Incidental Mutation 'R1704:Lipo3'
| ID |
189995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lipo3
|
| Ensembl Gene |
ENSMUSG00000024766 |
| Gene Name |
lipase, member O3 |
| Synonyms |
Lipo1 |
| MMRRC Submission |
039737-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R1704 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
33532560-33568069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33757743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 242
(V242E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178735]
|
| AlphaFold |
Q3UT41 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148137
|
| SMART Domains |
Protein: ENSMUSP00000118385
Gene: ENSMUSG00000079342
| 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 |
possibly damaging
Transcript: ENSMUST00000178735
AA Change: V242E
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000136249
Gene: ENSMUSG00000079342
AA Change: V242E
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad1 |
C |
T |
3: 37,146,164 (GRCm39) |
H511Y |
probably benign |
Het |
| Aldh1l2 |
C |
T |
10: 83,344,524 (GRCm39) |
A341T |
probably benign |
Het |
| Apon |
T |
C |
10: 128,090,865 (GRCm39) |
F181S |
probably damaging |
Het |
| Avpr1b |
T |
A |
1: 131,537,242 (GRCm39) |
L342Q |
possibly damaging |
Het |
| Cacna1c |
A |
T |
6: 118,579,107 (GRCm39) |
H1810Q |
probably benign |
Het |
| Camta1 |
T |
C |
4: 151,159,681 (GRCm39) |
Y1593C |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,150,390 (GRCm39) |
I2527F |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,989,327 (GRCm39) |
S1825T |
probably damaging |
Het |
| Cntnap4 |
T |
A |
8: 113,484,155 (GRCm39) |
W403R |
probably damaging |
Het |
| Crppa |
A |
G |
12: 36,571,493 (GRCm39) |
E279G |
probably benign |
Het |
| D630045J12Rik |
G |
A |
6: 38,116,362 (GRCm39) |
P1753S |
probably benign |
Het |
| Dsg4 |
T |
C |
18: 20,604,646 (GRCm39) |
Y1038H |
probably damaging |
Het |
| Fat1 |
C |
T |
8: 45,478,613 (GRCm39) |
T2553I |
probably damaging |
Het |
| Fem1c |
A |
T |
18: 46,639,263 (GRCm39) |
N246K |
probably benign |
Het |
| Frmd8 |
T |
A |
19: 5,919,510 (GRCm39) |
Q179L |
probably benign |
Het |
| Gbp10 |
A |
G |
5: 105,372,217 (GRCm39) |
F181S |
probably damaging |
Het |
| Hfe |
T |
C |
13: 23,888,391 (GRCm39) |
Y265C |
probably damaging |
Het |
| Kifap3 |
A |
G |
1: 163,656,765 (GRCm39) |
N362D |
possibly damaging |
Het |
| Lima1 |
A |
G |
15: 99,717,617 (GRCm39) |
F130L |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,354,127 (GRCm39) |
|
probably null |
Het |
| Nos1ap |
C |
G |
1: 170,165,781 (GRCm39) |
E161Q |
probably damaging |
Het |
| Or1q1 |
A |
T |
2: 36,886,896 (GRCm39) |
I25F |
probably benign |
Het |
| Or2t43 |
A |
T |
11: 58,457,580 (GRCm39) |
M197K |
probably damaging |
Het |
| Pde4dip |
C |
T |
3: 97,661,576 (GRCm39) |
V611I |
probably benign |
Het |
| Pdk2 |
T |
C |
11: 94,919,376 (GRCm39) |
I300V |
possibly damaging |
Het |
| Polr2b |
A |
G |
5: 77,490,407 (GRCm39) |
D849G |
possibly damaging |
Het |
| Polr3a |
G |
A |
14: 24,534,188 (GRCm39) |
Q106* |
probably null |
Het |
| Prr14l |
G |
T |
5: 32,987,626 (GRCm39) |
A623D |
probably benign |
Het |
| Rab43 |
A |
C |
6: 87,788,363 (GRCm39) |
|
probably null |
Het |
| Sart3 |
G |
A |
5: 113,884,068 (GRCm39) |
T648M |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,438,460 (GRCm39) |
D1803G |
probably damaging |
Het |
| Sec11a |
A |
T |
7: 80,584,848 (GRCm39) |
S30T |
possibly damaging |
Het |
| Sez6l2 |
G |
A |
7: 126,557,513 (GRCm39) |
G309E |
probably damaging |
Het |
| Snx14 |
A |
C |
9: 88,295,591 (GRCm39) |
D191E |
probably damaging |
Het |
| Sox6 |
A |
T |
7: 115,076,183 (GRCm39) |
N777K |
possibly damaging |
Het |
| Susd4 |
A |
G |
1: 182,681,678 (GRCm39) |
N173S |
probably damaging |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Tgfbrap1 |
G |
T |
1: 43,093,816 (GRCm39) |
Q559K |
probably benign |
Het |
| Tmco1 |
T |
C |
1: 167,153,506 (GRCm39) |
S129P |
possibly damaging |
Het |
| Tmprss11a |
T |
C |
5: 86,576,561 (GRCm39) |
T97A |
probably benign |
Het |
| Tnni3k |
G |
A |
3: 154,533,145 (GRCm39) |
A774V |
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,470,785 (GRCm39) |
S925P |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,553,993 (GRCm39) |
V3494A |
probably damaging |
Het |
| Vmn2r9 |
T |
C |
5: 108,994,266 (GRCm39) |
D461G |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,432,264 (GRCm39) |
C2344* |
probably null |
Het |
| Zfp629 |
A |
G |
7: 127,210,036 (GRCm39) |
I591T |
probably benign |
Het |
| Zfp955a |
G |
A |
17: 33,460,699 (GRCm39) |
R478* |
probably null |
Het |
| Zmym1 |
A |
T |
4: 126,942,177 (GRCm39) |
I737N |
probably damaging |
Het |
| Zranb3 |
T |
C |
1: 128,019,740 (GRCm39) |
M1V |
probably null |
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 |
|
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 |
|
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'- GGACAACAGACCTGTGCTCTTATGG -3'
(R):5'- TGATCCAAGCCAATCCACCTTTCAG -3'
Sequencing Primer
(F):5'- ATCTTAGCAacatacacacacacac -3'
(R):5'- GCAGCACACAGTAGTTTAGTC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation