Mutagenetix > Incidental Mutations

Incidental Mutation 'R7137:Ces1c'

553133

Institutional Source

Beutler Lab

Gene Symbol

Ces1c

Ensembl Gene

ENSMUSG00000057400

Gene Name

carboxylesterase 1C

Synonyms

Es-4, Ces-N, Es1, Es-N, Ee-1, Es-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R7137 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93099015-93131283 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93130842 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 37 (Y37C)

Ref Sequence

ENSEMBL: ENSMUSP00000034189 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034189]

Predicted Effect

probably benign
Transcript: ENSMUST00000034189
AA Change: Y37C

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000034189
Gene: ENSMUSG00000057400
AA Change: Y37C

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	534	4e-167	PFAM
Pfam:Abhydrolase_3	136	235	6.2e-10	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit protection against nerve agents such as chlorpyrifos and chlorpyrifos oxon but increased sensitivity to soman coumarin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,677,985	S1423P	possibly damaging	Het
Acvr1c	A	G	2: 58,283,387		probably null	Het
Adgrf5	A	G	17: 43,450,897	K1161R	probably damaging	Het
Arhgap32	T	G	9: 32,151,936	D80E	probably benign	Het
Aspg	T	C	12: 112,112,198	V30A	possibly damaging	Het
Bcl2a1d	T	C	9: 88,731,478	D81G	probably damaging	Het
Cep170b	T	C	12: 112,735,167	V160A	probably benign	Het
Cntnap5a	T	C	1: 116,089,376	L233P	probably damaging	Het
Crem	C	A	18: 3,273,459	A245S	possibly damaging	Het
Cyp2d12	C	T	15: 82,557,821	A280V	probably benign	Het
Dnah2	C	T	11: 69,491,555	G1243D	probably damaging	Het
Emcn	T	G	3: 137,403,991	N131K	probably damaging	Het
Fat3	A	T	9: 15,997,148	D2519E	probably damaging	Het
Fibin	T	A	2: 110,362,656	D47V	probably damaging	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
Gimap8	C	A	6: 48,650,253	L54I	probably damaging	Het
Gm20481	A	G	17: 34,970,095	Y27C	unknown	Het
Gm21319	A	T	12: 87,773,546	L81Q	possibly damaging	Het
Grin1	T	G	2: 25,313,538	M154L	probably benign	Het
Ighv8-13	A	G	12: 115,765,577	L20P	probably damaging	Het
Insc	G	A	7: 114,811,615	V236I	probably benign	Het
Lrrk1	A	G	7: 66,285,279	F1031L	probably benign	Het
Man2a2	C	A	7: 80,359,751	R785L	probably benign	Het
Mcur1	C	A	13: 43,544,455		probably null	Het
Med12l	A	C	3: 59,258,254	R1464S	probably damaging	Het
Mycbp2	A	T	14: 103,282,679	M767K	possibly damaging	Het
Naalad2	T	C	9: 18,323,487	I762V	probably benign	Het
Nfkbid	A	G	7: 30,426,256	T357A	possibly damaging	Het
Pcdh17	A	G	14: 84,533,549	R1156G	possibly damaging	Het
Pcdhb1	T	C	18: 37,267,392	S799P	possibly damaging	Het
Pde3a	A	T	6: 141,498,746	E1093D	probably benign	Het
Plcg1	T	C	2: 160,753,926	Y572H	possibly damaging	Het
Plxna4	A	G	6: 32,517,264	L139P	probably damaging	Het
Psma1	A	G	7: 114,274,448	Y6H	probably damaging	Het
Psmd2	A	G	16: 20,652,627	E76G	probably benign	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Pyy	T	G	11: 102,107,273	D27A	possibly damaging	Het
Slc22a2	A	G	17: 12,584,341	T21A	probably benign	Het
Slc25a2	T	C	18: 37,638,147	I110V	probably benign	Het
Sult1c2	A	C	17: 53,838,394	W85G	probably damaging	Het
Svs1	A	G	6: 48,990,149	Y677C	probably damaging	Het
Syt12	C	T	19: 4,453,950	D218N	probably damaging	Het
Tln1	C	T	4: 43,540,616	V1462M	probably damaging	Het
Tor1aip2	T	A	1: 156,051,976	N33K	possibly damaging	Het
Usp17lb	C	A	7: 104,841,591	W43L	probably benign	Het
Vmn1r76	A	G	7: 11,930,685	Y201H	possibly damaging	Het
Wnk1	C	A	6: 120,038,212		probably benign	Het
Wrnip1	A	G	13: 32,802,749	D171G	probably benign	Het
Zar1	T	A	5: 72,580,816	N81I	probably damaging	Het
Zbtb45	T	C	7: 13,007,156	T392A	probably benign	Het
Zfp445	T	C	9: 122,854,778	E272G	probably damaging	Het

Other mutations in Ces1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Ces1c	APN	8	93106673	missense	probably benign	0.02
IGL00558:Ces1c	APN	8	93099271	missense	probably benign	0.03
IGL00787:Ces1c	APN	8	93120366	missense	possibly damaging	0.90
IGL00851:Ces1c	APN	8	93123117	missense	probably benign	0.00
IGL01598:Ces1c	APN	8	93118413	missense	probably benign
IGL02616:Ces1c	APN	8	93106615	missense	probably benign	0.01
IGL03087:Ces1c	APN	8	93118414	missense	probably benign
IGL03203:Ces1c	APN	8	93124588	missense	probably damaging	1.00
R0119:Ces1c	UTSW	8	93106717	unclassified	probably benign
R0119:Ces1c	UTSW	8	93107610	missense	probably benign	0.00
R0255:Ces1c	UTSW	8	93127524	missense	probably benign
R0759:Ces1c	UTSW	8	93130864	nonsense	probably null
R1499:Ces1c	UTSW	8	93127605	missense	probably benign	0.01
R1926:Ces1c	UTSW	8	93127604	missense	possibly damaging	0.69
R2087:Ces1c	UTSW	8	93107602	missense	probably benign	0.00
R2142:Ces1c	UTSW	8	93130840	missense	probably benign
R2442:Ces1c	UTSW	8	93123212	missense	probably damaging	1.00
R2971:Ces1c	UTSW	8	93104193	missense	probably benign	0.01
R3079:Ces1c	UTSW	8	93120347	missense	probably damaging	1.00
R3080:Ces1c	UTSW	8	93120347	missense	probably damaging	1.00
R3609:Ces1c	UTSW	8	93120332	missense	probably damaging	1.00
R4131:Ces1c	UTSW	8	93100684	missense	probably damaging	1.00
R4633:Ces1c	UTSW	8	93118386	missense	probably benign	0.00
R4988:Ces1c	UTSW	8	93100708	missense	probably damaging	1.00
R5081:Ces1c	UTSW	8	93127569	missense	probably damaging	1.00
R5497:Ces1c	UTSW	8	93130715	missense	possibly damaging	0.91
R5586:Ces1c	UTSW	8	93127599	missense	probably benign	0.00
R7013:Ces1c	UTSW	8	93130764	missense	probably damaging	1.00
R7611:Ces1c	UTSW	8	93124511	missense	probably benign	0.00
R7882:Ces1c	UTSW	8	93106603	missense	probably benign
R8280:Ces1c	UTSW	8	93099181	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- AAATAGTCCCCATCCCAGTGG -3'
(R):5'- GCGACTTTTATACCTCCAAACAG -3'

Sequencing Primer
(F):5'- CATCCCAGTGGCTTACATAGGAG -3'
(R):5'- GACCCTGTATTTAATGTTGGAAGG -3'

Posted On

2019-05-15