Incidental Mutation 'IGL01340:Lmf2'
ID 74802
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) question?
Stock # IGL01340
Quality Score
Status
Chromosome 15
Chromosomal Location 89235207-89239862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89237075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 413 (F413S)
Ref Sequence ENSEMBL: ENSMUSP00000023283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023283] [ENSMUST00000036987] [ENSMUST00000074552] [ENSMUST00000088717] [ENSMUST00000229111] [ENSMUST00000145259]
AlphaFold Q8C3X8
Predicted Effect probably damaging
Transcript: ENSMUST00000023283
AA Change: F413S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023283
Gene: ENSMUSG00000022614
AA Change: F413S

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:DUF1032 20 576 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074552
SMART Domains Protein: ENSMUSP00000074139
Gene: ENSMUSG00000008690

DomainStartEndE-ValueType
Pfam:DUF1032 51 607 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000088717
SMART Domains Protein: ENSMUSP00000086095
Gene: ENSMUSG00000008690

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000229111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230523
Predicted Effect probably benign
Transcript: ENSMUST00000145259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229436
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229291
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T A 11: 110,021,453 (GRCm39) I1086L probably benign Het
Adam17 A T 12: 21,380,058 (GRCm39) C630* probably null Het
Adgrg5 T C 8: 95,664,257 (GRCm39) L289P probably damaging Het
Aplp1 G A 7: 30,143,843 (GRCm39) T64I probably damaging Het
Bdh1 T A 16: 31,275,661 (GRCm39) W261R probably damaging Het
Cadm2 A T 16: 66,581,672 (GRCm39) I202N possibly damaging Het
Cd209c C T 8: 3,995,892 (GRCm39) R6H probably benign Het
Cfap221 T A 1: 119,881,350 (GRCm39) I371F possibly damaging Het
Cfap44 A G 16: 44,224,493 (GRCm39) Y67C probably damaging Het
Cilp T C 9: 65,183,256 (GRCm39) S387P probably damaging Het
Cnot1 T C 8: 96,487,165 (GRCm39) D598G probably damaging Het
Col5a1 T C 2: 27,850,463 (GRCm39) L520P unknown Het
Cpvl A T 6: 53,873,436 (GRCm39) Y433* probably null Het
Cxcl1 G T 5: 91,039,434 (GRCm39) C59F probably damaging Het
Cyth3 T A 5: 143,670,190 (GRCm39) L33* probably null Het
Dnah2 T C 11: 69,384,010 (GRCm39) K1069E probably damaging Het
Drosha T A 15: 12,834,109 (GRCm39) probably benign Het
Fam83h T A 15: 75,875,885 (GRCm39) D484V probably damaging Het
Igsf3 C A 3: 101,346,995 (GRCm39) Y663* probably null Het
Kmt5c C T 7: 4,745,140 (GRCm39) R44* probably null Het
Kxd1 T C 8: 70,968,093 (GRCm39) probably null Het
Lars1 A G 18: 42,335,642 (GRCm39) V1158A probably benign Het
Mc4r C T 18: 66,992,229 (GRCm39) A295T probably benign Het
Mrc1 T C 2: 14,314,895 (GRCm39) probably null Het
Mtmr7 T C 8: 41,050,465 (GRCm39) Y110C probably damaging Het
Myd88 A C 9: 119,166,418 (GRCm39) probably benign Het
Ndc1 T C 4: 107,231,344 (GRCm39) V95A probably damaging Het
Ntrk1 T A 3: 87,696,021 (GRCm39) E163V possibly damaging Het
Or4p8 T C 2: 88,727,321 (GRCm39) T207A probably damaging Het
Pappa A T 4: 65,242,109 (GRCm39) D1491V possibly damaging Het
Phc3 T A 3: 30,984,033 (GRCm39) I673F possibly damaging Het
Pkhd1 A T 1: 20,593,201 (GRCm39) N1637K probably benign Het
Relb T C 7: 19,350,298 (GRCm39) I218V probably benign Het
Rgma T C 7: 73,067,078 (GRCm39) F111S probably damaging Het
Slco1a6 A T 6: 142,055,109 (GRCm39) N278K possibly damaging Het
Slfn9 A T 11: 82,872,577 (GRCm39) F720I probably benign Het
Snd1 T A 6: 28,883,368 (GRCm39) V741E probably benign Het
Snx6 C T 12: 54,801,094 (GRCm39) R185Q probably damaging Het
Spata31g1 A C 4: 42,971,984 (GRCm39) E439A possibly damaging Het
Telo2 G A 17: 25,319,103 (GRCm39) probably benign Het
Wdr91 A G 6: 34,881,514 (GRCm39) S278P probably benign Het
Xab2 A T 8: 3,664,381 (GRCm39) D277E probably damaging Het
Zbbx T C 3: 75,012,957 (GRCm39) E158G possibly damaging Het
Other mutations in Lmf2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2013-10-07