Incidental Mutation 'R3956:Lmf1'
ID 310728
Institutional Source Beutler Lab
Gene Symbol Lmf1
Ensembl Gene ENSMUSG00000002279
Gene Name lipase maturation factor 1
Synonyms Tmem112, 2400010G15Rik
MMRRC Submission 040833-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3956 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 25798059-25881800 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 25873445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 317 (V317M)
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: V317M

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066682
Gene: ENSMUSG00000002279
AA Change: V317M

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: V317M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112340
Gene: ENSMUSG00000002279
AA Change: V317M

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 0.8099 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.5%
Validation Efficiency 100% (56/56)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A G 10: 29,100,805 (GRCm39) K393E possibly damaging Het
Aagab A G 9: 63,526,442 (GRCm39) E155G probably damaging Het
Abca16 A G 7: 120,126,975 (GRCm39) N1221S probably damaging Het
Acad11 A G 9: 103,963,351 (GRCm39) probably benign Het
Acsl1 T A 8: 46,987,495 (GRCm39) L693Q probably damaging Het
Adam2 G A 14: 66,295,059 (GRCm39) S262L probably damaging Het
B3gat1 A G 9: 26,668,324 (GRCm39) T305A possibly damaging Het
BC051076 A G 5: 88,112,110 (GRCm39) noncoding transcript Het
Ccni A G 5: 93,331,263 (GRCm39) L236S probably damaging Het
Ccnq C A 11: 78,641,849 (GRCm39) E214* probably null Het
Cdc45 A G 16: 18,624,180 (GRCm39) V119A probably benign Het
Clspn ACGGCGGCGGC A 4: 126,460,230 (GRCm39) probably null Het
Creld1 A G 6: 113,469,190 (GRCm39) D340G possibly damaging Het
Cyrib T C 15: 63,813,823 (GRCm39) Y158C probably damaging Het
Dipk1b C T 2: 26,525,579 (GRCm39) P171L probably benign Het
Dnah2 T A 11: 69,374,847 (GRCm39) I1417L probably benign Het
Efhc1 A C 1: 21,048,890 (GRCm39) K434N probably damaging Het
Evi5l T C 8: 4,241,358 (GRCm39) V297A possibly damaging Het
Fkbp8 T G 8: 70,987,517 (GRCm39) S376A probably damaging Het
Gfod1 A T 13: 43,354,538 (GRCm39) C146S probably damaging Het
Greb1 G T 12: 16,732,300 (GRCm39) P1554T probably damaging Het
Grip1 A T 10: 119,765,931 (GRCm39) I88F probably damaging Het
Hbq1a T C 11: 32,250,214 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Kmt2e A G 5: 23,701,023 (GRCm39) T121A probably benign Het
Mfsd2b A T 12: 4,916,848 (GRCm39) F194Y probably damaging Het
Mtmr3 A T 11: 4,441,138 (GRCm39) V504E probably damaging Het
Neb C T 2: 52,091,975 (GRCm39) V5030M possibly damaging Het
Nup210l A T 3: 90,100,361 (GRCm39) R1462S possibly damaging Het
Or5ac17 G A 16: 59,036,428 (GRCm39) Q183* probably null Het
Or5al1 A G 2: 85,990,282 (GRCm39) V144A probably benign Het
Or5al5 C T 2: 85,961,363 (GRCm39) V215I probably benign Het
Pmfbp1 A G 8: 110,256,801 (GRCm39) S502G probably benign Het
Prb1c G T 6: 132,338,814 (GRCm39) Q135K unknown Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Qng1 A G 13: 58,532,203 (GRCm39) S118P probably damaging Het
Ralgapa2 C T 2: 146,277,884 (GRCm39) V426I probably damaging Het
Rasgrf2 A G 13: 92,130,974 (GRCm39) S696P probably damaging Het
Riok3 T A 18: 12,276,031 (GRCm39) Y242* probably null Het
Robo2 T G 16: 73,758,755 (GRCm39) Y672S probably damaging Het
Rsbn1 A G 3: 103,835,991 (GRCm39) H343R probably damaging Het
Sar1a A T 10: 61,522,172 (GRCm39) N88I possibly damaging Het
Sgcz A G 8: 37,993,346 (GRCm39) probably benign Het
Spmip9 A G 6: 70,890,469 (GRCm39) Y108H possibly damaging Het
Tbc1d9 C T 8: 83,960,161 (GRCm39) T138I probably damaging Het
Tlcd5 C A 9: 43,022,808 (GRCm39) C182F probably damaging Het
Tmem131l C A 3: 83,817,726 (GRCm39) C1257F probably damaging Het
Top6bl T A 19: 4,742,525 (GRCm39) T214S probably benign Het
Ttn A G 2: 76,799,593 (GRCm39) V429A possibly damaging Het
Umodl1 A G 17: 31,221,837 (GRCm39) T1280A probably benign Het
Xpnpep3 A G 15: 81,335,230 (GRCm39) 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
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
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'- GACTTGGGACCAGAACTGAG -3'
(R):5'- TTCATGAGGCTTAGGCAGGAG -3'

Sequencing Primer
(F):5'- CTTGGGACCAGAACTGAGAGAATG -3'
(R):5'- GCTTAGGCAGGAGGGTCATG -3'
Posted On 2015-04-29