Mutagenetix > Incidental Mutation

Incidental Mutation 'G5030:Ces1f'

495

Institutional Source

Beutler Lab

Gene Symbol

Ces1f

Ensembl Gene

ENSMUSG00000031725

Gene Name

carboxylesterase 1F

Synonyms

CesML1, TGH-2

Accession Numbers

Essential gene?

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

Stock #

G5030 (G3) of strain 560

Quality Score

Status

Validated

Chromosome

Chromosomal Location

93982864-94006375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94000847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 99 (D99G)

Ref Sequence

ENSEMBL: ENSMUSP00000034178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034178] [ENSMUST00000140026]

AlphaFold

Q91WU0

Predicted Effect

probably benign
Transcript: ENSMUST00000034178
AA Change: D99G

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000034178
Gene: ENSMUSG00000031725
AA Change: D99G

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	545	2.5e-166	PFAM
Pfam:Abhydrolase_3	136	244	4e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133879

Predicted Effect

probably benign
Transcript: ENSMUST00000140026

SMART Domains

Protein: ENSMUSP00000116525
Gene: ENSMUSG00000031725

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 81.1%
3x: 60.2%

Het Detection Efficiency

35.6%

Validation Efficiency

87% (206/237)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 109,961,165 (GRCm39)	I585F	probably damaging	Het
Adam18	C	G	8: 25,141,872 (GRCm39)	L232F	probably benign	Homo
Atp13a4	A	G	16: 29,274,306 (GRCm39)	I385T	probably damaging	Homo
Ccdc17	T	A	4: 116,455,699 (GRCm39)	S277T	probably benign	Het
Ccng1	A	G	11: 40,644,629 (GRCm39)		probably benign	Het
Clec16a	G	A	16: 10,389,425 (GRCm39)	R187Q	probably damaging	Homo
Cryl1	C	T	14: 57,579,595 (GRCm39)		probably benign	Het
Cryzl2	C	T	1: 157,292,580 (GRCm39)	Q48*	probably null	Het
Dtx4	A	G	19: 12,446,943 (GRCm39)	L583P	probably benign	Het
Ephx4	A	T	5: 107,577,693 (GRCm39)	D339V	probably damaging	Het
Eri2	A	T	7: 119,385,601 (GRCm39)	V300E	possibly damaging	Het
F3	T	A	3: 121,518,648 (GRCm39)	N37K	probably damaging	Homo
Fpr1	A	T	17: 18,097,068 (GRCm39)	L307H	probably damaging	Het
Fv1	T	A	4: 147,953,618 (GRCm39)	N61K	possibly damaging	Het
Gm5548	T	C	3: 112,961,512 (GRCm39)		noncoding transcript	Homo
Il1r1	A	G	1: 40,352,323 (GRCm39)	K498E	possibly damaging	Homo
Myh11	T	C	16: 14,068,443 (GRCm39)	I192M	probably damaging	Homo
Nckap5	T	C	1: 125,953,591 (GRCm39)	K923R	probably damaging	Het
Nmbr	A	T	10: 14,642,747 (GRCm39)	Y102F	possibly damaging	Het
Or6c75	A	G	10: 129,337,406 (GRCm39)	T218A	probably benign	Homo
Pde1a	C	T	2: 79,718,180 (GRCm39)		probably benign	Het
Pex6	T	C	17: 47,026,382 (GRCm39)		probably benign	Het
Rtn2	T	C	7: 19,027,099 (GRCm39)	S305P	probably damaging	Homo
Saal1	G	A	7: 46,342,207 (GRCm39)	T412I	probably damaging	Homo
Slc46a2	A	T	4: 59,913,867 (GRCm39)	I352N	probably damaging	Het
Trim37	A	T	11: 87,033,967 (GRCm39)	H99L	probably damaging	Het
Tubgcp4	C	T	2: 121,014,815 (GRCm39)	R242C	probably damaging	Het
Twf2	C	A	9: 106,084,141 (GRCm39)	L27I	possibly damaging	Het
Usp40	A	T	1: 87,921,941 (GRCm39)	H307Q	probably damaging	Het
Zfhx3	T	G	8: 109,678,091 (GRCm39)	V3047G	possibly damaging	Het

Other mutations in Ces1f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Ces1f	APN	8	93,994,620 (GRCm39)	missense	probably benign
IGL01143:Ces1f	APN	8	93,998,458 (GRCm39)	critical splice donor site	probably null
IGL01571:Ces1f	APN	8	93,984,996 (GRCm39)	missense	probably benign	0.00
IGL01731:Ces1f	APN	8	93,993,948 (GRCm39)	missense	possibly damaging	0.73
IGL01733:Ces1f	APN	8	93,996,642 (GRCm39)	missense	probably damaging	1.00
IGL02124:Ces1f	APN	8	93,992,488 (GRCm39)	missense	possibly damaging	0.54
IGL03058:Ces1f	APN	8	93,996,600 (GRCm39)	critical splice donor site	probably null
IGL03124:Ces1f	APN	8	94,002,012 (GRCm39)	missense	probably benign
3-1:Ces1f	UTSW	8	94,002,059 (GRCm39)	missense	probably benign	0.29
R0025:Ces1f	UTSW	8	93,998,513 (GRCm39)	missense	probably benign	0.27
R0025:Ces1f	UTSW	8	93,998,513 (GRCm39)	missense	probably benign	0.27
R0113:Ces1f	UTSW	8	94,006,327 (GRCm39)	start codon destroyed	probably null	0.93
R0201:Ces1f	UTSW	8	93,993,957 (GRCm39)	missense	probably null	0.01
R0306:Ces1f	UTSW	8	94,003,172 (GRCm39)	splice site	probably benign
R0317:Ces1f	UTSW	8	93,990,019 (GRCm39)	missense	probably benign	0.05
R0558:Ces1f	UTSW	8	94,002,017 (GRCm39)	missense	probably benign
R0791:Ces1f	UTSW	8	93,998,517 (GRCm39)	missense	possibly damaging	0.52
R0833:Ces1f	UTSW	8	93,996,652 (GRCm39)	missense	probably damaging	0.98
R0836:Ces1f	UTSW	8	93,996,652 (GRCm39)	missense	probably damaging	0.98
R1087:Ces1f	UTSW	8	93,984,923 (GRCm39)	missense	probably damaging	1.00
R1118:Ces1f	UTSW	8	93,993,870 (GRCm39)	splice site	probably benign
R1147:Ces1f	UTSW	8	93,984,909 (GRCm39)	missense	possibly damaging	0.89
R1147:Ces1f	UTSW	8	93,984,909 (GRCm39)	missense	possibly damaging	0.89
R1183:Ces1f	UTSW	8	93,994,633 (GRCm39)	missense	probably benign	0.01
R1371:Ces1f	UTSW	8	94,006,277 (GRCm39)	missense	probably damaging	0.98
R1480:Ces1f	UTSW	8	94,000,782 (GRCm39)	missense	probably benign	0.07
R1522:Ces1f	UTSW	8	93,998,517 (GRCm39)	missense	possibly damaging	0.52
R1681:Ces1f	UTSW	8	94,002,042 (GRCm39)	missense	probably benign	0.00
R1865:Ces1f	UTSW	8	94,000,893 (GRCm39)	splice site	probably benign
R2437:Ces1f	UTSW	8	93,996,767 (GRCm39)	splice site	probably null
R3038:Ces1f	UTSW	8	93,983,226 (GRCm39)	missense	probably damaging	1.00
R4199:Ces1f	UTSW	8	93,983,517 (GRCm39)	missense	probably benign	0.00
R4406:Ces1f	UTSW	8	93,989,950 (GRCm39)	missense	probably benign
R5385:Ces1f	UTSW	8	93,992,388 (GRCm39)	nonsense	probably null
R5450:Ces1f	UTSW	8	93,992,423 (GRCm39)	missense	probably benign	0.04
R5627:Ces1f	UTSW	8	94,006,327 (GRCm39)	start codon destroyed	probably null	0.93
R6182:Ces1f	UTSW	8	93,983,124 (GRCm39)	missense	probably benign	0.43
R6256:Ces1f	UTSW	8	93,992,422 (GRCm39)	missense	probably damaging	1.00
R6379:Ces1f	UTSW	8	94,006,279 (GRCm39)	missense	probably benign
R6443:Ces1f	UTSW	8	94,001,993 (GRCm39)	missense	probably benign	0.00
R6967:Ces1f	UTSW	8	93,994,625 (GRCm39)	missense	probably benign	0.00
R7158:Ces1f	UTSW	8	93,994,644 (GRCm39)	missense	probably benign	0.00
R7323:Ces1f	UTSW	8	93,998,472 (GRCm39)	missense	probably damaging	1.00
R7654:Ces1f	UTSW	8	93,998,562 (GRCm39)	missense	probably benign	0.00
R7810:Ces1f	UTSW	8	93,983,546 (GRCm39)	missense	probably damaging	1.00
R7812:Ces1f	UTSW	8	93,984,938 (GRCm39)	missense	probably benign	0.00
R7864:Ces1f	UTSW	8	94,000,769 (GRCm39)	missense	possibly damaging	0.65
R7999:Ces1f	UTSW	8	93,989,623 (GRCm39)	missense	possibly damaging	0.77
R9048:Ces1f	UTSW	8	93,989,695 (GRCm39)	missense	probably benign	0.32
R9289:Ces1f	UTSW	8	93,992,491 (GRCm39)	missense	probably benign	0.06
R9389:Ces1f	UTSW	8	93,996,600 (GRCm39)	critical splice donor site	probably null
R9598:Ces1f	UTSW	8	93,983,494 (GRCm39)	missense	probably benign	0.27
R9745:Ces1f	UTSW	8	93,989,740 (GRCm39)	missense	probably benign	0.18
X0026:Ces1f	UTSW	8	93,996,684 (GRCm39)	missense	probably benign	0.12

Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to G transition at position 332 of the AU018778 transcript in exon 3 of 13 total exons. Multiple transcripts of the AU018778 gene are displayed on Ensembl and Vega. The mutated nucleotide causes an aspartic acid to glycine substitution at amino acid 99 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The AU018778 gene encodes a 561 amino acid protein that belongs to the type-B carboxylesterase/lipase family. These enzymes act on carboxylic esters. The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine. These catalytic residues are responsible for the nucleophilic attack on the carbonyl carbon atom of the ester bond.

The D99G change is predicted to be probably damaging by the PolyPhen program (see report).

Posted On

2010-10-26