Mutagenetix > Incidental Mutation

Incidental Mutation 'R5351:Ces1d'

423802

Institutional Source

Beutler Lab

Gene Symbol

Ces1d

Ensembl Gene

ENSMUSG00000056973

Gene Name

carboxylesterase 1D

Synonyms

Ces3, TGH

MMRRC Submission

042930-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5351 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93892700-93924432 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93904706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 345 (Y345H)

Ref Sequence

ENSEMBL: ENSMUSP00000034172 (fasta)

Gene Model

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

AlphaFold

Q8VCT4

Predicted Effect

probably damaging
Transcript: ENSMUST00000034172
AA Change: Y345H

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

SMART Domains

Protein: ENSMUSP00000034172
Gene: ENSMUSG00000056973
AA Change: Y345H

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: ENSMUST00000148340

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.2%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	T	A	3: 127,522,941 (GRCm39)	S34C	probably damaging	Het
Apol7e	T	G	15: 77,602,511 (GRCm39)	*370G	probably null	Het
Cacna2d4	T	C	6: 119,245,162 (GRCm39)	I290T	probably damaging	Het
Ceacam12	T	A	7: 17,801,159 (GRCm39)	V46D	probably damaging	Het
Cirbp	T	C	10: 80,006,136 (GRCm39)		probably benign	Het
Cnot8	T	A	11: 58,006,147 (GRCm39)	H225Q	probably damaging	Het
Fstl1	T	C	16: 37,649,542 (GRCm39)	V252A	probably damaging	Het
H2-T3	T	C	17: 36,500,965 (GRCm39)	Q17R	probably benign	Het
Htt	A	G	5: 34,961,177 (GRCm39)	Y268C	probably damaging	Het
Ildr2	T	C	1: 166,136,478 (GRCm39)	V439A	possibly damaging	Het
Lig1	T	C	7: 13,034,875 (GRCm39)	M557T	probably damaging	Het
Ltbp2	T	C	12: 84,837,132 (GRCm39)	E1229G	possibly damaging	Het
Mynn	C	T	3: 30,661,691 (GRCm39)	R258W	probably benign	Het
Nbas	T	A	12: 13,610,850 (GRCm39)	N2180K	probably damaging	Het
Or8j3c	A	G	2: 86,253,610 (GRCm39)	S137P	probably damaging	Het
Pcdh1	C	T	18: 38,330,819 (GRCm39)	G728D	probably damaging	Het
Pfas	T	C	11: 68,882,217 (GRCm39)	D882G	probably damaging	Het
Prkar2b	C	T	12: 32,022,126 (GRCm39)	G60R	probably damaging	Het
Prkdc	G	C	16: 15,649,176 (GRCm39)	V3717L	probably benign	Het
Prom1	A	T	5: 44,201,697 (GRCm39)	V250E	probably damaging	Het
Slc35d1	A	G	4: 103,047,036 (GRCm39)	L254P	probably damaging	Het
Srrt	T	C	5: 137,296,546 (GRCm39)	*239W	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Ttn	A	G	2: 76,773,385 (GRCm39)	V2339A	probably damaging	Het
Unc80	T	A	1: 66,645,672 (GRCm39)	S1449R	possibly damaging	Het
Vmn2r24	A	T	6: 123,793,223 (GRCm39)	K850M	possibly damaging	Het
Zfp516	A	G	18: 82,974,876 (GRCm39)	E358G	probably benign	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
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
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'- CTTCAAAAGGCTTCATCAAGGATTC -3'
(R):5'- ACAGGGCTCTTTGTGCTGAC -3'

Sequencing Primer
(F):5'- GGCTTCATCAAGGATTCTCCAAAC -3'
(R):5'- TGACCAAGCTTTCAGACATCCAGAG -3'

Posted On

2016-08-04