Incidental Mutation 'R6858:Cept1'
ID 535361
Institutional Source Beutler Lab
Gene Symbol Cept1
Ensembl Gene ENSMUSG00000040774
Gene Name choline/ethanolaminephosphotransferase 1
Synonyms 9930118K05Rik
MMRRC Submission 044960-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # R6858 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 106409576-106455118 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 106420195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039153] [ENSMUST00000068301] [ENSMUST00000121231] [ENSMUST00000192438]
AlphaFold Q8BGS7
Predicted Effect probably benign
Transcript: ENSMUST00000039153
SMART Domains Protein: ENSMUSP00000037277
Gene: ENSMUSG00000040774

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 damaging
Transcript: ENSMUST00000068301
AA Change: V213E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065743
Gene: ENSMUSG00000040774
AA Change: V213E

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 81 328 3.2e-21 PFAM
transmembrane domain 370 389 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121231
AA Change: V213E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112509
Gene: ENSMUSG00000040774
AA Change: V213E

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 null
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 96% (49/51)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldob T C 4: 49,538,796 (GRCm39) T241A probably benign Het
Arid4a A G 12: 71,070,283 (GRCm39) I65V probably benign Het
Bhmt2 C T 13: 93,807,948 (GRCm39) E47K probably damaging Het
Bpifa3 G A 2: 153,979,514 (GRCm39) G213D probably benign Het
C4b C G 17: 34,948,805 (GRCm39) A1548P probably damaging Het
Ccdc39 A G 3: 33,874,017 (GRCm39) V605A probably damaging Het
Cntrl T C 2: 35,052,107 (GRCm39) probably null Het
Col3a1 A G 1: 45,385,144 (GRCm39) D87G probably damaging Het
Crim1 A T 17: 78,623,056 (GRCm39) E418V probably damaging Het
Crtac1 T C 19: 42,307,174 (GRCm39) I196M possibly damaging Het
Crtap T C 9: 114,209,084 (GRCm39) Y320C probably damaging Het
Cttnbp2 A G 6: 18,448,452 (GRCm39) V27A probably damaging Het
Cyp2c69 G A 19: 39,866,009 (GRCm39) L195F probably benign Het
Cyp2d26 G A 15: 82,678,284 (GRCm39) R31C probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fign G T 2: 63,810,157 (GRCm39) T371K probably benign Het
Fryl T C 5: 73,222,375 (GRCm39) T2069A probably damaging Het
Gm3486 A G 14: 41,210,322 (GRCm39) I53T probably damaging Het
Gprc5d T C 6: 135,093,313 (GRCm39) N198S possibly damaging Het
Ighv1-42 A G 12: 114,900,966 (GRCm39) S40P probably damaging Het
Itga8 A G 2: 12,204,892 (GRCm39) V515A probably benign Het
Kidins220 A T 12: 25,058,542 (GRCm39) I523L possibly damaging Het
Lmx1a A T 1: 167,660,450 (GRCm39) N245I probably damaging Het
Med22 T C 2: 26,795,949 (GRCm39) D157G possibly damaging Het
Ola1 T C 2: 72,927,574 (GRCm39) H335R probably damaging Het
Or1a1 A T 11: 74,086,925 (GRCm39) M199L probably benign Het
Or4c12 A G 2: 89,774,087 (GRCm39) I124T probably damaging Het
Or6c213 A G 10: 129,574,333 (GRCm39) F151S probably damaging Het
Or7e166 T C 9: 19,624,765 (GRCm39) I214T probably damaging Het
Or8h9 A G 2: 86,789,034 (GRCm39) I256T probably benign Het
Pde1a T A 2: 79,959,502 (GRCm39) probably benign Het
Pdgfrb G A 18: 61,198,219 (GRCm39) G304D probably benign Het
Potegl T C 2: 23,102,676 (GRCm39) V138A possibly damaging Het
Prune2 T A 19: 17,095,470 (GRCm39) C325S possibly damaging Het
Ptk2b T C 14: 66,450,847 (GRCm39) I40V probably damaging Het
Qrich1 A G 9: 108,411,333 (GRCm39) D286G probably damaging Het
Scn5a T C 9: 119,321,156 (GRCm39) I1469V probably benign Het
Serpina3k G A 12: 104,311,504 (GRCm39) A361T possibly damaging Het
Slc25a23 A G 17: 57,365,171 (GRCm39) Y73H probably damaging Het
Tmco3 A G 8: 13,363,924 (GRCm39) D82G probably damaging Het
Trbv28 G T 6: 41,248,624 (GRCm39) M51I probably damaging Het
Unc13b A T 4: 43,165,828 (GRCm39) H204L possibly damaging Het
Vamp5 G A 6: 72,357,424 (GRCm39) probably benign Het
Vmn1r25 T C 6: 57,955,996 (GRCm39) S98G probably benign Het
Vmn2r2 A G 3: 64,044,915 (GRCm39) F77S probably damaging Het
Vmn2r79 A T 7: 86,686,580 (GRCm39) M654L probably benign Het
Zfp985 A T 4: 147,667,764 (GRCm39) K211* probably null Het
Zwilch C T 9: 64,060,869 (GRCm39) D328N probably damaging 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
R3688:Cept1 UTSW 3 106,427,331 (GRCm39) missense probably benign 0.00
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
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 PCR Primer
(F):5'- TCTCAATGGCCTTCAAAGCAC -3'
(R):5'- ACTTCAGACTGTGTAGCTATGC -3'

Sequencing Primer
(F):5'- TGGCCTTCAAAGCACACTTAG -3'
(R):5'- GTAGCTATGCAATGTAATTCTCTGC -3'
Posted On 2018-09-12