
9: 64,833,608 (GRCm39) |
T996A |
probably damaging |
Het |
| Tbc1d20 |
T |
C |
2: 152,149,998 (GRCm39) |
Y91H |
probably damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,049,369 (GRCm39) |
Y772C |
probably damaging |
Het |
| Thbd |
T |
A |
2: 148,248,392 (GRCm39) |
E492V |
probably benign |
Het |
| Thra |
A |
G |
11: 98,651,855 (GRCm39) |
|
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,867,225 (GRCm39) |
S403P |
probably damaging |
Het |
| Zfp455 |
T |
C |
13: 67,356,063 (GRCm39) |
S444P |
probably benign |
Het |
| Zfp946 |
A |
G |
17: 22,673,537 (GRCm39) |
H97R |
possibly damaging |
Het |
|
| Other mutations in Lipo3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01521:Lipo3
|
APN |
19 |
33,763,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01697:Lipo3
|
APN |
19 |
33,536,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01916:Lipo3
|
APN |
19 |
33,762,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02027:Lipo3
|
APN |
19 |
33,557,919 (GRCm39) |
nonsense |
probably null |
|
|
IGL02047:Lipo3
|
APN |
19 |
33,534,562 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02586:Lipo3
|
APN |
19 |
33,559,539 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03005:Lipo3
|
APN |
19 |
33,763,136 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03404:Lipo3
|
APN |
19 |
33,560,440 (GRCm39) |
splice site |
probably benign |
|
|
R0122:Lipo3
|
UTSW |
19 |
33,600,086 (GRCm39) |
intron |
probably benign |
|
|
R0128:Lipo3
|
UTSW |
19 |
33,534,506 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0540:Lipo3
|
UTSW |
19 |
33,536,967 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0551:Lipo3
|
UTSW |
19 |
33,557,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0568:Lipo3
|
UTSW |
19 |
33,559,442 (GRCm39) |
splice site |
probably benign |
|
|
R0646:Lipo3
|
UTSW |
19 |
33,762,169 (GRCm39) |
nonsense |
probably null |
|
|
R0669:Lipo3
|
UTSW |
19 |
33,537,025 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1704:Lipo3
|
UTSW |
19 |
33,757,743 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1772:Lipo3
|
UTSW |
19 |
33,764,821 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1862:Lipo3
|
UTSW |
19 |
33,762,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1863:Lipo3
|
UTSW |
19 |
33,762,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2911:Lipo3
|
UTSW |
19 |
33,556,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3801:Lipo3
|
UTSW |
19 |
33,762,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3802:Lipo3
|
UTSW |
19 |
33,762,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3803:Lipo3
|
UTSW |
19 |
33,762,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3973:Lipo3
|
UTSW |
19 |
33,535,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4020:Lipo3
|
UTSW |
19 |
33,764,804 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4648:Lipo3
|
UTSW |
19 |
33,760,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4660:Lipo3
|
UTSW |
19 |
33,598,360 (GRCm39) |
intron |
probably benign |
|
|
R4775:Lipo3
|
UTSW |
19 |
33,757,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4787:Lipo3
|
UTSW |
19 |
33,757,749 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4820:Lipo3
|
UTSW |
19 |
33,560,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4830:Lipo3
|
UTSW |
19 |
33,753,987 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4951:Lipo3
|
UTSW |
19 |
33,759,621 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5117:Lipo3
|
UTSW |
19 |
33,536,952 (GRCm39) |
missense |
probably benign |
|
|
R5258:Lipo3
|
UTSW |
19 |
33,591,243 (GRCm39) |
intron |
probably benign |
|
|
R5799:Lipo3
|
UTSW |
19 |
33,755,093 (GRCm39) |
intron |
probably benign |
|
|
R5853:Lipo3
|
UTSW |
19 |
33,759,630 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6235:Lipo3
|
UTSW |
19 |
33,760,963 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6296:Lipo3
|
UTSW |
19 |
33,757,737 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6383:Lipo3
|
UTSW |
19 |
33,533,831 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6659:Lipo3
|
UTSW |
19 |
33,533,828 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6913:Lipo3
|
UTSW |
19 |
33,757,705 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6915:Lipo3
|
UTSW |
19 |
33,562,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:Lipo3
|
UTSW |
19 |
33,591,092 (GRCm39) |
splice site |
probably null |
|
|
R7444:Lipo3
|
UTSW |
19 |
33,535,663 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7532:Lipo3
|
UTSW |
19 |
33,560,464 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7672:Lipo3
|
UTSW |
19 |
33,757,785 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7796:Lipo3
|
UTSW |
19 |
33,759,634 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7945:Lipo3
|
UTSW |
19 |
33,533,831 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8683:Lipo3
|
UTSW |
19 |
33,759,604 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8936:Lipo3
|
UTSW |
19 |
33,557,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9062:Lipo3
|
UTSW |
19 |
33,757,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9086:Lipo3
|
UTSW |
19 |
33,534,529 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9432:Lipo3
|
UTSW |
19 |
33,533,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9615:Lipo3
|
UTSW |
19 |
33,754,047 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9620:Lipo3
|
UTSW |
19 |
33,559,629 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Lipo3
|
UTSW |
19 |
33,562,328 (GRCm39) |
missense |
probably null |
0.97 |
|
| Posted On |
2016-08-02 |
Incidental Mutation