Incidental Mutation 'IGL00953:Lmf2'
| ID |
29082 |
| 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 # |
IGL00953
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
89235207-89239862 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89238102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 234
(I234N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023283
(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: I234N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023283
Gene: ENSMUSG00000022614
AA Change: I234N
| 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 |
probably benign
Transcript: ENSMUST00000145259
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145793
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231067
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229291
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230112
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231107
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229436
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,902,047 (GRCm39) |
E726G |
probably benign |
Het |
| Cdyl2 |
T |
A |
8: 117,321,928 (GRCm39) |
|
probably benign |
Het |
| Cep41 |
T |
C |
6: 30,660,966 (GRCm39) |
T109A |
probably benign |
Het |
| Clca3b |
C |
T |
3: 144,552,972 (GRCm39) |
W84* |
probably null |
Het |
| Cyp27b1 |
A |
G |
10: 126,885,551 (GRCm39) |
D130G |
probably benign |
Het |
| Cyp2f2 |
T |
C |
7: 26,829,242 (GRCm39) |
V249A |
possibly damaging |
Het |
| Cyth3 |
G |
A |
5: 143,692,920 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
T |
17: 30,925,431 (GRCm39) |
E1289* |
probably null |
Het |
| Fam171a1 |
A |
T |
2: 3,179,327 (GRCm39) |
D51V |
possibly damaging |
Het |
| Farp2 |
A |
G |
1: 93,488,896 (GRCm39) |
R107G |
possibly damaging |
Het |
| Gemin6 |
T |
C |
17: 80,535,294 (GRCm39) |
F85L |
possibly damaging |
Het |
| Hivep3 |
A |
C |
4: 119,955,571 (GRCm39) |
T1296P |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Htt |
T |
A |
5: 34,976,021 (GRCm39) |
S670T |
probably benign |
Het |
| Klhl24 |
A |
T |
16: 19,941,717 (GRCm39) |
N555I |
possibly damaging |
Het |
| Limd1 |
T |
A |
9: 123,308,948 (GRCm39) |
S216T |
probably benign |
Het |
| Mrpl4 |
C |
A |
9: 20,919,863 (GRCm39) |
D271E |
probably benign |
Het |
| Mydgf |
C |
T |
17: 56,486,407 (GRCm39) |
G75R |
probably damaging |
Het |
| Nat1 |
A |
G |
8: 67,943,630 (GRCm39) |
D5G |
possibly damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,636 (GRCm39) |
V322A |
probably benign |
Het |
| Or5h22 |
A |
T |
16: 58,895,052 (GRCm39) |
Y130* |
probably null |
Het |
| Or5k15 |
A |
C |
16: 58,710,048 (GRCm39) |
H178Q |
probably damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,077,951 (GRCm39) |
M363K |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,480,329 (GRCm39) |
F137S |
probably damaging |
Het |
| Rbm12b1 |
A |
G |
4: 12,146,038 (GRCm39) |
D670G |
probably damaging |
Het |
| Rrp12 |
C |
A |
19: 41,860,231 (GRCm39) |
M997I |
possibly damaging |
Het |
| Scn3a |
A |
G |
2: 65,327,736 (GRCm39) |
V918A |
probably benign |
Het |
| Slc35g2 |
A |
G |
9: 100,434,516 (GRCm39) |
V385A |
probably damaging |
Het |
| Slit1 |
A |
T |
19: 41,590,739 (GRCm39) |
I1311N |
probably damaging |
Het |
| Ube2j2 |
C |
T |
4: 156,030,834 (GRCm39) |
|
probably benign |
Het |
| Ucp2 |
A |
G |
7: 100,147,629 (GRCm39) |
T203A |
probably benign |
Het |
| Upk1b |
C |
T |
16: 38,600,347 (GRCm39) |
G211D |
possibly damaging |
Het |
| Vmn1r220 |
A |
T |
13: 23,367,935 (GRCm39) |
F254I |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,965,638 (GRCm39) |
F314S |
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 |
|
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 |
|
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 |
Incidental Mutation