Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02982:Ces1a'

406577

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ces1a

Ensembl Gene

ENSMUSG00000071047

Gene Name

carboxylesterase 1A

Synonyms

Gm4976

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02982

Quality Score

Status

Chromosome

Chromosomal Location

93020214-93048192 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93044975 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 65 (F65L)

Ref Sequence

ENSEMBL: ENSMUSP00000092836 (fasta)

Gene Model

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

AlphaFold

E9PYP1

Predicted Effect

probably damaging
Transcript: ENSMUST00000095211
AA Change: F65L

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

SMART Domains

Protein: ENSMUSP00000092836
Gene: ENSMUSG00000071047
AA Change: F65L

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: ENSMUST00000209753

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210764

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	T	8: 24,804,431	A384D	probably benign	Het
Adamts19	T	A	18: 59,024,518	C961S	probably damaging	Het
Agbl2	G	A	2: 90,805,815	C565Y	probably damaging	Het
Aox3	G	A	1: 58,127,687	E190K	probably benign	Het
Arf2	T	G	11: 103,981,776	D74E	probably damaging	Het
Bptf	T	G	11: 107,076,674	D960A	probably damaging	Het
Ccdc180	G	T	4: 45,903,840		probably benign	Het
Def8	T	C	8: 123,456,539		probably benign	Het
Fat4	T	C	3: 38,890,843	L1295P	probably damaging	Het
Filip1l	A	G	16: 57,572,232	H1061R	probably damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gldc	A	G	19: 30,145,145		probably null	Het
Gm597	T	C	1: 28,778,054	H299R	probably damaging	Het
Golgb1	A	C	16: 36,925,810	D2917A	probably damaging	Het
Gpc5	G	A	14: 115,369,988	C334Y	probably damaging	Het
Gpsm1	T	A	2: 26,324,859	L252Q	probably damaging	Het
Iars	C	T	13: 49,709,709	R546C	probably benign	Het
Kbtbd8	G	T	6: 95,126,566	V399L	probably benign	Het
Kcnd2	A	T	6: 21,217,149	D284V	probably damaging	Het
Kcnj6	T	C	16: 94,832,517	K227R	possibly damaging	Het
Lhx9	A	T	1: 138,838,611	H155Q	probably damaging	Het
Mcm9	A	G	10: 53,625,826	V221A	probably damaging	Het
Myo9a	A	T	9: 59,908,208	K2237*	probably null	Het
Ntf3	A	T	6: 126,102,377	D55E	probably damaging	Het
Olfr1229	G	T	2: 89,283,109	T29K	probably damaging	Het
Olfr61	A	T	7: 140,637,952	I84F	probably benign	Het
Plek	T	A	11: 16,981,826	I342F	probably damaging	Het
Polrmt	A	G	10: 79,738,348	Y853H	probably damaging	Het
Psg29	A	G	7: 17,211,707	T401A	probably damaging	Het
Ptprb	A	G	10: 116,322,628	T822A	probably benign	Het
Ptprq	A	C	10: 107,586,684	F1616V	probably damaging	Het
Rpe65	T	A	3: 159,600,361	V19E	probably damaging	Het
Scamp2	G	A	9: 57,581,549	A178T	probably benign	Het
Spta1	A	G	1: 174,187,288	I445V	probably benign	Het
Tas2r135	A	G	6: 42,406,253	E242G	probably benign	Het
Ttc22	T	C	4: 106,638,586	V379A	probably damaging	Het
Unc5d	C	T	8: 28,652,853	G857E	probably damaging	Het
Usp28	A	G	9: 49,018,439	I43V	probably benign	Het
Vmn2r68	A	T	7: 85,234,441	M152K	probably benign	Het
Wrn	C	T	8: 33,343,066	G133R	probably damaging	Het
Zfyve26	G	A	12: 79,263,870	T187M	probably damaging	Het
Zic2	A	G	14: 122,478,567	E367G	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
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
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
Z1088:Ces1a	UTSW	8	93025607	missense	probably benign	0.02
Z1176:Ces1a	UTSW	8	93036085	missense	probably benign	0.45

Posted On

2016-08-02