Mutagenetix > Incidental Mutation

Incidental Mutation 'R8910:Cept1'

678537

Institutional Source

Beutler Lab

Gene Symbol

Cept1

Ensembl Gene

ENSMUSG00000040774

Gene Name

choline/ethanolaminephosphotransferase 1

Synonyms

9930118K05Rik

MMRRC Submission

068701-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R8910 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106409576-106455118 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 106446565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 94 (S94A)

Ref Sequence

ENSEMBL: ENSMUSP00000037277 (fasta)

Gene Model

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

AlphaFold

Q8BGS7

Predicted Effect

probably benign
Transcript: ENSMUST00000039153
AA Change: S94A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037277
Gene: ENSMUSG00000040774
AA Change: S94A

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 benign
Transcript: ENSMUST00000068301
AA Change: S94A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000065743
Gene: ENSMUSG00000040774
AA Change: S94A

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 benign
Transcript: ENSMUST00000121231
AA Change: S94A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112509
Gene: ENSMUSG00000040774
AA Change: S94A

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 benign
Transcript: ENSMUST00000148269
AA Change: S94A

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118343
Gene: ENSMUSG00000040774
AA Change: S94A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000192438
AA Change: S94A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142097
Gene: ENSMUSG00000040774
AA Change: S94A

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,471,768 (GRCm39)	I1058V	probably benign	Het
Abca5	T	C	11: 110,189,030 (GRCm39)	E809G	probably damaging	Het
Akap12	A	T	10: 4,263,822 (GRCm39)	Q77L	probably benign	Het
Aldh5a1	A	G	13: 25,102,599 (GRCm39)	V288A	probably damaging	Het
Alox5	C	A	6: 116,389,510 (GRCm39)	E586*	probably null	Het
Anxa2r1	T	A	13: 120,508,356 (GRCm39)		probably benign	Het
Arid5b	A	G	10: 67,934,108 (GRCm39)	F598S		Het
Btc	A	C	5: 91,508,671 (GRCm39)	M157R	probably benign	Het
Cadps2	T	C	6: 23,344,223 (GRCm39)	N908S	probably benign	Het
Cd244a	C	A	1: 171,386,941 (GRCm39)	H17N	probably damaging	Het
Cdh15	T	C	8: 123,575,240 (GRCm39)	L5P	probably benign	Het
Cep15	A	G	14: 12,285,444 (GRCm38)	H10R	probably benign	Het
Cntn4	T	C	6: 106,632,497 (GRCm39)	M507T	probably benign	Het
Cpne4	A	G	9: 104,799,706 (GRCm39)		probably benign	Het
Dffb	T	C	4: 154,057,416 (GRCm39)	D87G	possibly damaging	Het
Dlgap1	C	T	17: 71,093,815 (GRCm39)	T712I	probably damaging	Het
Dnhd1	A	C	7: 105,332,904 (GRCm39)	H155P	possibly damaging	Het
Dpyd	A	G	3: 118,404,167 (GRCm39)	K38R	probably benign	Het
Evx1	C	T	6: 52,293,746 (GRCm39)	R305C	probably damaging	Het
Ezr	A	G	17: 7,023,299 (GRCm39)	L47P	probably damaging	Het
Fabp6	C	T	11: 43,492,335 (GRCm39)	A2T	possibly damaging	Het
Fam78a	G	A	2: 31,959,681 (GRCm39)	T143M	probably damaging	Het
Fam83h	C	T	15: 75,874,844 (GRCm39)	G831D	probably benign	Het
Fermt2	G	A	14: 45,702,389 (GRCm39)	A465V	probably damaging	Het
Fras1	T	C	5: 96,715,855 (GRCm39)	S358P	probably benign	Het
Frem1	C	A	4: 82,868,694 (GRCm39)	G1429V	probably benign	Het
Fst	T	A	13: 114,590,245 (GRCm39)		probably benign	Het
Gfpt1	T	C	6: 87,030,787 (GRCm39)	I57T	probably benign	Het
Gimap6	A	G	6: 48,679,388 (GRCm39)	I216T	probably damaging	Het
Gm10267	T	A	18: 44,289,511 (GRCm39)	N73I	possibly damaging	Het
H2-M2	G	A	17: 37,792,413 (GRCm39)	T286I	probably damaging	Het
Hgs	T	C	11: 120,369,202 (GRCm39)		probably null	Het
Klra6	T	C	6: 129,993,647 (GRCm39)	E208G	probably benign	Het
L3mbtl1	A	T	2: 162,812,213 (GRCm39)	T753S	probably benign	Het
Larp6	A	G	9: 60,620,526 (GRCm39)	E13G	probably benign	Het
Mroh2b	A	G	15: 4,960,855 (GRCm39)	I806V	probably benign	Het
Myo1g	T	C	11: 6,468,009 (GRCm39)	N142S	possibly damaging	Het
Myo3a	A	G	2: 22,464,280 (GRCm39)	T1112A	probably benign	Het
Or4b1b	C	A	2: 90,126,848 (GRCm39)	R119L	possibly damaging	Het
Pelp1	A	T	11: 70,287,461 (GRCm39)	M449K	probably damaging	Het
Ppp4r1	T	C	17: 66,144,768 (GRCm39)	V795A	probably damaging	Het
Ppp4r3b	G	T	11: 29,146,290 (GRCm39)	M372I	probably null	Het
Ptprk	T	C	10: 28,368,993 (GRCm39)	V655A	possibly damaging	Het
Rad51d	T	C	11: 82,773,793 (GRCm39)	R166G	probably damaging	Het
Rbm19	T	A	5: 120,271,844 (GRCm39)	Y650N	probably damaging	Het
Rreb1	A	G	13: 38,132,741 (GRCm39)	K204E		Het
Ryr1	A	G	7: 28,771,340 (GRCm39)	L2567P	probably damaging	Het
Scn3a	T	A	2: 65,338,883 (GRCm39)	S599C	probably damaging	Het
Slc7a15	T	A	12: 8,589,117 (GRCm39)		probably benign	Het
Taf6	T	C	5: 138,182,716 (GRCm39)	T12A	probably benign	Het
Tbc1d10b	T	C	7: 126,806,938 (GRCm39)	T200A	probably benign	Het
Tex21	C	T	12: 76,263,533 (GRCm39)		probably benign	Het
Thap4	T	C	1: 93,642,666 (GRCm39)	H515R	probably damaging	Het
Tmem94	A	G	11: 115,688,252 (GRCm39)	Q1237R	probably damaging	Het
Tppp3	A	G	8: 106,194,924 (GRCm39)	V69A	probably benign	Het
Unc5a	A	G	13: 55,151,401 (GRCm39)	E695G	possibly damaging	Het
Wtip	G	A	7: 33,832,063 (GRCm39)	P141L	possibly damaging	Het
Wwp1	A	T	4: 19,627,741 (GRCm39)	M718K	possibly damaging	Het
Zbtb25	A	C	12: 76,395,908 (GRCm39)	V438G	probably damaging	Het
Zfp444	T	C	7: 6,187,026 (GRCm39)	L46P	probably damaging	Het
Zfp521	T	C	18: 13,977,233 (GRCm39)	H1060R	probably benign	Het
Zkscan14	A	G	5: 145,132,190 (GRCm39)	F447S	probably damaging	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
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
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'- GCCTTGCTTATAGACATGCCATC -3'
(R):5'- TTTCAGTTACCGACACCACC -3'

Sequencing Primer
(F):5'- GTAGGAAGGACTTACATGCAATTC -3'
(R):5'- CACTGTCAAGACACCAGTTAAAACGG -3'

Posted On

2021-08-02