Incidental Mutation 'R6659:Lipo3'
| ID |
526788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lipo3
|
| Ensembl Gene |
ENSMUSG00000024766 |
| Gene Name |
lipase, member O3 |
| Synonyms |
Lipo1 |
| MMRRC Submission |
044779-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R6659 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
33532560-33568069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33533828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 335
(F335L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025694]
[ENSMUST00000112508]
|
| AlphaFold |
Q3UT41 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025694
AA Change: F335L
PolyPhen 2
Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000025694
Gene: ENSMUSG00000024766
AA Change: F335L
| 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: ENSMUST00000112508
AA Change: F335L
PolyPhen 2
Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000108127
Gene: ENSMUSG00000024766
AA Change: F335L
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145807
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
T |
C |
16: 30,950,133 (GRCm39) |
D212G |
probably damaging |
Het |
| Add1 |
C |
T |
5: 34,770,639 (GRCm39) |
A250V |
possibly damaging |
Het |
| Atxn2 |
A |
G |
5: 121,916,027 (GRCm39) |
N411S |
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,500,395 (GRCm39) |
T788A |
probably benign |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Ddx46 |
A |
G |
13: 55,817,537 (GRCm39) |
T721A |
probably damaging |
Het |
| Eif2b1 |
G |
A |
5: 124,717,171 (GRCm39) |
|
probably benign |
Het |
| Eif4g3 |
A |
G |
4: 137,905,243 (GRCm39) |
K1241E |
probably damaging |
Het |
| Engase |
T |
A |
11: 118,372,142 (GRCm39) |
Y145N |
probably benign |
Het |
| Fbrs |
C |
A |
7: 127,087,091 (GRCm39) |
A674D |
probably damaging |
Het |
| Gm4884 |
G |
A |
7: 40,694,046 (GRCm39) |
G672R |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Iars2 |
T |
A |
1: 185,020,273 (GRCm39) |
I954F |
possibly damaging |
Het |
| Itgad |
A |
T |
7: 127,785,120 (GRCm39) |
I310F |
probably damaging |
Het |
| Kcnmb3 |
A |
G |
3: 32,526,594 (GRCm39) |
V199A |
possibly damaging |
Het |
| Kctd12 |
G |
T |
14: 103,219,622 (GRCm39) |
D85E |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,125,630 (GRCm39) |
R2929H |
probably damaging |
Het |
| Lgmn |
T |
A |
12: 102,368,951 (GRCm39) |
Y176F |
probably benign |
Het |
| Map2k3 |
T |
C |
11: 60,833,150 (GRCm39) |
S46P |
probably benign |
Het |
| Megf8 |
C |
A |
7: 25,058,159 (GRCm39) |
H2144Q |
probably benign |
Het |
| Neb |
A |
T |
2: 52,124,365 (GRCm39) |
W3694R |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,861,684 (GRCm38) |
E580G |
probably benign |
Het |
| Obscn |
G |
A |
11: 58,929,835 (GRCm39) |
P5930S |
probably damaging |
Het |
| Palld |
A |
G |
8: 61,986,477 (GRCm39) |
F621L |
probably benign |
Het |
| Pkn2 |
A |
T |
3: 142,509,348 (GRCm39) |
I732N |
probably damaging |
Het |
| Plpbp |
T |
A |
8: 27,542,307 (GRCm39) |
I214N |
possibly damaging |
Het |
| Ppp1r37 |
A |
G |
7: 19,266,048 (GRCm39) |
S573P |
probably benign |
Het |
| Prg4 |
C |
A |
1: 150,336,432 (GRCm39) |
C97F |
probably damaging |
Het |
| Prmt2 |
T |
C |
10: 76,053,208 (GRCm39) |
D269G |
possibly damaging |
Het |
| Ptbp3 |
T |
A |
4: 59,517,640 (GRCm39) |
L80F |
probably damaging |
Het |
| Reep1 |
T |
A |
6: 71,750,179 (GRCm39) |
F64I |
probably damaging |
Het |
| Srcap |
C |
A |
7: 127,141,563 (GRCm39) |
P1720Q |
probably damaging |
Het |
| Ssr1 |
A |
T |
13: 38,171,666 (GRCm39) |
F124I |
probably damaging |
Het |
| Tbx18 |
A |
G |
9: 87,589,864 (GRCm39) |
L358P |
probably damaging |
Het |
| Tfpt |
T |
C |
7: 3,623,835 (GRCm39) |
K71E |
probably benign |
Het |
| Tmem132a |
C |
A |
19: 10,837,685 (GRCm39) |
G542C |
probably damaging |
Het |
| Tmem135 |
C |
A |
7: 88,956,371 (GRCm39) |
L81F |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,956,372 (GRCm39) |
L81* |
probably null |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Washc5 |
A |
G |
15: 59,212,739 (GRCm39) |
|
probably null |
Het |
| Zfp24 |
T |
C |
18: 24,150,391 (GRCm39) |
E173G |
possibly damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,410,155 (GRCm39) |
I1814T |
probably 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 |
|
IGL03111:Lipo3
|
APN |
19 |
33,559,637 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTAAAGCTGAACATCACCTTC -3'
(R):5'- TGACCTCAGGCTTCAGAATAC -3'
Sequencing Primer
(F):5'- AAGCTGAACATCACCTTCATATTTCC -3'
(R):5'- GGGCCAAACTCAATGATTTCTATGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation