Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02990:Ces1d'

406903

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ces1d

Ensembl Gene

ENSMUSG00000056973

Gene Name

carboxylesterase 1D

Synonyms

TGH, Ces3

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02990

Quality Score

Status

Chromosome

Chromosomal Location

93166068-93197838 bp(-) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

C to A at 93169718 bp (GRCm38)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12b	G	T	11: 69,163,206	V205F	probably benign	Het
Ampd3	T	C	7: 110,807,963		probably benign	Het
Arhgef18	G	A	8: 3,444,904	V388I	probably benign	Het
Atp6v1c2	C	T	12: 17,294,740	V169I	probably damaging	Het
Ccdc88b	G	T	19: 6,847,409	L1328I	probably damaging	Het
Cluh	G	A	11: 74,667,765		probably null	Het
Cpsf7	C	A	19: 10,531,795	N23K	probably benign	Het
Cyp4x1	A	T	4: 115,121,749	F191L	probably benign	Het
Dcn	A	G	10: 97,509,973	T216A	probably benign	Het
Dirc2	C	A	16: 35,735,491	V200F	possibly damaging	Het
Drosha	C	T	15: 12,827,267		probably benign	Het
Foxn4	A	G	5: 114,272,989	S24P	probably damaging	Het
Gm11733	A	T	11: 117,486,983		probably null	Het
Hapln1	A	C	13: 89,601,606	Y90S	probably benign	Het
Igf2r	C	A	17: 12,710,746		probably benign	Het
Jade2	A	G	11: 51,831,247		probably benign	Het
Kcnh7	A	T	2: 62,705,986	L1084H	probably benign	Het
Kif1a	T	C	1: 93,039,263	D1155G	probably damaging	Het
Llgl2	A	G	11: 115,854,333	M958V	probably benign	Het
Lrp2	A	G	2: 69,441,396	V4064A	possibly damaging	Het
Mau2	A	G	8: 70,022,255		probably benign	Het
Mllt10	T	C	2: 18,123,711		probably benign	Het
Myo15	A	G	11: 60,479,440	T1009A	probably benign	Het
Myo6	T	C	9: 80,276,403		probably null	Het
Neil2	G	T	14: 63,191,809	H12N	possibly damaging	Het
Nrde2	T	C	12: 100,142,096	E412G	probably damaging	Het
Olfr114	C	T	17: 37,589,668	M228I	probably benign	Het
Olfr1220	T	C	2: 89,097,129	Y266C	possibly damaging	Het
Patl2	T	G	2: 122,124,497		probably null	Het
Pkhd1	T	C	1: 20,522,963	H1642R	possibly damaging	Het
Ppp6r1	A	G	7: 4,643,023	I199T	possibly damaging	Het
Prom2	T	A	2: 127,528,814	T817S	probably benign	Het
Slc9b1	A	G	3: 135,394,983		probably null	Het
Sv2c	A	T	13: 96,088,378	I141K	probably damaging	Het
Tas2r139	A	T	6: 42,141,104	I57F	probably damaging	Het
Tep1	A	G	14: 50,868,246	S106P	possibly damaging	Het
Tnni3k	T	C	3: 154,957,758	D319G	probably benign	Het
Tom1l2	C	T	11: 60,230,236	D461N	probably damaging	Het
Ugt1a10	T	C	1: 88,055,879	L133S	probably damaging	Het
Usf2	T	G	7: 30,955,307	Q161P	probably benign	Het
Vmn1r15	A	G	6: 57,258,608	T154A	probably benign	Het
Vmn2r95	C	A	17: 18,452,036	Y678*	probably null	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
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
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

Posted On

2016-08-02