Incidental Mutation 'R3931:Lipo4'
| ID |
308484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lipo4
|
| Ensembl Gene |
ENSMUSG00000079344 |
| Gene Name |
lipase, member O4 |
| Synonyms |
Gm6857 |
| MMRRC Submission |
040918-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R3931 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
33476449-33495170 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 33480619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 250
(V250I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112511]
|
| AlphaFold |
F6RR30 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112511
AA Change: V250I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108130
Gene: ENSMUSG00000079344
AA Change: V250I
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
A |
C |
6: 92,811,420 (GRCm39) |
|
probably benign |
Het |
| Cbarp |
A |
G |
10: 79,971,348 (GRCm39) |
L159P |
probably damaging |
Het |
| Ccnd2 |
A |
G |
6: 127,107,422 (GRCm39) |
I249T |
probably damaging |
Het |
| Cerk |
G |
T |
15: 86,039,311 (GRCm39) |
C193* |
probably null |
Het |
| Chrna2 |
A |
G |
14: 66,387,216 (GRCm39) |
E454G |
probably benign |
Het |
| Clnk |
T |
C |
5: 38,925,412 (GRCm39) |
T130A |
probably benign |
Het |
| Dcbld2 |
T |
C |
16: 58,285,701 (GRCm39) |
L620P |
probably damaging |
Het |
| Dhx29 |
T |
A |
13: 113,095,499 (GRCm39) |
V942E |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Dnai1 |
G |
A |
4: 41,604,229 (GRCm39) |
C212Y |
probably damaging |
Het |
| Dpep1 |
A |
G |
8: 123,925,518 (GRCm39) |
D57G |
possibly damaging |
Het |
| Gfm2 |
G |
A |
13: 97,311,532 (GRCm39) |
V701I |
probably benign |
Het |
| Grm1 |
C |
T |
10: 10,595,622 (GRCm39) |
A669T |
probably benign |
Het |
| Hsd3b3 |
C |
T |
3: 98,649,492 (GRCm39) |
G277D |
probably damaging |
Het |
| Hsf5 |
A |
G |
11: 87,522,508 (GRCm39) |
Y367C |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lrrc14 |
T |
C |
15: 76,597,765 (GRCm39) |
V165A |
probably benign |
Het |
| Map3k9 |
A |
G |
12: 81,819,691 (GRCm39) |
F188L |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,691,866 (GRCm39) |
Y433C |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,003,461 (GRCm39) |
K185E |
probably benign |
Het |
| Or6n2 |
T |
A |
1: 173,897,147 (GRCm39) |
F94L |
probably damaging |
Het |
| Oxct1 |
T |
A |
15: 4,066,601 (GRCm39) |
N72K |
possibly damaging |
Het |
| Ptpn12 |
A |
G |
5: 21,206,321 (GRCm39) |
I324T |
probably benign |
Het |
| Sez6 |
T |
C |
11: 77,867,708 (GRCm39) |
I875T |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,311,655 (GRCm39) |
V1811E |
probably damaging |
Het |
| Trpc4 |
A |
G |
3: 54,225,516 (GRCm39) |
D871G |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 6,051,821 (GRCm39) |
E1161G |
unknown |
Het |
| Zp2 |
T |
C |
7: 119,731,580 (GRCm39) |
|
probably benign |
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 |
|
R1155:Lipo4
|
UTSW |
19 |
33,480,595 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
PCR Primer
(F):5'- AATTGCATGCAGGACACACC -3'
(R):5'- CAGCAGCACATAGTAGTTTTGTC -3'
Sequencing Primer
(F):5'- AGTTAGCAGATACAGTTGCTCTC -3'
(R):5'- CAGCACATAGTAGTTTTGTCTTTTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation