Incidental Mutation 'IGL02232:Pemt'
ID285788
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? Not available question?
Stock #IGL02232
Quality Score
Status
Chromosome11
Chromosomal Location59970614-60046489 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 59976854 bp
ZygosityHeterozygous
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]
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: 12,664,525 V199A possibly damaging Het
Aco1 T C 4: 40,175,996 M210T probably damaging Het
Actr10 G A 12: 70,943,515 E114K probably benign Het
Adam6b T C 12: 113,491,144 M527T probably benign Het
Ahi1 C T 10: 20,981,375 T623M probably damaging Het
Aldh8a1 T C 10: 21,395,646 W424R probably damaging Het
Apeh A T 9: 108,091,872 S299T probably benign Het
Bbs5 A C 2: 69,655,551 I147L probably benign Het
Bmp2k T G 5: 97,031,250 probably benign Het
C2cd6 A G 1: 59,062,492 F336S probably damaging Het
Ccdc129 A G 6: 55,967,937 T548A unknown Het
Cd274 T A 19: 29,382,538 L248M probably damaging Het
Chsy3 T A 18: 59,409,311 M507K possibly damaging Het
Clip2 T C 5: 134,503,130 N572S probably damaging Het
Commd9 A G 2: 101,900,979 T170A probably benign Het
Cpt1c G A 7: 44,960,156 S674L probably damaging Het
Dhx33 C A 11: 70,987,204 R671L probably damaging Het
Dnah5 G A 15: 28,299,240 E1583K probably damaging Het
Eed G T 7: 89,972,285 N51K probably damaging Het
Efcab14 A G 4: 115,760,064 probably benign Het
Ephb2 A C 4: 136,657,451 M884R probably damaging Het
Foxn2 G T 17: 88,463,051 A109S probably benign Het
Fut1 A T 7: 45,619,447 D220V probably damaging Het
Gm6468 C T 5: 95,281,207 noncoding transcript Het
Gm7964 A T 7: 83,756,307 noncoding transcript Het
Gm9772 C T 17: 22,007,050 probably benign Het
Golph3 G T 15: 12,349,492 M199I probably benign Het
Itpr1 A G 6: 108,417,923 N1666D probably damaging Het
Kif12 C T 4: 63,166,495 E529K probably benign Het
Lpp C T 16: 24,762,145 R204W probably damaging Het
Lrrc52 T A 1: 167,466,380 N112I probably damaging Het
Msi1 T A 5: 115,441,447 probably null Het
Nasp T G 4: 116,604,800 E170A probably damaging Het
Necab2 T A 8: 119,462,652 V187E probably damaging Het
Obscn T C 11: 59,038,978 E5790G probably damaging Het
Olfr461 A G 6: 40,544,046 L311P probably damaging Het
Olfr872 A T 9: 20,260,215 D125V probably damaging Het
Pard3b C T 1: 62,166,382 T445I probably damaging Het
Pcdh10 A G 3: 45,380,942 I564V probably benign Het
Pcdhb22 T A 18: 37,520,549 L690Q probably damaging Het
Plcl2 A G 17: 50,606,641 N226S possibly damaging Het
Ppp6r1 A G 7: 4,633,342 S750P probably damaging Het
Prtg T C 9: 72,851,489 V375A probably damaging Het
Psd3 A C 8: 67,904,145 M673R probably damaging Het
Ptprt T C 2: 161,530,517 I1392V probably damaging Het
Rlf G A 4: 121,182,614 T200I probably benign Het
Robo1 G A 16: 72,971,984 G479D possibly damaging Het
Rpe65 A G 3: 159,604,351 D87G possibly damaging Het
Sema3g T C 14: 31,221,224 V148A probably damaging Het
Sgms2 G A 3: 131,323,184 P341S probably benign Het
Skint7 A T 4: 111,982,028 Q173L possibly damaging Het
Slc2a9 G A 5: 38,436,670 A150V probably benign Het
Slc35c2 A G 2: 165,282,881 L58P probably damaging Het
Slc7a6 G A 8: 106,196,574 C495Y possibly damaging Het
Smurf1 G A 5: 144,886,438 P458L probably damaging Het
Spag1 C T 15: 36,221,564 T601I probably benign Het
Spink8 A T 9: 109,820,597 Q49L possibly damaging Het
Spout1 A T 2: 30,175,254 Y284N probably damaging Het
Srrm1 A T 4: 135,353,116 M1K probably null Het
Stxbp5l A G 16: 37,329,895 L116P probably damaging Het
Tlr9 T C 9: 106,224,937 F476L probably damaging Het
Tmem41b A G 7: 109,978,753 V108A probably damaging Het
Tra2b A G 16: 22,249,040 probably benign Het
Trio G T 15: 27,902,561 H271Q probably benign Het
Ttn A G 2: 76,892,919 probably benign Het
Usp51 A T X: 153,008,673 H421L probably damaging Het
Vmn2r29 A T 7: 7,241,811 W355R probably damaging Het
Vpreb1 T C 16: 16,868,739 N96D possibly damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zp3r C A 1: 130,596,667 C213F probably damaging Het
Other mutations in Pemt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01145:Pemt APN 11 59983467 missense probably damaging 1.00
R7253:Pemt UTSW 11 59971255 missense possibly damaging 0.95
Posted On2015-04-16