Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02358:Cept1'

290395

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 #

IGL02358

Quality Score

Status

Chromosome

Chromosomal Location

106409576-106455118 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 106446504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039153] [ENSMUST00000068301] [ENSMUST00000121231] [ENSMUST00000137530] [ENSMUST00000141525] [ENSMUST00000148269] [ENSMUST00000192438]

AlphaFold

Q8BGS7

Predicted Effect

probably null
Transcript: ENSMUST00000039153

SMART Domains

Protein: ENSMUSP00000037277
Gene: ENSMUSG00000040774

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:CDP-OH_P_transf	81	178	8.8e-23	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000192438

SMART Domains

Protein: ENSMUSP00000142097
Gene: ENSMUSG00000040774

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,474,418 (GRCm39)	T448A	possibly damaging	Het
Adamtsl1	T	A	4: 86,075,110 (GRCm39)		probably null	Het
Adgra3	A	G	5: 50,215,900 (GRCm39)	V73A	probably benign	Het
Adgre4	G	A	17: 56,150,209 (GRCm39)	R600Q	probably benign	Het
Aggf1	T	C	13: 95,489,358 (GRCm39)		probably benign	Het
Aktip	C	T	8: 91,853,520 (GRCm39)	V96I	possibly damaging	Het
Atm	A	G	9: 53,433,476 (GRCm39)	I258T	probably benign	Het
Baz1b	C	T	5: 135,273,160 (GRCm39)	T1428I	probably damaging	Het
C3ar1	A	T	6: 122,826,934 (GRCm39)	Y428N	probably damaging	Het
Cadps	A	G	14: 12,597,380 (GRCm38)	S437P	probably damaging	Het
Car4	C	T	11: 84,856,593 (GRCm39)	P294S	probably damaging	Het
Cenpq	A	G	17: 41,235,223 (GRCm39)	L213P	probably damaging	Het
Cln6	A	G	9: 62,754,407 (GRCm39)	I150V	probably benign	Het
Cyb5r3	T	C	15: 83,045,136 (GRCm39)	T94A	probably benign	Het
Cyp2c67	A	G	19: 39,605,861 (GRCm39)	M345T	probably damaging	Het
Dapk2	T	A	9: 66,153,805 (GRCm39)	I187N	probably damaging	Het
Dkk2	A	G	3: 131,883,673 (GRCm39)	D191G	probably benign	Het
Dnah8	T	A	17: 30,986,785 (GRCm39)	F3145I	probably damaging	Het
Dock1	A	C	7: 134,710,548 (GRCm39)	D1190A	possibly damaging	Het
Ehhadh	T	A	16: 21,581,620 (GRCm39)	L457F	probably damaging	Het
Ercc6l2	T	C	13: 64,001,497 (GRCm39)	L552P	probably damaging	Het
Ghrhr	T	G	6: 55,361,138 (GRCm39)	I284S	probably damaging	Het
Gm10288	A	T	3: 146,544,954 (GRCm39)		noncoding transcript	Het
Gp6	T	G	7: 4,397,507 (GRCm39)	I19L	probably benign	Het
Gria4	G	A	9: 4,456,206 (GRCm39)	S698L	possibly damaging	Het
Ifng	A	T	10: 118,278,410 (GRCm39)	I53F	possibly damaging	Het
Kazn	A	C	4: 141,874,327 (GRCm39)		probably null	Het
Khk	A	T	5: 31,085,848 (GRCm39)	I136F	probably damaging	Het
Krtap9-3	T	A	11: 99,488,885 (GRCm39)		probably benign	Het
Lnx1	T	A	5: 74,788,027 (GRCm39)	N98Y	probably damaging	Het
Lsp1	T	C	7: 142,042,679 (GRCm39)		probably null	Het
Lta4h	A	T	10: 93,314,329 (GRCm39)	N467I	probably benign	Het
Mcmbp	C	A	7: 128,311,505 (GRCm39)		probably null	Het
Me2	A	T	18: 73,931,038 (GRCm39)	I85K	probably benign	Het
Muc4	C	T	16: 32,569,804 (GRCm39)	T288I	possibly damaging	Het
Nadsyn1	A	T	7: 143,353,649 (GRCm39)	Y525N	probably damaging	Het
Nt5e	G	A	9: 88,209,946 (GRCm39)	V70M	probably damaging	Het
Or52e4	G	A	7: 104,706,182 (GRCm39)	G243D	probably damaging	Het
Or8b36	A	T	9: 37,937,332 (GRCm39)	I77L	possibly damaging	Het
Or9k7	T	G	10: 130,046,603 (GRCm39)	Y132S	probably damaging	Het
Pkd1l3	A	G	8: 110,373,129 (GRCm39)		probably benign	Het
Ppm1d	A	T	11: 85,236,541 (GRCm39)	E440V	probably damaging	Het
Pramel32	A	T	4: 88,546,127 (GRCm39)	I405N	probably damaging	Het
Ripor2	A	T	13: 24,915,572 (GRCm39)	E1047D	probably damaging	Het
Rwdd2b	G	A	16: 87,234,336 (GRCm39)	A18V	probably benign	Het
Serpina5	G	T	12: 104,068,384 (GRCm39)	K148N	probably damaging	Het
Setx	A	G	2: 29,036,976 (GRCm39)	K1154E	probably benign	Het
Spata31	T	A	13: 65,069,032 (GRCm39)	N393K	probably benign	Het
Spcs2	T	C	7: 99,498,241 (GRCm39)	K81R	probably damaging	Het
Stt3b	T	A	9: 115,079,975 (GRCm39)	M646L	possibly damaging	Het
Suco	T	C	1: 161,646,195 (GRCm39)	T1169A	probably benign	Het
Susd1	A	T	4: 59,427,985 (GRCm39)	Y66*	probably null	Het
Trim34a	T	A	7: 103,910,441 (GRCm39)	C414*	probably null	Het
Trim58	G	A	11: 58,542,176 (GRCm39)	G379S	probably damaging	Het
Vmn2r50	T	A	7: 9,787,002 (GRCm39)	Q35L	probably benign	Het
Zc3hc1	C	A	6: 30,376,057 (GRCm39)	G168W	probably benign	Het
Zfp418	T	C	7: 7,177,690 (GRCm39)		probably benign	Het
Zfp57	G	A	17: 37,320,919 (GRCm39)	V258I	probably benign	Het
Zng1	A	T	19: 24,909,026 (GRCm39)		probably null	Het

Other mutations in Cept1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2015-04-16