Mutagenetix > Incidental Mutations

Incidental Mutation 'R4861:Cept1'

380243

Institutional Source

Beutler Lab

Gene Symbol

Cept1

Ensembl Gene

ENSMUSG00000040774

Gene Name

choline/ethanolaminephosphotransferase 1

Synonyms

9930118K05Rik

MMRRC Submission

042472-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R4861 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106502260-106547802 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 106505732 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 226 (S226A)

Ref Sequence

ENSEMBL: ENSMUSP00000142097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029508] [ENSMUST00000039153] [ENSMUST00000068301] [ENSMUST00000121231] [ENSMUST00000183271] [ENSMUST00000192438]

Predicted Effect

probably benign
Transcript: ENSMUST00000029508

SMART Domains

Protein: ENSMUSP00000029508
Gene: ENSMUSG00000027901

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
uDENN	47	139	4.15e-27	SMART
DENN	146	330	8.1e-71	SMART
dDENN	368	435	3.38e-18	SMART
low complexity region	447	461	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039153
AA Change: S279A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037277
Gene: ENSMUSG00000040774
AA Change: S279A

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

possibly damaging
Transcript: ENSMUST00000068301
AA Change: S279A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000065743
Gene: ENSMUSG00000040774
AA Change: S279A

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

possibly damaging
Transcript: ENSMUST00000121231
AA Change: S279A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112509
Gene: ENSMUSG00000040774
AA Change: S279A

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: ENSMUST00000183271

SMART Domains

Protein: ENSMUSP00000138462
Gene: ENSMUSG00000027901

Domain	Start	End	E-Value	Type
low complexity region	15	28	N/A	INTRINSIC
uDENN	57	149	4.15e-27	SMART
DENN	156	340	8.1e-71	SMART
dDENN	378	445	3.38e-18	SMART
low complexity region	457	471	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000192438
AA Change: S226A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142097
Gene: ENSMUSG00000040774
AA Change: S226A

Domain	Start	End	E-Value	Type
Pfam:CDP-OH_P_transf	81	215	2.3e-20	PFAM
transmembrane domain	227	246	N/A	INTRINSIC

Meta Mutation Damage Score

0.2675

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.2%
20x: 84.7%

Validation Efficiency

100% (53/53)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,245,905	R1153H	probably damaging	Het
Ahcy	T	C	2: 155,060,516	E411G	probably benign	Het
Alpi	T	A	1: 87,100,469	I211F	probably damaging	Het
Arfgef3	G	A	10: 18,607,731	A1415V	probably benign	Het
Car3	T	C	3: 14,866,896	V109A	probably damaging	Het
Ccdc114	A	G	7: 45,942,873	E359G	probably damaging	Het
Cdk13	A	T	13: 17,766,586	V17D	probably damaging	Het
Dbt	A	T	3: 116,548,078	I443L	probably benign	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Farp2	T	C	1: 93,605,419	L633S	probably damaging	Het
Frmd6	T	G	12: 70,893,726	S382A	probably damaging	Het
Gm26727	T	C	2: 67,432,945	I79M	probably damaging	Het
Gm5800	T	A	14: 51,716,047	N37I	probably damaging	Het
Hapln1	G	A	13: 89,601,452	G39S	possibly damaging	Het
Ice2	T	A	9: 69,415,448	S408R	probably benign	Het
Lctl	T	C	9: 64,119,763	I131T	possibly damaging	Het
Mvk	C	T	5: 114,460,197		probably benign	Het
Mzt1	T	C	14: 99,047,474		probably null	Het
Ncoa7	T	A	10: 30,704,612	M117L	probably benign	Het
Npy4r	C	T	14: 34,146,883	W149*	probably null	Het
Nr5a2	A	G	1: 136,948,720		probably null	Het
Plg	G	A	17: 12,395,735	E301K	probably benign	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Rapgef2	T	C	3: 79,074,436	K1084R	probably benign	Het
Slc41a2	T	C	10: 83,316,458	Q51R	probably damaging	Het
Slc47a2	A	T	11: 61,336,233	C170S	probably benign	Het
Slco1b2	A	T	6: 141,671,222	N427I	possibly damaging	Het
Smc2	G	A	4: 52,461,090	R571H	probably benign	Het
Sp4	G	T	12: 118,300,811		probably null	Het
Tas2r117	T	C	6: 132,803,129	F77L	probably benign	Het
Tbcd	C	T	11: 121,601,961	R875C	probably damaging	Het
Thumpd2	A	G	17: 81,026,801	S453P	probably benign	Het
Vars2	G	T	17: 35,661,933	Q13K	probably benign	Het

Other mutations in Cept1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02358: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
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
R8481:Cept1	UTSW	3	106505253	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTGTTGTGCCCATAGACAC -3'
(R):5'- GCCAGACCCTAGATCCATTCATAG -3'

Sequencing Primer
(F):5'- TGTTGTGCCCATAGACACAAAACATG -3'
(R):5'- CCCTAGATCCATTCATAGAGCTTTAC -3'

Posted On

2016-04-15