Mutagenetix > Incidental Mutations

Incidental Mutation 'R4986:Ces2f'

385879

Institutional Source

Beutler Lab

Gene Symbol

Ces2f

Ensembl Gene

ENSMUSG00000062826

Gene Name

carboxylesterase 2F

Synonyms

2310038E17Rik

MMRRC Submission

042580-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4986 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104947356-104960047 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104952025 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 298 (S298N)

Ref Sequence

ENSEMBL: ENSMUSP00000148278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076384] [ENSMUST00000212820] [ENSMUST00000212926]

Predicted Effect

probably benign
Transcript: ENSMUST00000076384
AA Change: S298N

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000075722
Gene: ENSMUSG00000062826
AA Change: S298N

Domain	Start	End	E-Value	Type
Pfam:COesterase	12	540	2.7e-167	PFAM
Pfam:Abhydrolase_3	145	261	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212820
AA Change: S298N

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000212926
AA Change: S167N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0608

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.2%

Validation Efficiency

95% (41/43)

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit epidermal and follicular hyperkeratosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	A	T	14: 49,751,654	D619E	probably damaging	Het
Abcc9	A	T	6: 142,627,591	C1005S	probably benign	Het
Ccdc34	T	C	2: 110,017,869	M1T	probably null	Het
Ceacam5	T	A	7: 17,757,833	N709K	possibly damaging	Het
Defa30	T	A	8: 21,135,416	Y65*	probably null	Het
Dock3	A	C	9: 106,931,983	C1314G	probably damaging	Het
Emc2	A	G	15: 43,511,784	M226V	probably benign	Het
Fat3	T	C	9: 15,998,340	Y2122C	probably damaging	Het
Gad1	A	G	2: 70,600,693	D560G	probably benign	Het
Gm9944	T	C	4: 144,453,190		probably benign	Het
Gpr137c	A	T	14: 45,246,286		probably null	Het
Igf2bp2	C	T	16: 22,070,306		probably null	Het
Igsf10	T	C	3: 59,328,606	T1385A	probably benign	Het
Itpr2	T	A	6: 146,240,342	N1734I	probably damaging	Het
Kbtbd6	A	G	14: 79,452,609	H248R	probably damaging	Het
Macf1	C	T	4: 123,391,121	R5650Q	probably damaging	Het
Mdh1	A	G	11: 21,558,545	F266L	possibly damaging	Het
Mecom	G	T	3: 29,980,699	P466Q	probably damaging	Het
Muc20	A	G	16: 32,777,635		probably benign	Het
Olfr1151	T	A	2: 87,857,514	L113Q	probably damaging	Het
Olfr1265	A	T	2: 90,037,428	N170Y	probably damaging	Het
Osmr	A	G	15: 6,816,580		probably null	Het
Rrs1	G	A	1: 9,545,767	E82K	probably damaging	Het
Sacs	T	A	14: 61,213,043	Y4179*	probably null	Het
Sept11	T	C	5: 93,161,241	V203A	probably damaging	Het
Skint9	T	A	4: 112,391,713	T173S	probably benign	Het
Slain1	A	T	14: 103,688,105	R296S	probably damaging	Het
Slc36a3	T	A	11: 55,146,766	*93C	probably null	Het
Sp110	G	A	1: 85,591,760	P116S	probably benign	Het
Srl	T	C	16: 4,496,782	Y332C	probably benign	Het
Ubtf	G	A	11: 102,314,174	H95Y	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Wdfy3	C	T	5: 101,943,119	D532N	probably benign	Het
Ybx1	C	T	4: 119,282,430	V123I	probably damaging	Het
Zfp944	A	T	17: 22,339,230	H345Q	probably damaging	Het
Zfp993	T	A	4: 146,657,557	F113I	probably benign	Het

Other mutations in Ces2f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Ces2f	APN	8	104949973	missense	probably damaging	1.00
IGL00160:Ces2f	APN	8	104949972	missense	probably damaging	1.00
IGL01680:Ces2f	APN	8	104954073	missense	probably benign	0.10
IGL01683:Ces2f	APN	8	104953101	missense	probably benign	0.39
IGL02685:Ces2f	APN	8	104953098	nonsense	probably null
R0545:Ces2f	UTSW	8	104950036	missense	possibly damaging	0.66
R0707:Ces2f	UTSW	8	104950986	missense	possibly damaging	0.88
R1170:Ces2f	UTSW	8	104953546	missense	probably damaging	0.99
R1476:Ces2f	UTSW	8	104952502	missense	possibly damaging	0.60
R4105:Ces2f	UTSW	8	104951192	splice site	probably null
R4394:Ces2f	UTSW	8	104950954	missense	probably damaging	1.00
R4436:Ces2f	UTSW	8	104953156	missense	probably benign	0.00
R4601:Ces2f	UTSW	8	104949964	missense	probably damaging	1.00
R5502:Ces2f	UTSW	8	104952523	missense	possibly damaging	0.60
R6610:Ces2f	UTSW	8	104950106	critical splice donor site	probably null
R7078:Ces2f	UTSW	8	104954652	missense	probably damaging	0.98
R7357:Ces2f	UTSW	8	104949963	missense	probably benign	0.03
R7480:Ces2f	UTSW	8	104954706	missense	possibly damaging	0.49
R7497:Ces2f	UTSW	8	104954698	missense	probably benign	0.00
R8403:Ces2f	UTSW	8	104948176	missense	possibly damaging	0.95
Z1177:Ces2f	UTSW	8	104948235	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTAGCTGTCAACTCTGAGCAAC -3'
(R):5'- ACTCTATGAGGCAAGCTGC -3'

Sequencing Primer
(F):5'- TCAACTCTGAGCAACAGGAAAATAG -3'
(R):5'- GCAAGCTGCACCTTTCATTTTG -3'

Posted On

2016-05-10