Incidental Mutation 'IGL01145:Pemt'
ID52387
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pemt
Ensembl Gene ENSMUSG00000000301
Gene Namephosphatidylethanolamine N-methyltransferase
SynonymsPempt2, Pempt
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01145
Quality Score
Status
Chromosome11
Chromosomal Location59970614-60046489 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 59983467 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 62 (L62P)
Ref Sequence ENSEMBL: ENSMUSP00000116314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000310] [ENSMUST00000102692] [ENSMUST00000102693] [ENSMUST00000147422] [ENSMUST00000148512]
Predicted Effect probably damaging
Transcript: ENSMUST00000000310
AA Change: L62P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000310
Gene: ENSMUSG00000000301
AA Change: L62P

DomainStartEndE-ValueType
transmembrane domain 15 32 N/A INTRINSIC
Pfam:PEMT 88 192 1.5e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102692
AA Change: L62P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099753
Gene: ENSMUSG00000000301
AA Change: L62P

DomainStartEndE-ValueType
transmembrane domain 15 32 N/A INTRINSIC
Pfam:PEMT 88 192 1.5e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102693
AA Change: L99P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099754
Gene: ENSMUSG00000000301
AA Change: L99P

DomainStartEndE-ValueType
transmembrane domain 51 70 N/A INTRINSIC
Pfam:PEMT 125 229 1.2e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146461
Predicted Effect probably damaging
Transcript: ENSMUST00000147422
AA Change: L62P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116314
Gene: ENSMUSG00000000301
AA Change: L62P

DomainStartEndE-ValueType
transmembrane domain 15 32 N/A INTRINSIC
Pfam:PEMT 53 105 8.9e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000148512
AA Change: L63P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120364
Gene: ENSMUSG00000000301
AA Change: L63P

DomainStartEndE-ValueType
transmembrane domain 47 69 N/A INTRINSIC
Pfam:PEMT 89 128 4.2e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylcholine (PC) is the most abundant mammalian phospholipid. This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver. Another distinct synthetic pathway in nucleated cells converts intracellular choline to phosphatidylcholine by a three-step process. The protein isoforms encoded by this gene localize to the endoplasmic reticulum and mitochondria-associated membranes. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype on normal diets but display liver abnormalities on choline deficient diets or high fat and cholesterol diets. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A C 7: 79,099,282 D1267A probably damaging Het
AI314180 A C 4: 58,811,501 D1467E probably null Het
Ankrd44 A G 1: 54,762,259 probably null Het
Arap3 T C 18: 37,989,179 M619V probably benign Het
C8b A T 4: 104,780,580 Y83F probably benign Het
Capn15 A G 17: 25,963,050 V595A probably damaging Het
Cbx1 A T 11: 96,801,566 D93V probably benign Het
Cyp2c66 G T 19: 39,170,961 E285D probably benign Het
Dkk4 T A 8: 22,625,386 V84D probably damaging Het
Dnah17 T A 11: 118,047,173 I3343F possibly damaging Het
Dus3l T C 17: 56,767,627 probably benign Het
Eif6 A G 2: 155,826,435 probably benign Het
Eya3 A G 4: 132,709,995 I389V probably damaging Het
Gm5868 A T 5: 72,586,204 probably null Het
Gm5916 A T 9: 36,120,702 D95E unknown Het
Gucy2d T A 7: 98,449,963 S329T probably benign Het
Hook3 C T 8: 26,059,344 M157I probably benign Het
Iapp C A 6: 142,303,364 R48S probably damaging Het
Ints11 A G 4: 155,885,126 Y153C probably damaging Het
Layn G A 9: 51,074,046 T62I probably benign Het
Llgl2 A G 11: 115,853,805 H876R probably benign Het
Lrp4 T C 2: 91,487,051 I840T probably damaging Het
Myo9a T A 9: 59,855,375 F796L probably benign Het
Naip1 A G 13: 100,409,121 S1300P probably benign Het
Nfat5 T A 8: 107,367,215 I602N probably damaging Het
Omt2a T C 9: 78,312,956 M64V probably benign Het
Pcnx T C 12: 81,992,035 S2025P probably damaging Het
Polrmt A G 10: 79,741,137 V399A probably benign Het
Rasgrp4 T C 7: 29,151,473 S77P possibly damaging Het
Rrm2b G A 15: 37,944,560 P111L probably damaging Het
Thap12 A G 7: 98,712,903 *121W probably null Het
Tnik A G 3: 28,604,167 probably benign Het
Trio G A 15: 27,818,167 probably benign Het
Zfhx4 A G 3: 5,245,347 E930G probably damaging Het
Zfp335 G T 2: 164,907,502 T299K probably benign Het
Other mutations in Pemt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02232:Pemt APN 11 59976854 missense probably damaging 0.97
R7253:Pemt UTSW 11 59971255 missense possibly damaging 0.95
R7537:Pemt UTSW 11 59976844 missense probably damaging 1.00
Posted On2013-06-21