Incidental Mutation 'R3688:Cept1'
ID 473222
Institutional Source Beutler Lab
Gene Symbol Cept1
Ensembl Gene ENSMUSG00000040774
Gene Name choline/ethanolaminephosphotransferase 1
Synonyms 9930118K05Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # R3688 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 106409576-106455118 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 106427331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 236 (N236K)
Ref Sequence ENSEMBL: ENSMUSP00000037277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039153] [ENSMUST00000068301] [ENSMUST00000121231] [ENSMUST00000148269] [ENSMUST00000192438]
AlphaFold Q8BGS7
Predicted Effect probably benign
Transcript: ENSMUST00000039153
AA Change: N236K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000037277
Gene: ENSMUSG00000040774
AA Change: N236K

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 81 229 6.4e-23 PFAM
transmembrane domain 249 271 N/A INTRINSIC
transmembrane domain 281 303 N/A INTRINSIC
transmembrane domain 316 338 N/A INTRINSIC
transmembrane domain 370 389 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000068301
SMART Domains Protein: ENSMUSP00000065743
Gene: ENSMUSG00000040774

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 81 328 3.2e-21 PFAM
transmembrane domain 370 389 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121231
SMART Domains Protein: ENSMUSP00000112509
Gene: ENSMUSG00000040774

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 83 158 7.4e-18 PFAM
transmembrane domain 181 203 N/A INTRINSIC
transmembrane domain 213 235 N/A INTRINSIC
transmembrane domain 248 270 N/A INTRINSIC
transmembrane domain 285 304 N/A INTRINSIC
transmembrane domain 317 339 N/A INTRINSIC
transmembrane domain 370 389 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148269
SMART Domains Protein: ENSMUSP00000118343
Gene: ENSMUSG00000040774

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 81 178 8.8e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192438
SMART Domains Protein: ENSMUSP00000142097
Gene: ENSMUSG00000040774

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 81 215 2.3e-20 PFAM
transmembrane domain 227 246 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene codes for a choline/ethanolaminephosphotransferase, which functions in the synthesis of choline- or ethanolamine- containing phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
PHENOTYPE: Conditional homozygous knockout in skeletal muscle leads to improved glucose tolerance, increased insulin sensitivity and muscle weakness in mice fed a high fat diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,415,968 (GRCm39) I687T possibly damaging Het
A1cf T A 19: 31,888,569 (GRCm39) F100I probably damaging Het
Adam12 A T 7: 133,566,525 (GRCm39) Y308* probably null Het
Adam3 T C 8: 25,193,864 (GRCm39) T383A probably benign Het
Adcy8 T C 15: 64,743,556 (GRCm39) T351A probably damaging Het
Atp11c T C X: 59,327,004 (GRCm39) Y431C probably benign Het
Atp7b T C 8: 22,494,246 (GRCm39) H956R probably damaging Het
Bptf C A 11: 106,965,024 (GRCm39) R1275L probably benign Het
Col15a1 C T 4: 47,258,689 (GRCm39) T360I probably benign Het
Efcab6 G A 15: 83,755,479 (GRCm39) Q1323* probably null Het
Efl1 T A 7: 82,412,178 (GRCm39) S856T probably benign Het
Eftud2 T C 11: 102,735,027 (GRCm39) E624G probably damaging Het
Fat2 T C 11: 55,171,927 (GRCm39) T2929A probably damaging Het
Gm4884 A G 7: 40,692,910 (GRCm39) H293R possibly damaging Het
Hdac10 C T 15: 89,007,767 (GRCm39) probably null Het
Il17rd C A 14: 26,761,105 (GRCm39) N15K probably null Het
Kcnt1 C T 2: 25,784,371 (GRCm39) T258I probably damaging Het
Kif5a T G 10: 127,078,643 (GRCm39) N334T probably damaging Het
Ksr2 A G 5: 117,693,044 (GRCm39) Q164R probably damaging Het
Map4k4 T A 1: 40,024,331 (GRCm39) probably null Het
Naa80 T C 9: 107,460,549 (GRCm39) V148A possibly damaging Het
Or9a2 G T 6: 41,749,160 (GRCm39) Y24* probably null Het
Pard3b A G 1: 62,518,728 (GRCm39) T938A probably benign Het
Pcdhga6 T A 18: 37,841,594 (GRCm39) I438N probably damaging Het
Pfkm T A 15: 98,029,398 (GRCm39) N697K probably benign Het
Prr23a4 A T 9: 98,785,517 (GRCm39) M61L probably benign Het
Pus10 T C 11: 23,617,334 (GRCm39) F16L probably benign Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rangap1 A T 15: 81,602,963 (GRCm39) M154K possibly damaging Het
Slc25a17 A G 15: 81,211,485 (GRCm39) F177S probably benign Het
Slc34a2 G A 5: 53,222,174 (GRCm39) G289S probably benign Het
Strn4 A G 7: 16,556,506 (GRCm39) Y123C probably damaging Het
Swt1 A T 1: 151,267,240 (GRCm39) M647K probably damaging Het
Trpm5 A G 7: 142,632,193 (GRCm39) V872A probably damaging Het
Ubqln4 T C 3: 88,470,466 (GRCm39) S313P probably damaging Het
Vmn1r17 T A 6: 57,337,544 (GRCm39) T225S probably damaging Het
Vmn2r75 T A 7: 85,797,629 (GRCm39) H728L probably damaging Het
Vps33a T C 5: 123,673,274 (GRCm39) probably null Het
Vwde T A 6: 13,186,891 (GRCm39) R865S probably damaging Het
Zfp408 T A 2: 91,476,777 (GRCm39) M126L probably benign Het
Other mutations in Cept1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Cept1 APN 3 106,413,119 (GRCm39) missense possibly damaging 0.95
IGL01860:Cept1 APN 3 106,438,444 (GRCm39) intron probably benign
IGL02053:Cept1 APN 3 106,440,712 (GRCm39) missense probably damaging 1.00
IGL02351:Cept1 APN 3 106,446,504 (GRCm39) critical splice donor site probably null
IGL02358:Cept1 APN 3 106,446,504 (GRCm39) critical splice donor site probably null
IGL02568:Cept1 APN 3 106,411,035 (GRCm39) missense probably benign 0.03
IGL02960:Cept1 APN 3 106,446,712 (GRCm39) nonsense probably null
IGL03019:Cept1 APN 3 106,411,957 (GRCm39) missense probably damaging 1.00
IGL03182:Cept1 APN 3 106,411,866 (GRCm39) missense probably damaging 1.00
IGL03401:Cept1 APN 3 106,440,706 (GRCm39) missense probably damaging 1.00
R2128:Cept1 UTSW 3 106,420,195 (GRCm39) missense probably damaging 1.00
R2928:Cept1 UTSW 3 106,438,468 (GRCm39) missense probably benign 0.07
R4762:Cept1 UTSW 3 106,446,677 (GRCm39) nonsense probably null
R4861:Cept1 UTSW 3 106,413,048 (GRCm39) missense probably damaging 0.97
R4861:Cept1 UTSW 3 106,413,048 (GRCm39) missense probably damaging 0.97
R4890:Cept1 UTSW 3 106,413,123 (GRCm39) missense probably damaging 1.00
R5506:Cept1 UTSW 3 106,438,564 (GRCm39) missense probably benign 0.00
R5999:Cept1 UTSW 3 106,440,759 (GRCm39) missense probably damaging 1.00
R6106:Cept1 UTSW 3 106,410,992 (GRCm39) missense probably benign 0.00
R6478:Cept1 UTSW 3 106,440,761 (GRCm39) nonsense probably null
R6560:Cept1 UTSW 3 106,412,594 (GRCm39) missense possibly damaging 0.84
R6858:Cept1 UTSW 3 106,420,195 (GRCm39) splice site probably null
R7372:Cept1 UTSW 3 106,411,056 (GRCm39) missense probably benign 0.14
R8481:Cept1 UTSW 3 106,412,569 (GRCm39) missense probably benign
R8910:Cept1 UTSW 3 106,446,565 (GRCm39) missense probably benign
R8936:Cept1 UTSW 3 106,411,921 (GRCm39) missense possibly damaging 0.91
R9337:Cept1 UTSW 3 106,412,575 (GRCm39) missense possibly damaging 0.95
Predicted Primers
Posted On 2017-04-14