Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03265:Ces2a'

415041

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ces2a

Ensembl Gene

ENSMUSG00000055730

Gene Name

carboxylesterase 2A

Synonyms

Ces6, 9130231C15Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL03265

Quality Score

Status

Chromosome

Chromosomal Location

104734003-104741634 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104737443 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 236 (H236Y)

Ref Sequence

ENSEMBL: ENSMUSP00000127346 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034346
AA Change: H236Y

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034346
Gene: ENSMUSG00000055730
AA Change: H236Y

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

possibly damaging
Transcript: ENSMUST00000164182
AA Change: H236Y

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127346
Gene: ENSMUSG00000055730
AA Change: H236Y

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,047,991	D4777E	probably benign	Het
Abca8a	C	A	11: 110,053,103	M1113I	probably benign	Het
Acvr1b	A	G	15: 101,203,078	R374G	probably damaging	Het
Akr1a1	A	G	4: 116,637,817	M286T	probably benign	Het
Anapc1	T	C	2: 128,627,197	S1575G	probably damaging	Het
Apba2	A	G	7: 64,695,323	D87G	probably damaging	Het
Arhgap21	A	G	2: 20,849,628	F1641S	probably benign	Het
Atad2b	T	A	12: 5,024,628	H1062Q	probably benign	Het
Bivm	A	G	1: 44,141,845	R396G	probably damaging	Het
Bmi1	T	A	2: 18,681,861	M17K	possibly damaging	Het
Bptf	T	C	11: 107,054,628	N2480S	probably benign	Het
Cacna2d3	T	C	14: 28,952,286	E944G	probably damaging	Het
Dnah7a	T	C	1: 53,528,848	D1863G	probably benign	Het
Dnajc17	C	A	2: 119,185,718	E91D	probably benign	Het
Dus2	C	A	8: 106,033,791		probably benign	Het
Epha6	T	C	16: 60,060,231		probably benign	Het
Erap1	A	T	13: 74,664,127	T354S	probably damaging	Het
Fbxo11	T	C	17: 87,992,831	H851R	probably damaging	Het
Gm20532	G	A	2: 26,632,684	C90Y	unknown	Het
Gpr21	T	C	2: 37,518,074	Y211H	probably damaging	Het
Hectd4	A	G	5: 121,259,939		probably benign	Het
Hephl1	G	A	9: 15,060,959	T895I	probably benign	Het
Hey1	T	C	3: 8,664,914	Y161C	probably benign	Het
Kdr	A	G	5: 75,960,773	Y526H	probably damaging	Het
Lpp	A	G	16: 24,761,987	Y151C	probably damaging	Het
Macc1	A	G	12: 119,446,976	N493S	probably benign	Het
Olfr1022	T	A	2: 85,869,150	M186K	possibly damaging	Het
Olfr1101	T	A	2: 86,989,080	Y32F	probably damaging	Het
Olfr315	T	C	11: 58,778,871	V248A	probably damaging	Het
Olfr605	C	A	7: 103,442,448	R225L	probably benign	Het
Olfr786	A	T	10: 129,436,925	T38S	possibly damaging	Het
Pcdhb21	A	G	18: 37,515,153	D445G	probably damaging	Het
Prkra	T	C	2: 76,640,270	N123D	probably benign	Het
Slc25a33	A	C	4: 149,762,436	L56R	probably damaging	Het
Usp36	A	G	11: 118,264,809	V714A	possibly damaging	Het
Vmn1r174	T	A	7: 23,754,473	L188*	probably null	Het
Vmn2r12	A	G	5: 109,092,070	V209A	probably benign	Het
Zfp809	A	G	9: 22,243,043	Y352C	probably benign	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
IGL02529:Ces2a	APN	8	104737219	splice site	probably benign
IGL02625:Ces2a	APN	8	104740278	critical splice donor site	probably null
IGL02869:Ces2a	APN	8	104739059	missense	probably damaging	1.00
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
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

2016-08-02