Incidental Mutation 'IGL02588:Lmf2'
ID299606
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lmf2
Ensembl Gene ENSMUSG00000022614
Gene Namelipase maturation factor 2
SynonymsTmem153, Tmem112b
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.235) question?
Stock #IGL02588
Quality Score
Status
Chromosome15
Chromosomal Location89351004-89355659 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 89355406 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000086095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023283] [ENSMUST00000036987] [ENSMUST00000074552] [ENSMUST00000088717] [ENSMUST00000145259] [ENSMUST00000229111]
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

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 null
Transcript: ENSMUST00000036987
SMART Domains Protein: ENSMUSP00000036900
Gene: ENSMUSG00000008690

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

DomainStartEndE-ValueType
Pfam:DUF1032 51 607 N/A PFAM
Predicted Effect probably null
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 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: ENSMUST00000229291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229436
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230523
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 G A 12: 52,886,499 W258* probably null Het
Ankmy2 T C 12: 36,176,686 probably benign Het
Arhgap26 G T 18: 38,601,617 probably benign Het
Aspscr1 A G 11: 120,677,531 D60G possibly damaging Het
Cdh15 C A 8: 122,856,552 Y31* probably null Het
Cnih3 A G 1: 181,409,704 R76G probably benign Het
Cplx1 C A 5: 108,525,423 R44L possibly damaging Het
Dhx57 T A 17: 80,268,871 I597F probably damaging Het
Dnah17 G T 11: 118,025,653 F4231L possibly damaging Het
Dst T G 1: 34,117,484 L173R probably damaging Het
Fam84b T C 15: 60,823,150 D249G probably damaging Het
Fezf2 A T 14: 12,343,687 Y353N probably damaging Het
Ghrhr T A 6: 55,383,410 L247Q probably damaging Het
Gm10912 C T 2: 104,066,852 probably benign Het
Gpcpd1 A T 2: 132,534,753 L541H probably damaging Het
Gpld1 C T 13: 24,943,699 T28I probably damaging Het
Mex3c A G 18: 73,590,045 N403S probably damaging Het
Nlrp1b A T 11: 71,182,279 L246* probably null Het
Nlrp2 A T 7: 5,327,552 L615* probably null Het
Nlrp4c A T 7: 6,084,648 D760V probably benign Het
Nlrp4g T C 9: 124,348,843 noncoding transcript Het
Nr2f1 C A 13: 78,195,156 probably benign Het
Nuggc T A 14: 65,617,777 probably benign Het
Olfr1228 T C 2: 89,249,698 probably benign Het
Olfr646 C T 7: 104,107,053 T258I possibly damaging Het
Papolg T A 11: 23,890,252 I75F probably damaging Het
Pcdhgc5 A G 18: 37,821,950 Y759C probably damaging Het
Pdp2 A G 8: 104,594,904 K462E possibly damaging Het
Plod1 A T 4: 147,913,290 L654* probably null Het
Ppp4r3b G T 11: 29,198,853 G25* probably null Het
Ptch1 T C 13: 63,511,918 D1307G probably benign Het
Ranbp17 A G 11: 33,217,361 V1034A probably benign Het
Rbl2 T A 8: 91,087,084 L319Q probably damaging Het
Retnlg A G 16: 48,872,892 T11A probably benign Het
Rfc3 A T 5: 151,642,916 F356Y possibly damaging Het
Rnf213 G T 11: 119,416,536 C674F probably benign Het
Shcbp1l A G 1: 153,428,665 K157E probably benign Het
Slc22a17 A G 14: 54,907,994 C233R probably damaging Het
Slc38a9 A G 13: 112,697,977 probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
St14 C A 9: 31,090,033 probably benign Het
Sympk G A 7: 19,042,625 V481M probably benign Het
Timeless T A 10: 128,243,334 L350Q probably damaging Het
Tnfrsf1a A G 6: 125,360,766 I229V probably benign Het
Ugt3a2 A T 15: 9,361,456 H106L probably benign Het
Zbtb45 A T 7: 13,006,277 C470* probably null Het
Other mutations in Lmf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00896:Lmf2 APN 15 89353336 missense probably benign 0.00
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
IGL02698:Lmf2 APN 15 89354154 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 unclassified probably null
R6785:Lmf2 UTSW 15 89352033 missense probably benign 0.43
R7301:Lmf2 UTSW 15 89355530 start gained probably benign
Posted On2015-04-16