Mutagenetix > Incidental Mutation

Incidental Mutation 'R0686:Ces1a'

61172

Institutional Source

Beutler Lab

Gene Symbol

Ces1a

Ensembl Gene

ENSMUSG00000071047

Gene Name

carboxylesterase 1A

Synonyms

Gm4976

MMRRC Submission

038871-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0686 (G1)

Quality Score

161

Status

Not validated

Chromosome

Chromosomal Location

93020214-93048192 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93022449 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 445 (Y445H)

Ref Sequence

ENSEMBL: ENSMUSP00000092836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095211]

AlphaFold

E9PYP1

Predicted Effect

probably damaging
Transcript: ENSMUST00000095211
AA Change: Y445H

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

SMART Domains

Protein: ENSMUSP00000092836
Gene: ENSMUSG00000071047
AA Change: Y445H

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	545	5.7e-169	PFAM
Pfam:Abhydrolase_3	136	286	8.4e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210764

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	G	A	6: 40,928,518	S68F	probably damaging	Het
1700123K08Rik	C	T	5: 138,564,537	E42K	possibly damaging	Het
Arhgef12	A	C	9: 42,993,028	L718R	probably benign	Het
Bsx	T	G	9: 40,876,437	S136A	probably damaging	Het
Ccne2	T	A	4: 11,197,220	M174K	possibly damaging	Het
Ckb	A	G	12: 111,670,193	V249A	probably benign	Het
Crybg2	TGGAGGAGGAGGAGGAGGAG	TGGAGGAGGAGGAGGAG	4: 134,074,526		probably benign	Het
Cyp2r1	T	G	7: 114,552,011	M358L	possibly damaging	Het
Dnah10	T	C	5: 124,747,718	I646T	possibly damaging	Het
Eps8l1	T	A	7: 4,477,450	D563E	probably benign	Het
Fam102b	G	A	3: 108,992,685	R116C	probably damaging	Het
Fam160a2	G	T	7: 105,388,309	L356I	probably damaging	Het
Fpr-rs4	A	C	17: 18,022,351	I207L	probably benign	Het
Fus	G	A	7: 127,972,763		probably benign	Het
Gm340	T	A	19: 41,582,372	S1R	possibly damaging	Het
Ireb2	A	T	9: 54,904,176	I755L	probably benign	Het
Kctd9	A	G	14: 67,728,736	T101A	probably damaging	Het
Ltbr	T	C	6: 125,308,061	D292G	possibly damaging	Het
Med1	G	A	11: 98,158,404	T507I	probably damaging	Het
Msh3	G	A	13: 92,351,431	P93S	possibly damaging	Het
Olfr705	A	T	7: 106,714,378	M101K	probably damaging	Het
Olfr970	A	C	9: 39,819,668	T10P	probably damaging	Het
Paqr5	T	G	9: 61,972,794	T59P	probably benign	Het
Pih1d1	T	A	7: 45,156,329	L74*	probably null	Het
Prim2	T	C	1: 33,514,189	T264A	probably benign	Het
Rasef	A	G	4: 73,734,534	S577P	probably damaging	Het
Simc1	T	A	13: 54,525,190	S450R	probably benign	Het
Tdrd1	A	T	19: 56,856,051	N796I	probably damaging	Het
Vmn1r214	T	A	13: 23,034,792	I152N	probably damaging	Het

Other mutations in Ces1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Ces1a	APN	8	93020467	missense	probably damaging	1.00
IGL00556:Ces1a	APN	8	93045059	missense	probably benign	0.03
IGL00841:Ces1a	APN	8	93039536	nonsense	probably null
IGL01510:Ces1a	APN	8	93045098	missense	probably damaging	1.00
IGL01511:Ces1a	APN	8	93045098	missense	probably damaging	1.00
IGL01518:Ces1a	APN	8	93045098	missense	probably damaging	1.00
IGL01519:Ces1a	APN	8	93045098	missense	probably damaging	1.00
IGL01520:Ces1a	APN	8	93045098	missense	probably damaging	1.00
IGL01526:Ces1a	APN	8	93045098	missense	probably damaging	1.00
IGL01527:Ces1a	APN	8	93045098	missense	probably damaging	1.00
IGL01828:Ces1a	APN	8	93025201	missense	probably damaging	0.96
IGL01934:Ces1a	APN	8	93032650	missense	probably damaging	0.99
IGL02456:Ces1a	APN	8	93039498	missense	possibly damaging	0.56
IGL02712:Ces1a	APN	8	93036040	missense	probably damaging	1.00
IGL02982:Ces1a	APN	8	93044975	missense	probably damaging	1.00
IGL03178:Ces1a	APN	8	93020889	missense	probably damaging	1.00
IGL03377:Ces1a	APN	8	93039488	missense	probably damaging	1.00
R0556:Ces1a	UTSW	8	93045112	missense	probably benign	0.01
R0613:Ces1a	UTSW	8	93025581	missense	probably benign	0.11
R0627:Ces1a	UTSW	8	93042043	missense	probably benign	0.03
R0724:Ces1a	UTSW	8	93039513	missense	probably damaging	0.98
R0930:Ces1a	UTSW	8	93022416	missense	probably benign	0.00
R1063:Ces1a	UTSW	8	93022416	missense	probably benign	0.00
R1215:Ces1a	UTSW	8	93032690	missense	probably damaging	1.00
R1381:Ces1a	UTSW	8	93034031	missense	probably damaging	0.98
R1417:Ces1a	UTSW	8	93022416	missense	probably benign	0.00
R1850:Ces1a	UTSW	8	93027326	missense	probably damaging	1.00
R2072:Ces1a	UTSW	8	93048075	missense	probably benign	0.29
R2074:Ces1a	UTSW	8	93048075	missense	probably benign	0.29
R2075:Ces1a	UTSW	8	93048075	missense	probably benign	0.29
R2114:Ces1a	UTSW	8	93039551	missense	possibly damaging	0.93
R2213:Ces1a	UTSW	8	93025225	missense	probably damaging	1.00
R2346:Ces1a	UTSW	8	93025319	missense	probably benign	0.07
R2347:Ces1a	UTSW	8	93025319	missense	probably benign	0.07
R2483:Ces1a	UTSW	8	93027341	missense	probably damaging	1.00
R4515:Ces1a	UTSW	8	93020904	missense	probably damaging	1.00
R4587:Ces1a	UTSW	8	93025304	missense	probably damaging	1.00
R4691:Ces1a	UTSW	8	93032659	missense	probably benign	0.00
R4992:Ces1a	UTSW	8	93045022	missense	probably benign	0.08
R5074:Ces1a	UTSW	8	93032675	missense	possibly damaging	0.77
R6086:Ces1a	UTSW	8	93027353	missense	probably benign	0.03
R7390:Ces1a	UTSW	8	93044841	splice site	probably null
R8926:Ces1a	UTSW	8	93025213	missense	probably benign	0.05
R9365:Ces1a	UTSW	8	93048099	missense	probably benign	0.00
R9582:Ces1a	UTSW	8	93039528	missense	probably benign	0.33
R9636:Ces1a	UTSW	8	93032635	missense	probably benign	0.17
Z1088:Ces1a	UTSW	8	93025607	missense	probably benign	0.02
Z1176:Ces1a	UTSW	8	93036085	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- GGGTACAGCTTCCTTTATGCCTGTT -3'
(R):5'- CCTGAGCACCAAGCAAGTTCCT -3'

Sequencing Primer
(F):5'- cagtgtgaccagccaacc -3'
(R):5'- TCCCCTAAAGCTGTGTTTCC -3'

Posted On

2013-07-30