Incidental Mutation 'R4020:Lipo3'
ID |
312764 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lipo3
|
Ensembl Gene |
ENSMUSG00000024766 |
Gene Name |
lipase, member O3 |
Synonyms |
Lipo1 |
MMRRC Submission |
040954-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R4020 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
33532560-33568069 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 33764804 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 17
(I17L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136249
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178735]
|
AlphaFold |
Q3UT41 |
Predicted Effect |
unknown
Transcript: ENSMUST00000148137
AA Change: I20L
|
SMART Domains |
Protein: ENSMUSP00000118385 Gene: ENSMUSG00000079342 AA Change: I20L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:Abhydro_lipase
|
37 |
99 |
2.8e-21 |
PFAM |
Pfam:Hydrolase_4
|
76 |
239 |
4.3e-8 |
PFAM |
Pfam:Abhydrolase_1
|
80 |
219 |
2.2e-17 |
PFAM |
Pfam:Abhydrolase_5
|
80 |
233 |
8.7e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178735
AA Change: I17L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000136249 Gene: ENSMUSG00000079342 AA Change: I17L
Domain | Start | End | E-Value | Type |
Pfam:Abhydro_lipase
|
33 |
95 |
1.3e-20 |
PFAM |
Pfam:Hydrolase_4
|
72 |
231 |
3.5e-8 |
PFAM |
Pfam:Abhydrolase_5
|
76 |
370 |
3.7e-10 |
PFAM |
Pfam:Abhydrolase_1
|
76 |
376 |
6.8e-21 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (54/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy7 |
G |
C |
8: 89,035,362 (GRCm39) |
V89L |
probably benign |
Het |
Aebp2 |
T |
A |
6: 140,588,021 (GRCm39) |
S364T |
probably damaging |
Het |
Akr1b10 |
C |
T |
6: 34,369,388 (GRCm39) |
T206I |
probably benign |
Het |
Ap4e1 |
C |
T |
2: 126,903,846 (GRCm39) |
S916F |
probably benign |
Het |
Apob |
C |
T |
12: 8,044,914 (GRCm39) |
Q845* |
probably null |
Het |
Asb4 |
A |
G |
6: 5,390,803 (GRCm39) |
|
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,066,724 (GRCm39) |
|
probably benign |
Het |
C1ra |
A |
T |
6: 124,496,736 (GRCm39) |
T391S |
probably benign |
Het |
Catsperg2 |
C |
A |
7: 29,416,429 (GRCm39) |
D328Y |
probably damaging |
Het |
Ciapin1 |
G |
T |
8: 95,555,814 (GRCm39) |
L119M |
probably damaging |
Het |
Crhr2 |
A |
G |
6: 55,077,765 (GRCm39) |
|
probably benign |
Het |
Cyp2j6 |
A |
G |
4: 96,406,407 (GRCm39) |
S455P |
probably benign |
Het |
Dctn4 |
G |
A |
18: 60,671,329 (GRCm39) |
|
probably benign |
Het |
Defa25 |
C |
T |
8: 21,575,245 (GRCm39) |
R75C |
probably benign |
Het |
Dnajc10 |
T |
C |
2: 80,175,296 (GRCm39) |
L561P |
probably damaging |
Het |
Dnajc7 |
A |
T |
11: 100,482,292 (GRCm39) |
F185L |
probably damaging |
Het |
Dock9 |
T |
C |
14: 121,844,267 (GRCm39) |
I1175V |
probably benign |
Het |
Drosha |
T |
G |
15: 12,837,422 (GRCm39) |
L302R |
possibly damaging |
Het |
Efcab5 |
C |
T |
11: 76,994,930 (GRCm39) |
V1214I |
probably benign |
Het |
Erich3 |
G |
A |
3: 154,419,686 (GRCm39) |
R260H |
probably damaging |
Het |
Fam168b |
T |
C |
1: 34,867,860 (GRCm39) |
T47A |
possibly damaging |
Het |
Gorasp1 |
G |
A |
9: 119,757,936 (GRCm39) |
R290C |
probably benign |
Het |
Gtf2a1 |
A |
G |
12: 91,539,351 (GRCm39) |
S94P |
possibly damaging |
Het |
Ighv1-53 |
C |
T |
12: 115,122,442 (GRCm39) |
C5Y |
probably benign |
Het |
Impdh1 |
T |
C |
6: 29,202,693 (GRCm39) |
I446V |
probably benign |
Het |
Krtap5-1 |
T |
C |
7: 141,850,094 (GRCm39) |
|
probably null |
Het |
Lrrc37 |
A |
G |
11: 103,506,119 (GRCm39) |
S1950P |
probably benign |
Het |
Lss |
T |
C |
10: 76,383,278 (GRCm39) |
M526T |
probably damaging |
Het |
Med12l |
A |
C |
3: 59,155,363 (GRCm39) |
Q1181P |
probably damaging |
Het |
Mtrf1l |
T |
C |
10: 5,767,454 (GRCm39) |
T221A |
probably benign |
Het |
Muc21 |
T |
C |
17: 35,930,953 (GRCm39) |
|
probably benign |
Het |
Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
Naip5 |
T |
C |
13: 100,359,883 (GRCm39) |
E451G |
probably benign |
Het |
Naip5 |
T |
C |
13: 100,359,902 (GRCm39) |
I445V |
probably benign |
Het |
Nfrkb |
T |
A |
9: 31,325,407 (GRCm39) |
L950Q |
possibly damaging |
Het |
Nherf4 |
A |
T |
9: 44,162,117 (GRCm39) |
|
probably null |
Het |
Oplah |
A |
G |
15: 76,181,476 (GRCm39) |
Y1155H |
probably damaging |
Het |
Or5b105 |
T |
G |
19: 13,079,790 (GRCm39) |
K287Q |
probably damaging |
Het |
Pcnx1 |
C |
T |
12: 81,965,018 (GRCm39) |
T395I |
probably damaging |
Het |
Pitrm1 |
A |
G |
13: 6,606,723 (GRCm39) |
H259R |
probably damaging |
Het |
Pllp |
C |
A |
8: 95,406,072 (GRCm39) |
M70I |
possibly damaging |
Het |
Pop1 |
A |
G |
15: 34,508,926 (GRCm39) |
T334A |
probably benign |
Het |
Prep |
T |
C |
10: 44,968,894 (GRCm39) |
|
probably benign |
Het |
Ptprz1 |
C |
A |
6: 22,959,623 (GRCm39) |
|
probably benign |
Het |
Sbsn |
A |
G |
7: 30,455,390 (GRCm39) |
S170G |
probably damaging |
Het |
Sco1 |
T |
G |
11: 66,954,846 (GRCm39) |
S284A |
probably benign |
Het |
Slc25a10 |
T |
A |
11: 120,388,265 (GRCm39) |
M227K |
probably damaging |
Het |
Trav7-6 |
A |
G |
14: 53,954,638 (GRCm39) |
K56R |
probably benign |
Het |
Ubr4 |
T |
G |
4: 139,179,116 (GRCm39) |
C3322G |
probably damaging |
Het |
Unc5a |
T |
C |
13: 55,151,182 (GRCm39) |
Y608H |
probably damaging |
Het |
Zfand1 |
A |
C |
3: 10,405,816 (GRCm39) |
N262K |
probably benign |
Het |
Zfp335 |
C |
T |
2: 164,743,380 (GRCm39) |
R536H |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGAGAAGATGTACCTAACCCTCC -3'
(R):5'- ATCTAAGCTGTTCTTTGTCCCATAG -3'
Sequencing Primer
(F):5'- TAACCCTCCGGAGACTTGAG -3'
(R):5'- AAGCTGTTCTTTGTCCCATAGTTTTC -3'
|
Posted On |
2015-04-30 |