Incidental Mutation 'IGL00896:Lmf2'
ID |
29022 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lmf2
|
Ensembl Gene |
ENSMUSG00000022614 |
Gene Name |
lipase maturation factor 2 |
Synonyms |
Tmem153, Tmem112b |
Accession Numbers |
|
Is this an essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
IGL00896
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
89351004-89355659 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89353336 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 308
(K308E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023283
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023283]
[ENSMUST00000036987]
[ENSMUST00000074552]
[ENSMUST00000088717]
[ENSMUST00000145259]
[ENSMUST00000229111]
|
AlphaFold |
Q8C3X8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023283
AA Change: K308E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000023283 Gene: ENSMUSG00000022614 AA Change: K308E
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 |
probably benign
Transcript: ENSMUST00000229111
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229291
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229308
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229436
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230523
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231067
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230112
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231107
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932438A13Rik |
A |
G |
3: 37,039,462 |
T4352A |
probably benign |
Het |
Adam6a |
A |
G |
12: 113,545,410 |
T468A |
possibly damaging |
Het |
Ankrd35 |
A |
G |
3: 96,684,276 |
E626G |
probably damaging |
Het |
Arhgef4 |
A |
G |
1: 34,811,696 |
Y1812C |
possibly damaging |
Het |
Aurkc |
T |
C |
7: 7,002,514 |
Y260H |
possibly damaging |
Het |
Cpb1 |
A |
G |
3: 20,252,029 |
V329A |
probably benign |
Het |
Cyp2d11 |
G |
T |
15: 82,391,074 |
|
probably benign |
Het |
Dnase1 |
G |
A |
16: 4,039,212 |
S28N |
probably benign |
Het |
Evpl |
C |
A |
11: 116,222,584 |
E1427* |
probably null |
Het |
Gimap6 |
T |
C |
6: 48,702,460 |
N214S |
probably benign |
Het |
Htr1f |
A |
T |
16: 64,926,106 |
H274Q |
probably benign |
Het |
Ipo9 |
A |
T |
1: 135,400,059 |
V538E |
probably damaging |
Het |
Mog |
T |
A |
17: 37,017,485 |
|
probably null |
Het |
Myo19 |
T |
C |
11: 84,909,498 |
V903A |
probably benign |
Het |
Myt1l |
A |
G |
12: 29,826,886 |
T179A |
unknown |
Het |
Nckap1 |
C |
T |
2: 80,580,953 |
V5M |
possibly damaging |
Het |
Olfr382 |
T |
C |
11: 73,516,341 |
N286S |
probably damaging |
Het |
Olfr459 |
A |
T |
6: 41,772,113 |
L62Q |
probably damaging |
Het |
Olfr630 |
T |
C |
7: 103,755,006 |
D193G |
probably damaging |
Het |
Pcdhb5 |
T |
G |
18: 37,322,785 |
|
probably null |
Het |
Pcm1 |
C |
A |
8: 41,276,123 |
Q711K |
possibly damaging |
Het |
Pde6a |
A |
G |
18: 61,220,792 |
D63G |
possibly damaging |
Het |
Piezo1 |
T |
C |
8: 122,497,870 |
M711V |
possibly damaging |
Het |
Prrxl1 |
C |
T |
14: 32,605,214 |
|
probably benign |
Het |
Rev1 |
G |
A |
1: 38,098,940 |
T88I |
probably damaging |
Het |
Sntg1 |
A |
T |
1: 8,595,410 |
|
probably null |
Het |
Sult2a1 |
T |
A |
7: 13,832,640 |
T137S |
probably benign |
Het |
Txndc15 |
G |
A |
13: 55,725,675 |
A283T |
probably damaging |
Het |
Zswim8 |
A |
G |
14: 20,716,001 |
E785G |
probably damaging |
Het |
|
Other mutations in Lmf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00953:Lmf2
|
APN |
15 |
89353899 |
missense |
probably damaging |
1.00 |
IGL00987:Lmf2
|
APN |
15 |
89354568 |
missense |
probably benign |
|
IGL01069:Lmf2
|
APN |
15 |
89352888 |
missense |
probably benign |
0.35 |
IGL01340:Lmf2
|
APN |
15 |
89352872 |
missense |
probably damaging |
0.98 |
IGL01878:Lmf2
|
APN |
15 |
89352418 |
missense |
probably damaging |
1.00 |
IGL02588:Lmf2
|
APN |
15 |
89355406 |
splice site |
probably null |
|
IGL02698:Lmf2
|
APN |
15 |
89354154 |
missense |
probably damaging |
1.00 |
BB003:Lmf2
|
UTSW |
15 |
89352421 |
missense |
probably damaging |
1.00 |
BB013:Lmf2
|
UTSW |
15 |
89352421 |
missense |
probably damaging |
1.00 |
PIT4651001:Lmf2
|
UTSW |
15 |
89352069 |
missense |
possibly damaging |
0.58 |
R1761:Lmf2
|
UTSW |
15 |
89352713 |
missense |
possibly damaging |
0.61 |
R2355:Lmf2
|
UTSW |
15 |
89351763 |
missense |
possibly damaging |
0.65 |
R2880:Lmf2
|
UTSW |
15 |
89351653 |
missense |
possibly damaging |
0.59 |
R4896:Lmf2
|
UTSW |
15 |
89351800 |
missense |
probably benign |
0.16 |
R5141:Lmf2
|
UTSW |
15 |
89351607 |
splice site |
probably null |
|
R6785:Lmf2
|
UTSW |
15 |
89352033 |
missense |
probably benign |
0.43 |
R7301:Lmf2
|
UTSW |
15 |
89355530 |
start gained |
probably benign |
|
R7926:Lmf2
|
UTSW |
15 |
89352421 |
missense |
probably damaging |
1.00 |
R8110:Lmf2
|
UTSW |
15 |
89352358 |
critical splice donor site |
probably null |
|
R8274:Lmf2
|
UTSW |
15 |
89352663 |
missense |
probably damaging |
1.00 |
R8472:Lmf2
|
UTSW |
15 |
89354802 |
missense |
possibly damaging |
0.80 |
R9127:Lmf2
|
UTSW |
15 |
89355568 |
start gained |
probably benign |
|
R9332:Lmf2
|
UTSW |
15 |
89355374 |
missense |
probably damaging |
1.00 |
R9333:Lmf2
|
UTSW |
15 |
89355374 |
missense |
probably damaging |
1.00 |
R9334:Lmf2
|
UTSW |
15 |
89355374 |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-04-17 |