Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00558:Ces1c'

9634

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ces1c

Ensembl Gene

ENSMUSG00000057400

Gene Name

carboxylesterase 1C

Synonyms

Ces-N, Es-N, Es-1, Ee-1, Es-4, Es1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL00558

Quality Score

Status

Chromosome

Chromosomal Location

93825643-93857911 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 93825899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 520 (T520I)

Ref Sequence

ENSEMBL: ENSMUSP00000034189 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034189]

AlphaFold

P23953

Predicted Effect

probably benign
Transcript: ENSMUST00000034189
AA Change: T520I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000034189
Gene: ENSMUSG00000057400
AA Change: T520I

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	534	4e-167	PFAM
Pfam:Abhydrolase_3	136	235	6.2e-10	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit protection against nerve agents such as chlorpyrifos and chlorpyrifos oxon but increased sensitivity to soman coumarin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,981,671 (GRCm39)	D985G	possibly damaging	Het
Cul3	T	C	1: 80,266,457 (GRCm39)		probably benign	Het
Defa25	T	A	8: 21,575,281 (GRCm39)	Y87N	possibly damaging	Het
Fbn1	C	A	2: 125,171,048 (GRCm39)		probably benign	Het
Gabrp	T	A	11: 33,502,644 (GRCm39)	T407S	possibly damaging	Het
Gtf2ird1	A	T	5: 134,387,745 (GRCm39)	W1083R	probably benign	Het
Rlf	A	T	4: 121,008,170 (GRCm39)	L270H	probably damaging	Het
Serpinb13	T	C	1: 106,924,110 (GRCm39)	V151A	probably damaging	Het
Trps1	T	A	15: 50,524,481 (GRCm39)	T961S	probably damaging	Het
Vps13c	A	G	9: 67,845,139 (GRCm39)	I2074M	possibly damaging	Het

Other mutations in Ces1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Ces1c	APN	8	93,833,301 (GRCm39)	missense	probably benign	0.02
IGL00787:Ces1c	APN	8	93,846,994 (GRCm39)	missense	possibly damaging	0.90
IGL00851:Ces1c	APN	8	93,849,745 (GRCm39)	missense	probably benign	0.00
IGL01598:Ces1c	APN	8	93,845,041 (GRCm39)	missense	probably benign
IGL02616:Ces1c	APN	8	93,833,243 (GRCm39)	missense	probably benign	0.01
IGL03087:Ces1c	APN	8	93,845,042 (GRCm39)	missense	probably benign
IGL03203:Ces1c	APN	8	93,851,216 (GRCm39)	missense	probably damaging	1.00
R0119:Ces1c	UTSW	8	93,834,238 (GRCm39)	missense	probably benign	0.00
R0119:Ces1c	UTSW	8	93,833,345 (GRCm39)	unclassified	probably benign
R0255:Ces1c	UTSW	8	93,854,152 (GRCm39)	missense	probably benign
R0759:Ces1c	UTSW	8	93,857,492 (GRCm39)	nonsense	probably null
R1499:Ces1c	UTSW	8	93,854,233 (GRCm39)	missense	probably benign	0.01
R1926:Ces1c	UTSW	8	93,854,232 (GRCm39)	missense	possibly damaging	0.69
R2087:Ces1c	UTSW	8	93,834,230 (GRCm39)	missense	probably benign	0.00
R2142:Ces1c	UTSW	8	93,857,468 (GRCm39)	missense	probably benign
R2442:Ces1c	UTSW	8	93,849,840 (GRCm39)	missense	probably damaging	1.00
R2971:Ces1c	UTSW	8	93,830,821 (GRCm39)	missense	probably benign	0.01
R3079:Ces1c	UTSW	8	93,846,975 (GRCm39)	missense	probably damaging	1.00
R3080:Ces1c	UTSW	8	93,846,975 (GRCm39)	missense	probably damaging	1.00
R3609:Ces1c	UTSW	8	93,846,960 (GRCm39)	missense	probably damaging	1.00
R4131:Ces1c	UTSW	8	93,827,312 (GRCm39)	missense	probably damaging	1.00
R4633:Ces1c	UTSW	8	93,845,014 (GRCm39)	missense	probably benign	0.00
R4988:Ces1c	UTSW	8	93,827,336 (GRCm39)	missense	probably damaging	1.00
R5081:Ces1c	UTSW	8	93,854,197 (GRCm39)	missense	probably damaging	1.00
R5497:Ces1c	UTSW	8	93,857,343 (GRCm39)	missense	possibly damaging	0.91
R5586:Ces1c	UTSW	8	93,854,227 (GRCm39)	missense	probably benign	0.00
R7013:Ces1c	UTSW	8	93,857,392 (GRCm39)	missense	probably damaging	1.00
R7137:Ces1c	UTSW	8	93,857,470 (GRCm39)	missense	probably benign	0.02
R7611:Ces1c	UTSW	8	93,851,139 (GRCm39)	missense	probably benign	0.00
R7882:Ces1c	UTSW	8	93,833,231 (GRCm39)	missense	probably benign
R8280:Ces1c	UTSW	8	93,825,809 (GRCm39)	missense	possibly damaging	0.53
R8705:Ces1c	UTSW	8	93,857,518 (GRCm39)	missense	probably benign
R8752:Ces1c	UTSW	8	93,846,964 (GRCm39)	missense	probably damaging	1.00
R8896:Ces1c	UTSW	8	93,833,254 (GRCm39)	missense	probably benign
R9470:Ces1c	UTSW	8	93,830,746 (GRCm39)	critical splice donor site	probably null

Posted On

2012-12-06