Incidental Mutation 'IGL02053:Cept1'
ID 185141
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02053
Quality Score
Status
Chromosome 3
Chromosomal Location 106409576-106455118 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106440712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 149 (L149Q)
Ref Sequence ENSEMBL: ENSMUSP00000142097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039153] [ENSMUST00000068301] [ENSMUST00000121231] [ENSMUST00000137530] [ENSMUST00000148269] [ENSMUST00000192438]
AlphaFold Q8BGS7
Predicted Effect probably damaging
Transcript: ENSMUST00000039153
AA Change: L149Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037277
Gene: ENSMUSG00000040774
AA Change: L149Q

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: L149Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065743
Gene: ENSMUSG00000040774
AA Change: L149Q

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: L149Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112509
Gene: ENSMUSG00000040774
AA Change: L149Q

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: ENSMUST00000137530
SMART Domains Protein: ENSMUSP00000115898
Gene: ENSMUSG00000040774

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000148269
AA Change: L149Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118343
Gene: ENSMUSG00000040774
AA Change: L149Q

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 81 178 8.8e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000192438
AA Change: L149Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142097
Gene: ENSMUSG00000040774
AA Change: L149Q

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 81 215 2.3e-20 PFAM
transmembrane domain 227 246 N/A INTRINSIC
Coding Region Coverage
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 T C 17: 43,761,058 (GRCm39) S918P possibly damaging Het
AY358078 G T 14: 52,043,009 (GRCm39) E232D unknown Het
Baz1b C A 5: 135,271,320 (GRCm39) P1301Q probably benign Het
Btn2a2 T C 13: 23,662,990 (GRCm39) D311G probably damaging Het
Clec2m T C 6: 129,303,725 (GRCm39) Q80R probably benign Het
Col6a4 T A 9: 105,940,294 (GRCm39) D1212V possibly damaging Het
Cyp2j8 T C 4: 96,358,891 (GRCm39) I343V probably damaging Het
Dapk2 A G 9: 66,128,027 (GRCm39) I102V probably benign Het
Dntt A G 19: 41,034,713 (GRCm39) T321A probably benign Het
Entrep2 C T 7: 64,469,590 (GRCm39) G53R probably damaging Het
Ezh1 T C 11: 101,090,769 (GRCm39) probably benign Het
Fbxw5 T C 2: 25,393,453 (GRCm39) V18A probably damaging Het
Fgd5 T A 6: 92,030,225 (GRCm39) C1109S probably benign Het
Ms4a6c A G 19: 11,455,586 (GRCm39) I132V probably benign Het
Ncoa3 T C 2: 165,896,754 (GRCm39) L515P probably damaging Het
Nfic A G 10: 81,256,385 (GRCm39) V115A probably damaging Het
P4ha2 A G 11: 54,008,413 (GRCm39) T207A probably benign Het
Pde10a G T 17: 9,193,601 (GRCm39) V732L probably damaging Het
Pfas A T 11: 68,883,779 (GRCm39) L626Q probably damaging Het
Plekha6 A G 1: 133,200,230 (GRCm39) N270D probably damaging Het
Prdm10 T C 9: 31,272,144 (GRCm39) S977P probably benign Het
Ptprm A G 17: 67,000,836 (GRCm39) L1073P probably damaging Het
Rai14 A C 15: 10,633,242 (GRCm39) H49Q probably benign Het
Ros1 T A 10: 52,038,816 (GRCm39) I394F probably damaging Het
Sec14l1 C T 11: 117,047,738 (GRCm39) probably benign Het
Sema5a A G 15: 32,550,413 (GRCm39) I151V probably benign Het
Tet2 T A 3: 133,194,284 (GRCm39) N50I possibly damaging Het
Tubal3 A C 13: 3,983,159 (GRCm39) D313A probably damaging Het
Usp45 A G 4: 21,824,553 (GRCm39) N483S 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
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
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
Posted On 2014-05-07