Mutagenetix > Incidental Mutation

Incidental Mutation 'R7853:Ces1d'

607072

Institutional Source

Beutler Lab

Gene Symbol

Ces1d

Ensembl Gene

ENSMUSG00000056973

Gene Name

carboxylesterase 1D

Synonyms

TGH, Ces3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7853 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93166068-93197838 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 93175067 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 425 (G425S)

Ref Sequence

ENSEMBL: ENSMUSP00000034172 (fasta)

Gene Model

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

AlphaFold

Q8VCT4

Predicted Effect

probably benign
Transcript: ENSMUST00000034172
AA Change: G425S

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034172
Gene: ENSMUSG00000056973
AA Change: G425S

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,473,680	I26T	probably damaging	Het
Aadacl4	G	T	4: 144,618,022	A123S	probably benign	Het
Adamts20	A	C	15: 94,345,990	C619G	probably damaging	Het
Ahcyl1	C	A	3: 107,668,288	V394L	probably benign	Het
Ankrd17	A	C	5: 90,238,966	L2378V	possibly damaging	Het
B3gnt3	T	C	8: 71,692,713	Y337C	probably damaging	Het
Bcl10	A	G	3: 145,924,511	K18R	possibly damaging	Het
Calcr	G	A	6: 3,707,499	A267V	probably benign	Het
Col1a1	G	T	11: 94,947,679	R899L	unknown	Het
Commd1	C	T	11: 22,956,532	R168H	possibly damaging	Het
Cps1	T	C	1: 67,174,481	S791P	possibly damaging	Het
Ctsj	T	A	13: 61,004,070	I58F	probably damaging	Het
Cyp2j5	T	A	4: 96,641,419	K238N	probably benign	Het
Dlgap4	A	G	2: 156,705,882	D423G	probably benign	Het
Egln1	T	C	8: 124,948,517	N180D	probably benign	Het
Ehd1	T	C	19: 6,277,195	F74S	probably damaging	Het
Ext1	G	A	15: 53,107,485	A350V	probably damaging	Het
Fam186b	T	A	15: 99,280,747	I233F	probably damaging	Het
Fam193a	T	G	5: 34,440,129	N91K	probably benign	Het
Far1	T	A	7: 113,554,148	N329K	probably damaging	Het
Fhad1	A	G	4: 141,909,823	S1111P	probably damaging	Het
Fhl2	A	G	1: 43,141,824	S69P	probably damaging	Het
Flg2	C	A	3: 93,220,747	P2322Q	unknown	Het
Flvcr1	A	G	1: 191,025,646	Y108H	probably damaging	Het
Fos	T	A	12: 85,476,018	S235T	probably benign	Het
Foxf1	T	A	8: 121,084,699	S101T	probably damaging	Het
Gfer	C	A	17: 24,694,285	D198Y	probably damaging	Het
Ggps1	T	C	13: 14,054,449	I50V	probably benign	Het
Gkn2	A	G	6: 87,378,273	T155A	probably benign	Het
Gm49333	T	A	16: 20,644,260		probably null	Het
Gna12	C	T	5: 140,760,694	C332Y	probably damaging	Het
H2-Ke6	T	G	17: 34,027,437	D117A	probably benign	Het
Hc	T	A	2: 35,010,033	Y1096F	probably damaging	Het
Hoxa3	G	A	6: 52,170,287		probably benign	Het
Ifi206	A	T	1: 173,471,534	Y835*	probably null	Het
Ighv13-2	T	G	12: 114,357,924	E65A	probably damaging	Het
Kif5a	A	T	10: 127,235,668	Y770*	probably null	Het
Lfng	A	G	5: 140,607,629	S72G	probably benign	Het
Lipo2	C	T	19: 33,759,944		probably benign	Het
Lnpep	C	T	17: 17,562,847	S564N	probably benign	Het
Mfhas1	T	A	8: 35,589,871	L500*	probably null	Het
Mllt6	G	A	11: 97,670,316	V277I	probably benign	Het
Mroh5	C	T	15: 73,791,340	D192N	probably benign	Het
Myo1f	T	A	17: 33,576,698	V106D	probably damaging	Het
Mypn	T	A	10: 63,145,873	I643F	probably benign	Het
Nup188	A	G	2: 30,323,563	N669D	possibly damaging	Het
Olfr126	C	G	17: 37,850,823	T77R	probably damaging	Het
Olfr154	T	C	2: 85,664,345	T30A	probably benign	Het
Olfr281	T	C	15: 98,456,985	V225A	probably benign	Het
Olfr458	A	T	6: 42,460,639	C127S	probably damaging	Het
Osbpl10	A	G	9: 115,207,658	T241A	probably damaging	Het
Peg3	C	T	7: 6,708,840	E1128K	possibly damaging	Het
Plch1	C	A	3: 63,773,647	M186I	probably benign	Het
Pon3	A	C	6: 5,236,911	L152R	probably damaging	Het
Prr36	G	A	8: 4,213,905	P587L	unknown	Het
Psma2	T	A	13: 14,625,247	I192N	probably damaging	Het
Rbm11	T	C	16: 75,593,035	F30L	probably damaging	Het
Rpap3	G	A	15: 97,678,418	A622V	possibly damaging	Het
Scgb2b11	T	A	7: 32,209,382	N98Y	probably damaging	Het
Siglec1	A	G	2: 131,081,292	L511P	probably damaging	Het
Sirpb1c	C	T	3: 15,832,992	V228M	probably damaging	Het
Smpd4	T	A	16: 17,642,741	Y804N	probably damaging	Het
Sult6b2	T	C	6: 142,801,798	D75G	not run	Het
Sycp3	A	C	10: 88,466,506	K119N	probably damaging	Het
Syne2	T	C	12: 76,031,504	L4703P	probably damaging	Het
Tex12	C	G	9: 50,559,223	L20F	possibly damaging	Het
Them5	T	A	3: 94,343,296	Y55*	probably null	Het
Tmem43	A	T	6: 91,481,986	D213V	probably benign	Het
Tnfrsf10b	A	C	14: 69,767,790	Q44P	unknown	Het
Trbv2	A	T	6: 41,047,902	Q84L	probably benign	Het
Trim2	C	T	3: 84,305,230		probably benign	Het
Trim36	A	G	18: 46,172,491	V475A	probably benign	Het
Ttbk1	C	A	17: 46,447,343	E788D	probably benign	Het
Ttn	T	C	2: 76,713,282	D33120G	probably damaging	Het
Ttn	T	A	2: 76,745,912	N24879I	probably damaging	Het
Ube4a	T	A	9: 44,953,010	Q76L	probably benign	Het
Vmn2r27	T	A	6: 124,192,021	I717F	probably damaging	Het
Vmn2r45	T	C	7: 8,482,988	K434E	possibly damaging	Het
Vta1	T	C	10: 14,655,717	T305A	probably damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	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
IGL02990: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
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

Predicted Primers

PCR Primer
(F):5'- ATGCATGTGGGCCTTTTCC -3'
(R):5'- TCTTAACTGGCTGCAGAAACCC -3'

Sequencing Primer
(F):5'- CTTAGATCCTTACTAGCAGAAAAGGC -3'
(R):5'- TGGCTGCAGAAACCCCATCC -3'

Posted On

2019-12-20