Mutagenetix > Incidental Mutation

Incidental Mutation 'R9337:Cept1'

707225

Institutional Source

Beutler Lab

Gene Symbol

Cept1

Ensembl Gene

ENSMUSG00000040774

Gene Name

choline/ethanolaminephosphotransferase 1

Synonyms

9930118K05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R9337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106409576-106455118 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106412575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 299 (L299S)

Ref Sequence

ENSEMBL: ENSMUSP00000037277 (fasta)

Gene Model

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

AlphaFold

Q8BGS7

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: L299S

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000037277
Gene: ENSMUSG00000040774
AA Change: L299S

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: L299S

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065743
Gene: ENSMUSG00000040774
AA Change: L299S

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: L299S

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112509
Gene: ENSMUSG00000040774
AA Change: L299S

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: L246S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142097
Gene: ENSMUSG00000040774
AA Change: L246S

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (65/65)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adad1	T	C	3: 37,139,247 (GRCm39)	V439A	possibly damaging	Het
Ahnak	G	A	19: 8,989,824 (GRCm39)		probably benign	Het
Arhgef10l	G	A	4: 140,338,624 (GRCm39)	T46I	probably damaging	Het
C3ar1	A	G	6: 122,827,278 (GRCm39)	V313A	probably benign	Het
Capn13	T	A	17: 73,633,467 (GRCm39)		probably null	Het
Ccdc30	T	A	4: 119,190,920 (GRCm39)		probably null	Het
Ccdc7a	T	C	8: 129,616,319 (GRCm39)	Q928R	probably benign	Het
Clba1	T	C	12: 112,775,898 (GRCm39)	L218P	probably damaging	Het
Cnot1	T	C	8: 96,468,448 (GRCm39)	I1460M	probably damaging	Het
Col4a2	T	C	8: 11,479,346 (GRCm39)	L743P	probably benign	Het
Cop1	T	C	1: 159,072,221 (GRCm39)	V179A	probably benign	Het
Cpvl	A	G	6: 53,909,479 (GRCm39)	I219T	probably damaging	Het
Cyc1	T	C	15: 76,228,506 (GRCm39)	V45A	probably benign	Het
Dnhd1	T	A	7: 105,369,806 (GRCm39)	N4410K	probably benign	Het
Dok4	T	A	8: 95,593,469 (GRCm39)	T106S	probably benign	Het
Exosc10	T	C	4: 148,665,588 (GRCm39)	F842L	probably damaging	Het
Fam24b	T	A	7: 130,927,949 (GRCm39)	Y80F	probably benign	Het
Fbn2	G	A	18: 58,342,723 (GRCm39)	A52V	probably benign	Het
Gal3st3	A	T	19: 5,356,868 (GRCm39)	N81I	probably damaging	Het
Gm13283	T	A	4: 88,679,036 (GRCm39)	V9E	possibly damaging	Het
Gm17026	A	G	14: 42,080,873 (GRCm39)	S58P		Het
Grm8	A	T	6: 27,761,214 (GRCm39)	S337T	probably benign	Het
Hdac5	G	A	11: 102,096,178 (GRCm39)	P332S	probably damaging	Het
Hr	A	T	14: 70,797,324 (GRCm39)	E519V	probably benign	Het
Hspbap1	A	G	16: 35,645,395 (GRCm39)	H360R	probably benign	Het
Iqgap3	T	G	3: 88,023,425 (GRCm39)		probably null	Het
Krtap5-3	T	A	7: 141,756,267 (GRCm39)	H175Q	unknown	Het
Lrrn4	A	T	2: 132,712,552 (GRCm39)	S424T	probably benign	Het
Lsm10	C	A	4: 125,991,660 (GRCm39)	H5Q	probably damaging	Het
Megf10	A	T	18: 57,394,252 (GRCm39)	K459*	probably null	Het
Myo15b	A	C	11: 115,749,861 (GRCm39)	K210N		Het
Or12e7	T	A	2: 87,287,527 (GRCm39)	I6N	probably benign	Het
Or8k38	T	C	2: 86,488,476 (GRCm39)	T109A	probably benign	Het
Park7	A	T	4: 150,991,553 (GRCm39)	C46S	probably damaging	Het
Pik3cb	A	G	9: 98,943,844 (GRCm39)	F653S	probably damaging	Het
Plekha1	T	A	7: 130,511,348 (GRCm39)	C311S	possibly damaging	Het
Pprc1	T	A	19: 46,052,198 (GRCm39)	M576K	unknown	Het
Prelid3b	G	A	2: 174,310,161 (GRCm39)	T74M	probably benign	Het
Prg4	T	C	1: 150,327,116 (GRCm39)	Y311C	probably damaging	Het
Prom2	A	C	2: 127,371,094 (GRCm39)	V801G	probably damaging	Het
Psmd9	T	A	5: 123,386,387 (GRCm39)	V44D	probably damaging	Het
Ptpn3	C	G	4: 57,218,521 (GRCm39)	L647F	probably damaging	Het
Ptprj	T	C	2: 90,270,238 (GRCm39)	D1286G	probably damaging	Het
Rcc2	T	C	4: 140,445,689 (GRCm39)	I449T	probably damaging	Het
Rev3l	A	T	10: 39,698,850 (GRCm39)	S1116C	probably benign	Het
Rnf212	A	T	5: 108,922,755 (GRCm39)	S32T	possibly damaging	Het
Rnf40	T	A	7: 127,188,172 (GRCm39)	S2T	probably benign	Het
Rrp8	T	C	7: 105,383,384 (GRCm39)	D294G	probably damaging	Het
Rtf2	A	T	2: 172,308,205 (GRCm39)	K201N	probably damaging	Het
Runx3	A	G	4: 134,890,574 (GRCm39)	T173A	probably damaging	Het
Sardh	T	C	2: 27,086,678 (GRCm39)	I827M	probably benign	Het
Sec22b	T	C	3: 97,828,494 (GRCm39)	Y186H	probably benign	Het
Serpina5	C	T	12: 104,071,542 (GRCm39)	T383I	possibly damaging	Het
Slc12a2	A	G	18: 58,063,238 (GRCm39)	D906G	probably damaging	Het
Socs1	T	C	16: 10,602,578 (GRCm39)	D53G	possibly damaging	Het
Stat1	G	T	1: 52,191,429 (GRCm39)	A595S	probably benign	Het
Stat3	A	T	11: 100,798,815 (GRCm39)		probably null	Het
Styxl1	T	C	5: 135,794,592 (GRCm39)	S82G	probably benign	Het
Taf1b	T	A	12: 24,597,121 (GRCm39)	D353E	possibly damaging	Het
Tbce	T	C	13: 14,194,398 (GRCm39)	K87R	probably benign	Het
Thada	T	C	17: 84,749,205 (GRCm39)	M589V	probably benign	Het
Them5	A	G	3: 94,254,048 (GRCm39)	M257V	unknown	Het
Tln1	A	T	4: 43,532,927 (GRCm39)	I2425N	probably damaging	Het
Tuba8	A	G	6: 121,202,823 (GRCm39)	S379G	probably damaging	Het
Vrk1	T	C	12: 106,024,957 (GRCm39)		probably null	Het
Zbtb34	T	C	2: 33,301,716 (GRCm39)	Y275C	probably damaging	Het
Zcwpw1	T	C	5: 137,799,274 (GRCm39)	C214R	probably benign	Het
Zeb2	A	G	2: 44,912,912 (GRCm39)	V137A	probably benign	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
R8910:Cept1	UTSW	3	106,446,565 (GRCm39)	missense	probably benign
R8936:Cept1	UTSW	3	106,411,921 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GTGAAAAGAGCTCCTGCATTG -3'
(R):5'- TTTGCAGTTCACTAGCAGCC -3'

Sequencing Primer
(F):5'- TCTTGGACTACTTAGGAAGCCAC -3'
(R):5'- GTTCACTAGCAGCCACTGTGAAG -3'

Posted On

2022-04-18