Mutagenetix > Incidental Mutation

Incidental Mutation 'R6257:Ces1d'

506400

Institutional Source

Beutler Lab

Gene Symbol

Ces1d

Ensembl Gene

ENSMUSG00000056973

Gene Name

carboxylesterase 1D

Synonyms

Ces3, TGH

MMRRC Submission

044374-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93892700-93924432 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93893025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 519 (D519G)

Ref Sequence

ENSEMBL: ENSMUSP00000034172 (fasta)

Gene Model

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

AlphaFold

Q8VCT4

Predicted Effect

probably benign
Transcript: ENSMUST00000034172
AA Change: D519G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000034172
Gene: ENSMUSG00000056973
AA Change: D519G

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

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

97% (74/76)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	T	17: 36,272,074 (GRCm39)	N313K	probably benign	Het
Adamts2	T	C	11: 50,666,153 (GRCm39)	V383A	probably damaging	Het
Adamts6	A	T	13: 104,598,790 (GRCm39)	Q877L	probably benign	Het
Adgre4	C	T	17: 56,109,133 (GRCm39)	T380I	possibly damaging	Het
Aspm	A	G	1: 139,409,791 (GRCm39)		probably null	Het
Atg16l2	A	G	7: 100,951,102 (GRCm39)		probably null	Het
Bcl6b	C	T	11: 70,116,878 (GRCm39)	R467H	probably benign	Het
Cacna2d4	G	A	6: 119,258,580 (GRCm39)		probably null	Het
Casp8ap2	A	G	4: 32,641,364 (GRCm39)	D806G	possibly damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Ccser1	A	G	6: 61,350,946 (GRCm39)	D501G	probably damaging	Het
Ccser1	A	G	6: 62,356,769 (GRCm39)	T736A	probably benign	Het
Cd164l2	T	A	4: 132,948,345 (GRCm39)	C19S	unknown	Het
Cdk15	G	A	1: 59,296,264 (GRCm39)		probably null	Het
Cebpz	T	C	17: 79,243,261 (GRCm39)	E131G	probably benign	Het
Cftr	A	C	6: 18,282,500 (GRCm39)	T1067P	probably benign	Het
Chd1	T	G	17: 15,950,465 (GRCm39)		probably null	Het
Chil4	T	A	3: 106,111,412 (GRCm39)	D234V	possibly damaging	Het
Cldn16	T	A	16: 26,300,080 (GRCm39)	S173T	probably damaging	Het
Cpd	A	T	11: 76,703,496 (GRCm39)	F456I	probably benign	Het
Cst8	C	A	2: 148,647,365 (GRCm39)	A125E	probably damaging	Het
Dars2	G	T	1: 160,869,398 (GRCm39)	P617Q	probably damaging	Het
Defb26	A	G	2: 152,349,860 (GRCm39)	V140A	unknown	Het
Dntt	T	G	19: 41,041,501 (GRCm39)	V395G	probably damaging	Het
Dock10	G	A	1: 80,481,413 (GRCm39)		probably benign	Het
Dscam	T	C	16: 96,474,914 (GRCm39)	N1216S	possibly damaging	Het
En1	A	T	1: 120,531,636 (GRCm39)	D292V	unknown	Het
Erbb4	A	T	1: 68,435,432 (GRCm39)	L155Q	probably damaging	Het
Erbin	T	C	13: 103,998,796 (GRCm39)	T197A	probably benign	Het
Fat2	A	G	11: 55,153,407 (GRCm39)	F3602L	probably benign	Het
Fcsk	A	T	8: 111,617,177 (GRCm39)	C365S	probably benign	Het
Gm3443	A	T	19: 21,533,075 (GRCm39)	D13V	unknown	Het
Gm6401	T	C	14: 41,789,828 (GRCm39)	Q10R	probably benign	Het
Gmcl1	G	A	6: 86,677,623 (GRCm39)	T410I	possibly damaging	Het
Grid2ip	G	A	5: 143,366,184 (GRCm39)	S379N	probably damaging	Het
H2-T24	T	A	17: 36,325,574 (GRCm39)	T305S	probably benign	Het
Ksr2	A	T	5: 117,552,909 (GRCm39)	M6L	probably benign	Het
Lama2	A	G	10: 26,862,895 (GRCm39)	L2956S	possibly damaging	Het
Lhfpl3	A	G	5: 22,951,557 (GRCm39)	T123A	probably benign	Het
Lrp1b	T	A	2: 40,486,981 (GRCm39)		probably null	Het
Ltn1	G	A	16: 87,208,662 (GRCm39)	A812V	possibly damaging	Het
Maml2	C	T	9: 13,531,722 (GRCm39)	S312L	probably damaging	Het
Myo7b	T	A	18: 32,146,468 (GRCm39)	N106Y	probably damaging	Het
Nacc2	A	T	2: 25,950,420 (GRCm39)	C439S	probably damaging	Het
Ncoa7	A	G	10: 30,570,173 (GRCm39)	I224T	probably damaging	Het
Nf1	A	T	11: 79,440,317 (GRCm39)	L2303F	probably damaging	Het
Noc3l	A	T	19: 38,784,349 (GRCm39)		probably null	Het
Nup155	C	T	15: 8,180,282 (GRCm39)	R1120*	probably null	Het
Oas3	C	A	5: 120,899,200 (GRCm39)		probably benign	Het
Ocln	T	C	13: 100,676,017 (GRCm39)	I159V	probably benign	Het
Or1p1c	T	C	11: 74,160,833 (GRCm39)	V206A	probably damaging	Het
Or2t45	T	A	11: 58,669,829 (GRCm39)	V292E	probably damaging	Het
Os9	A	C	10: 126,955,006 (GRCm39)	C181G	probably damaging	Het
Phldb1	C	T	9: 44,607,437 (GRCm39)	R1256Q	probably damaging	Het
Pkd1l1	G	A	11: 8,892,195 (GRCm39)	T208I	probably benign	Het
Plppr4	T	C	3: 117,116,228 (GRCm39)	Q485R	possibly damaging	Het
Prkcb	T	A	7: 122,167,386 (GRCm39)	D365E	probably benign	Het
Ptprz1	T	A	6: 22,959,639 (GRCm39)	N45K	probably damaging	Het
Rbl2	T	C	8: 91,842,306 (GRCm39)	L987P	probably damaging	Het
Runx1	T	A	16: 92,492,799 (GRCm39)		probably benign	Het
Septin4	C	A	11: 87,481,175 (GRCm39)	Q372K	probably benign	Het
Slc24a4	A	G	12: 102,220,769 (GRCm39)	E400G	probably benign	Het
Smtnl2	G	A	11: 72,292,225 (GRCm39)	A274V	probably damaging	Het
Sri	T	A	5: 8,109,596 (GRCm39)		probably null	Het
St3gal3	C	T	4: 117,964,875 (GRCm39)		probably benign	Het
Tfpt	A	T	7: 3,632,566 (GRCm39)	L3*	probably null	Het
Tgfb3	T	C	12: 86,124,615 (GRCm39)	D31G	possibly damaging	Het
Thsd7a	G	T	6: 12,408,987 (GRCm39)	C678*	probably null	Het
Tmbim1	A	G	1: 74,332,225 (GRCm39)	Y101H	probably damaging	Het
Tmem17	A	G	11: 22,462,297 (GRCm39)		probably benign	Het
Tmprss15	A	T	16: 78,769,113 (GRCm39)	V769E	probably damaging	Het
Trak1	C	T	9: 121,275,821 (GRCm39)	R175C	probably damaging	Het
Trak1	G	T	9: 121,196,290 (GRCm39)	V41F	possibly damaging	Het
Trim30c	T	C	7: 104,039,375 (GRCm39)	Y140C	probably damaging	Het
Tubgcp3	A	T	8: 12,699,835 (GRCm39)		probably null	Het
Ubr7	T	A	12: 102,732,099 (GRCm39)	C158*	probably null	Het
Vmn2r79	A	T	7: 86,651,778 (GRCm39)	L392F	probably benign	Het
Zfp536	T	A	7: 37,179,830 (GRCm39)	D925V	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
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
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
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'- TGGAATAATACTCCTTTGACTCCAGG -3'
(R):5'- CTAAACATGAGCAGGCTGCC -3'

Sequencing Primer
(F):5'- TGACTCCAGGTTCTTAAGCACAG -3'
(R):5'- CTGCCCTAGGAGTTAAGGAACTG -3'

Posted On

2018-03-15