Mutagenetix > Incidental Mutation

Incidental Mutation 'R1470:Ces1d'

165825

Institutional Source

Beutler Lab

Gene Symbol

Ces1d

Ensembl Gene

ENSMUSG00000056973

Gene Name

carboxylesterase 1D

Synonyms

TGH, Ces3

MMRRC Submission

039523-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1470 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93166068-93197838 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93195021 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 38 (V38D)

Ref Sequence

ENSEMBL: ENSMUSP00000034172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034172]

AlphaFold

Q8VCT4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034172
AA Change: V38D

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000034172
Gene: ENSMUSG00000056973
AA Change: V38D

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	545	4.9e-169	PFAM
Pfam:Abhydrolase_3	136	256	8.1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129987

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212413

Meta Mutation Damage Score

0.3777

Coding Region Coverage

1x: 99.7%
3x: 98.4%
10x: 90.6%
20x: 68.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. Mutations of this gene cause carboxylesterase 1 deficiency. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased blood lipids, improved glucose tolerance, and increased energy expenditure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,998,331	M3060T	probably benign	Het
Aak1	T	A	6: 86,967,355	S749T	unknown	Het
Abcb4	A	T	5: 8,940,968	I843F	probably damaging	Het
Actr8	T	A	14: 29,986,969	H244Q	possibly damaging	Het
Adgrv1	A	G	13: 81,382,298	Y5886H	probably benign	Het
Agk	T	A	6: 40,386,817	W244R	probably damaging	Het
Ankrd11	C	A	8: 122,899,724	V161L	probably damaging	Het
Arap3	T	C	18: 37,989,196		probably null	Het
Armc3	A	G	2: 19,238,736	M88V	probably benign	Het
Atp13a5	G	T	16: 29,349,015	P109T	probably benign	Het
Avpr1b	T	A	1: 131,600,585	V282D	probably damaging	Het
Baz2b	T	C	2: 59,978,546	K120E	possibly damaging	Het
Cacng6	G	A	7: 3,424,888	C76Y	probably damaging	Het
Cactin	G	T	10: 81,323,151	E279*	probably null	Het
Car9	A	G	4: 43,510,222	Y268C	probably damaging	Het
Ccdc146	T	A	5: 21,319,566	I263F	probably damaging	Het
Cdh16	T	G	8: 104,618,371	S429R	probably benign	Het
Cep250	A	G	2: 155,991,075	E1639G	probably damaging	Het
Chd1	A	T	17: 15,726,283	Q97L	possibly damaging	Het
Ciita	G	A	16: 10,514,468	D898N	possibly damaging	Het
Clstn1	A	G	4: 149,634,722	N336S	possibly damaging	Het
Cntnap5a	A	G	1: 116,259,519	D607G	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Col20a1	C	T	2: 180,994,960	H245Y	probably benign	Het
Coq8b	A	T	7: 27,252,309	T399S	probably benign	Het
Cpn2	A	G	16: 30,260,185	S233P	probably benign	Het
Cryz	G	A	3: 154,606,476	G70D	probably damaging	Het
Def6	T	A	17: 28,225,982	D451E	possibly damaging	Het
Dnah8	T	A	17: 30,747,277	C2480*	probably null	Het
Dnah9	T	C	11: 65,927,822	N3230S	probably benign	Het
Dyrk4	G	T	6: 126,916,374	S15*	probably null	Het
Erc1	T	C	6: 119,694,602	R917G	probably damaging	Het
Frem3	G	T	8: 80,611,191	V38L	probably benign	Het
Gas2l3	T	C	10: 89,413,934	I441V	probably benign	Het
Gm14393	T	A	2: 175,063,981	Y6F	probably damaging	Het
Gm1527	A	G	3: 28,915,268	K256E	possibly damaging	Het
Gm21905	G	T	5: 67,946,397		probably benign	Het
Gtf2ird1	T	A	5: 134,395,802		probably null	Het
Hmces	C	A	6: 87,936,139	T292K	probably benign	Het
Hpse2	G	A	19: 43,388,253	S20L	probably benign	Het
Ikbke	A	T	1: 131,276,487	V23E	probably null	Het
Ino80	A	T	2: 119,379,649	V1387E	probably damaging	Het
Islr	G	T	9: 58,157,306	A306D	probably damaging	Het
Jakmip1	G	A	5: 37,100,838	G276D	probably damaging	Het
Jchain	A	G	5: 88,526,120	V55A	probably benign	Het
Kalrn	T	C	16: 34,187,471	K1350E	probably damaging	Het
Kansl1l	T	C	1: 66,801,997	Q48R	possibly damaging	Het
Kmt5a	T	C	5: 124,447,271	L23P	probably damaging	Het
Lrba	C	T	3: 86,737,142	H381Y	probably damaging	Het
Lrrc32	T	C	7: 98,499,357	V448A	probably benign	Het
Mapkbp1	T	C	2: 120,017,820	M617T	probably damaging	Het
Mfap1a	T	C	2: 121,502,801	M50V	probably benign	Het
Mgam	G	T	6: 40,759,128	A854S	probably damaging	Het
Myo18b	C	A	5: 112,693,033	R2298L	probably damaging	Het
Myo1h	T	A	5: 114,319,704	M92K	probably damaging	Het
Nlrp2	T	A	7: 5,300,951	T192S	probably benign	Het
Nr2f1	A	T	13: 78,198,165	Y137N	possibly damaging	Het
Nup98	T	A	7: 102,147,306	D841V	probably damaging	Het
Nvl	A	G	1: 181,139,262	V59A	probably damaging	Het
Ogdhl	C	A	14: 32,346,788	N948K	probably damaging	Het
Olfr530	A	G	7: 140,373,113	S166P	probably benign	Het
Olfr538	A	G	7: 140,574,749	T199A	probably benign	Het
Olfr578	A	C	7: 102,984,323	Y280*	probably null	Het
Olfr743	T	C	14: 50,533,702	S97P	possibly damaging	Het
Osgin1	G	A	8: 119,444,965	R166H	probably damaging	Het
Palb2	A	T	7: 122,107,523	F741I	probably benign	Het
Palb2	G	T	7: 122,107,524	Y740*	probably null	Het
Parvb	G	A	15: 84,271,308	D65N	probably benign	Het
Parvb	G	A	15: 84,271,252	G46D	probably damaging	Het
Pcsk2	A	T	2: 143,546,518	K10*	probably null	Het
Pde3a	C	T	6: 141,466,206	A502V	probably benign	Het
Pfas	T	C	11: 68,991,359	I893V	probably benign	Het
Pla2g4a	A	T	1: 149,840,720	D663E	probably damaging	Het
Prickle2	G	A	6: 92,458,602	P6L	probably damaging	Het
Prx	T	A	7: 27,517,601	M648K	probably benign	Het
Ptpn21	T	C	12: 98,688,476	N744S	probably benign	Het
Ptprq	C	T	10: 107,718,574	V97M	probably damaging	Het
Pvr	T	C	7: 19,918,624	E122G	possibly damaging	Het
Racgap1	T	C	15: 99,639,775	K15E	probably damaging	Het
Rock1	C	T	18: 10,136,091		probably null	Het
Rorc	T	A	3: 94,397,302	Y331*	probably null	Het
Rpl37	T	C	15: 5,118,614	V91A	probably benign	Het
Rrp36	T	A	17: 46,672,380	K103*	probably null	Het
Ryr3	T	A	2: 112,653,007	M4142L	probably benign	Het
Sash1	A	T	10: 8,789,593	L125H	probably damaging	Het
Scn5a	T	C	9: 119,536,475	M369V	possibly damaging	Het
Sfi1	TCGC	TC	11: 3,146,254		probably null	Het
Sfi1	C	CT	11: 3,146,255		probably null	Het
Siglec1	A	T	2: 131,070,387	N1678K	probably benign	Het
Slc15a5	A	T	6: 138,072,994	V141E	probably benign	Het
Slc8a3	A	T	12: 81,199,710	H856Q	probably benign	Het
Sptlc2	T	A	12: 87,355,640	M171L	probably benign	Het
Srcap	T	A	7: 127,559,727		probably benign	Het
St6gal2	A	G	17: 55,490,943	D310G	probably damaging	Het
Susd2	T	A	10: 75,638,054	D689V	probably damaging	Het
Suz12	A	T	11: 80,019,732	E303V	possibly damaging	Het
Taldo1	C	A	7: 141,398,587	T150K	probably damaging	Het
Tg	T	A	15: 66,849,463	F274I	possibly damaging	Het
Tmem151b	T	C	17: 45,545,737	D259G	probably damaging	Het
Tmem179	G	T	12: 112,501,854	H64Q	probably benign	Het
Tmem236	A	G	2: 14,218,921	T174A	probably benign	Het
Tnc	A	T	4: 63,966,574	N1821K	probably damaging	Het
Tnfrsf11a	A	G	1: 105,825,048	N261S	probably damaging	Het
Trank1	C	A	9: 111,343,232	F96L	possibly damaging	Het
Trim56	T	A	5: 137,113,163	I500F	probably damaging	Het
Ttc30b	G	T	2: 75,937,811	S199R	probably benign	Het
Ttll5	A	G	12: 85,879,394	I321V	possibly damaging	Het
Ttn	C	A	2: 76,778,023	W17852L	probably damaging	Het
Twnk	G	A	19: 45,009,381	V450M	probably damaging	Het
Uba52	A	G	8: 70,509,556	I127T	possibly damaging	Het
Ubr4	T	A	4: 139,421,226		probably null	Het
Uggt1	A	T	1: 36,176,796	M130K	probably benign	Het
Ulk4	T	A	9: 121,081,656	T1101S	probably benign	Het
Urb1	A	G	16: 90,752,014	S2269P	probably benign	Het
Ush2a	G	T	1: 188,400,206	R875L	probably benign	Het
Usp9y	T	A	Y: 1,332,471	H1624L	probably benign	Het
Vipr1	T	C	9: 121,665,520	L308S	possibly damaging	Het
Xdh	T	G	17: 73,891,112	K1260T	probably damaging	Het
Yipf4	A	G	17: 74,493,968	I94V	probably benign	Het
Zfhx4	A	G	3: 5,413,146	*3582W	probably null	Het
Zfp58	T	C	13: 67,492,025	N116D	possibly damaging	Het
Zfp750	C	A	11: 121,511,993	R643L	probably benign	Het
Znfx1	A	G	2: 167,042,587	V51A	possibly damaging	Het

Other mutations in Ces1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01592:Ces1d	APN	8	93195089	splice site	probably benign
IGL01707:Ces1d	APN	8	93189550	missense	possibly damaging	0.57
IGL01753:Ces1d	APN	8	93192810	missense	probably damaging	1.00
IGL01918:Ces1d	APN	8	93178075	missense	probably benign	0.00
IGL02730:Ces1d	APN	8	93186016	missense	probably benign
IGL02819:Ces1d	APN	8	93169718	splice site	probably null
IGL02824:Ces1d	APN	8	93169718	splice site	probably null
IGL02825:Ces1d	APN	8	93169718	splice site	probably null
IGL02858:Ces1d	APN	8	93169718	splice site	probably null
IGL02877:Ces1d	APN	8	93169718	splice site	probably null
IGL02946:Ces1d	APN	8	93169718	splice site	probably null
IGL02990:Ces1d	APN	8	93169718	splice site	probably null
IGL03024:Ces1d	APN	8	93169718	splice site	probably null
IGL03080:Ces1d	APN	8	93169718	splice site	probably null
IGL03081:Ces1d	APN	8	93169718	splice site	probably null
IGL03082:Ces1d	APN	8	93169718	splice site	probably null
IGL03096:Ces1d	APN	8	93178042	missense	probably benign	0.01
IGL03165:Ces1d	APN	8	93189519	missense	probably benign	0.02
IGL03233:Ces1d	APN	8	93195079	missense	probably benign
IGL03263:Ces1d	APN	8	93169718	splice site	probably null
IGL03310:Ces1d	APN	8	93175188	splice site	probably benign
IGL03338:Ces1d	APN	8	93169718	splice site	probably null
IGL03357:Ces1d	APN	8	93169718	splice site	probably null
R0125:Ces1d	UTSW	8	93175182	splice site	probably benign
R0393:Ces1d	UTSW	8	93192772	missense	probably damaging	1.00
R0483:Ces1d	UTSW	8	93197679	missense	probably benign
R0746:Ces1d	UTSW	8	93189468	missense	probably damaging	1.00
R1470:Ces1d	UTSW	8	93195021	missense	possibly damaging	0.50
R1607:Ces1d	UTSW	8	93186118	missense	probably benign	0.08
R1879:Ces1d	UTSW	8	93189498	missense	probably benign	0.35
R2881:Ces1d	UTSW	8	93195031	missense	probably damaging	1.00
R3870:Ces1d	UTSW	8	93175086	missense	probably benign	0.15
R4004:Ces1d	UTSW	8	93178092	missense	probably benign	0.03
R4573:Ces1d	UTSW	8	93181534	missense	probably benign	0.00
R4647:Ces1d	UTSW	8	93166410	missense	probably damaging	1.00
R4985:Ces1d	UTSW	8	93175144	missense	possibly damaging	0.61
R5080:Ces1d	UTSW	8	93181547	missense	probably benign	0.02
R5209:Ces1d	UTSW	8	93175188	splice site	probably benign
R5351:Ces1d	UTSW	8	93178078	missense	probably damaging	1.00
R5433:Ces1d	UTSW	8	93186036	missense	probably benign	0.02
R5614:Ces1d	UTSW	8	93176204	missense	probably benign	0.00
R5722:Ces1d	UTSW	8	93178128	missense	probably benign	0.01
R6257:Ces1d	UTSW	8	93166397	missense	probably benign	0.03
R7238:Ces1d	UTSW	8	93178135	missense	probably benign	0.01
R7410:Ces1d	UTSW	8	93192805	missense	probably damaging	1.00
R7489:Ces1d	UTSW	8	93178131	missense	probably damaging	1.00
R7563:Ces1d	UTSW	8	93178039	missense	probably benign	0.25
R7827:Ces1d	UTSW	8	93197666	critical splice donor site	probably null
R7853:Ces1d	UTSW	8	93175067	missense	probably benign	0.29
R7860:Ces1d	UTSW	8	93171137	missense	probably benign	0.08
R8202:Ces1d	UTSW	8	93192867	missense	probably benign	0.08
R8282:Ces1d	UTSW	8	93186112	missense	possibly damaging	0.83
R8968:Ces1d	UTSW	8	93187755	missense	probably damaging	1.00
R8981:Ces1d	UTSW	8	93192829	missense	probably benign	0.00
R9143:Ces1d	UTSW	8	93186079	missense	probably damaging	1.00
R9378:Ces1d	UTSW	8	93186096	missense	probably damaging	0.96
RF014:Ces1d	UTSW	8	93176165	critical splice donor site	probably null
Z1088:Ces1d	UTSW	8	93175108	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCCAAGAGAAGAAACACTGACTGC -3'
(R):5'- ACTTAGGCTGGATGCTTTTAAGACACC -3'

Sequencing Primer
(F):5'- GACTGCACTGACATTCTTTAGG -3'
(R):5'- gaagcaaatgagacctggaag -3'

Posted On

2014-03-28