Incidental Mutation 'R4293:Lmf1'
ID 323189
Institutional Source Beutler Lab
Gene Symbol Lmf1
Ensembl Gene ENSMUSG00000002279
Gene Name lipase maturation factor 1
Synonyms Tmem112, 2400010G15Rik
MMRRC Submission 041082-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4293 (G1)
Quality Score 209
Status Validated
Chromosome 17
Chromosomal Location 25798059-25881800 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25873455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 320 (L320P)
Ref Sequence ENSEMBL: ENSMUSP00000112340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063344] [ENSMUST00000116641] [ENSMUST00000137201]
AlphaFold Q3U3R4
Predicted Effect probably damaging
Transcript: ENSMUST00000063344
AA Change: L320P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000066682
Gene: ENSMUSG00000002279
AA Change: L320P

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
transmembrane domain 97 119 N/A INTRINSIC
transmembrane domain 129 151 N/A INTRINSIC
Pfam:LMF1 169 551 2.3e-142 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000116641
AA Change: L320P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112340
Gene: ENSMUSG00000002279
AA Change: L320P

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
transmembrane domain 97 119 N/A INTRINSIC
transmembrane domain 129 151 N/A INTRINSIC
Pfam:LMF1 169 553 1.2e-148 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137201
Predicted Effect probably benign
Transcript: ENSMUST00000141606
SMART Domains Protein: ENSMUSP00000129263
Gene: ENSMUSG00000002279

DomainStartEndE-ValueType
Pfam:LMF1 2 90 9.8e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154842
SMART Domains Protein: ENSMUSP00000119563
Gene: ENSMUSG00000002279

DomainStartEndE-ValueType
transmembrane domain 47 69 N/A INTRINSIC
transmembrane domain 94 116 N/A INTRINSIC
transmembrane domain 126 148 N/A INTRINSIC
Pfam:LMF1 166 298 2.4e-60 PFAM
Meta Mutation Damage Score 0.6717 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 98% (60/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene resides in the endoplasmic reticulum, and is involved in the maturation and transport of lipoprotein lipase through the secretory pathway. Mutations in this gene are associated with combined lipase deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mutations in this gene result in neonatal death following progressive cyanosis, combined lipase deficiency, and hypertriglyceridemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 T C 19: 4,915,468 (GRCm39) E428G probably benign Het
Arfgef2 T C 2: 166,732,211 (GRCm39) I1600T probably benign Het
Arid3b A T 9: 57,697,713 (GRCm39) probably benign Het
Asgr2 C A 11: 69,989,057 (GRCm39) T167K probably benign Het
Atf6b T A 17: 34,871,648 (GRCm39) M428K probably benign Het
Atpaf1 A T 4: 115,645,556 (GRCm39) M142L probably benign Het
Bivm A T 1: 44,177,793 (GRCm39) R364S probably damaging Het
Bms1 T C 6: 118,382,308 (GRCm39) probably null Het
Brwd1 G A 16: 95,818,804 (GRCm39) P1343S probably damaging Het
Cdca2 T C 14: 67,952,299 (GRCm39) D24G probably benign Het
Celsr2 T C 3: 108,300,993 (GRCm39) R2767G probably benign Het
Cip2a T A 16: 48,833,612 (GRCm39) F571Y probably benign Het
Cyp2c55 A T 19: 39,000,235 (GRCm39) I145F probably damaging Het
Ddx18 T C 1: 121,489,121 (GRCm39) T309A probably benign Het
Dlg3 A T X: 99,840,288 (GRCm39) probably benign Het
Fbf1 A G 11: 116,039,720 (GRCm39) L713P probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Fnbp1 A G 2: 30,995,362 (GRCm39) F24S probably damaging Het
Gm16686 A T 4: 88,673,710 (GRCm39) probably benign Het
Gmps A G 3: 63,898,040 (GRCm39) M275V probably damaging Het
Igdcc4 A G 9: 65,031,892 (GRCm39) probably null Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Kif18a T C 2: 109,123,398 (GRCm39) V224A probably benign Het
Lbr C T 1: 181,648,267 (GRCm39) C398Y probably damaging Het
Mapkapk3 T C 9: 107,136,131 (GRCm39) probably benign Het
Mettl18 A G 1: 163,824,171 (GRCm39) D164G probably damaging Het
Myo5a A T 9: 75,051,453 (GRCm39) T349S probably benign Het
Or1ad6 T C 11: 50,860,253 (GRCm39) M136T probably damaging Het
Or8d2b A G 9: 38,788,609 (GRCm39) I46V probably damaging Het
Pcdhb5 T A 18: 37,455,734 (GRCm39) S705T possibly damaging Het
Phf14 C T 6: 11,987,096 (GRCm39) P559S probably damaging Het
Pik3c3 G A 18: 30,477,043 (GRCm39) A855T probably damaging Het
Plpp4 A G 7: 128,909,356 (GRCm39) E22G probably damaging Het
Rev1 A T 1: 38,147,500 (GRCm39) D13E possibly damaging Het
Sec16a A G 2: 26,312,167 (GRCm39) Y1998H probably benign Het
Slc4a5 C T 6: 83,237,511 (GRCm39) R165C probably damaging Het
Slfn10-ps T C 11: 82,926,260 (GRCm39) noncoding transcript Het
Slfn9 T C 11: 82,873,334 (GRCm39) N523S probably benign Het
Spata13 T A 14: 60,947,004 (GRCm39) M684K probably damaging Het
Srsf6 T C 2: 162,776,636 (GRCm39) probably benign Het
Stk32c T C 7: 138,700,704 (GRCm39) probably null Het
Tenm3 T C 8: 48,848,693 (GRCm39) T49A probably damaging Het
Tep1 T C 14: 51,084,318 (GRCm39) I954V probably benign Het
Tmem237 A G 1: 59,158,995 (GRCm39) probably benign Het
Vmn2r101 A T 17: 19,832,303 (GRCm39) R766S probably damaging Het
Vwce A G 19: 10,636,996 (GRCm39) T693A probably benign Het
Xpr1 A G 1: 155,188,542 (GRCm39) F366S possibly damaging Het
Zfp317 A G 9: 19,557,990 (GRCm39) probably null Het
Other mutations in Lmf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03153:Lmf1 APN 17 25,804,624 (GRCm39) missense possibly damaging 0.51
R0117:Lmf1 UTSW 17 25,874,965 (GRCm39) unclassified probably benign
R1757:Lmf1 UTSW 17 25,874,184 (GRCm39) missense probably damaging 1.00
R1906:Lmf1 UTSW 17 25,831,309 (GRCm39) missense probably damaging 0.99
R2389:Lmf1 UTSW 17 25,873,445 (GRCm39) missense probably damaging 1.00
R2446:Lmf1 UTSW 17 25,873,445 (GRCm39) missense probably damaging 1.00
R3797:Lmf1 UTSW 17 25,873,445 (GRCm39) missense probably damaging 1.00
R3798:Lmf1 UTSW 17 25,873,445 (GRCm39) missense probably damaging 1.00
R3855:Lmf1 UTSW 17 25,873,445 (GRCm39) missense probably damaging 1.00
R3953:Lmf1 UTSW 17 25,873,445 (GRCm39) missense probably damaging 1.00
R3955:Lmf1 UTSW 17 25,873,445 (GRCm39) missense probably damaging 1.00
R3956:Lmf1 UTSW 17 25,873,445 (GRCm39) missense probably damaging 1.00
R4290:Lmf1 UTSW 17 25,873,455 (GRCm39) missense probably damaging 1.00
R4291:Lmf1 UTSW 17 25,873,455 (GRCm39) missense probably damaging 1.00
R4636:Lmf1 UTSW 17 25,873,445 (GRCm39) missense probably damaging 1.00
R4698:Lmf1 UTSW 17 25,798,324 (GRCm39) missense probably damaging 0.98
R4791:Lmf1 UTSW 17 25,873,445 (GRCm39) missense probably damaging 1.00
R4792:Lmf1 UTSW 17 25,873,445 (GRCm39) missense probably damaging 1.00
R4968:Lmf1 UTSW 17 25,804,592 (GRCm39) missense probably damaging 1.00
R4997:Lmf1 UTSW 17 25,807,650 (GRCm39) nonsense probably null
R5047:Lmf1 UTSW 17 25,850,812 (GRCm39) intron probably benign
R5152:Lmf1 UTSW 17 25,874,493 (GRCm39) missense probably damaging 0.99
R5419:Lmf1 UTSW 17 25,881,610 (GRCm39) missense possibly damaging 0.94
R6162:Lmf1 UTSW 17 25,831,368 (GRCm39) missense probably benign 0.00
R6693:Lmf1 UTSW 17 25,864,252 (GRCm39) missense probably benign 0.00
R7583:Lmf1 UTSW 17 25,874,423 (GRCm39) missense
R7642:Lmf1 UTSW 17 25,873,445 (GRCm39) missense probably damaging 1.00
R7667:Lmf1 UTSW 17 25,873,582 (GRCm39) critical splice donor site probably null
R7671:Lmf1 UTSW 17 25,798,323 (GRCm39) missense possibly damaging 0.75
R7818:Lmf1 UTSW 17 25,881,565 (GRCm39) missense probably benign 0.30
R8851:Lmf1 UTSW 17 25,804,680 (GRCm39) nonsense probably null
R9181:Lmf1 UTSW 17 25,804,718 (GRCm39) missense probably damaging 0.99
R9524:Lmf1 UTSW 17 25,881,514 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTGGGACCAGAACTGAGAG -3'
(R):5'- TTTCATGAGGCTTAGGCAGGAG -3'

Sequencing Primer
(F):5'- CTTGGGACCAGAACTGAGAGAATGG -3'
(R):5'- GCTTAGGCAGGAGGGTCATG -3'
Posted On 2015-06-20