Incidental Mutation 'R5152:Lmf1'
ID 395473
Institutional Source Beutler Lab
Gene Symbol Lmf1
Ensembl Gene ENSMUSG00000002279
Gene Name lipase maturation factor 1
Synonyms Tmem112, 2400010G15Rik
MMRRC Submission 042734-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5152 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 25798059-25881800 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 25874493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 458 (S458L)
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: S458L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000066682
Gene: ENSMUSG00000002279
AA Change: S458L

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: S458L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112340
Gene: ENSMUSG00000002279
AA Change: S458L

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 unknown
Transcript: ENSMUST00000141606
AA Change: S35L
SMART Domains Protein: ENSMUSP00000129263
Gene: ENSMUSG00000002279
AA Change: S35L

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 99% (83/84)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,139,846 (GRCm39) S1503P probably benign Het
Actn3 C A 19: 4,913,572 (GRCm39) V620F probably damaging Het
Adamtsl3 A G 7: 82,223,752 (GRCm39) K252E probably benign Het
Adgrg1 A G 8: 95,736,373 (GRCm39) Y509C probably damaging Het
Arhgef2 G A 3: 88,536,875 (GRCm39) probably null Het
Bod1l T C 5: 41,973,886 (GRCm39) E2476G probably benign Het
Capn3 T C 2: 120,331,811 (GRCm39) probably benign Het
Catsperz T C 19: 6,900,705 (GRCm39) T147A probably benign Het
Cc2d1b C A 4: 108,483,283 (GRCm39) A289E probably benign Het
Ccdc170 A C 10: 4,511,107 (GRCm39) H722P probably damaging Het
Cdk13 C A 13: 17,893,110 (GRCm39) A1358S probably benign Het
Cntn6 T A 6: 104,546,074 (GRCm39) probably benign Het
Coch A G 12: 51,642,225 (GRCm39) N66D probably benign Het
Col12a1 A G 9: 79,564,030 (GRCm39) S1732P probably damaging Het
Copa T A 1: 171,945,628 (GRCm39) V917E probably benign Het
Csmd2 C A 4: 128,445,828 (GRCm39) N3299K probably benign Het
Cyp2c67 A T 19: 39,627,132 (GRCm39) F233I probably benign Het
D630039A03Rik T A 4: 57,910,434 (GRCm39) H126L probably damaging Het
Ddx46 T C 13: 55,806,843 (GRCm39) L492P probably damaging Het
Dpysl3 C T 18: 43,571,145 (GRCm39) G43D probably benign Het
Enpp5 C T 17: 44,392,024 (GRCm39) P151L probably damaging Het
Exoc3l4 T C 12: 111,397,327 (GRCm39) probably benign Het
Faap100 T A 11: 120,268,458 (GRCm39) E105V possibly damaging Het
Flg2 C A 3: 93,122,284 (GRCm39) P1485T unknown Het
Fmo5 A G 3: 97,549,078 (GRCm39) Y242C probably benign Het
Fsip2 C A 2: 82,808,916 (GRCm39) T1745N probably benign Het
Gata4 T A 14: 63,478,570 (GRCm39) N10Y probably damaging Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Gm4787 A C 12: 81,425,451 (GRCm39) S236A probably benign Het
Golga7 A C 8: 23,735,965 (GRCm39) S94A probably benign Het
Gpbp1 A G 13: 111,589,815 (GRCm39) probably benign Het
Grm1 A G 10: 10,955,619 (GRCm39) Y222H probably benign Het
Gstcd A G 3: 132,790,717 (GRCm39) Y17H possibly damaging Het
Hephl1 C A 9: 14,991,481 (GRCm39) D586Y probably damaging Het
Hpn C A 7: 30,799,261 (GRCm39) V35L probably damaging Het
Il23r T A 6: 67,400,725 (GRCm39) N535I probably damaging Het
Inpp4a T C 1: 37,397,616 (GRCm39) I45T possibly damaging Het
Itgae G C 11: 73,021,821 (GRCm39) G901R probably damaging Het
Kif28 T C 1: 179,530,103 (GRCm39) D686G probably damaging Het
Kit A G 5: 75,781,507 (GRCm39) E312G probably benign Het
Lamb2 C A 9: 108,364,937 (GRCm39) S1230R probably benign Het
Lars1 A T 18: 42,361,842 (GRCm39) D588E possibly damaging Het
Lgr4 T A 2: 109,830,948 (GRCm39) F292I probably damaging Het
Lpin2 T A 17: 71,552,154 (GRCm39) C787S probably damaging Het
Ms4a4a A C 19: 11,365,676 (GRCm39) I138L probably benign Het
Mterf1a A T 5: 3,940,984 (GRCm39) F295I probably damaging Het
Muc4 A T 16: 32,577,432 (GRCm39) K241* probably null Het
Muc5b T C 7: 141,419,268 (GRCm39) F4017S possibly damaging Het
Nfkbil1 T C 17: 35,440,384 (GRCm39) probably benign Het
Or10d5j T C 9: 39,868,202 (GRCm39) T22A probably benign Het
Or4x6 A G 2: 89,949,465 (GRCm39) L159P probably damaging Het
Or8g21 A T 9: 38,906,473 (GRCm39) V86E possibly damaging Het
Osgep T C 14: 51,155,315 (GRCm39) D81G probably damaging Het
Otos A G 1: 92,572,116 (GRCm39) F70S probably damaging Het
Pcdhb2 T A 18: 37,429,179 (GRCm39) V384D probably damaging Het
Ppp1r10 C T 17: 36,240,144 (GRCm39) P514S probably damaging Het
Pramel14 G A 4: 143,720,830 (GRCm39) P37L probably damaging Het
Prdm16 A G 4: 154,430,559 (GRCm39) Y309H probably damaging Het
Rap1gds1 A T 3: 138,661,962 (GRCm39) D382E probably damaging Het
Reln A G 5: 22,153,627 (GRCm39) F2226L probably damaging Het
Rmi2 C T 16: 10,657,765 (GRCm39) T125M probably damaging Het
Setd1a C T 7: 127,383,197 (GRCm39) T231I probably benign Het
Sftpa1 G A 14: 40,856,309 (GRCm39) G218D probably damaging Het
Shcbp1 A T 8: 4,786,138 (GRCm39) F655I probably damaging Het
Slc5a7 T C 17: 54,585,861 (GRCm39) I319V possibly damaging Het
Sp140l2 G A 1: 85,239,581 (GRCm39) P19S probably benign Het
Spata31d1c C T 13: 65,183,409 (GRCm39) T317I probably damaging Het
Speg C T 1: 75,404,742 (GRCm39) P2845S possibly damaging Het
Synpo2 A G 3: 123,029,550 (GRCm39) probably null Het
Tdpoz9 T C 3: 93,957,451 (GRCm39) probably benign Het
Tdrd7 T A 4: 46,013,191 (GRCm39) S644T probably damaging Het
Tmem182 T A 1: 40,877,460 (GRCm39) Y112N probably damaging Het
Usp45 T A 4: 21,824,815 (GRCm39) N522K probably benign Het
Vnn3 A T 10: 23,740,237 (GRCm39) Y180F probably benign Het
Wnk1 C T 6: 119,979,241 (GRCm39) R282Q possibly damaging Het
Xrn1 A T 9: 95,846,118 (GRCm39) D57V probably benign Het
Zfp831 T C 2: 174,486,357 (GRCm39) V344A probably benign 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
R4293: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
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'- ACTTTTGGGAAGCATGAGCCC -3'
(R):5'- CTGAGCTATCACAGGAACCTTTC -3'

Sequencing Primer
(F):5'- AGGCCCTCTCCACCTGG -3'
(R):5'- TTTCCCAGGCAGGTCTAGG -3'
Posted On 2016-06-21