Mutagenetix > Incidental Mutation

Incidental Mutation 'R4515:Ces1a'

332857

Institutional Source

Beutler Lab

Gene Symbol

Ces1a

Ensembl Gene

ENSMUSG00000071047

Gene Name

carboxylesterase 1A

Synonyms

Gm4976

MMRRC Submission

041589-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4515 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93020214-93048192 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93020904 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 500 (N500Y)

Ref Sequence

ENSEMBL: ENSMUSP00000092836 (fasta)

Gene Model

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

AlphaFold

E9PYP1

Predicted Effect

probably damaging
Transcript: ENSMUST00000095211
AA Change: N500Y

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

SMART Domains

Protein: ENSMUSP00000092836
Gene: ENSMUSG00000071047
AA Change: N500Y

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: ENSMUST00000210764

Meta Mutation Damage Score

0.8292

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (65/68)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	T	5: 138,647,744	K630N	probably damaging	Het
Acss2	C	A	2: 155,556,363	L335I	probably benign	Het
Alg6	A	T	4: 99,752,786		probably benign	Het
Atp8b3	C	T	10: 80,523,847	M984I	probably benign	Het
Bsn	G	T	9: 108,104,078		probably null	Het
Ccdc88a	T	C	11: 29,482,651	I1219T	probably benign	Het
Cdhr4	G	A	9: 107,992,951	E52K	probably benign	Het
Chd3	G	T	11: 69,349,877	R1579S	probably benign	Het
Chrnb3	T	C	8: 27,385,090	L39P	probably damaging	Het
Ckm	A	G	7: 19,420,284	K319E	probably damaging	Het
Cnot6	C	T	11: 49,702,536		probably null	Het
Copg1	A	G	6: 87,907,546		probably benign	Het
Dbn1	A	T	13: 55,476,229	I350N	possibly damaging	Het
Dnah2	A	G	11: 69,465,631	S2135P	possibly damaging	Het
Dsg2	C	A	18: 20,601,387	D807E	probably benign	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Foxi1	A	G	11: 34,207,972	F18L	probably damaging	Het
Galnt3	C	A	2: 66,093,610	R438L	probably damaging	Het
Glod4	T	A	11: 76,243,571	D25V	probably damaging	Het
Gm11492	A	G	11: 87,568,057	H419R	probably benign	Het
Gm9008	C	T	6: 76,496,809	V275I	probably benign	Het
Golga4	T	A	9: 118,559,008	S1733T	probably benign	Het
H2-M10.3	C	T	17: 36,367,830		probably null	Het
Hemgn	T	C	4: 46,396,477	E253G	probably damaging	Het
Itsn1	G	A	16: 91,899,649	V47M	probably damaging	Het
Kif5b	A	G	18: 6,208,257	V947A	probably benign	Het
Kif9	A	G	9: 110,489,867	H133R	probably benign	Het
Lce1l	T	C	3: 92,850,474	T26A	unknown	Het
Macf1	T	C	4: 123,493,988	E1172G	probably damaging	Het
Nkx3-2	C	T	5: 41,763,938	V3M	probably damaging	Het
Nr2e1	G	A	10: 42,578,191	T49I	probably benign	Het
Oc90	A	G	15: 65,892,393	L138P	probably damaging	Het
Olfr834	T	G	9: 18,987,982		probably null	Het
Olfr954	C	T	9: 39,462,231	R264*	probably null	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Paqr3	T	A	5: 97,103,361	N168I	possibly damaging	Het
Pcdhac1	T	A	18: 37,091,379	I415N	probably damaging	Het
Pdik1l	T	C	4: 134,278,896	N75S	probably damaging	Het
Pik3r4	A	G	9: 105,672,725	H1005R	probably damaging	Het
Plekhn1	T	C	4: 156,225,531	S109G	probably damaging	Het
Prkch	A	G	12: 73,702,838	T402A	possibly damaging	Het
Ptger4	C	A	15: 5,242,379	R253L	probably damaging	Het
Rabac1	A	T	7: 24,970,160	Y173*	probably null	Het
Rapsn	G	A	2: 91,043,212	V288M	possibly damaging	Het
Sec31a	A	G	5: 100,365,958	S993P	probably damaging	Het
Serpina9	T	A	12: 104,001,294	M281L	probably benign	Het
Serpine1	G	A	5: 137,069,468	A117V	probably damaging	Het
Sh3tc2	A	G	18: 61,987,693		probably null	Het
Sipa1l2	T	C	8: 125,492,226	D124G	probably benign	Het
Slc6a12	T	A	6: 121,353,530		probably null	Het
Stk11	A	G	10: 80,116,601		probably benign	Het
Tcaf3	A	G	6: 42,589,996	Y720H	probably damaging	Het
Tmem38a	C	T	8: 72,572,161	P20S	possibly damaging	Het
Tmprss11a	C	T	5: 86,420,196	R224K	probably damaging	Het
Tmprss15	C	T	16: 78,957,356	S988N	probably benign	Het
Txn2	A	T	15: 77,915,443		probably null	Het
Ugt1a10	T	A	1: 88,056,197	V239E	probably damaging	Het
Vmn2r102	A	G	17: 19,681,213	Y534C	probably damaging	Het
Vmn2r78	A	T	7: 86,954,258	D548V	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
R0686:Ces1a	UTSW	8	93022449	missense	probably damaging	1.00
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
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'- TCTGCAGGGCATTCTTCTGC -3'
(R):5'- TGTGAGTCCTAAATAGTCCAAGC -3'

Sequencing Primer
(F):5'- GCCTGCCCATTCTTAGAGAATTC -3'
(R):5'- AGCCTAACTCTTCTGCGAACG -3'

Posted On

2015-08-18