Incidental Mutation 'R3802:Lipo3'
| ID |
274381 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lipo3
|
| Ensembl Gene |
ENSMUSG00000024766 |
| Gene Name |
lipase, member O3 |
| Synonyms |
Lipo1 |
| MMRRC Submission |
040761-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R3802 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
33532560-33568069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 33762257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 80
(C80Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178735]
|
| AlphaFold |
Q3UT41 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000148137
AA Change: C83Y
|
| SMART Domains |
Protein: ENSMUSP00000118385
Gene: ENSMUSG00000079342
AA Change: C83Y
| 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 damaging
Transcript: ENSMUST00000178735
AA Change: C80Y
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136249
Gene: ENSMUSG00000079342
AA Change: C80Y
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
A |
T |
4: 144,430,074 (GRCm39) |
L305Q |
possibly damaging |
Het |
| Abcc2 |
C |
A |
19: 43,810,065 (GRCm39) |
N874K |
probably benign |
Het |
| Axl |
A |
T |
7: 25,487,902 (GRCm39) |
M1K |
probably null |
Het |
| Btaf1 |
A |
T |
19: 36,963,948 (GRCm39) |
T840S |
probably benign |
Het |
| Btaf1 |
A |
T |
19: 36,966,373 (GRCm39) |
H1047L |
probably benign |
Het |
| Capn13 |
G |
A |
17: 73,646,396 (GRCm39) |
P339L |
probably benign |
Het |
| Ccdc39 |
A |
T |
3: 33,874,044 (GRCm39) |
M596K |
probably damaging |
Het |
| Cfap20dc |
G |
T |
14: 8,510,931 (GRCm38) |
D494E |
probably benign |
Het |
| Cfap58 |
G |
T |
19: 47,941,498 (GRCm39) |
D289Y |
possibly damaging |
Het |
| Cnn2 |
A |
G |
10: 79,829,329 (GRCm39) |
D153G |
probably benign |
Het |
| Cstdc2 |
T |
C |
2: 148,692,616 (GRCm39) |
H62R |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,365,164 (GRCm39) |
I1625V |
probably benign |
Het |
| Gprc5b |
C |
T |
7: 118,582,943 (GRCm39) |
D309N |
possibly damaging |
Het |
| Grm8 |
T |
G |
6: 28,125,635 (GRCm39) |
N164H |
possibly damaging |
Het |
| Gstm3 |
G |
A |
3: 107,871,551 (GRCm39) |
T210I |
probably benign |
Het |
| Hhipl1 |
A |
G |
12: 108,278,566 (GRCm39) |
E298G |
probably benign |
Het |
| Hivep2 |
A |
G |
10: 14,024,705 (GRCm39) |
D2173G |
possibly damaging |
Het |
| Hsd17b8 |
A |
T |
17: 34,245,441 (GRCm39) |
V231E |
probably damaging |
Het |
| Jarid2 |
T |
A |
13: 45,056,307 (GRCm39) |
N365K |
probably benign |
Het |
| Kank4 |
A |
G |
4: 98,668,370 (GRCm39) |
S26P |
probably damaging |
Het |
| Kpnb1 |
A |
T |
11: 97,056,955 (GRCm39) |
V638E |
possibly damaging |
Het |
| Mga |
T |
A |
2: 119,777,820 (GRCm39) |
N1788K |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mtmr10 |
A |
G |
7: 63,970,376 (GRCm39) |
Y373C |
probably benign |
Het |
| Ncoa6 |
C |
T |
2: 155,247,484 (GRCm39) |
G1940D |
probably benign |
Het |
| Nelfe |
T |
A |
17: 35,072,877 (GRCm39) |
F166L |
possibly damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,806,277 (GRCm39) |
Y374C |
probably damaging |
Het |
| Nhlrc3 |
A |
G |
3: 53,366,052 (GRCm39) |
V147A |
possibly damaging |
Het |
| Or51f1d |
A |
G |
7: 102,701,372 (GRCm39) |
Y289C |
probably benign |
Het |
| Or8g33 |
G |
A |
9: 39,337,582 (GRCm39) |
P262S |
probably damaging |
Het |
| Pak3 |
G |
A |
X: 142,492,727 (GRCm39) |
V87I |
probably damaging |
Het |
| Papolg |
A |
T |
11: 23,826,449 (GRCm39) |
I235N |
probably damaging |
Het |
| Pdgfrl |
T |
C |
8: 41,438,594 (GRCm39) |
S177P |
probably damaging |
Het |
| Phf8 |
T |
C |
X: 150,355,572 (GRCm39) |
S512P |
possibly damaging |
Het |
| Plaa |
T |
C |
4: 94,458,125 (GRCm39) |
D615G |
probably damaging |
Het |
| Prpf4b |
T |
C |
13: 35,067,665 (GRCm39) |
|
probably benign |
Het |
| Sgk1 |
T |
C |
10: 21,873,311 (GRCm39) |
V259A |
probably damaging |
Het |
| Skint4 |
G |
T |
4: 111,975,378 (GRCm39) |
V113L |
probably damaging |
Het |
| Smco1 |
A |
G |
16: 32,092,716 (GRCm39) |
Y129C |
probably benign |
Het |
| Tas2r106 |
C |
A |
6: 131,655,329 (GRCm39) |
S174I |
probably benign |
Het |
| Tektl1 |
A |
C |
10: 78,584,314 (GRCm39) |
F367C |
probably damaging |
Het |
| Tsn |
A |
T |
1: 118,233,026 (GRCm39) |
F93I |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,157,235 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
A |
T |
7: 42,552,829 (GRCm39) |
M809K |
probably damaging |
Het |
| Zfp260 |
G |
A |
7: 29,804,504 (GRCm39) |
E135K |
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,319,897 (GRCm39) |
H375Q |
probably damaging |
Het |
| Zkscan2 |
A |
T |
7: 123,094,365 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAATGTCTTCAATTCAGACCCAC -3'
(R):5'- TGTGTGCAGTTCCATATTGATTGAC -3'
Sequencing Primer
(F):5'- GGAATTGTTCCCTACCTAAAAGC -3'
(R):5'- GCAGTTCCATATTGATTGACTAACTG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation