Mutagenetix > Incidental Mutation

Incidental Mutation 'R7410:Ces1d'

575005

Institutional Source

Beutler Lab

Gene Symbol

Ces1d

Ensembl Gene

ENSMUSG00000056973

Gene Name

carboxylesterase 1D

Synonyms

Ces3, TGH

MMRRC Submission

045491-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7410 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93892700-93924432 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93919433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 120 (N120D)

Ref Sequence

ENSEMBL: ENSMUSP00000034172 (fasta)

Gene Model

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

AlphaFold

Q8VCT4

Predicted Effect

probably damaging
Transcript: ENSMUST00000034172
AA Change: N120D

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

SMART Domains

Protein: ENSMUSP00000034172
Gene: ENSMUSG00000056973
AA Change: N120D

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	545	4.9e-169	PFAM
Pfam:Abhydrolase_3	136	256	8.1e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210017I01Rik	A	G	3: 92,512,551 (GRCm39)	S3P	unknown	Het
Adgrv1	A	T	13: 81,711,738 (GRCm39)	D1079E	probably benign	Het
Agbl5	A	T	5: 31,048,032 (GRCm39)	Y102F	possibly damaging	Het
Ankfy1	T	C	11: 72,652,330 (GRCm39)	L1094S	probably damaging	Het
Ankrd42	A	T	7: 92,259,762 (GRCm39)	V337E	possibly damaging	Het
Axl	A	G	7: 25,458,208 (GRCm39)	L849P	probably benign	Het
Bmpr2	T	C	1: 59,907,652 (GRCm39)	I915T	probably benign	Het
Cables1	T	A	18: 12,074,282 (GRCm39)	F494L	probably benign	Het
Cacna1e	A	C	1: 154,347,980 (GRCm39)	V927G	probably benign	Het
Cavin1	A	T	11: 100,849,670 (GRCm39)	V320E	probably damaging	Het
Cemip	T	G	7: 83,602,042 (GRCm39)	S916R	probably damaging	Het
Cep57	G	A	9: 13,729,980 (GRCm39)		probably benign	Het
Cfap44	A	T	16: 44,288,776 (GRCm39)	S1509C	probably damaging	Het
Chga	A	G	12: 102,528,866 (GRCm39)	D281G	probably benign	Het
Clstn2	A	G	9: 97,423,920 (GRCm39)	F282L	probably benign	Het
Cnot1	A	T	8: 96,459,787 (GRCm39)	V1855E	possibly damaging	Het
Cnr1	T	A	4: 33,944,119 (GRCm39)	V169D	probably damaging	Het
Cpd	T	A	11: 76,673,134 (GRCm39)	H1337L	probably damaging	Het
Crabp2	T	A	3: 87,859,585 (GRCm39)	D78E	probably damaging	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Cyp2ab1	G	A	16: 20,135,475 (GRCm39)	A9V	probably benign	Het
Cyp3a41b	T	C	5: 145,514,967 (GRCm39)	D86G	probably damaging	Het
Dner	T	A	1: 84,563,332 (GRCm39)	D96V	probably damaging	Het
Duox1	C	A	2: 122,176,874 (GRCm39)	T1465N	probably damaging	Het
Ehd3	T	A	17: 74,112,428 (GRCm39)	V64E	probably benign	Het
Ehmt1	A	G	2: 24,738,080 (GRCm39)	V508A	probably benign	Het
Ephb3	G	A	16: 21,040,158 (GRCm39)	V761I	possibly damaging	Het
Fam161b	T	C	12: 84,404,575 (GRCm39)	Q35R	probably benign	Het
Fam186a	T	A	15: 99,844,826 (GRCm39)	K473*	probably null	Het
Fam227b	A	T	2: 125,960,983 (GRCm39)	D215E	probably damaging	Het
Fkbp15	C	A	4: 62,258,536 (GRCm39)	D144Y	probably damaging	Het
Galt	T	C	4: 41,757,707 (GRCm39)	I259T	possibly damaging	Het
Gbp11	G	A	5: 105,491,774 (GRCm39)	P8S	probably damaging	Het
Gfap	A	T	11: 102,783,963 (GRCm39)	M339K	probably damaging	Het
Gm14443	C	T	2: 175,011,069 (GRCm39)	R459Q	possibly damaging	Het
Grip1	A	G	10: 119,855,925 (GRCm39)	N632S	probably benign	Het
H4c18	G	A	13: 22,016,211 (GRCm39)	R40W	probably damaging	Het
Hcar1	T	G	5: 124,017,161 (GRCm39)	I177L	possibly damaging	Het
Ighv1-37	A	G	12: 114,860,099 (GRCm39)	V37A	probably damaging	Het
Ilf3	T	A	9: 21,311,100 (GRCm39)	F657L	unknown	Het
Ints2	T	G	11: 86,124,052 (GRCm39)	T579P	probably benign	Het
Iqgap1	G	T	7: 80,372,778 (GRCm39)	Y1520*	probably null	Het
Kdm4a	T	C	4: 118,001,115 (GRCm39)	H884R	possibly damaging	Het
Krtap19-1	A	T	16: 88,666,132 (GRCm39)	Y52N	unknown	Het
Lama5	A	T	2: 179,844,183 (GRCm39)		probably null	Het
Lrrc72	T	C	12: 36,272,803 (GRCm39)	N89D	probably damaging	Het
Med13l	A	G	5: 118,698,897 (GRCm39)	D16G	possibly damaging	Het
Mefv	A	G	16: 3,533,545 (GRCm39)	L242P	probably damaging	Het
Mob3c	T	C	4: 115,688,784 (GRCm39)	Y106H	probably damaging	Het
Nlrp1a	A	G	11: 71,014,683 (GRCm39)	I189T	probably damaging	Het
Nudt7	T	C	8: 114,860,559 (GRCm39)		probably benign	Het
Or13p10	T	C	4: 118,523,629 (GRCm39)	L305P	probably benign	Het
Or4f7	T	A	2: 111,644,271 (GRCm39)	I267L	probably benign	Het
Pappa	A	G	4: 65,253,956 (GRCm39)	T1537A	probably damaging	Het
Pik3r4	T	A	9: 105,527,790 (GRCm39)	V381E	probably damaging	Het
Pkd1	T	A	17: 24,794,855 (GRCm39)	Y2181N	probably damaging	Het
Pmel	G	T	10: 128,552,353 (GRCm39)	V396F	probably benign	Het
Prdm9	A	G	17: 15,765,259 (GRCm39)	I507T	possibly damaging	Het
Psme4	C	T	11: 30,765,279 (GRCm39)	Q549*	probably null	Het
Ptprg	T	A	14: 11,962,657 (GRCm38)	W152R	probably damaging	Het
Ptprm	A	C	17: 67,000,561 (GRCm39)	V1141G	probably damaging	Het
Rapgef5	G	A	12: 117,685,063 (GRCm39)	V505M	probably damaging	Het
Rnf213	T	A	11: 119,325,877 (GRCm39)	M1558K		Het
Slc35a1	A	G	4: 34,675,034 (GRCm39)	V168A	probably benign	Het
Srebf1	T	C	11: 60,096,693 (GRCm39)	T347A	probably benign	Het
Stard9	T	A	2: 120,531,978 (GRCm39)	V2745D	probably benign	Het
Taar7e	A	T	10: 23,914,424 (GRCm39)	T305S	probably benign	Het
Tie1	T	C	4: 118,337,074 (GRCm39)	S551G	probably benign	Het
Tmc5	T	A	7: 118,222,820 (GRCm39)	Y173*	probably null	Het
Tns2	T	A	15: 102,018,961 (GRCm39)	V384D	probably damaging	Het
Tubgcp4	T	A	2: 121,014,890 (GRCm39)	Y267N	probably damaging	Het
Vmn1r53	A	G	6: 90,200,700 (GRCm39)	V208A	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdfy4	T	C	14: 32,696,191 (GRCm39)	D2784G		Het
Zfp712	A	C	13: 67,189,400 (GRCm39)	S376A	probably benign	Het
Znrf3	C	T	11: 5,238,955 (GRCm39)	C232Y	unknown	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
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
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'- CTGGAAGAATGAGGTCACACTG -3'
(R):5'- GTGAGGATAACTGTAGCTATGTGC -3'

Sequencing Primer
(F):5'- ACTGTTCTTAAATAAGTTCTTGCCC -3'
(R):5'- TCCAAGTACAAGGTCAGGTCCTG -3'

Posted On

2019-10-07