Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02877:Ces1d'

362683

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ces1d

Ensembl Gene

ENSMUSG00000056973

Gene Name

carboxylesterase 1D

Synonyms

Ces3, TGH

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02877

Quality Score

Status

Chromosome

Chromosomal Location

93892700-93924432 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

C to A at 93896346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034172 (fasta)

Gene Model

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

AlphaFold

Q8VCT4

Predicted Effect

probably null
Transcript: ENSMUST00000034172

SMART Domains

Protein: ENSMUSP00000034172
Gene: ENSMUSG00000056973

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

probably null
Transcript: ENSMUST00000034172

SMART Domains

Protein: ENSMUSP00000034172
Gene: ENSMUSG00000056973

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: ENSMUST00000143256

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148340

Coding Region Coverage

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
Aass	A	T	6: 23,078,875 (GRCm39)	Y712*	probably null	Het
Adcy5	A	G	16: 35,118,970 (GRCm39)	D1107G	probably damaging	Het
Ankhd1	C	A	18: 36,727,876 (GRCm39)	T504K	probably damaging	Het
Asb18	C	T	1: 89,880,533 (GRCm39)	C160Y	possibly damaging	Het
Capn13	A	G	17: 73,629,050 (GRCm39)	S586P	probably damaging	Het
Cdhr2	A	T	13: 54,882,550 (GRCm39)	T1199S	probably benign	Het
Cnot8	A	G	11: 58,002,228 (GRCm39)	E87G	probably benign	Het
Crnkl1	C	A	2: 145,762,591 (GRCm39)	E525*	probably null	Het
Eif2d	T	C	1: 131,092,854 (GRCm39)		probably benign	Het
Flywch1	A	G	17: 23,979,388 (GRCm39)	S416P	probably damaging	Het
Glcci1	T	C	6: 8,582,757 (GRCm39)	S373P	probably damaging	Het
Gli3	A	G	13: 15,899,327 (GRCm39)	R905G	probably damaging	Het
Hcn4	T	C	9: 58,766,450 (GRCm39)	V706A	unknown	Het
Ift74	T	C	4: 94,513,018 (GRCm39)		probably null	Het
Ighv8-6	A	T	12: 115,129,700 (GRCm39)	S19T	probably damaging	Het
Knl1	T	A	2: 118,919,312 (GRCm39)	N1821K	probably benign	Het
Msx1	G	A	5: 37,981,344 (GRCm39)	P112S	possibly damaging	Het
Nes	A	G	3: 87,882,968 (GRCm39)	D409G	probably benign	Het
Nsmf	A	T	2: 24,945,968 (GRCm39)	I152F	possibly damaging	Het
Nt5c1a	T	A	4: 123,109,867 (GRCm39)	I322N	probably damaging	Het
Or7g27	T	C	9: 19,250,497 (GRCm39)	V247A	possibly damaging	Het
Pnpla8	A	G	12: 44,330,248 (GRCm39)	T49A	probably benign	Het
Ptx3	A	G	3: 66,132,196 (GRCm39)	Y239C	probably damaging	Het
Rarg	G	T	15: 102,150,374 (GRCm39)		probably null	Het
Slc33a1	G	A	3: 63,850,806 (GRCm39)	T506I	probably benign	Het
Spem2	T	G	11: 69,708,521 (GRCm39)	H148P	probably benign	Het
Trim24	A	G	6: 37,942,581 (GRCm39)	D961G	probably damaging	Het
Vmn2r14	G	A	5: 109,368,054 (GRCm39)	H313Y	probably 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
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
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

Posted On

2015-12-18