Mutagenetix > Incidental Mutation

Incidental Mutation 'R9758:Ces4a'

732857

Institutional Source

Beutler Lab

Gene Symbol

Ces4a

Ensembl Gene

ENSMUSG00000060560

Gene Name

carboxylesterase 4A

Synonyms

Ces8

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9758 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105858432-105876741 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105869054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 163 (E163G)

Ref Sequence

ENSEMBL: ENSMUSP00000125062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161289]

AlphaFold

Q8R0W5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161289
AA Change: E163G

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125062
Gene: ENSMUSG00000060560
AA Change: E163G

Domain	Start	End	E-Value	Type
Pfam:COesterase	8	554	4.9e-163	PFAM
Pfam:Abhydrolase_3	143	319	2e-9	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.5%

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 also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES6, encodes a secreted enzyme, and may play a role in the detoxification of drugs and xenobiotics in neural and other tissues of the body and in the cerebrospinal fluid. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature and/or biological validity of some variants have not been determined. [provided by RefSeq, Jun 2010]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actc1	T	C	2: 113,879,799 (GRCm39)	Y220C	probably damaging	Het
Actmap	T	C	7: 26,896,655 (GRCm39)	S73P	possibly damaging	Het
Bmper	G	A	9: 23,286,902 (GRCm39)	G276D	possibly damaging	Het
C2cd5	A	T	6: 142,984,613 (GRCm39)	M549K	probably benign	Het
Caprin1	A	G	2: 103,606,283 (GRCm39)	V319A	possibly damaging	Het
Cchcr1	G	A	17: 35,839,285 (GRCm39)		probably null	Het
Cdc42bpb	A	T	12: 111,265,783 (GRCm39)	V1383E	possibly damaging	Het
Cep350	T	C	1: 155,770,433 (GRCm39)	E1819G	probably damaging	Het
Chrnd	C	T	1: 87,118,792 (GRCm39)	R50*	probably null	Het
Cntn3	A	G	6: 102,183,511 (GRCm39)	S715P	probably damaging	Het
Creb1	A	T	1: 64,598,909 (GRCm39)	R95S	probably benign	Het
Ctdp1	T	C	18: 80,492,710 (GRCm39)	Y595C	probably damaging	Het
Cts7	C	T	13: 61,504,223 (GRCm39)	E86K	probably damaging	Het
Dazap1	A	G	10: 80,113,440 (GRCm39)	N113S	unknown	Het
Dhdds	T	C	4: 133,727,706 (GRCm39)		probably null	Het
Dnaaf9	A	G	2: 130,554,938 (GRCm39)	S998P	probably damaging	Het
Dnah1	T	C	14: 30,985,395 (GRCm39)	D3832G	probably damaging	Het
Drd1	A	G	13: 54,207,182 (GRCm39)	L344P	probably damaging	Het
Fam135b	G	A	15: 71,324,199 (GRCm39)	T1256I	probably benign	Het
Fam234a	A	T	17: 26,432,627 (GRCm39)	D507E	probably benign	Het
Fbxw16	A	T	9: 109,278,169 (GRCm39)	I3N	probably benign	Het
Foxd4	A	T	19: 24,877,670 (GRCm39)	W177R	probably damaging	Het
Fyb2	A	G	4: 104,802,961 (GRCm39)	S288G	probably benign	Het
Gadl1	A	G	9: 115,789,519 (GRCm39)	H275R	probably benign	Het
Gbp5	A	G	3: 142,206,366 (GRCm39)	T17A	probably benign	Het
Gm1110	A	T	9: 26,800,894 (GRCm39)	Y433*	probably null	Het
Gm6408	C	A	5: 146,420,628 (GRCm39)	D169E	probably benign	Het
Gramd2b	T	A	18: 56,611,972 (GRCm39)	V145E	probably damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hcn1	GCA	GCAACA	13: 118,112,305 (GRCm39)		probably benign	Het
Hif1an	G	A	19: 44,558,378 (GRCm39)	V293M	probably damaging	Het
Hyal3	A	G	9: 107,462,347 (GRCm39)	D127G	probably damaging	Het
Ighg1	T	A	12: 113,293,252 (GRCm39)	D146V	possibly damaging	Het
Iws1	T	A	18: 32,216,347 (GRCm39)	D362E	probably damaging	Het
Kif21b	G	A	1: 136,080,961 (GRCm39)	E601K	probably damaging	Het
Kndc1	C	A	7: 139,500,620 (GRCm39)	P662T	possibly damaging	Het
Krtap13-1	C	T	16: 88,526,229 (GRCm39)	T151I	probably benign	Het
Ndufa10	A	T	1: 92,379,752 (GRCm39)	I327N	probably benign	Het
Or10ag53	A	G	2: 87,082,439 (GRCm39)	I53V	possibly damaging	Het
Or10z1	A	G	1: 174,077,902 (GRCm39)	L197P	probably damaging	Het
Pcdhb14	T	C	18: 37,582,040 (GRCm39)	V382A	probably benign	Het
Pex1	A	T	5: 3,685,876 (GRCm39)	I1206F	probably damaging	Het
Pi4k2b	T	A	5: 52,918,331 (GRCm39)	D386E	probably benign	Het
Pik3c2a	A	G	7: 115,945,427 (GRCm39)	F1460L	probably damaging	Het
Plcb2	A	C	2: 118,545,921 (GRCm39)	M588R	probably damaging	Het
Prl7d1	C	A	13: 27,893,260 (GRCm39)	R216L	possibly damaging	Het
Psg28	G	T	7: 18,156,887 (GRCm39)	Y449*	probably null	Het
Psg28	T	A	7: 18,164,602 (GRCm39)	T37S	probably benign	Het
Psmd9	G	T	5: 123,372,745 (GRCm39)	R76M	probably damaging	Het
Rfc1	T	C	5: 65,459,391 (GRCm39)	D189G	probably benign	Het
Rnf207	A	G	4: 152,397,666 (GRCm39)	S363P	probably benign	Het
Sco1	T	A	11: 66,949,250 (GRCm39)	D239E	probably damaging	Het
Sec24d	C	T	3: 123,136,803 (GRCm39)	T512M	probably damaging	Het
Shkbp1	T	C	7: 27,046,442 (GRCm39)	K441E	probably benign	Het
Slc44a5	A	T	3: 153,959,322 (GRCm39)	I338F	probably damaging	Het
Slc4a3	A	T	1: 75,534,319 (GRCm39)	I1161F	probably damaging	Het
Spmip11	T	A	15: 98,483,264 (GRCm39)	L65I	probably damaging	Het
Tnfsf9	T	A	17: 57,414,355 (GRCm39)	L261M	probably damaging	Het
Trim55	C	T	3: 19,699,498 (GRCm39)	R77C	probably damaging	Het
Vmn2r27	A	G	6: 124,168,637 (GRCm39)	I831T	possibly damaging	Het
Vwa3b	A	G	1: 37,081,438 (GRCm39)	I60V	probably benign	Het
Vwf	A	G	6: 125,603,230 (GRCm39)	N860S		Het
Zfp54	T	A	17: 21,654,149 (GRCm39)	N214K	probably benign	Het
Zfp707	T	C	15: 75,845,418 (GRCm39)	I94T		Het

Other mutations in Ces4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00584:Ces4a	APN	8	105,871,795 (GRCm39)	missense	probably benign	0.00
IGL01574:Ces4a	APN	8	105,871,859 (GRCm39)	splice site	probably benign
IGL01655:Ces4a	APN	8	105,873,806 (GRCm39)	missense	probably damaging	0.99
IGL03092:Ces4a	APN	8	105,874,836 (GRCm39)	splice site	probably benign
IGL03151:Ces4a	APN	8	105,874,829 (GRCm39)	critical splice donor site	probably null
F6893:Ces4a	UTSW	8	105,873,859 (GRCm39)	missense	possibly damaging	0.74
R0266:Ces4a	UTSW	8	105,868,598 (GRCm39)	missense	probably benign
R0659:Ces4a	UTSW	8	105,871,554 (GRCm39)	splice site	probably benign
R1239:Ces4a	UTSW	8	105,876,130 (GRCm39)	missense	probably damaging	1.00
R1467:Ces4a	UTSW	8	105,864,667 (GRCm39)	missense	possibly damaging	0.56
R1467:Ces4a	UTSW	8	105,864,667 (GRCm39)	missense	possibly damaging	0.56
R1505:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R1509:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R1598:Ces4a	UTSW	8	105,869,453 (GRCm39)	missense	probably damaging	1.00
R1734:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R1736:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R1737:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R1738:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R1744:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R1789:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R1951:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R1953:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R2126:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R2129:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R2202:Ces4a	UTSW	8	105,872,746 (GRCm39)	missense	probably damaging	1.00
R4512:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R4865:Ces4a	UTSW	8	105,873,790 (GRCm39)	missense	probably benign	0.05
R4934:Ces4a	UTSW	8	105,864,613 (GRCm39)	missense	probably benign	0.30
R4936:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R5255:Ces4a	UTSW	8	105,869,121 (GRCm39)	missense	probably benign	0.00
R5342:Ces4a	UTSW	8	105,872,775 (GRCm39)	missense	probably benign	0.07
R5647:Ces4a	UTSW	8	105,872,712 (GRCm39)	missense	probably benign	0.10
R6062:Ces4a	UTSW	8	105,864,806 (GRCm39)	critical splice donor site	probably null
R6490:Ces4a	UTSW	8	105,876,090 (GRCm39)	missense	probably benign	0.09
R6606:Ces4a	UTSW	8	105,876,010 (GRCm39)	missense	possibly damaging	0.95
R6876:Ces4a	UTSW	8	105,871,624 (GRCm39)	missense	possibly damaging	0.56
R6901:Ces4a	UTSW	8	105,873,330 (GRCm39)	missense	probably benign
R7519:Ces4a	UTSW	8	105,871,851 (GRCm39)	missense	probably damaging	1.00
R7682:Ces4a	UTSW	8	105,873,297 (GRCm39)	missense	probably benign	0.00
R8171:Ces4a	UTSW	8	105,873,839 (GRCm39)	missense	probably damaging	1.00
R8329:Ces4a	UTSW	8	105,874,714 (GRCm39)	missense	probably damaging	1.00
R8833:Ces4a	UTSW	8	105,858,614 (GRCm39)	missense	probably benign	0.00
R9168:Ces4a	UTSW	8	105,876,050 (GRCm39)	missense	probably benign	0.00
R9557:Ces4a	UTSW	8	105,869,527 (GRCm39)	missense	possibly damaging	0.92
Z1176:Ces4a	UTSW	8	105,858,609 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGAATGTGTATGCCCCAGTACTC -3'
(R):5'- GCATATGCCAGCCTCTTCAC -3'

Sequencing Primer
(F):5'- GAGTACACTGTAGCTGTCTTCAGAC -3'
(R):5'- GCCAGCCTCTTCACTCGGTC -3'

Posted On

2022-11-14