Incidental Mutation 'IGL01916:Lipo3'
| ID |
179937 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lipo3
|
| Ensembl Gene |
ENSMUSG00000024766 |
| Gene Name |
lipase, member O3 |
| Synonyms |
Lipo1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL01916
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
33532560-33568069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 33762182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 105
(A105E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178735]
|
| AlphaFold |
Q3UT41 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000148137
AA Change: A108E
|
| SMART Domains |
Protein: ENSMUSP00000118385
Gene: ENSMUSG00000079342
AA Change: A108E
| 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: A105E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136249
Gene: ENSMUSG00000079342
AA Change: A105E
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
C |
11: 109,684,937 (GRCm39) |
T187A |
probably damaging |
Het |
| A430005L14Rik |
C |
A |
4: 154,045,997 (GRCm39) |
F214L |
possibly damaging |
Het |
| A830018L16Rik |
C |
A |
1: 11,818,331 (GRCm39) |
|
probably benign |
Het |
| Adgrd1 |
T |
C |
5: 129,209,902 (GRCm39) |
S342P |
probably benign |
Het |
| Aldh4a1 |
A |
G |
4: 139,371,457 (GRCm39) |
Y457C |
probably damaging |
Het |
| Ankrd7 |
A |
T |
6: 18,868,250 (GRCm39) |
E124V |
possibly damaging |
Het |
| Atad5 |
T |
A |
11: 80,003,665 (GRCm39) |
|
probably null |
Het |
| Card14 |
T |
C |
11: 119,233,971 (GRCm39) |
Y854H |
probably benign |
Het |
| Ccdc85c |
T |
C |
12: 108,174,103 (GRCm39) |
H355R |
probably damaging |
Het |
| Ccr3 |
T |
A |
9: 123,829,589 (GRCm39) |
V308D |
probably damaging |
Het |
| Cep170 |
T |
C |
1: 176,567,476 (GRCm39) |
|
probably benign |
Het |
| Cmtr2 |
C |
A |
8: 110,948,580 (GRCm39) |
Q297K |
probably benign |
Het |
| Col19a1 |
A |
C |
1: 24,573,322 (GRCm39) |
L150R |
unknown |
Het |
| Cwf19l2 |
T |
C |
9: 3,477,869 (GRCm39) |
I858T |
possibly damaging |
Het |
| Cyp39a1 |
C |
T |
17: 44,041,941 (GRCm39) |
P383S |
probably damaging |
Het |
| Ddi2 |
C |
T |
4: 141,422,709 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
T |
G |
11: 118,016,114 (GRCm39) |
I342L |
probably benign |
Het |
| Efhc1 |
T |
C |
1: 21,048,973 (GRCm39) |
I462T |
probably damaging |
Het |
| Ephx4 |
A |
T |
5: 107,553,896 (GRCm39) |
|
probably null |
Het |
| Fam193b |
A |
G |
13: 55,698,031 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,157,366 (GRCm39) |
N2306D |
possibly damaging |
Het |
| Folr1 |
A |
T |
7: 101,507,947 (GRCm39) |
H164Q |
probably benign |
Het |
| Fut10 |
T |
C |
8: 31,725,734 (GRCm39) |
V163A |
probably benign |
Het |
| Gal3st4 |
G |
A |
5: 138,269,197 (GRCm39) |
R83C |
probably damaging |
Het |
| Galnt16 |
T |
C |
12: 80,639,264 (GRCm39) |
|
probably null |
Het |
| Gata5 |
G |
A |
2: 179,968,734 (GRCm39) |
S380F |
possibly damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm4787 |
A |
T |
12: 81,424,218 (GRCm39) |
L647M |
probably benign |
Het |
| Gvin3 |
T |
G |
7: 106,201,033 (GRCm39) |
H737P |
probably benign |
Het |
| Hcfc2 |
A |
G |
10: 82,570,217 (GRCm39) |
K523E |
possibly damaging |
Het |
| Ift70a1 |
C |
A |
2: 75,811,223 (GRCm39) |
V287L |
probably damaging |
Het |
| Igkv6-15 |
A |
T |
6: 70,383,458 (GRCm39) |
Y114* |
probably null |
Het |
| Il10ra |
A |
T |
9: 45,167,444 (GRCm39) |
L369Q |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,616,606 (GRCm39) |
K51R |
possibly damaging |
Het |
| Kif26a |
C |
T |
12: 112,143,328 (GRCm39) |
P1194L |
possibly damaging |
Het |
| Kntc1 |
T |
G |
5: 123,939,976 (GRCm39) |
L1590R |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,335,423 (GRCm39) |
S4382C |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,369,830 (GRCm39) |
E79K |
probably damaging |
Het |
| Nmnat2 |
T |
C |
1: 152,969,792 (GRCm39) |
I195T |
probably damaging |
Het |
| Or11g25 |
A |
G |
14: 50,722,950 (GRCm39) |
T12A |
probably benign |
Het |
| Pcdhb13 |
A |
G |
18: 37,576,914 (GRCm39) |
T431A |
possibly damaging |
Het |
| Pcgf3 |
G |
A |
5: 108,634,045 (GRCm39) |
G101D |
probably benign |
Het |
| Phip |
T |
C |
9: 82,772,522 (GRCm39) |
D1070G |
possibly damaging |
Het |
| Ren1 |
A |
G |
1: 133,286,150 (GRCm39) |
H231R |
probably benign |
Het |
| Sox9 |
C |
A |
11: 112,675,500 (GRCm39) |
Q230K |
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,498,497 (GRCm39) |
Y154N |
probably damaging |
Het |
| Thnsl1 |
A |
T |
2: 21,217,476 (GRCm39) |
N410I |
possibly damaging |
Het |
| Tnfrsf21 |
A |
T |
17: 43,350,694 (GRCm39) |
E286V |
probably benign |
Het |
| Trbv13-1 |
A |
G |
6: 41,093,246 (GRCm39) |
R60G |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wrn |
T |
A |
8: 33,747,252 (GRCm39) |
I1110F |
possibly damaging |
Het |
| Zfp777 |
G |
T |
6: 48,002,276 (GRCm39) |
R649S |
probably damaging |
Het |
| Zmym6 |
T |
A |
4: 127,017,549 (GRCm39) |
I1110N |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation