Incidental Mutation 'IGL00987:Lmf2'
ID |
29114 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lmf2
|
Ensembl Gene |
ENSMUSG00000022614 |
Gene Name |
lipase maturation factor 2 |
Synonyms |
Tmem112b, Tmem153 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
IGL00987
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
89235207-89239862 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89238771 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 115
(Y115C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023283
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023283]
[ENSMUST00000036987]
[ENSMUST00000074552]
[ENSMUST00000088717]
[ENSMUST00000229111]
[ENSMUST00000145259]
|
AlphaFold |
Q8C3X8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023283
AA Change: Y115C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000023283 Gene: ENSMUSG00000022614 AA Change: Y115C
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
transmembrane domain
|
87 |
109 |
N/A |
INTRINSIC |
Pfam:LMF1
|
122 |
589 |
5.6e-164 |
PFAM |
low complexity region
|
679 |
693 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000036987
|
SMART Domains |
Protein: ENSMUSP00000036900 Gene: ENSMUSG00000008690
Domain | Start | End | E-Value | Type |
Pfam:DUF1032
|
20 |
576 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000074552
|
SMART Domains |
Protein: ENSMUSP00000074139 Gene: ENSMUSG00000008690
Domain | Start | End | E-Value | Type |
Pfam:DUF1032
|
51 |
607 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000088717
|
SMART Domains |
Protein: ENSMUSP00000086095 Gene: ENSMUSG00000008690
Domain | Start | End | E-Value | Type |
Pfam:CNDH2_N
|
11 |
123 |
1.2e-48 |
PFAM |
Pfam:CNDH2_M
|
147 |
285 |
2.1e-20 |
PFAM |
Pfam:CNDH2_C
|
308 |
598 |
1.9e-90 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123889
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141643
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145793
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231067
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229111
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229291
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231107
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230112
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145259
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229436
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229308
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230523
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot9 |
T |
C |
X: 154,078,177 (GRCm39) |
I241T |
probably benign |
Het |
Atp5mc3 |
T |
A |
2: 73,740,270 (GRCm39) |
R19* |
probably null |
Het |
Celf4 |
T |
C |
18: 25,620,007 (GRCm39) |
D420G |
probably damaging |
Het |
Cideb |
C |
A |
14: 55,992,017 (GRCm39) |
R179L |
possibly damaging |
Het |
Cmtr1 |
G |
A |
17: 29,916,143 (GRCm39) |
R591H |
probably benign |
Het |
Dync1li2 |
A |
T |
8: 105,169,130 (GRCm39) |
S34T |
possibly damaging |
Het |
Eri2 |
A |
G |
7: 119,390,389 (GRCm39) |
Y80H |
probably damaging |
Het |
Eya2 |
A |
G |
2: 165,596,401 (GRCm39) |
E304G |
probably damaging |
Het |
Fam135a |
A |
C |
1: 24,094,979 (GRCm39) |
L130V |
probably damaging |
Het |
Fancb |
A |
T |
X: 163,774,594 (GRCm39) |
K410N |
probably damaging |
Het |
Gabpb2 |
A |
C |
3: 95,107,502 (GRCm39) |
V191G |
probably damaging |
Het |
Gfm1 |
A |
G |
3: 67,345,893 (GRCm39) |
H197R |
possibly damaging |
Het |
Gm11595 |
A |
G |
11: 99,663,365 (GRCm39) |
V105A |
unknown |
Het |
Hectd3 |
T |
A |
4: 116,856,840 (GRCm39) |
D462E |
probably damaging |
Het |
Herc1 |
G |
T |
9: 66,315,334 (GRCm39) |
V1139L |
probably benign |
Het |
Itgal |
T |
C |
7: 126,901,183 (GRCm39) |
F190L |
probably damaging |
Het |
Krt87 |
G |
A |
15: 101,336,327 (GRCm39) |
H109Y |
probably benign |
Het |
Papolg |
T |
A |
11: 23,826,377 (GRCm39) |
Y259F |
possibly damaging |
Het |
Parn |
T |
C |
16: 13,485,467 (GRCm39) |
I10V |
probably benign |
Het |
Pdcd11 |
T |
A |
19: 47,102,989 (GRCm39) |
|
probably benign |
Het |
Phldb2 |
T |
A |
16: 45,583,465 (GRCm39) |
Q1003L |
possibly damaging |
Het |
Pigg |
T |
A |
5: 108,489,944 (GRCm39) |
F850I |
probably damaging |
Het |
Pkp4 |
T |
C |
2: 59,138,701 (GRCm39) |
L317P |
probably damaging |
Het |
Polr2a |
T |
C |
11: 69,634,620 (GRCm39) |
|
probably benign |
Het |
Prdm16 |
G |
A |
4: 154,426,426 (GRCm39) |
T453M |
possibly damaging |
Het |
Rnf144b |
A |
T |
13: 47,360,969 (GRCm39) |
E36D |
possibly damaging |
Het |
Ryr2 |
G |
A |
13: 11,750,388 (GRCm39) |
T1961I |
probably damaging |
Het |
Sash1 |
T |
A |
10: 8,627,177 (GRCm39) |
K305I |
probably damaging |
Het |
Tbc1d7 |
A |
T |
13: 43,312,797 (GRCm39) |
I32N |
probably damaging |
Het |
Thop1 |
T |
C |
10: 80,917,529 (GRCm39) |
F623L |
probably damaging |
Het |
Thsd7b |
G |
A |
1: 129,541,016 (GRCm39) |
G297R |
probably damaging |
Het |
Tln1 |
C |
A |
4: 43,551,297 (GRCm39) |
|
probably benign |
Het |
Vmn1r183 |
A |
G |
7: 23,754,649 (GRCm39) |
N151D |
probably damaging |
Het |
|
Other mutations in Lmf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00896:Lmf2
|
APN |
15 |
89,237,539 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00953:Lmf2
|
APN |
15 |
89,238,102 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01069:Lmf2
|
APN |
15 |
89,237,091 (GRCm39) |
missense |
probably benign |
0.35 |
IGL01340:Lmf2
|
APN |
15 |
89,237,075 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01878:Lmf2
|
APN |
15 |
89,236,621 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02588:Lmf2
|
APN |
15 |
89,239,609 (GRCm39) |
splice site |
probably null |
|
IGL02698:Lmf2
|
APN |
15 |
89,238,357 (GRCm39) |
missense |
probably damaging |
1.00 |
BB003:Lmf2
|
UTSW |
15 |
89,236,624 (GRCm39) |
missense |
probably damaging |
1.00 |
BB013:Lmf2
|
UTSW |
15 |
89,236,624 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4651001:Lmf2
|
UTSW |
15 |
89,236,272 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1761:Lmf2
|
UTSW |
15 |
89,236,916 (GRCm39) |
missense |
possibly damaging |
0.61 |
R2355:Lmf2
|
UTSW |
15 |
89,235,966 (GRCm39) |
missense |
possibly damaging |
0.65 |
R2880:Lmf2
|
UTSW |
15 |
89,235,856 (GRCm39) |
missense |
possibly damaging |
0.59 |
R4896:Lmf2
|
UTSW |
15 |
89,236,003 (GRCm39) |
missense |
probably benign |
0.16 |
R5141:Lmf2
|
UTSW |
15 |
89,235,810 (GRCm39) |
splice site |
probably null |
|
R6785:Lmf2
|
UTSW |
15 |
89,236,236 (GRCm39) |
missense |
probably benign |
0.43 |
R7301:Lmf2
|
UTSW |
15 |
89,239,733 (GRCm39) |
start gained |
probably benign |
|
R7926:Lmf2
|
UTSW |
15 |
89,236,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R8110:Lmf2
|
UTSW |
15 |
89,236,561 (GRCm39) |
critical splice donor site |
probably null |
|
R8274:Lmf2
|
UTSW |
15 |
89,236,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R8472:Lmf2
|
UTSW |
15 |
89,239,005 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9127:Lmf2
|
UTSW |
15 |
89,239,771 (GRCm39) |
start gained |
probably benign |
|
R9332:Lmf2
|
UTSW |
15 |
89,239,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R9333:Lmf2
|
UTSW |
15 |
89,239,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R9334:Lmf2
|
UTSW |
15 |
89,239,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R9710:Lmf2
|
UTSW |
15 |
89,237,419 (GRCm39) |
missense |
probably benign |
0.09 |
|
Posted On |
2013-04-17 |