Incidental Mutation 'IGL02698:Lmf2'
ID304038
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: 0.219) question?
Stock #IGL02698
Quality Score
Status
Chromosome15
Chromosomal Location89351004-89355659 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 89354154 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 174 (L174R)
Ref Sequence ENSEMBL: ENSMUSP00000023283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023283] [ENSMUST00000036987] [ENSMUST00000074552] [ENSMUST00000088717] [ENSMUST00000145259] [ENSMUST00000229111]
Predicted Effect probably damaging
Transcript: ENSMUST00000023283
AA Change: L174R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023283
Gene: ENSMUSG00000022614
AA Change: L174R

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 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: 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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arpp21 T A 9: 112,185,744 probably benign Het
Car8 A T 4: 8,185,598 I186N probably benign Het
Ccdc174 G A 6: 91,890,853 S183N probably benign Het
Ccdc66 T A 14: 27,490,792 K525* probably null Het
Cebpz A G 17: 78,935,574 V217A probably benign Het
Cfap36 C A 11: 29,247,014 probably null Het
Cpne4 T C 9: 105,032,785 V527A probably damaging Het
Crh T G 3: 19,694,190 D96A possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dcp1a A T 14: 30,505,542 probably benign Het
Ddhd1 A T 14: 45,605,206 probably benign Het
Dis3l2 C T 1: 87,048,829 probably benign Het
Dopey1 T C 9: 86,524,359 probably benign Het
Etv3 A G 3: 87,536,578 T490A possibly damaging Het
Fastkd2 A G 1: 63,747,999 T531A probably benign Het
Fat1 C T 8: 45,023,164 A1749V probably benign Het
Fgfr1 T A 8: 25,573,608 L761* probably null Het
Gcc2 A G 10: 58,271,290 K683E possibly damaging Het
Gm17677 T C 9: 35,741,120 probably benign Het
Gm5117 C T 8: 31,739,739 noncoding transcript Het
Hif1a T C 12: 73,930,771 probably null Het
Inha A G 1: 75,509,883 E274G probably damaging Het
Itih2 G T 2: 10,130,501 P26H probably damaging Het
Kif23 G A 9: 61,925,001 T620I possibly damaging Het
Klhl30 T C 1: 91,353,707 F10S probably damaging Het
Kmt2b T C 7: 30,578,693 probably benign Het
Med13l T C 5: 118,762,829 L2216P probably damaging Het
Mmp1b T A 9: 7,384,877 L257F probably damaging Het
Net1 A G 13: 3,887,569 probably null Het
Nfasc A G 1: 132,634,737 V100A probably benign Het
Nr4a2 A G 2: 57,108,160 F535S probably damaging Het
Ntn4 G T 10: 93,644,659 A45S probably benign Het
Olfr1141 T A 2: 87,753,844 K50* probably null Het
Olfr1197 T A 2: 88,729,471 I43F probably damaging Het
Olfr1386 T A 11: 49,470,863 F237L probably benign Het
Olfr243 T C 7: 103,717,278 V228A probably damaging Het
Olfr25 A G 9: 38,330,210 T208A probably benign Het
Pappa A T 4: 65,181,020 E592V probably damaging Het
Pi4ka A T 16: 17,291,168 I1630N probably damaging Het
Ptprb A G 10: 116,363,280 D1997G probably benign Het
Rc3h2 A T 2: 37,405,300 S235T probably damaging Het
S1pr1 T A 3: 115,712,097 K283* probably null Het
Scn5a T A 9: 119,521,097 T904S probably damaging Het
Sema6d T C 2: 124,653,723 L30P possibly damaging Het
Slc26a7 A C 4: 14,593,867 S83A possibly damaging Het
Slco1a6 C A 6: 142,103,011 G348* probably null Het
Srgap3 C T 6: 112,746,928 V524I probably damaging Het
Stxbp3-ps A T 19: 9,558,324 noncoding transcript Het
Sv2b C T 7: 75,140,978 probably null Het
Sympk T C 7: 19,045,634 I663T probably benign Het
Ttn C A 2: 76,944,771 V1976L probably damaging Het
Uqcrc1 T C 9: 108,947,943 probably null Het
Vmn2r111 T C 17: 22,571,245 Y260C probably damaging 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
IGL02588:Lmf2 APN 15 89355406 unclassified probably null
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
R8110:Lmf2 UTSW 15 89352358 critical splice donor site probably null
Posted On2015-04-16