Mutagenetix > Incidental Mutation

Incidental Mutation 'R1597:Cel'

175847

Institutional Source

Beutler Lab

Gene Symbol

Cel

Ensembl Gene

ENSMUSG00000026818

Gene Name

carboxyl ester lipase

Synonyms

BAL, 1810036E18Rik

MMRRC Submission

039634-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R1597 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28445831-28453415 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 28450479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028161 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028161]

AlphaFold

Q64285

Predicted Effect

probably benign
Transcript: ENSMUST00000028161

SMART Domains

Protein: ENSMUSP00000028161
Gene: ENSMUSG00000026818

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	542	2.4e-163	PFAM
Pfam:Abhydrolase_3	121	226	8e-8	PFAM
low complexity region	568	589	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131370

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177012

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 91.1%

Validation Efficiency

100% (77/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysis and absorption. This encoded protein promotes large chylomicron production in the intestine. Also its presence in plasma suggests its interactions with cholesterol and oxidized lipoproteins to modulate the progression of atherosclerosis. In pancreatic tumoral cells, this encoded protein is thought to be sequestrated within the Golgi compartment and is probably not secreted. This gene contains a variable number of tandem repeat (VNTR) polymorphism in the coding region that may influence the function of the encoded protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced cholesteryl ester absorption. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	A	T	19: 34,229,983 (GRCm39)		probably benign	Het
Afap1l2	T	C	19: 56,902,881 (GRCm39)	N748S	probably benign	Het
Aox1	T	A	1: 58,086,326 (GRCm39)	I77N	probably damaging	Het
Ap1s1	A	T	5: 137,072,095 (GRCm39)	M20K	probably damaging	Het
Atad3a	A	T	4: 155,835,892 (GRCm39)		probably null	Het
Atp1b1	G	T	1: 164,265,889 (GRCm39)	R291S	probably damaging	Het
Birc7	T	C	2: 180,570,974 (GRCm39)	V12A	possibly damaging	Het
Btnl2	T	C	17: 34,582,211 (GRCm39)	V259A	probably damaging	Het
Cdh11	A	T	8: 103,377,343 (GRCm39)	N434K	probably benign	Het
Col10a1	A	G	10: 34,271,074 (GRCm39)	K349E	probably damaging	Het
Ddhd2	A	G	8: 26,239,768 (GRCm39)	V315A	probably benign	Het
Dnah17	C	A	11: 117,994,324 (GRCm39)		probably benign	Het
Dock2	T	C	11: 34,595,474 (GRCm39)	T441A	probably benign	Het
Ermap	A	T	4: 119,041,152 (GRCm39)	I286N	probably damaging	Het
Fbxl17	T	C	17: 63,794,813 (GRCm39)	K423R	probably damaging	Het
Frem2	T	C	3: 53,561,940 (GRCm39)	T856A	probably benign	Het
Gas6	T	C	8: 13,543,901 (GRCm39)	E64G	probably damaging	Het
Gzma	T	A	13: 113,232,331 (GRCm39)	N190I	probably damaging	Het
Ifngr1	C	T	10: 19,485,090 (GRCm39)	T363M	probably damaging	Het
Itga7	A	G	10: 128,782,732 (GRCm39)	T690A	probably benign	Het
Kif15	A	G	9: 122,823,074 (GRCm39)	E485G	probably benign	Het
Kif18a	A	G	2: 109,123,336 (GRCm39)	I203M	probably damaging	Het
Klhl1	A	T	14: 96,438,647 (GRCm39)		probably null	Het
Lrch3	C	T	16: 32,770,781 (GRCm39)	Q128*	probably null	Het
Lrriq4	C	G	3: 30,705,037 (GRCm39)	P355R	probably damaging	Het
Mcm10	A	T	2: 5,003,563 (GRCm39)	H551Q	probably damaging	Het
Mcm3ap	T	C	10: 76,319,060 (GRCm39)	F763L	probably damaging	Het
Mdc1	T	A	17: 36,156,758 (GRCm39)	V55E	probably damaging	Het
Me2	A	T	18: 73,931,016 (GRCm39)	N92K	probably damaging	Het
Mtss1	A	G	15: 58,815,560 (GRCm39)	S667P	probably damaging	Het
Mup5	A	T	4: 61,753,317 (GRCm39)	Y15N	possibly damaging	Het
Mx1	T	A	16: 97,256,329 (GRCm39)	M197L	probably damaging	Het
N4bp2	C	T	5: 65,964,483 (GRCm39)	T844I	probably benign	Het
Nlrc3	T	A	16: 3,781,859 (GRCm39)	R517W	probably damaging	Het
Nos3	A	T	5: 24,573,995 (GRCm39)	I227F	probably damaging	Het
Or52a5	A	G	7: 103,427,267 (GRCm39)	F95S	probably benign	Het
Pabpc2	A	G	18: 39,906,953 (GRCm39)	N73D	probably damaging	Het
Pcdhb18	A	G	18: 37,624,820 (GRCm39)	R717G	probably benign	Het
Pcsk5	T	A	19: 17,413,964 (GRCm39)	M1702L	probably benign	Het
Plxna2	A	C	1: 194,431,614 (GRCm39)		probably benign	Het
Polr2a	A	G	11: 69,630,755 (GRCm39)	M1221T	possibly damaging	Het
Polr2b	A	G	5: 77,473,948 (GRCm39)	D384G	probably damaging	Het
Ppl	T	A	16: 4,925,438 (GRCm39)	H67L	probably benign	Het
Psmd5	A	G	2: 34,757,035 (GRCm39)	L63S	probably damaging	Het
Psme1	A	G	14: 55,818,222 (GRCm39)	T150A	probably damaging	Het
Rapgef5	C	T	12: 117,621,940 (GRCm39)	R33C	probably damaging	Het
Rela	G	A	19: 5,695,359 (GRCm39)	R295H	probably damaging	Het
Rpe65	T	A	3: 159,320,421 (GRCm39)	V326E	probably damaging	Het
Scn5a	C	A	9: 119,391,563 (GRCm39)	R43L	probably damaging	Het
Skida1	T	C	2: 18,051,143 (GRCm39)		probably benign	Het
Slc4a4	G	A	5: 89,283,587 (GRCm39)	A469T	probably benign	Het
Spaca7	G	T	8: 12,630,991 (GRCm39)	E48*	probably null	Het
Syn3	G	T	10: 85,970,908 (GRCm39)	T238K	probably benign	Het
Taok1	A	G	11: 77,470,626 (GRCm39)	S60P	probably benign	Het
Tecpr1	A	G	5: 144,151,128 (GRCm39)	I256T	probably benign	Het
Tenm4	T	A	7: 96,552,196 (GRCm39)		probably null	Het
Tex15	A	G	8: 34,061,511 (GRCm39)	T588A	probably damaging	Het
Tgfbi	T	A	13: 56,780,004 (GRCm39)		probably benign	Het
Tmem62	G	A	2: 120,814,843 (GRCm39)	A169T	probably benign	Het
Tnc	A	G	4: 63,924,621 (GRCm39)	S1026P	probably benign	Het
Tnik	T	C	3: 28,658,418 (GRCm39)	S568P	probably damaging	Het
Trpm6	A	T	19: 18,804,888 (GRCm39)	I947F	probably damaging	Het
Ttc27	T	A	17: 75,170,402 (GRCm39)	L832Q	possibly damaging	Het
U2surp	C	T	9: 95,363,793 (GRCm39)		probably benign	Het
Ube4a	A	T	9: 44,841,064 (GRCm39)	D1009E	possibly damaging	Het
Unc13d	T	C	11: 115,965,262 (GRCm39)	E192G	probably benign	Het
Vmn2r71	T	C	7: 85,273,352 (GRCm39)	V722A	possibly damaging	Het
Zfp386	T	C	12: 116,023,709 (GRCm39)	S476P	probably damaging	Het
Zfp644	A	T	5: 106,786,199 (GRCm39)	V116D	probably damaging	Het
Zfyve16	T	A	13: 92,644,755 (GRCm39)	N1149I	probably benign	Het

Other mutations in Cel

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Cel	APN	2	28,449,397 (GRCm39)	missense	probably damaging	0.98
IGL01327:Cel	APN	2	28,447,967 (GRCm39)	missense	possibly damaging	0.61
IGL01606:Cel	APN	2	28,450,576 (GRCm39)	missense	probably benign	0.04
R0304:Cel	UTSW	2	28,447,783 (GRCm39)	missense	probably benign	0.04
R0321:Cel	UTSW	2	28,451,160 (GRCm39)	missense	probably benign	0.00
R0865:Cel	UTSW	2	28,450,627 (GRCm39)	missense	probably damaging	1.00
R1123:Cel	UTSW	2	28,446,752 (GRCm39)	missense	probably damaging	1.00
R1424:Cel	UTSW	2	28,449,636 (GRCm39)	missense	probably damaging	0.99
R1448:Cel	UTSW	2	28,446,338 (GRCm39)	missense	probably damaging	1.00
R1717:Cel	UTSW	2	28,446,789 (GRCm39)	missense	probably damaging	1.00
R2256:Cel	UTSW	2	28,451,204 (GRCm39)	missense	probably damaging	1.00
R3149:Cel	UTSW	2	28,446,143 (GRCm39)	missense	probably benign	0.04
R4105:Cel	UTSW	2	28,448,039 (GRCm39)	missense	probably benign	0.35
R4520:Cel	UTSW	2	28,447,980 (GRCm39)	missense	probably benign	0.08
R5135:Cel	UTSW	2	28,449,435 (GRCm39)	missense	probably benign	0.39
R5318:Cel	UTSW	2	28,447,720 (GRCm39)	missense	possibly damaging	0.77
R5323:Cel	UTSW	2	28,450,530 (GRCm39)	missense	probably damaging	1.00
R5958:Cel	UTSW	2	28,450,957 (GRCm39)	missense	probably damaging	0.97
R6803:Cel	UTSW	2	28,448,060 (GRCm39)	missense	probably benign	0.36
R6976:Cel	UTSW	2	28,446,854 (GRCm39)	missense	probably damaging	1.00
R7342:Cel	UTSW	2	28,450,649 (GRCm39)	nonsense	probably null
R8496:Cel	UTSW	2	28,446,200 (GRCm39)	missense	probably benign	0.39
R9062:Cel	UTSW	2	28,451,214 (GRCm39)	missense	probably benign	0.38
R9223:Cel	UTSW	2	28,449,441 (GRCm39)	frame shift	probably null
R9224:Cel	UTSW	2	28,449,441 (GRCm39)	frame shift	probably null
R9385:Cel	UTSW	2	28,450,587 (GRCm39)	missense	probably damaging	0.99
R9695:Cel	UTSW	2	28,450,961 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCTCCCCTGTCCCATAGTTTAG -3'
(R):5'- CCATTTGGTGTCGTCAAGCTCAAC -3'

Sequencing Primer
(F):5'- ATAGTTTAGCTTTAGTCCCCCAAC -3'
(R):5'- AACAGGGCTACTGAGCTGTC -3'

Posted On

2014-04-24