Mutagenetix > Incidental Mutation

Incidental Mutation 'R6086:Ces1a'

482485

Institutional Source

Beutler Lab

Gene Symbol

Ces1a

Ensembl Gene

ENSMUSG00000071047

Gene Name

carboxylesterase 1A

Synonyms

Gm4976

MMRRC Submission

044427-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6086 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93020214-93048192 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 93027353 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 341 (N341H)

Ref Sequence

ENSEMBL: ENSMUSP00000092836 (fasta)

Gene Model

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

AlphaFold

E9PYP1

Predicted Effect

probably benign
Transcript: ENSMUST00000095211
AA Change: N341H

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000092836
Gene: ENSMUSG00000071047
AA Change: N341H

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: ENSMUST00000209831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210764

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (65/68)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110062M04Rik	A	G	6: 34,874,620 (GRCm38)	S127P	probably damaging	Het
Apob	G	T	12: 8,015,164 (GRCm38)	K4044N	probably benign	Het
Asic4	G	A	1: 75,473,243 (GRCm38)	V468I	possibly damaging	Het
Atf4	T	A	15: 80,257,453 (GRCm38)	V348D	probably benign	Het
Bcl9	A	G	3: 97,205,524 (GRCm38)	V1205A	possibly damaging	Het
Bora	A	T	14: 99,062,294 (GRCm38)	Q234L	possibly damaging	Het
Cap2	C	A	13: 46,635,712 (GRCm38)	P131Q	probably damaging	Het
Cdyl2	A	G	8: 116,589,296 (GRCm38)	S318P	probably damaging	Het
Crlf3	C	T	11: 80,048,610 (GRCm38)	V352M	possibly damaging	Het
Cybb	C	G	X: 9,450,750 (GRCm38)	D246H	probably benign	Het
Dnah2	T	C	11: 69,516,008 (GRCm38)	T529A	probably benign	Het
Dnah9	A	C	11: 66,085,174 (GRCm38)	S1350A	probably benign	Het
Dnah9	C	T	11: 65,989,915 (GRCm38)	D2619N	probably damaging	Het
Dnajc6	C	T	4: 101,597,807 (GRCm38)	S65L	probably benign	Het
Dnm3	C	A	1: 162,321,033 (GRCm38)	R256S	probably damaging	Het
Enpp2	T	C	15: 54,845,834 (GRCm38)	D795G	probably damaging	Het
Fah	A	T	7: 84,588,912 (GRCm38)	W367R	probably damaging	Het
Fam220a	T	A	5: 143,563,041 (GRCm38)	H69Q	probably benign	Het
Fgd3	T	A	13: 49,287,296 (GRCm38)	T220S	probably benign	Het
Furin	G	T	7: 80,395,431 (GRCm38)	H248Q	probably damaging	Het
Gabrg1	A	T	5: 70,754,053 (GRCm38)	L410Q	probably damaging	Het
Gm10801	AAGT	AAGTAGT	2: 98,663,803 (GRCm38)		probably null	Het
Gm9742	T	C	13: 8,030,033 (GRCm38)		noncoding transcript	Het
Gpcpd1	A	G	2: 132,538,114 (GRCm38)	S252P	probably damaging	Het
Hnrnpdl	C	T	5: 100,036,481 (GRCm38)	G398S	probably null	Het
Hspa1l	T	C	17: 34,978,155 (GRCm38)	V390A	possibly damaging	Het
Htr3b	T	C	9: 48,947,298 (GRCm38)	S94G	probably benign	Het
Klf10	G	T	15: 38,296,937 (GRCm38)	S271R	probably benign	Het
Klk1b3	T	A	7: 44,201,734 (GRCm38)	L197Q	probably damaging	Het
Knl1	A	G	2: 119,094,068 (GRCm38)	R1861G	probably damaging	Het
Lexm	T	C	4: 106,613,206 (GRCm38)	E218G	probably damaging	Het
Myo9a	C	T	9: 59,790,057 (GRCm38)	Q374*	probably null	Het
Myt1l	G	A	12: 29,832,332 (GRCm38)	G509R	unknown	Het
Ncapg	T	C	5: 45,693,236 (GRCm38)	L728P	probably damaging	Het
Nfxl1	A	C	5: 72,541,019 (GRCm38)	F228V	probably benign	Het
Oc90	A	G	15: 65,889,711 (GRCm38)	S153P	probably damaging	Het
Olfr1230	A	G	2: 89,296,854 (GRCm38)	C139R	probably damaging	Het
Olfr1458	A	G	19: 13,102,381 (GRCm38)	*308Q	probably null	Het
Pbk	A	T	14: 65,815,253 (GRCm38)	K182*	probably null	Het
Piezo1	A	G	8: 122,501,657 (GRCm38)	F296S	possibly damaging	Het
Psmg1	T	A	16: 95,980,044 (GRCm38)	Y288F	probably damaging	Het
Rab11fip4	G	A	11: 79,683,480 (GRCm38)	D132N	probably damaging	Het
Recql4	T	C	15: 76,704,587 (GRCm38)	D1051G	probably damaging	Het
Reep5	A	C	18: 34,357,131 (GRCm38)	D104E	probably damaging	Het
Rnpepl1	T	C	1: 92,917,681 (GRCm38)	Y441H	probably damaging	Het
Scnm1	T	C	3: 95,130,285 (GRCm38)	I157V	probably benign	Het
Sema3b	T	C	9: 107,600,848 (GRCm38)	D446G	probably damaging	Het
Sema4d	C	T	13: 51,713,745 (GRCm38)	R190Q	probably damaging	Het
Slco3a1	G	A	7: 74,318,590 (GRCm38)	R461C	possibly damaging	Het
Tcrg-C3	T	C	13: 19,263,284 (GRCm38)	S136P	probably damaging	Het
Tenm2	T	A	11: 36,008,646 (GRCm38)	I2562F	possibly damaging	Het
Thegl	T	A	5: 77,061,305 (GRCm38)	V458E	probably benign	Het
Tmem40	G	T	6: 115,733,667 (GRCm38)	N120K	possibly damaging	Het
Tmod3	T	C	9: 75,500,123 (GRCm38)	H351R	probably benign	Het
Tnn	C	T	1: 160,086,120 (GRCm38)	V1268M	probably damaging	Het
Tpmt	T	A	13: 47,035,030 (GRCm38)	D132V	probably damaging	Het
Trib1	G	A	15: 59,654,475 (GRCm38)	R298H	probably damaging	Het
Tsen2	A	G	6: 115,560,075 (GRCm38)	E264G	probably benign	Het
Urah	A	G	7: 140,836,798 (GRCm38)	I60M	probably benign	Het
Vmn2r26	T	A	6: 124,039,560 (GRCm38)	S328T	possibly damaging	Het
Vmn2r27	G	C	6: 124,191,999 (GRCm38)	T724R	probably damaging	Het
Washc2	A	G	6: 116,256,216 (GRCm38)		probably null	Het
Wdyhv1	C	A	15: 58,150,628 (GRCm38)	A71E	probably damaging	Het
Zfp955b	T	A	17: 33,302,504 (GRCm38)	W316R	probably benign	Het
Zranb2	T	C	3: 157,543,246 (GRCm38)		probably null	Het

Other mutations in Ces1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Ces1a	APN	8	93,020,467 (GRCm38)	missense	probably damaging	1.00
IGL00556:Ces1a	APN	8	93,045,059 (GRCm38)	missense	probably benign	0.03
IGL00841:Ces1a	APN	8	93,039,536 (GRCm38)	nonsense	probably null
IGL01510:Ces1a	APN	8	93,045,098 (GRCm38)	missense	probably damaging	1.00
IGL01511:Ces1a	APN	8	93,045,098 (GRCm38)	missense	probably damaging	1.00
IGL01518:Ces1a	APN	8	93,045,098 (GRCm38)	missense	probably damaging	1.00
IGL01519:Ces1a	APN	8	93,045,098 (GRCm38)	missense	probably damaging	1.00
IGL01520:Ces1a	APN	8	93,045,098 (GRCm38)	missense	probably damaging	1.00
IGL01526:Ces1a	APN	8	93,045,098 (GRCm38)	missense	probably damaging	1.00
IGL01527:Ces1a	APN	8	93,045,098 (GRCm38)	missense	probably damaging	1.00
IGL01828:Ces1a	APN	8	93,025,201 (GRCm38)	missense	probably damaging	0.96
IGL01934:Ces1a	APN	8	93,032,650 (GRCm38)	missense	probably damaging	0.99
IGL02456:Ces1a	APN	8	93,039,498 (GRCm38)	missense	possibly damaging	0.56
IGL02712:Ces1a	APN	8	93,036,040 (GRCm38)	missense	probably damaging	1.00
IGL02982:Ces1a	APN	8	93,044,975 (GRCm38)	missense	probably damaging	1.00
IGL03178:Ces1a	APN	8	93,020,889 (GRCm38)	missense	probably damaging	1.00
IGL03377:Ces1a	APN	8	93,039,488 (GRCm38)	missense	probably damaging	1.00
R0556:Ces1a	UTSW	8	93,045,112 (GRCm38)	missense	probably benign	0.01
R0613:Ces1a	UTSW	8	93,025,581 (GRCm38)	missense	probably benign	0.11
R0627:Ces1a	UTSW	8	93,042,043 (GRCm38)	missense	probably benign	0.03
R0686:Ces1a	UTSW	8	93,022,449 (GRCm38)	missense	probably damaging	1.00
R0724:Ces1a	UTSW	8	93,039,513 (GRCm38)	missense	probably damaging	0.98
R0930:Ces1a	UTSW	8	93,022,416 (GRCm38)	missense	probably benign	0.00
R1063:Ces1a	UTSW	8	93,022,416 (GRCm38)	missense	probably benign	0.00
R1215:Ces1a	UTSW	8	93,032,690 (GRCm38)	missense	probably damaging	1.00
R1381:Ces1a	UTSW	8	93,034,031 (GRCm38)	missense	probably damaging	0.98
R1417:Ces1a	UTSW	8	93,022,416 (GRCm38)	missense	probably benign	0.00
R1850:Ces1a	UTSW	8	93,027,326 (GRCm38)	missense	probably damaging	1.00
R2072:Ces1a	UTSW	8	93,048,075 (GRCm38)	missense	probably benign	0.29
R2074:Ces1a	UTSW	8	93,048,075 (GRCm38)	missense	probably benign	0.29
R2075:Ces1a	UTSW	8	93,048,075 (GRCm38)	missense	probably benign	0.29
R2114:Ces1a	UTSW	8	93,039,551 (GRCm38)	missense	possibly damaging	0.93
R2213:Ces1a	UTSW	8	93,025,225 (GRCm38)	missense	probably damaging	1.00
R2346:Ces1a	UTSW	8	93,025,319 (GRCm38)	missense	probably benign	0.07
R2347:Ces1a	UTSW	8	93,025,319 (GRCm38)	missense	probably benign	0.07
R2483:Ces1a	UTSW	8	93,027,341 (GRCm38)	missense	probably damaging	1.00
R4515:Ces1a	UTSW	8	93,020,904 (GRCm38)	missense	probably damaging	1.00
R4587:Ces1a	UTSW	8	93,025,304 (GRCm38)	missense	probably damaging	1.00
R4691:Ces1a	UTSW	8	93,032,659 (GRCm38)	missense	probably benign	0.00
R4992:Ces1a	UTSW	8	93,045,022 (GRCm38)	missense	probably benign	0.08
R5074:Ces1a	UTSW	8	93,032,675 (GRCm38)	missense	possibly damaging	0.77
R7390:Ces1a	UTSW	8	93,044,841 (GRCm38)	splice site	probably null
R8926:Ces1a	UTSW	8	93,025,213 (GRCm38)	missense	probably benign	0.05
R9365:Ces1a	UTSW	8	93,048,099 (GRCm38)	missense	probably benign	0.00
R9582:Ces1a	UTSW	8	93,039,528 (GRCm38)	missense	probably benign	0.33
R9636:Ces1a	UTSW	8	93,032,635 (GRCm38)	missense	probably benign	0.17
Z1088:Ces1a	UTSW	8	93,025,607 (GRCm38)	missense	probably benign	0.02
Z1176:Ces1a	UTSW	8	93,036,085 (GRCm38)	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- CAGGGCAAAACTGGATCATCTTG -3'
(R):5'- ACCTTGAACTTCTGTGGTCAC -3'

Posted On

2017-07-14