Mutagenetix > Incidental Mutation

Incidental Mutation 'R1717:Cel'

191084

Institutional Source

Beutler Lab

Gene Symbol

Cel

Ensembl Gene

ENSMUSG00000026818

Gene Name

carboxyl ester lipase

Synonyms

BAL, 1810036E18Rik

MMRRC Submission

039750-MU

Accession Numbers

Essential gene?

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

Stock #

R1717 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28445831-28453415 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28446789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 461 (Y461H)

Ref Sequence

ENSEMBL: ENSMUSP00000028161 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028161] [ENSMUST00000028170] [ENSMUST00000100241] [ENSMUST00000113893] [ENSMUST00000140704]

AlphaFold

Q64285

Predicted Effect

probably damaging
Transcript: ENSMUST00000028161
AA Change: Y461H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028161
Gene: ENSMUSG00000026818
AA Change: Y461H

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

probably benign
Transcript: ENSMUST00000028170

SMART Domains

Protein: ENSMUSP00000028170
Gene: ENSMUSG00000026821

Domain	Start	End	E-Value	Type
RasGEFN	56	194	4.02e-37	SMART
low complexity region	239	285	N/A	INTRINSIC
RasGEF	320	587	5.28e-118	SMART
low complexity region	613	626	N/A	INTRINSIC
low complexity region	646	655	N/A	INTRINSIC
low complexity region	683	712	N/A	INTRINSIC
low complexity region	716	726	N/A	INTRINSIC
RA	736	823	6.51e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100241

SMART Domains

Protein: ENSMUSP00000097812
Gene: ENSMUSG00000026821

Domain	Start	End	E-Value	Type
RasGEFN	111	249	4.02e-37	SMART
low complexity region	294	340	N/A	INTRINSIC
RasGEF	375	642	5.28e-118	SMART
low complexity region	668	681	N/A	INTRINSIC
low complexity region	701	710	N/A	INTRINSIC
low complexity region	738	767	N/A	INTRINSIC
low complexity region	771	781	N/A	INTRINSIC
RA	791	878	6.51e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113893

SMART Domains

Protein: ENSMUSP00000109526
Gene: ENSMUSG00000026821

Domain	Start	End	E-Value	Type
RasGEFN	111	237	1.25e-42	SMART
low complexity region	282	328	N/A	INTRINSIC
RasGEF	363	630	5.28e-118	SMART
low complexity region	656	669	N/A	INTRINSIC
low complexity region	689	698	N/A	INTRINSIC
low complexity region	726	755	N/A	INTRINSIC
low complexity region	759	769	N/A	INTRINSIC
RA	779	866	6.51e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137513

Predicted Effect

probably benign
Transcript: ENSMUST00000140704

SMART Domains

Protein: ENSMUSP00000118966
Gene: ENSMUSG00000026821

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
RA	36	123	6.51e-22	SMART

Meta Mutation Damage Score

0.2488

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (81/83)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	10: 95,629,641 (GRCm39)		probably null	Het
4930583I09Rik	T	C	17: 65,141,444 (GRCm39)	N53S	unknown	Het
4933434E20Rik	T	A	3: 89,963,544 (GRCm39)	S67T	probably benign	Het
Abcc8	T	C	7: 45,765,239 (GRCm39)	I1127V	possibly damaging	Het
Abcg3	G	A	5: 105,111,421 (GRCm39)	Q349*	probably null	Het
Adam2	A	G	14: 66,306,007 (GRCm39)	L158P	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,250,976 (GRCm39)		probably null	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Akap11	C	A	14: 78,750,788 (GRCm39)	S533I	probably benign	Het
Aldh1a2	A	T	9: 71,200,953 (GRCm39)	N517I	probably damaging	Het
Aldh4a1	A	T	4: 139,365,840 (GRCm39)	H277L	possibly damaging	Het
Aldh4a1	G	A	4: 139,361,305 (GRCm39)		probably null	Het
Ankrd27	A	G	7: 35,327,871 (GRCm39)	D742G	possibly damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arhgef7	C	A	8: 11,858,712 (GRCm39)		probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Armh4	T	C	14: 49,989,121 (GRCm39)	D616G	probably damaging	Het
Arvcf	A	G	16: 18,220,319 (GRCm39)	K568E	possibly damaging	Het
Atp8b3	G	A	10: 80,364,631 (GRCm39)	R521W	probably damaging	Het
Casp16	A	G	17: 23,771,024 (GRCm39)	I127T	possibly damaging	Het
Cd163	A	G	6: 124,306,547 (GRCm39)		probably benign	Het
Cdh8	A	T	8: 99,757,337 (GRCm39)	S754T	probably damaging	Het
Chmp4b	A	G	2: 154,499,240 (GRCm39)	I47V	possibly damaging	Het
Col1a1	A	G	11: 94,839,218 (GRCm39)	M989V	unknown	Het
Cpsf1	A	T	15: 76,486,766 (GRCm39)	S257T	possibly damaging	Het
Csmd1	A	T	8: 17,266,708 (GRCm39)	S73T	possibly damaging	Het
Csnk2a2	T	C	8: 96,182,436 (GRCm39)		probably null	Het
Dact2	A	T	17: 14,418,175 (GRCm39)	W177R	probably benign	Het
Ddx10	A	G	9: 53,071,253 (GRCm39)	V680A	probably benign	Het
Eif5	T	A	12: 111,508,651 (GRCm39)	D215E	probably benign	Het
Evpl	C	T	11: 116,116,318 (GRCm39)	A817T	probably benign	Het
Fmo6	T	A	1: 162,753,821 (GRCm39)	R131*	probably null	Het
Fsd2	T	C	7: 81,184,857 (GRCm39)	T680A	probably benign	Het
Fsip2	T	C	2: 82,805,289 (GRCm39)	V536A	possibly damaging	Het
Fzd8	T	C	18: 9,214,364 (GRCm39)	F482S	probably damaging	Het
Gabrb1	A	T	5: 72,265,694 (GRCm39)		probably null	Het
Galnt9	T	G	5: 110,744,078 (GRCm39)	I304S	probably benign	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm5334	A	C	7: 68,268,725 (GRCm39)		noncoding transcript	Het
Grcc10	A	T	6: 124,717,476 (GRCm39)		probably benign	Het
Hmcn1	T	C	1: 150,734,937 (GRCm39)	T192A	probably damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Irgm2	T	A	11: 58,111,461 (GRCm39)	L396Q	probably damaging	Het
Ksr2	T	A	5: 117,809,514 (GRCm39)	C426S	probably damaging	Het
Lair1	A	G	7: 4,013,788 (GRCm39)	F153S	probably damaging	Het
Lrp1	T	C	10: 127,392,138 (GRCm39)	H2835R	possibly damaging	Het
Lrp1	T	C	10: 127,399,534 (GRCm39)	T2325A	probably damaging	Het
Lrrd1	T	C	5: 3,900,580 (GRCm39)	F295S	probably damaging	Het
Meis1	T	A	11: 18,960,608 (GRCm39)		probably benign	Het
Mkln1	T	A	6: 31,484,579 (GRCm39)	I156K	probably benign	Het
Mmd2	T	C	5: 142,561,105 (GRCm39)		probably benign	Het
Morc1	A	G	16: 48,272,840 (GRCm39)	I156V	probably benign	Het
Muc4	A	G	16: 32,753,405 (GRCm38)	T1094A	possibly damaging	Het
Nckap1	A	G	2: 80,343,014 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,198,759 (GRCm39)	I394T	possibly damaging	Het
Or12e1	A	T	2: 87,022,247 (GRCm39)	N72I	probably benign	Het
Or2t49	T	A	11: 58,392,885 (GRCm39)	M166L	probably benign	Het
Or4e2	T	C	14: 52,688,296 (GRCm39)	V142A	probably benign	Het
Or5as1	A	T	2: 86,980,150 (GRCm39)	L285*	probably null	Het
Or8d1b	C	T	9: 38,887,706 (GRCm39)	L245F	probably damaging	Het
Pcdha1	T	C	18: 37,065,237 (GRCm39)	S634P	probably benign	Het
Pcdhb12	T	A	18: 37,569,841 (GRCm39)	V329E	probably damaging	Het
Pcf11	A	T	7: 92,312,793 (GRCm39)	D193E	probably benign	Het
Pcsk1	G	C	13: 75,258,947 (GRCm39)	M240I	probably damaging	Het
Pdc	T	A	1: 150,208,892 (GRCm39)	I125N	probably damaging	Het
Plch2	C	T	4: 155,082,729 (GRCm39)	G564S	probably benign	Het
Rasgrf1	G	T	9: 89,835,966 (GRCm39)	Q231H	probably damaging	Het
Riok1	T	A	13: 38,236,926 (GRCm39)	I389N	probably damaging	Het
Ror1	T	A	4: 100,160,135 (GRCm39)	S50R	probably benign	Het
Samd13	T	C	3: 146,352,070 (GRCm39)	T75A	probably benign	Het
Siglec1	G	A	2: 130,915,876 (GRCm39)	H1329Y	possibly damaging	Het
Siglec1	T	C	2: 130,925,932 (GRCm39)	N258S	probably damaging	Het
Slbp	G	A	5: 33,802,946 (GRCm39)	A126V	probably benign	Het
Slc12a4	A	T	8: 106,674,203 (GRCm39)		probably null	Het
Specc1	A	G	11: 62,019,218 (GRCm39)	I686V	possibly damaging	Het
Synpo2	C	A	3: 122,906,203 (GRCm39)	V1038F	probably damaging	Het
Tbk1	G	A	10: 121,397,550 (GRCm39)	T374I	probably benign	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tmem190	T	C	7: 4,787,132 (GRCm39)	L112P	probably damaging	Het
Tsc2	C	T	17: 24,816,042 (GRCm39)	R1715Q	probably damaging	Het
Ulbp3	A	T	10: 3,075,050 (GRCm39)		noncoding transcript	Het
Vmn1r46	T	C	6: 89,953,811 (GRCm39)	L220P	probably damaging	Het
Vwa3a	A	G	7: 120,392,609 (GRCm39)	Q816R	probably benign	Het
Zfhx4	T	C	3: 5,468,164 (GRCm39)	I2799T	probably benign	Het
Zfp105	T	C	9: 122,759,696 (GRCm39)	S456P	probably damaging	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
R1597:Cel	UTSW	2	28,450,479 (GRCm39)	splice site	probably benign
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'- CGAATGTCACAGCCCAGAACTTCAG -3'
(R):5'- AGGACATACCTCCCAAGGGAGC -3'

Sequencing Primer
(F):5'- TGCCATTCTCCAAGGTATAAGGG -3'
(R):5'- CCAAGGGAGCCCCCTAC -3'

Posted On

2014-05-14