Mutagenetix > Incidental Mutation

Incidental Mutation 'R1470:Ces1d'

165825

Institutional Source

Beutler Lab

Gene Symbol

Ces1d

Ensembl Gene

ENSMUSG00000056973

Gene Name

carboxylesterase 1D

Synonyms

Ces3, TGH

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

93892700-93924432 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93921649 bp (GRCm39)

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
Aak1	T	A	6: 86,944,337 (GRCm39)	S749T	unknown	Het
Abcb4	A	T	5: 8,990,968 (GRCm39)	I843F	probably damaging	Het
Actr8	T	A	14: 29,708,926 (GRCm39)	H244Q	possibly damaging	Het
Adgrv1	A	G	13: 81,530,417 (GRCm39)	Y5886H	probably benign	Het
Agk	T	A	6: 40,363,751 (GRCm39)	W244R	probably damaging	Het
Ankrd11	C	A	8: 123,626,463 (GRCm39)	V161L	probably damaging	Het
Arap3	T	C	18: 38,122,249 (GRCm39)		probably null	Het
Armc3	A	G	2: 19,243,547 (GRCm39)	M88V	probably benign	Het
Atp13a5	G	T	16: 29,167,833 (GRCm39)	P109T	probably benign	Het
Avpr1b	T	A	1: 131,528,323 (GRCm39)	V282D	probably damaging	Het
Baz2b	T	C	2: 59,808,890 (GRCm39)	K120E	possibly damaging	Het
Bltp1	T	C	3: 37,052,480 (GRCm39)	M3060T	probably benign	Het
Cacng6	G	A	7: 3,473,404 (GRCm39)	C76Y	probably damaging	Het
Cactin	G	T	10: 81,158,985 (GRCm39)	E279*	probably null	Het
Car9	A	G	4: 43,510,222 (GRCm39)	Y268C	probably damaging	Het
Ccdc146	T	A	5: 21,524,564 (GRCm39)	I263F	probably damaging	Het
Cdh16	T	G	8: 105,345,003 (GRCm39)	S429R	probably benign	Het
Cep250	A	G	2: 155,832,995 (GRCm39)	E1639G	probably damaging	Het
Chd1	A	T	17: 15,946,545 (GRCm39)	Q97L	possibly damaging	Het
Ciita	G	A	16: 10,332,332 (GRCm39)	D898N	possibly damaging	Het
Clstn1	A	G	4: 149,719,179 (GRCm39)	N336S	possibly damaging	Het
Cntnap5a	A	G	1: 116,187,249 (GRCm39)	D607G	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col20a1	C	T	2: 180,636,753 (GRCm39)	H245Y	probably benign	Het
Coq8b	A	T	7: 26,951,734 (GRCm39)	T399S	probably benign	Het
Cpn2	A	G	16: 30,079,003 (GRCm39)	S233P	probably benign	Het
Cryz	G	A	3: 154,312,113 (GRCm39)	G70D	probably damaging	Het
Def6	T	A	17: 28,444,956 (GRCm39)	D451E	possibly damaging	Het
Dnah8	T	A	17: 30,966,251 (GRCm39)	C2480*	probably null	Het
Dnah9	T	C	11: 65,818,648 (GRCm39)	N3230S	probably benign	Het
Dyrk4	G	T	6: 126,893,337 (GRCm39)	S15*	probably null	Het
Erc1	T	C	6: 119,671,563 (GRCm39)	R917G	probably damaging	Het
Frem3	G	T	8: 81,337,820 (GRCm39)	V38L	probably benign	Het
Gas2l3	T	C	10: 89,249,796 (GRCm39)	I441V	probably benign	Het
Gm14393	T	A	2: 174,905,774 (GRCm39)	Y6F	probably damaging	Het
Gm1527	A	G	3: 28,969,417 (GRCm39)	K256E	possibly damaging	Het
Gm21905	G	T	5: 68,103,740 (GRCm39)		probably benign	Het
Gtf2ird1	T	A	5: 134,424,656 (GRCm39)		probably null	Het
Hmces	C	A	6: 87,913,121 (GRCm39)	T292K	probably benign	Het
Hpse2	G	A	19: 43,376,692 (GRCm39)	S20L	probably benign	Het
Ift70b	G	T	2: 75,768,155 (GRCm39)	S199R	probably benign	Het
Ikbke	A	T	1: 131,204,224 (GRCm39)	V23E	probably null	Het
Ino80	A	T	2: 119,210,130 (GRCm39)	V1387E	probably damaging	Het
Islr	G	T	9: 58,064,589 (GRCm39)	A306D	probably damaging	Het
Jakmip1	G	A	5: 37,258,182 (GRCm39)	G276D	probably damaging	Het
Jchain	A	G	5: 88,673,979 (GRCm39)	V55A	probably benign	Het
Kalrn	T	C	16: 34,007,841 (GRCm39)	K1350E	probably damaging	Het
Kansl1l	T	C	1: 66,841,156 (GRCm39)	Q48R	possibly damaging	Het
Kmt5a	T	C	5: 124,585,334 (GRCm39)	L23P	probably damaging	Het
Lrba	C	T	3: 86,644,449 (GRCm39)	H381Y	probably damaging	Het
Lrrc32	T	C	7: 98,148,564 (GRCm39)	V448A	probably benign	Het
Mapkbp1	T	C	2: 119,848,301 (GRCm39)	M617T	probably damaging	Het
Mfap1a	T	C	2: 121,333,282 (GRCm39)	M50V	probably benign	Het
Mgam	G	T	6: 40,736,062 (GRCm39)	A854S	probably damaging	Het
Myo18b	C	A	5: 112,840,899 (GRCm39)	R2298L	probably damaging	Het
Myo1h	T	A	5: 114,457,765 (GRCm39)	M92K	probably damaging	Het
Nlrp2	T	A	7: 5,303,950 (GRCm39)	T192S	probably benign	Het
Nr2f1	A	T	13: 78,346,284 (GRCm39)	Y137N	possibly damaging	Het
Nup98	T	A	7: 101,796,513 (GRCm39)	D841V	probably damaging	Het
Nvl	A	G	1: 180,966,827 (GRCm39)	V59A	probably damaging	Het
Ogdhl	C	A	14: 32,068,745 (GRCm39)	N948K	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or12j3	A	G	7: 139,953,026 (GRCm39)	S166P	probably benign	Het
Or13a24	A	G	7: 140,154,662 (GRCm39)	T199A	probably benign	Het
Or51g1	A	C	7: 102,633,530 (GRCm39)	Y280*	probably null	Het
Osgin1	G	A	8: 120,171,704 (GRCm39)	R166H	probably damaging	Het
Palb2	A	T	7: 121,706,746 (GRCm39)	F741I	probably benign	Het
Palb2	G	T	7: 121,706,747 (GRCm39)	Y740*	probably null	Het
Parvb	G	A	15: 84,155,509 (GRCm39)	D65N	probably benign	Het
Parvb	G	A	15: 84,155,453 (GRCm39)	G46D	probably damaging	Het
Pcsk2	A	T	2: 143,388,438 (GRCm39)	K10*	probably null	Het
Pde3a	C	T	6: 141,411,932 (GRCm39)	A502V	probably benign	Het
Pfas	T	C	11: 68,882,185 (GRCm39)	I893V	probably benign	Het
Pla2g4a	A	T	1: 149,716,471 (GRCm39)	D663E	probably damaging	Het
Prickle2	G	A	6: 92,435,583 (GRCm39)	P6L	probably damaging	Het
Prx	T	A	7: 27,217,026 (GRCm39)	M648K	probably benign	Het
Ptpn21	T	C	12: 98,654,735 (GRCm39)	N744S	probably benign	Het
Ptprq	C	T	10: 107,554,435 (GRCm39)	V97M	probably damaging	Het
Pvr	T	C	7: 19,652,549 (GRCm39)	E122G	possibly damaging	Het
Racgap1	T	C	15: 99,537,656 (GRCm39)	K15E	probably damaging	Het
Rock1	C	T	18: 10,136,091 (GRCm39)		probably null	Het
Rorc	T	A	3: 94,304,609 (GRCm39)	Y331*	probably null	Het
Rpl37	T	C	15: 5,148,096 (GRCm39)	V91A	probably benign	Het
Rrp36	T	A	17: 46,983,306 (GRCm39)	K103*	probably null	Het
Ryr3	T	A	2: 112,483,352 (GRCm39)	M4142L	probably benign	Het
Sash1	A	T	10: 8,665,357 (GRCm39)	L125H	probably damaging	Het
Scn5a	T	C	9: 119,365,541 (GRCm39)	M369V	possibly damaging	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Sfi1	C	CT	11: 3,096,255 (GRCm39)		probably null	Het
Siglec1	A	T	2: 130,912,307 (GRCm39)	N1678K	probably benign	Het
Slc15a5	A	T	6: 138,049,992 (GRCm39)	V141E	probably benign	Het
Slc8a3	A	T	12: 81,246,484 (GRCm39)	H856Q	probably benign	Het
Sptlc2	T	A	12: 87,402,414 (GRCm39)	M171L	probably benign	Het
Srcap	T	A	7: 127,158,899 (GRCm39)		probably benign	Het
St6gal2	A	G	17: 55,797,944 (GRCm39)	D310G	probably damaging	Het
Susd2	T	A	10: 75,473,888 (GRCm39)	D689V	probably damaging	Het
Suz12	A	T	11: 79,910,558 (GRCm39)	E303V	possibly damaging	Het
Taldo1	C	A	7: 140,978,500 (GRCm39)	T150K	probably damaging	Het
Tg	T	A	15: 66,721,312 (GRCm39)	F274I	possibly damaging	Het
Tmem151b	T	C	17: 45,856,663 (GRCm39)	D259G	probably damaging	Het
Tmem179	G	T	12: 112,468,288 (GRCm39)	H64Q	probably benign	Het
Tmem236	A	G	2: 14,223,732 (GRCm39)	T174A	probably benign	Het
Tnc	A	T	4: 63,884,811 (GRCm39)	N1821K	probably damaging	Het
Tnfrsf11a	A	G	1: 105,752,773 (GRCm39)	N261S	probably damaging	Het
Trank1	C	A	9: 111,172,300 (GRCm39)	F96L	possibly damaging	Het
Trim56	T	A	5: 137,142,017 (GRCm39)	I500F	probably damaging	Het
Ttll5	A	G	12: 85,926,168 (GRCm39)	I321V	possibly damaging	Het
Ttn	C	A	2: 76,608,367 (GRCm39)	W17852L	probably damaging	Het
Twnk	G	A	19: 44,997,820 (GRCm39)	V450M	probably damaging	Het
Uba52	A	G	8: 70,962,206 (GRCm39)	I127T	possibly damaging	Het
Ubr4	T	A	4: 139,148,537 (GRCm39)		probably null	Het
Uggt1	A	T	1: 36,215,877 (GRCm39)	M130K	probably benign	Het
Ulk4	T	A	9: 120,910,722 (GRCm39)	T1101S	probably benign	Het
Urb1	A	G	16: 90,548,902 (GRCm39)	S2269P	probably benign	Het
Ush2a	G	T	1: 188,132,403 (GRCm39)	R875L	probably benign	Het
Usp9y	T	A	Y: 1,332,471 (GRCm39)	H1624L	probably benign	Het
Vipr1	T	C	9: 121,494,586 (GRCm39)	L308S	possibly damaging	Het
Xdh	T	G	17: 74,198,107 (GRCm39)	K1260T	probably damaging	Het
Yipf4	A	G	17: 74,800,963 (GRCm39)	I94V	probably benign	Het
Zfhx4	A	G	3: 5,478,206 (GRCm39)	*3582W	probably null	Het
Zfp58	T	C	13: 67,640,144 (GRCm39)	N116D	possibly damaging	Het
Zfp750	C	A	11: 121,402,819 (GRCm39)	R643L	probably benign	Het
Znfx1	A	G	2: 166,884,507 (GRCm39)	V51A	possibly damaging	Het

Other mutations in Ces1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01592:Ces1d	APN	8	93,921,717 (GRCm39)	splice site	probably benign
IGL01707:Ces1d	APN	8	93,916,178 (GRCm39)	missense	possibly damaging	0.57
IGL01753:Ces1d	APN	8	93,919,438 (GRCm39)	missense	probably damaging	1.00
IGL01918:Ces1d	APN	8	93,904,703 (GRCm39)	missense	probably benign	0.00
IGL02730:Ces1d	APN	8	93,912,644 (GRCm39)	missense	probably benign
IGL02819:Ces1d	APN	8	93,896,346 (GRCm39)	splice site	probably null
IGL02824:Ces1d	APN	8	93,896,346 (GRCm39)	splice site	probably null
IGL02825:Ces1d	APN	8	93,896,346 (GRCm39)	splice site	probably null
IGL02858:Ces1d	APN	8	93,896,346 (GRCm39)	splice site	probably null
IGL02877:Ces1d	APN	8	93,896,346 (GRCm39)	splice site	probably null
IGL02946:Ces1d	APN	8	93,896,346 (GRCm39)	splice site	probably null
IGL02990:Ces1d	APN	8	93,896,346 (GRCm39)	splice site	probably null
IGL03024:Ces1d	APN	8	93,896,346 (GRCm39)	splice site	probably null
IGL03080:Ces1d	APN	8	93,896,346 (GRCm39)	splice site	probably null
IGL03081:Ces1d	APN	8	93,896,346 (GRCm39)	splice site	probably null
IGL03082:Ces1d	APN	8	93,896,346 (GRCm39)	splice site	probably null
IGL03096:Ces1d	APN	8	93,904,670 (GRCm39)	missense	probably benign	0.01
IGL03165:Ces1d	APN	8	93,916,147 (GRCm39)	missense	probably benign	0.02
IGL03233:Ces1d	APN	8	93,921,707 (GRCm39)	missense	probably benign
IGL03263:Ces1d	APN	8	93,896,346 (GRCm39)	splice site	probably null
IGL03310:Ces1d	APN	8	93,901,816 (GRCm39)	splice site	probably benign
IGL03338:Ces1d	APN	8	93,896,346 (GRCm39)	splice site	probably null
IGL03357:Ces1d	APN	8	93,896,346 (GRCm39)	splice site	probably null
R0125:Ces1d	UTSW	8	93,901,810 (GRCm39)	splice site	probably benign
R0393:Ces1d	UTSW	8	93,919,400 (GRCm39)	missense	probably damaging	1.00
R0483:Ces1d	UTSW	8	93,924,307 (GRCm39)	missense	probably benign
R0746:Ces1d	UTSW	8	93,916,096 (GRCm39)	missense	probably damaging	1.00
R1470:Ces1d	UTSW	8	93,921,649 (GRCm39)	missense	possibly damaging	0.50
R1607:Ces1d	UTSW	8	93,912,746 (GRCm39)	missense	probably benign	0.08
R1879:Ces1d	UTSW	8	93,916,126 (GRCm39)	missense	probably benign	0.35
R2881:Ces1d	UTSW	8	93,921,659 (GRCm39)	missense	probably damaging	1.00
R3870:Ces1d	UTSW	8	93,901,714 (GRCm39)	missense	probably benign	0.15
R4004:Ces1d	UTSW	8	93,904,720 (GRCm39)	missense	probably benign	0.03
R4573:Ces1d	UTSW	8	93,908,162 (GRCm39)	missense	probably benign	0.00
R4647:Ces1d	UTSW	8	93,893,038 (GRCm39)	missense	probably damaging	1.00
R4985:Ces1d	UTSW	8	93,901,772 (GRCm39)	missense	possibly damaging	0.61
R5080:Ces1d	UTSW	8	93,908,175 (GRCm39)	missense	probably benign	0.02
R5209:Ces1d	UTSW	8	93,901,816 (GRCm39)	splice site	probably benign
R5351:Ces1d	UTSW	8	93,904,706 (GRCm39)	missense	probably damaging	1.00
R5433:Ces1d	UTSW	8	93,912,664 (GRCm39)	missense	probably benign	0.02
R5614:Ces1d	UTSW	8	93,902,832 (GRCm39)	missense	probably benign	0.00
R5722:Ces1d	UTSW	8	93,904,756 (GRCm39)	missense	probably benign	0.01
R6257:Ces1d	UTSW	8	93,893,025 (GRCm39)	missense	probably benign	0.03
R7238:Ces1d	UTSW	8	93,904,763 (GRCm39)	missense	probably benign	0.01
R7410:Ces1d	UTSW	8	93,919,433 (GRCm39)	missense	probably damaging	1.00
R7489:Ces1d	UTSW	8	93,904,759 (GRCm39)	missense	probably damaging	1.00
R7563:Ces1d	UTSW	8	93,904,667 (GRCm39)	missense	probably benign	0.25
R7827:Ces1d	UTSW	8	93,924,294 (GRCm39)	critical splice donor site	probably null
R7853:Ces1d	UTSW	8	93,901,695 (GRCm39)	missense	probably benign	0.29
R7860:Ces1d	UTSW	8	93,897,765 (GRCm39)	missense	probably benign	0.08
R8202:Ces1d	UTSW	8	93,919,495 (GRCm39)	missense	probably benign	0.08
R8282:Ces1d	UTSW	8	93,912,740 (GRCm39)	missense	possibly damaging	0.83
R8968:Ces1d	UTSW	8	93,914,383 (GRCm39)	missense	probably damaging	1.00
R8981:Ces1d	UTSW	8	93,919,457 (GRCm39)	missense	probably benign	0.00
R9143:Ces1d	UTSW	8	93,912,707 (GRCm39)	missense	probably damaging	1.00
R9378:Ces1d	UTSW	8	93,912,724 (GRCm39)	missense	probably damaging	0.96
RF014:Ces1d	UTSW	8	93,902,793 (GRCm39)	critical splice donor site	probably null
Z1088:Ces1d	UTSW	8	93,901,736 (GRCm39)	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