Incidental Mutation 'IGL02232:Pemt'
ID 285788
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pemt
Ensembl Gene ENSMUSG00000000301
Gene Name phosphatidylethanolamine N-methyltransferase
Synonyms Pempt, Pempt2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02232
Quality Score
Status
Chromosome 11
Chromosomal Location 59861440-59937315 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59867680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 115 (T115S)
Ref Sequence ENSEMBL: ENSMUSP00000120364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000310] [ENSMUST00000102692] [ENSMUST00000102693] [ENSMUST00000147422] [ENSMUST00000148512]
AlphaFold Q61907
Predicted Effect possibly damaging
Transcript: ENSMUST00000000310
AA Change: T114S

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000000310
Gene: ENSMUSG00000000301
AA Change: T114S

DomainStartEndE-ValueType
transmembrane domain 15 32 N/A INTRINSIC
Pfam:PEMT 88 192 1.5e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102692
AA Change: T114S

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099753
Gene: ENSMUSG00000000301
AA Change: T114S

DomainStartEndE-ValueType
transmembrane domain 15 32 N/A INTRINSIC
Pfam:PEMT 88 192 1.5e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102693
AA Change: T151S

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099754
Gene: ENSMUSG00000000301
AA Change: T151S

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 benign
Transcript: ENSMUST00000147422
SMART Domains Protein: ENSMUSP00000116314
Gene: ENSMUSG00000000301

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: T115S

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120364
Gene: ENSMUSG00000000301
AA Change: T115S

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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810030O07Rik A G X: 12,530,764 (GRCm39) V199A possibly damaging Het
Aco1 T C 4: 40,175,996 (GRCm39) M210T probably damaging Het
Actr10 G A 12: 70,990,289 (GRCm39) E114K probably benign Het
Adam6b T C 12: 113,454,764 (GRCm39) M527T probably benign Het
Ahi1 C T 10: 20,857,274 (GRCm39) T623M probably damaging Het
Aldh8a1 T C 10: 21,271,545 (GRCm39) W424R probably damaging Het
Apeh A T 9: 107,969,071 (GRCm39) S299T probably benign Het
Bbs5 A C 2: 69,485,895 (GRCm39) I147L probably benign Het
Bmp2k T G 5: 97,179,109 (GRCm39) probably benign Het
C2cd6 A G 1: 59,101,651 (GRCm39) F336S probably damaging Het
Cd274 T A 19: 29,359,938 (GRCm39) L248M probably damaging Het
Chsy3 T A 18: 59,542,383 (GRCm39) M507K possibly damaging Het
Clip2 T C 5: 134,531,984 (GRCm39) N572S probably damaging Het
Commd9 A G 2: 101,731,324 (GRCm39) T170A probably benign Het
Cpt1c G A 7: 44,609,580 (GRCm39) S674L probably damaging Het
Dhx33 C A 11: 70,878,030 (GRCm39) R671L probably damaging Het
Dnah5 G A 15: 28,299,386 (GRCm39) E1583K probably damaging Het
Eed G T 7: 89,621,493 (GRCm39) N51K probably damaging Het
Efcab14 A G 4: 115,617,261 (GRCm39) probably benign Het
Ephb2 A C 4: 136,384,762 (GRCm39) M884R probably damaging Het
Foxn2 G T 17: 88,770,479 (GRCm39) A109S probably benign Het
Fut1 A T 7: 45,268,871 (GRCm39) D220V probably damaging Het
Gm6468 C T 5: 95,429,066 (GRCm39) noncoding transcript Het
Gm7964 A T 7: 83,405,515 (GRCm39) noncoding transcript Het
Gm9772 C T 17: 22,226,031 (GRCm39) probably benign Het
Golph3 G T 15: 12,349,578 (GRCm39) M199I probably benign Het
Itpr1 A G 6: 108,394,884 (GRCm39) N1666D probably damaging Het
Itprid1 A G 6: 55,944,922 (GRCm39) T548A unknown Het
Kif12 C T 4: 63,084,732 (GRCm39) E529K probably benign Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Lrrc52 T A 1: 167,293,949 (GRCm39) N112I probably damaging Het
Msi1 T A 5: 115,579,506 (GRCm39) probably null Het
Nasp T G 4: 116,461,997 (GRCm39) E170A probably damaging Het
Necab2 T A 8: 120,189,391 (GRCm39) V187E probably damaging Het
Obscn T C 11: 58,929,804 (GRCm39) E5790G probably damaging Het
Or7e176 A T 9: 20,171,511 (GRCm39) D125V probably damaging Het
Or9a7 A G 6: 40,520,980 (GRCm39) L311P probably damaging Het
Pard3b C T 1: 62,205,541 (GRCm39) T445I probably damaging Het
Pcdh10 A G 3: 45,335,377 (GRCm39) I564V probably benign Het
Pcdhb22 T A 18: 37,653,602 (GRCm39) L690Q probably damaging Het
Plcl2 A G 17: 50,913,669 (GRCm39) N226S possibly damaging Het
Ppp6r1 A G 7: 4,636,341 (GRCm39) S750P probably damaging Het
Prtg T C 9: 72,758,771 (GRCm39) V375A probably damaging Het
Psd3 A C 8: 68,356,797 (GRCm39) M673R probably damaging Het
Ptprt T C 2: 161,372,437 (GRCm39) I1392V probably damaging Het
Rlf G A 4: 121,039,811 (GRCm39) T200I probably benign Het
Robo1 G A 16: 72,768,872 (GRCm39) G479D possibly damaging Het
Rpe65 A G 3: 159,309,988 (GRCm39) D87G possibly damaging Het
Sema3g T C 14: 30,943,181 (GRCm39) V148A probably damaging Het
Sgms2 G A 3: 131,116,833 (GRCm39) P341S probably benign Het
Skint7 A T 4: 111,839,225 (GRCm39) Q173L possibly damaging Het
Slc2a9 G A 5: 38,594,013 (GRCm39) A150V probably benign Het
Slc35c2 A G 2: 165,124,801 (GRCm39) L58P probably damaging Het
Slc7a6 G A 8: 106,923,206 (GRCm39) C495Y possibly damaging Het
Smurf1 G A 5: 144,823,248 (GRCm39) P458L probably damaging Het
Spag1 C T 15: 36,221,710 (GRCm39) T601I probably benign Het
Spink8 A T 9: 109,649,665 (GRCm39) Q49L possibly damaging Het
Spout1 A T 2: 30,065,266 (GRCm39) Y284N probably damaging Het
Srrm1 A T 4: 135,080,427 (GRCm39) M1K probably null Het
Stxbp5l A G 16: 37,150,257 (GRCm39) L116P probably damaging Het
Tlr9 T C 9: 106,102,136 (GRCm39) F476L probably damaging Het
Tmem41b A G 7: 109,577,960 (GRCm39) V108A probably damaging Het
Tra2b A G 16: 22,067,790 (GRCm39) probably benign Het
Trio G T 15: 27,902,647 (GRCm39) H271Q probably benign Het
Ttn A G 2: 76,723,263 (GRCm39) probably benign Het
Usp51 A T X: 151,791,669 (GRCm39) H421L probably damaging Het
Vmn2r29 A T 7: 7,244,810 (GRCm39) W355R probably damaging Het
Vpreb1a T C 16: 16,686,603 (GRCm39) N96D possibly damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zp3r C A 1: 130,524,404 (GRCm39) C213F probably damaging Het
Other mutations in Pemt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01145:Pemt APN 11 59,874,293 (GRCm39) missense probably damaging 1.00
R7253:Pemt UTSW 11 59,862,081 (GRCm39) missense possibly damaging 0.95
R7537:Pemt UTSW 11 59,867,670 (GRCm39) missense probably damaging 1.00
R8737:Pemt UTSW 11 59,874,285 (GRCm39) missense probably benign
R9799:Pemt UTSW 11 59,937,174 (GRCm39) missense possibly damaging 0.84
R9801:Pemt UTSW 11 59,874,287 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16