Incidental Mutation 'R1155:Lipo4'
| ID |
101698 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lipo4
|
| Ensembl Gene |
ENSMUSG00000079344 |
| Gene Name |
lipase, member O4 |
| Synonyms |
Gm6857 |
| MMRRC Submission |
039228-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R1155 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
33476449-33495170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33480595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 258
(I258F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112511]
|
| AlphaFold |
F6RR30 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112511
AA Change: I258F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108130
Gene: ENSMUSG00000079344
AA Change: I258F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Abhydro_lipase
|
35 |
97 |
3e-24 |
PFAM |
|
Pfam:Hydrolase_4
|
74 |
239 |
4.7e-8 |
PFAM |
|
Pfam:Abhydrolase_1
|
78 |
214 |
2.5e-16 |
PFAM |
|
Pfam:Abhydrolase_5
|
78 |
372 |
1.1e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143522
|
| SMART Domains |
Protein: ENSMUSP00000121321
Gene: ENSMUSG00000079344
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Abhydro_lipase
|
37 |
99 |
1.3e-24 |
PFAM |
|
Pfam:Hydrolase_4
|
76 |
241 |
7.1e-9 |
PFAM |
|
Pfam:Abhydrolase_1
|
80 |
214 |
8.8e-17 |
PFAM |
|
Pfam:Abhydrolase_5
|
80 |
235 |
1.5e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
C |
11: 23,467,270 (GRCm39) |
E121G |
possibly damaging |
Het |
| Abtb3 |
A |
T |
10: 85,465,155 (GRCm39) |
H665L |
probably damaging |
Het |
| Adgrg1 |
G |
A |
8: 95,733,468 (GRCm39) |
V307I |
possibly damaging |
Het |
| Cilp |
A |
G |
9: 65,176,869 (GRCm39) |
T42A |
probably benign |
Het |
| Col6a3 |
T |
A |
1: 90,722,047 (GRCm39) |
K1493M |
probably null |
Het |
| Col6a6 |
A |
G |
9: 105,659,289 (GRCm39) |
V552A |
possibly damaging |
Het |
| Cradd |
T |
C |
10: 95,158,586 (GRCm39) |
T54A |
probably benign |
Het |
| Elfn2 |
A |
G |
15: 78,557,344 (GRCm39) |
I401T |
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Hoxc6 |
A |
G |
15: 102,919,279 (GRCm39) |
I172V |
probably damaging |
Het |
| Knl1 |
T |
C |
2: 118,901,635 (GRCm39) |
L1112P |
possibly damaging |
Het |
| Morf4l1 |
A |
G |
9: 89,976,557 (GRCm39) |
V257A |
probably benign |
Het |
| Or51a8 |
A |
T |
7: 102,549,819 (GRCm39) |
M82L |
probably benign |
Het |
| Rnpepl1 |
T |
A |
1: 92,844,609 (GRCm39) |
M367K |
probably damaging |
Het |
| Robo2 |
A |
G |
16: 73,831,996 (GRCm39) |
L228P |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,376,939 (GRCm39) |
E107D |
probably benign |
Het |
| Shc1 |
A |
G |
3: 89,332,126 (GRCm39) |
I194V |
probably benign |
Het |
| Slc25a46 |
A |
G |
18: 31,716,668 (GRCm39) |
I278T |
probably benign |
Het |
| Tmem178 |
T |
A |
17: 81,308,429 (GRCm39) |
C275S |
possibly damaging |
Het |
| Tpsg1 |
A |
T |
17: 25,592,768 (GRCm39) |
Q40L |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,196,038 (GRCm39) |
E1354G |
possibly damaging |
Het |
| Vit |
T |
C |
17: 78,873,456 (GRCm39) |
I44T |
probably damaging |
Het |
| Vstm5 |
T |
C |
9: 15,168,849 (GRCm39) |
S138P |
probably damaging |
Het |
|
| Other mutations in Lipo4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00536:Lipo4
|
APN |
19 |
33,493,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01609:Lipo4
|
APN |
19 |
33,476,654 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01731:Lipo4
|
APN |
19 |
33,490,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0134:Lipo4
|
UTSW |
19 |
33,479,006 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0225:Lipo4
|
UTSW |
19 |
33,479,006 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1381:Lipo4
|
UTSW |
19 |
33,476,741 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1460:Lipo4
|
UTSW |
19 |
33,476,718 (GRCm39) |
missense |
probably benign |
|
|
R1607:Lipo4
|
UTSW |
19 |
33,490,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1777:Lipo4
|
UTSW |
19 |
33,476,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1919:Lipo4
|
UTSW |
19 |
33,476,671 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1998:Lipo4
|
UTSW |
19 |
33,491,701 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2088:Lipo4
|
UTSW |
19 |
33,477,469 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2112:Lipo4
|
UTSW |
19 |
33,488,926 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3931:Lipo4
|
UTSW |
19 |
33,480,619 (GRCm39) |
missense |
probably benign |
|
|
R4588:Lipo4
|
UTSW |
19 |
33,476,647 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4869:Lipo4
|
UTSW |
19 |
33,478,953 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5406:Lipo4
|
UTSW |
19 |
33,480,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5640:Lipo4
|
UTSW |
19 |
33,478,986 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6160:Lipo4
|
UTSW |
19 |
33,480,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6957:Lipo4
|
UTSW |
19 |
33,476,767 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7403:Lipo4
|
UTSW |
19 |
33,480,679 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7816:Lipo4
|
UTSW |
19 |
33,491,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7847:Lipo4
|
UTSW |
19 |
33,491,599 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7868:Lipo4
|
UTSW |
19 |
33,488,968 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7890:Lipo4
|
UTSW |
19 |
33,478,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7975:Lipo4
|
UTSW |
19 |
33,490,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8391:Lipo4
|
UTSW |
19 |
33,488,965 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9428:Lipo4
|
UTSW |
19 |
33,495,074 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0028:Lipo4
|
UTSW |
19 |
33,480,688 (GRCm39) |
frame shift |
probably null |
|
|
Z1176:Lipo4
|
UTSW |
19 |
33,480,584 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation