Incidental Mutation 'IGL02358:Cept1'
ID290395
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cept1
Ensembl Gene ENSMUSG00000040774
Gene Namecholine/ethanolaminephosphotransferase 1
Synonyms9930118K05Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.953) question?
Stock #IGL02358
Quality Score
Status
Chromosome3
Chromosomal Location106502260-106547802 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 106539188 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039153] [ENSMUST00000068301] [ENSMUST00000121231] [ENSMUST00000137530] [ENSMUST00000141525] [ENSMUST00000148269] [ENSMUST00000192438]
Predicted Effect probably null
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 null
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 null
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: ENSMUST00000137530
SMART Domains Protein: ENSMUSP00000115898
Gene: ENSMUSG00000040774

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141525
Predicted Effect probably null
Transcript: ENSMUST00000148269
SMART Domains Protein: ENSMUSP00000118343
Gene: ENSMUSG00000040774

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 81 178 8.8e-23 PFAM
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
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,654,055 T448A possibly damaging Het
Adamtsl1 T A 4: 86,156,873 probably null Het
Adgra3 A G 5: 50,058,558 V73A probably benign Het
Adgre4 G A 17: 55,843,209 R600Q probably benign Het
Aggf1 T C 13: 95,352,850 probably benign Het
Aktip C T 8: 91,126,892 V96I possibly damaging Het
Atm A G 9: 53,522,176 I258T probably benign Het
Baz1b C T 5: 135,244,306 T1428I probably damaging Het
C3ar1 A T 6: 122,849,975 Y428N probably damaging Het
C87499 A T 4: 88,627,890 I405N probably damaging Het
Cadps A G 14: 12,597,380 S437P probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Cbwd1 A T 19: 24,931,662 probably null Het
Cenpq A G 17: 40,924,332 L213P probably damaging Het
Cln6 A G 9: 62,847,125 I150V probably benign Het
Cyb5r3 T C 15: 83,160,935 T94A probably benign Het
Cyp2c67 A G 19: 39,617,417 M345T probably damaging Het
Dapk2 T A 9: 66,246,523 I187N probably damaging Het
Dkk2 A G 3: 132,177,912 D191G probably benign Het
Dnah8 T A 17: 30,767,811 F3145I probably damaging Het
Dock1 A C 7: 135,108,819 D1190A possibly damaging Het
Ehhadh T A 16: 21,762,870 L457F probably damaging Het
Ercc6l2 T C 13: 63,853,683 L552P probably damaging Het
Ghrhr T G 6: 55,384,153 I284S probably damaging Het
Gm10288 A T 3: 146,839,199 noncoding transcript Het
Gp6 T G 7: 4,394,508 I19L probably benign Het
Gria4 G A 9: 4,456,206 S698L possibly damaging Het
Ifng A T 10: 118,442,505 I53F possibly damaging Het
Kazn A C 4: 142,147,016 probably null Het
Khk A T 5: 30,928,504 I136F probably damaging Het
Krtap9-3 T A 11: 99,598,059 probably benign Het
Lnx1 T A 5: 74,627,366 N98Y probably damaging Het
Lsp1 T C 7: 142,488,942 probably null Het
Lta4h A T 10: 93,478,467 N467I probably benign Het
Mcmbp C A 7: 128,709,781 probably null Het
Me2 A T 18: 73,797,967 I85K probably benign Het
Muc4 C T 16: 32,750,986 T288I possibly damaging Het
Nadsyn1 A T 7: 143,799,912 Y525N probably damaging Het
Nt5e G A 9: 88,327,893 V70M probably damaging Het
Olfr677 G A 7: 105,056,975 G243D probably damaging Het
Olfr827 T G 10: 130,210,734 Y132S probably damaging Het
Olfr883 A T 9: 38,026,036 I77L possibly damaging Het
Pkd1l3 A G 8: 109,646,497 probably benign Het
Ppm1d A T 11: 85,345,715 E440V probably damaging Het
Ripor2 A T 13: 24,731,589 E1047D probably damaging Het
Rwdd2b G A 16: 87,437,448 A18V probably benign Het
Serpina5 G T 12: 104,102,125 K148N probably damaging Het
Setx A G 2: 29,146,964 K1154E probably benign Het
Spata31 T A 13: 64,921,218 N393K probably benign Het
Spcs2 T C 7: 99,849,034 K81R probably damaging Het
Stt3b T A 9: 115,250,907 M646L possibly damaging Het
Suco T C 1: 161,818,626 T1169A probably benign Het
Susd1 A T 4: 59,427,985 Y66* probably null Het
Trim34a T A 7: 104,261,234 C414* probably null Het
Trim58 G A 11: 58,651,350 G379S probably damaging Het
Vmn2r50 T A 7: 10,053,075 Q35L probably benign Het
Zc3hc1 C A 6: 30,376,058 G168W probably benign Het
Zfp418 T C 7: 7,174,691 probably benign Het
Zfp57 G A 17: 37,010,027 V258I probably benign Het
Other mutations in Cept1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Cept1 APN 3 106505803 missense possibly damaging 0.95
IGL01860:Cept1 APN 3 106531128 intron probably benign
IGL02053:Cept1 APN 3 106533396 missense probably damaging 1.00
IGL02351:Cept1 APN 3 106539188 critical splice donor site probably null
IGL02568:Cept1 APN 3 106503719 missense probably benign 0.03
IGL02960:Cept1 APN 3 106539396 nonsense probably null
IGL03019:Cept1 APN 3 106504641 missense probably damaging 1.00
IGL03182:Cept1 APN 3 106504550 missense probably damaging 1.00
IGL03401:Cept1 APN 3 106533390 missense probably damaging 1.00
R2128:Cept1 UTSW 3 106512879 missense probably damaging 1.00
R2928:Cept1 UTSW 3 106531152 missense probably benign 0.07
R3688:Cept1 UTSW 3 106520015 missense probably benign 0.00
R4762:Cept1 UTSW 3 106539361 nonsense probably null
R4861:Cept1 UTSW 3 106505732 missense probably damaging 0.97
R4861:Cept1 UTSW 3 106505732 missense probably damaging 0.97
R4890:Cept1 UTSW 3 106505807 missense probably damaging 1.00
R5506:Cept1 UTSW 3 106531248 missense probably benign 0.00
R5999:Cept1 UTSW 3 106533443 missense probably damaging 1.00
R6106:Cept1 UTSW 3 106503676 missense probably benign 0.00
R6478:Cept1 UTSW 3 106533445 nonsense probably null
R6560:Cept1 UTSW 3 106505278 missense possibly damaging 0.84
R6858:Cept1 UTSW 3 106512879 splice site probably null
R7372:Cept1 UTSW 3 106503740 missense probably benign 0.14
Posted On2015-04-16