Mutagenetix > Incidental Mutation

Incidental Mutation 'R0483:Ces1d'

42122

Institutional Source

Beutler Lab

Gene Symbol

Ces1d

Ensembl Gene

ENSMUSG00000056973

Gene Name

carboxylesterase 1D

Synonyms

Ces3, TGH

MMRRC Submission

038683-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0483 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

93892700-93924432 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 93924307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 14 (C14F)

Ref Sequence

ENSEMBL: ENSMUSP00000034172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034172] [ENSMUST00000034173] [ENSMUST00000176282]

AlphaFold

Q8VCT4

Predicted Effect

probably benign
Transcript: ENSMUST00000034172
AA Change: C14F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034172
Gene: ENSMUSG00000056973
AA Change: C14F

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 benign
Transcript: ENSMUST00000034173

SMART Domains

Protein: ENSMUSP00000034173
Gene: ENSMUSG00000061959

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	546	1.7e-174	PFAM
Pfam:Abhydrolase_3	137	282	5.2e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129987

Predicted Effect

probably benign
Transcript: ENSMUST00000176282

SMART Domains

Protein: ENSMUSP00000135636
Gene: ENSMUSG00000061959

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	545	8.9e-166	PFAM
Pfam:Abhydrolase_3	136	292	2.7e-10	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

99% (89/90)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500009L16Rik	G	A	10: 83,595,502 (GRCm39)		probably benign	Het
1700048O20Rik	A	T	9: 121,769,769 (GRCm39)		noncoding transcript	Het
AA986860	A	G	1: 130,671,562 (GRCm39)	R595G	probably damaging	Het
Acrbp	C	A	6: 125,031,759 (GRCm39)	F353L	possibly damaging	Het
Adamts20	T	A	15: 94,251,452 (GRCm39)	Q445L	probably benign	Het
Adgrg5	A	G	8: 95,660,136 (GRCm39)	D26G	possibly damaging	Het
Atad2b	A	T	12: 4,995,035 (GRCm39)		probably benign	Het
Atg2a	G	T	19: 6,306,631 (GRCm39)	G1439C	probably damaging	Het
Atg2a	G	T	19: 6,306,632 (GRCm39)	G1439V	probably benign	Het
B3galt1	G	A	2: 67,948,932 (GRCm39)	V216I	probably benign	Het
Bmerb1	T	C	16: 13,913,803 (GRCm39)	*113R	probably null	Het
C2cd2	A	G	16: 97,660,788 (GRCm39)		probably benign	Het
Cacna2d1	G	A	5: 16,564,025 (GRCm39)	V884M	probably damaging	Het
Cers5	C	A	15: 99,643,795 (GRCm39)	C22F	probably damaging	Het
Cntn3	G	T	6: 102,180,927 (GRCm39)	P756Q	probably damaging	Het
Col4a1	T	C	8: 11,286,423 (GRCm39)		probably benign	Het
Col5a3	A	G	9: 20,693,777 (GRCm39)		probably null	Het
Cox5b	G	A	1: 36,731,636 (GRCm39)		probably null	Het
Cwc27	C	A	13: 104,947,724 (GRCm39)		probably null	Het
Cyp27b1	A	C	10: 126,886,026 (GRCm39)	M260L	probably benign	Het
Ddx19b	A	T	8: 111,735,310 (GRCm39)	N465K	probably benign	Het
Depdc1b	T	C	13: 108,510,382 (GRCm39)	V298A	probably benign	Het
Dnaaf1	A	G	8: 120,317,405 (GRCm39)	I311M	possibly damaging	Het
Dnah17	T	C	11: 117,937,950 (GRCm39)	N3372S	probably benign	Het
Dus4l	G	A	12: 31,691,656 (GRCm39)	T184I	possibly damaging	Het
Dzip3	T	C	16: 48,768,076 (GRCm39)	K453E	possibly damaging	Het
Fhod3	C	T	18: 24,842,673 (GRCm39)	T3M	probably damaging	Het
Galnt10	T	C	11: 57,672,048 (GRCm39)	L446P	probably damaging	Het
Gfod1	T	A	13: 43,354,012 (GRCm39)	D321V	possibly damaging	Het
Glt8d2	C	A	10: 82,497,987 (GRCm39)		probably benign	Het
Gm11115	A	G	5: 88,301,948 (GRCm39)	M4T	unknown	Het
Gm11568	G	A	11: 99,749,209 (GRCm39)	C138Y	unknown	Het
Gm57859	C	T	11: 113,580,021 (GRCm39)	T472I	possibly damaging	Het
Gm9742	A	G	13: 8,085,052 (GRCm39)		noncoding transcript	Het
Gnrhr	G	T	5: 86,345,434 (GRCm39)	T84N	probably damaging	Het
Gpr176	C	A	2: 118,110,204 (GRCm39)	G352W	probably damaging	Het
Habp2	T	C	19: 56,304,864 (GRCm39)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Inpp5j	C	G	11: 3,449,738 (GRCm39)	W681C	probably damaging	Het
Insl6	A	G	19: 29,298,968 (GRCm39)	M148T	probably benign	Het
Itgb1	T	G	8: 129,452,648 (GRCm39)	M771R	possibly damaging	Het
Kank1	G	T	19: 25,403,357 (GRCm39)		probably benign	Het
Kcnd3	T	C	3: 105,366,942 (GRCm39)	Y271H	probably damaging	Het
Kcnq4	C	A	4: 120,573,798 (GRCm39)	R221L	probably damaging	Het
Klk1b26	G	A	7: 43,665,772 (GRCm39)	V195I	probably benign	Het
Lactb	A	C	9: 66,878,145 (GRCm39)	V228G	possibly damaging	Het
Ldb3	T	C	14: 34,258,541 (GRCm39)	D649G	probably damaging	Het
Lilra6	T	A	7: 3,916,138 (GRCm39)	R240S	probably benign	Het
Lrp2	A	G	2: 69,338,145 (GRCm39)	Y1212H	probably damaging	Het
Mapk8ip1	A	T	2: 92,216,321 (GRCm39)		probably null	Het
Mctp1	C	T	13: 76,975,846 (GRCm39)	L483F	probably damaging	Het
Mmp16	T	C	4: 18,115,878 (GRCm39)		probably benign	Het
Mphosph9	A	T	5: 124,445,033 (GRCm39)	L360*	probably null	Het
Myh4	A	G	11: 67,143,123 (GRCm39)	E1017G	probably damaging	Het
Nell1	A	T	7: 49,879,928 (GRCm39)	M307L	probably benign	Het
Or10al3	C	T	17: 38,012,188 (GRCm39)	A209V	probably benign	Het
Or10d1	A	C	9: 39,484,139 (GRCm39)	C139G	probably damaging	Het
Or5m11	A	G	2: 85,781,587 (GRCm39)	Y60C	probably damaging	Het
Or8k35	A	G	2: 86,424,752 (GRCm39)	V140A	probably benign	Het
Phc2	A	G	4: 128,617,100 (GRCm39)		probably benign	Het
Pp2d1	C	A	17: 53,814,999 (GRCm39)	C575F	probably benign	Het
Ptpra	T	A	2: 130,381,605 (GRCm39)	N364K	probably damaging	Het
R3hcc1l	A	G	19: 42,550,995 (GRCm39)		probably benign	Het
Rims1	A	G	1: 22,507,263 (GRCm39)		probably benign	Het
Shank3	G	A	15: 89,427,442 (GRCm39)		probably benign	Het
Sit1	T	A	4: 43,482,991 (GRCm39)	Q86L	possibly damaging	Het
Skint4	C	A	4: 111,975,136 (GRCm39)		probably benign	Het
Skint8	G	T	4: 111,796,020 (GRCm39)		probably benign	Het
Smim13	T	C	13: 41,426,186 (GRCm39)	I74T	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Speg	A	G	1: 75,361,676 (GRCm39)	E230G	possibly damaging	Het
Spmap2l	A	G	5: 77,185,204 (GRCm39)		probably benign	Het
Srpra	A	G	9: 35,127,291 (GRCm39)	T614A	possibly damaging	Het
Synpo2	T	C	3: 122,907,981 (GRCm39)	D445G	probably damaging	Het
Tas2r102	A	T	6: 132,739,328 (GRCm39)	I79F	probably damaging	Het
Tmc4	A	G	7: 3,670,609 (GRCm39)	L494P	probably damaging	Het
Togaram1	G	T	12: 65,053,805 (GRCm39)	V1412F	probably damaging	Het
Topors	T	C	4: 40,261,952 (GRCm39)	D444G	probably damaging	Het
Trappc8	T	A	18: 20,978,658 (GRCm39)	I813F	possibly damaging	Het
Trim26	T	C	17: 37,163,598 (GRCm39)		probably benign	Het
Unc13a	T	C	8: 72,097,557 (GRCm39)	D1171G	probably damaging	Het
Usp7	A	G	16: 8,517,126 (GRCm39)	V245A	probably damaging	Het
Vmn1r38	T	A	6: 66,753,979 (GRCm39)	T46S	probably benign	Het
Vmn2r76	T	C	7: 85,874,959 (GRCm39)	T673A	probably damaging	Het
Zcchc14	T	A	8: 122,355,388 (GRCm39)		probably benign	Het
Zfp451	T	A	1: 33,809,991 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- TTTGATGCACCCCTTCAAGTGCAG -3'
(R):5'- GAAATGTGTCCGTCCTCACATCCC -3'

Sequencing Primer
(F):5'- CCCTTCAAGTGCAGAAAGC -3'
(R):5'- TAATCTGAGTACTGGGCACTGAC -3'

Posted On

2013-05-23