Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02529:Ces2a'

297250

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ces2a

Ensembl Gene

ENSMUSG00000055730

Gene Name

carboxylesterase 2A

Synonyms

Ces6, 9130231C15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL02529

Quality Score

Status

Chromosome

Chromosomal Location

104734003-104741634 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 104737219 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034346] [ENSMUST00000161824] [ENSMUST00000164182]

AlphaFold

Q8QZR3

Predicted Effect

probably benign
Transcript: ENSMUST00000034346

SMART Domains

Protein: ENSMUSP00000034346
Gene: ENSMUSG00000055730

Domain	Start	End	E-Value	Type
Pfam:COesterase	9	537	1.2e-171	PFAM
Pfam:Abhydrolase_3	142	267	2.9e-11	PFAM
Pfam:Peptidase_S9	156	347	7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159303

Predicted Effect

probably benign
Transcript: ENSMUST00000161824

Predicted Effect

probably benign
Transcript: ENSMUST00000164182

SMART Domains

Protein: ENSMUSP00000127346
Gene: ENSMUSG00000055730

Domain	Start	End	E-Value	Type
Pfam:COesterase	8	276	5e-110	PFAM
Pfam:Abhydrolase_3	142	267	2.6e-11	PFAM
Pfam:Peptidase_S9	156	275	3e-7	PFAM
Pfam:COesterase	259	504	8.3e-47	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,661,233	H925L	probably benign	Het
Agpat5	T	A	8: 18,881,754	Y297N	possibly damaging	Het
Apobec3	C	T	15: 79,897,687		probably benign	Het
Atpaf1	C	A	4: 115,791,269	A161E	probably damaging	Het
Bnc1	A	T	7: 81,977,368	D91E	probably damaging	Het
Capg	G	A	6: 72,555,846	V98I	probably benign	Het
Ccdc7b	C	T	8: 129,178,225	L115F	possibly damaging	Het
Cldn6	T	G	17: 23,681,317	V85G	probably damaging	Het
Clec2e	T	C	6: 129,098,496		probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dhx38	T	C	8: 109,559,013	E396G	probably benign	Het
Dock8	A	T	19: 25,100,926	K532*	probably null	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Gmip	G	A	8: 69,816,789	G537E	probably damaging	Het
Hacd1	T	C	2: 14,045,202	H64R	probably damaging	Het
Hdac3	G	T	18: 37,944,132	Q230K	probably benign	Het
Htt	C	T	5: 34,819,043		probably benign	Het
Il18r1	A	G	1: 40,487,059	D255G	possibly damaging	Het
Krt82	T	A	15: 101,550,396	R70*	probably null	Het
Krt9	G	T	11: 100,189,966	H353Q	probably damaging	Het
Kyat3	T	C	3: 142,720,474	I57T	probably benign	Het
L1td1	A	G	4: 98,737,421	K618E	probably benign	Het
Limch1	C	A	5: 67,002,613	N617K	possibly damaging	Het
Lsm8	T	C	6: 18,851,652	F34S	probably damaging	Het
Man2a2	G	A	7: 80,359,640	A822V	probably damaging	Het
Mmrn2	C	A	14: 34,398,613	A480E	possibly damaging	Het
Mthfd1	A	G	12: 76,303,709	I474V	probably benign	Het
Mycl	A	G	4: 122,996,977	K152R	probably damaging	Het
Numa1	A	G	7: 101,999,953		probably null	Het
Olfr474	G	T	7: 107,955,216	V192F	possibly damaging	Het
Otog	A	C	7: 46,259,957	D617A	probably damaging	Het
Ppef2	A	G	5: 92,244,737	I267T	probably damaging	Het
Ptprq	A	G	10: 107,635,365	Y1392H	probably benign	Het
Rasgrp3	G	T	17: 75,525,102	K639N	possibly damaging	Het
Rgs19	C	T	2: 181,689,150	R203H	probably benign	Het
Scnn1g	C	A	7: 121,742,446		probably benign	Het
Tmem181b-ps	T	C	17: 6,466,921		noncoding transcript	Het
Vmn2r118	A	G	17: 55,610,870	V214A	possibly damaging	Het
Zfp811	T	C	17: 32,797,815	Y417C	probably damaging	Het

Other mutations in Ces2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01933:Ces2a	APN	8	104741415	makesense	probably null
IGL02135:Ces2a	APN	8	104740181	missense	probably benign	0.00
IGL02625:Ces2a	APN	8	104740278	critical splice donor site	probably null
IGL02869:Ces2a	APN	8	104739059	missense	probably damaging	1.00
IGL03265:Ces2a	APN	8	104737443	missense	possibly damaging	0.55
IGL03349:Ces2a	APN	8	104734080	missense	probably damaging	0.99
R0010:Ces2a	UTSW	8	104741396	missense	probably benign	0.00
R0318:Ces2a	UTSW	8	104740824	missense	probably damaging	1.00
R0477:Ces2a	UTSW	8	104737537	missense	probably damaging	0.99
R0561:Ces2a	UTSW	8	104737533	missense	probably benign	0.35
R0619:Ces2a	UTSW	8	104736110	missense	probably benign	0.00
R1665:Ces2a	UTSW	8	104737555	splice site	probably benign
R1737:Ces2a	UTSW	8	104740824	missense	probably damaging	0.98
R2266:Ces2a	UTSW	8	104740190	missense	probably benign	0.02
R2267:Ces2a	UTSW	8	104740190	missense	probably benign	0.02
R2269:Ces2a	UTSW	8	104740190	missense	probably benign	0.02
R2288:Ces2a	UTSW	8	104737437	missense	probably damaging	1.00
R2656:Ces2a	UTSW	8	104736134	missense	probably benign	0.00
R3176:Ces2a	UTSW	8	104739378	splice site	probably benign
R3906:Ces2a	UTSW	8	104739308	missense	probably benign	0.00
R4344:Ces2a	UTSW	8	104737134	missense	probably damaging	1.00
R4708:Ces2a	UTSW	8	104737306	missense	probably benign	0.14
R4780:Ces2a	UTSW	8	104737208	missense	probably damaging	1.00
R5434:Ces2a	UTSW	8	104737409	missense	probably damaging	0.98
R5763:Ces2a	UTSW	8	104736124	missense	probably benign	0.00
R5828:Ces2a	UTSW	8	104739324	missense	probably benign	0.00
R6359:Ces2a	UTSW	8	104736078	missense	probably benign	0.00
R6440:Ces2a	UTSW	8	104741322	missense	probably benign	0.12
R7066:Ces2a	UTSW	8	104740248	missense	probably damaging	0.99
R7267:Ces2a	UTSW	8	104739040	missense	probably benign	0.20
R7395:Ces2a	UTSW	8	104739641	missense	probably benign	0.35
R7455:Ces2a	UTSW	8	104737522	missense	probably damaging	1.00
R7457:Ces2a	UTSW	8	104737389	missense	possibly damaging	0.87
R7567:Ces2a	UTSW	8	104741298	missense	probably benign	0.01
R7683:Ces2a	UTSW	8	104737112	missense	probably benign	0.00
R8328:Ces2a	UTSW	8	104737366	missense	probably damaging	1.00
R8336:Ces2a	UTSW	8	104739033	missense	probably damaging	0.97
R9183:Ces2a	UTSW	8	104734142	missense	possibly damaging	0.95
R9794:Ces2a	UTSW	8	104741264	missense	probably benign	0.16
X0022:Ces2a	UTSW	8	104736142	missense	probably damaging	1.00
Z1176:Ces2a	UTSW	8	104734006	unclassified	probably benign
Z1176:Ces2a	UTSW	8	104734850	missense	probably damaging	1.00

Posted On

2015-04-16