Incidental Mutation 'IGL02588:Lmf2'
ID |
299606 |
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: 0.113)
|
Stock # |
IGL02588
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
89235207-89239862 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 89239609 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086095
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023283]
[ENSMUST00000036987]
[ENSMUST00000074552]
[ENSMUST00000088717]
[ENSMUST00000145259]
[ENSMUST00000229111]
|
AlphaFold |
Q8C3X8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023283
AA Change: V15E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000023283 Gene: ENSMUSG00000022614 AA Change: V15E
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 null
Transcript: ENSMUST00000036987
|
SMART Domains |
Protein: ENSMUSP00000036900 Gene: ENSMUSG00000008690
Domain | Start | End | E-Value | Type |
Pfam:DUF1032
|
20 |
576 |
N/A |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000074552
|
SMART Domains |
Protein: ENSMUSP00000074139 Gene: ENSMUSG00000008690
Domain | Start | End | E-Value | Type |
Pfam:DUF1032
|
51 |
607 |
N/A |
PFAM |
|
Predicted Effect |
probably null
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 |
probably benign
Transcript: ENSMUST00000145259
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145793
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229111
AA Change: V15E
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230112
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229291
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230523
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229308
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229436
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231067
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231107
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap6 |
G |
A |
12: 52,933,282 (GRCm39) |
W258* |
probably null |
Het |
Ankmy2 |
T |
C |
12: 36,226,685 (GRCm39) |
|
probably benign |
Het |
Arhgap26 |
G |
T |
18: 38,734,670 (GRCm39) |
|
probably benign |
Het |
Aspscr1 |
A |
G |
11: 120,568,357 (GRCm39) |
D60G |
possibly damaging |
Het |
Cdh15 |
C |
A |
8: 123,583,291 (GRCm39) |
Y31* |
probably null |
Het |
Cnih3 |
A |
G |
1: 181,237,269 (GRCm39) |
R76G |
probably benign |
Het |
Cplx1 |
C |
A |
5: 108,673,289 (GRCm39) |
R44L |
possibly damaging |
Het |
Dhx57 |
T |
A |
17: 80,576,300 (GRCm39) |
I597F |
probably damaging |
Het |
Dnah17 |
G |
T |
11: 117,916,479 (GRCm39) |
F4231L |
possibly damaging |
Het |
Dst |
T |
G |
1: 34,156,565 (GRCm39) |
L173R |
probably damaging |
Het |
Fezf2 |
A |
T |
14: 12,343,687 (GRCm38) |
Y353N |
probably damaging |
Het |
Ghrhr |
T |
A |
6: 55,360,395 (GRCm39) |
L247Q |
probably damaging |
Het |
Gm10912 |
C |
T |
2: 103,897,197 (GRCm39) |
|
probably benign |
Het |
Gpcpd1 |
A |
T |
2: 132,376,673 (GRCm39) |
L541H |
probably damaging |
Het |
Gpld1 |
C |
T |
13: 25,127,682 (GRCm39) |
T28I |
probably damaging |
Het |
Lratd2 |
T |
C |
15: 60,694,999 (GRCm39) |
D249G |
probably damaging |
Het |
Mex3c |
A |
G |
18: 73,723,116 (GRCm39) |
N403S |
probably damaging |
Het |
Nlrp1b |
A |
T |
11: 71,073,105 (GRCm39) |
L246* |
probably null |
Het |
Nlrp2 |
A |
T |
7: 5,330,551 (GRCm39) |
L615* |
probably null |
Het |
Nlrp4c |
A |
T |
7: 6,087,647 (GRCm39) |
D760V |
probably benign |
Het |
Nlrp4g |
T |
C |
9: 124,348,843 (GRCm38) |
|
noncoding transcript |
Het |
Nr2f1 |
C |
A |
13: 78,343,275 (GRCm39) |
|
probably benign |
Het |
Nuggc |
T |
A |
14: 65,855,226 (GRCm39) |
|
probably benign |
Het |
Or4c122 |
T |
C |
2: 89,080,042 (GRCm39) |
|
probably benign |
Het |
Or52d1 |
C |
T |
7: 103,756,260 (GRCm39) |
T258I |
possibly damaging |
Het |
Papolg |
T |
A |
11: 23,840,252 (GRCm39) |
I75F |
probably damaging |
Het |
Pcdhgc5 |
A |
G |
18: 37,955,003 (GRCm39) |
Y759C |
probably damaging |
Het |
Pdp2 |
A |
G |
8: 105,321,536 (GRCm39) |
K462E |
possibly damaging |
Het |
Plod1 |
A |
T |
4: 147,997,747 (GRCm39) |
L654* |
probably null |
Het |
Ppp4r3b |
G |
T |
11: 29,148,853 (GRCm39) |
G25* |
probably null |
Het |
Ptch1 |
T |
C |
13: 63,659,732 (GRCm39) |
D1307G |
probably benign |
Het |
Ranbp17 |
A |
G |
11: 33,167,361 (GRCm39) |
V1034A |
probably benign |
Het |
Rbl2 |
T |
A |
8: 91,813,712 (GRCm39) |
L319Q |
probably damaging |
Het |
Retnlg |
A |
G |
16: 48,693,255 (GRCm39) |
T11A |
probably benign |
Het |
Rfc3 |
A |
T |
5: 151,566,381 (GRCm39) |
F356Y |
possibly damaging |
Het |
Rnf213 |
G |
T |
11: 119,307,362 (GRCm39) |
C674F |
probably benign |
Het |
Shcbp1l |
A |
G |
1: 153,304,411 (GRCm39) |
K157E |
probably benign |
Het |
Slc22a17 |
A |
G |
14: 55,145,451 (GRCm39) |
C233R |
probably damaging |
Het |
Slc38a9 |
A |
G |
13: 112,834,511 (GRCm39) |
|
probably null |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
St14 |
C |
A |
9: 31,001,329 (GRCm39) |
|
probably benign |
Het |
Sympk |
G |
A |
7: 18,776,550 (GRCm39) |
V481M |
probably benign |
Het |
Timeless |
T |
A |
10: 128,079,203 (GRCm39) |
L350Q |
probably damaging |
Het |
Tnfrsf1a |
A |
G |
6: 125,337,729 (GRCm39) |
I229V |
probably benign |
Het |
Ugt3a1 |
A |
T |
15: 9,361,542 (GRCm39) |
H106L |
probably benign |
Het |
Zbtb45 |
A |
T |
7: 12,740,204 (GRCm39) |
C470* |
probably null |
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 |
IGL00987:Lmf2
|
APN |
15 |
89,238,771 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
2015-04-16 |