Mutagenetix > Incidental Mutations

Incidental Mutation 'R1147:Ces1f'

102495

Institutional Source

Beutler Lab

Gene Symbol

Ces1f

Ensembl Gene

ENSMUSG00000031725

Gene Name

carboxylesterase 1F

Synonyms

TGH-2, CesML1

MMRRC Submission

039220-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R1147 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93256236-93279747 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 93258281 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 473 (V473I)

Ref Sequence

ENSEMBL: ENSMUSP00000034178 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034178
AA Change: V473I

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034178
Gene: ENSMUSG00000031725
AA Change: V473I

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: ENSMUST00000156737

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 97.7%
10x: 89.5%
20x: 66.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530032D15Rik	C	G	1: 85,099,505	K113N	probably benign	Het
Adam20	T	C	8: 40,795,618	I255T	possibly damaging	Het
Aknad1	T	A	3: 108,752,541	N290K	possibly damaging	Het
Als2cr12	A	T	1: 58,669,463	Y215N	probably damaging	Het
Ano8	C	A	8: 71,482,017	V447F	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Ash1l	A	T	3: 88,984,887	M1358L	possibly damaging	Het
Ccdc110	A	G	8: 45,944,084	K837E	possibly damaging	Het
Cd19	T	A	7: 126,411,045	D384V	possibly damaging	Het
Chd6	C	T	2: 160,990,271	E994K	probably damaging	Het
Col5a2	G	T	1: 45,376,771	N1405K	probably damaging	Het
Dnah7b	A	G	1: 46,340,266	D3720G	probably damaging	Het
Dsel	T	C	1: 111,862,209	T199A	possibly damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Hrg	G	T	16: 22,961,004	C344F	probably damaging	Het
Htt	T	C	5: 34,851,252	Y1462H	probably damaging	Het
Kcnh2	T	A	5: 24,324,387	I784F	probably damaging	Het
Kifc3	T	C	8: 95,137,918	T55A	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Olfr434	A	T	6: 43,217,212	T100S	probably damaging	Het
Olfr692	G	A	7: 105,369,277	R308Q	probably benign	Het
Oog3	A	G	4: 144,158,412	F318S	possibly damaging	Het
Pde5a	C	T	3: 122,794,313	T376M	probably damaging	Het
Pkhd1l1	A	G	15: 44,537,441	I2204V	probably null	Het
Ppp1r13l	A	G	7: 19,375,847	D731G	probably damaging	Het
Ptk6	C	T	2: 181,195,797	G443D	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,423,504	D749G	probably damaging	Het
Ralgapa1	A	T	12: 55,702,480	D1212E	probably damaging	Het
Rsad1	T	C	11: 94,544,140	Y290C	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Slc6a11	T	A	6: 114,244,870	I507N	possibly damaging	Het
Sybu	A	T	15: 44,746,255	F78I	probably damaging	Het
Tox	A	T	4: 6,823,055	N87K	possibly damaging	Het
Trrap	G	A	5: 144,804,766	G1308R	probably damaging	Het
Trub2	A	G	2: 29,787,632		probably benign	Het
Vmn2r114	A	T	17: 23,311,063	H123Q	probably benign	Het
Vmn2r15	T	A	5: 109,293,206	Y262F	probably damaging	Het
Vmn2r33	C	T	7: 7,554,145	E519K	probably benign	Het
Zfp106	A	T	2: 120,520,536	C1545S	probably damaging	Het

Other mutations in Ces1f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Ces1f	APN	8	93267992	missense	probably benign
IGL01143:Ces1f	APN	8	93271830	critical splice donor site	probably null
IGL01571:Ces1f	APN	8	93258368	missense	probably benign	0.00
IGL01731:Ces1f	APN	8	93267320	missense	possibly damaging	0.73
IGL01733:Ces1f	APN	8	93270014	missense	probably damaging	1.00
IGL02124:Ces1f	APN	8	93265860	missense	possibly damaging	0.54
IGL03058:Ces1f	APN	8	93269972	critical splice donor site	probably null
IGL03124:Ces1f	APN	8	93275384	missense	probably benign
3-1:Ces1f	UTSW	8	93275431	missense	probably benign	0.29
G5030:Ces1f	UTSW	8	93274219	missense	probably benign	0.03
R0025:Ces1f	UTSW	8	93271885	missense	probably benign	0.27
R0025:Ces1f	UTSW	8	93271885	missense	probably benign	0.27
R0113:Ces1f	UTSW	8	93279699	start codon destroyed	probably null	0.93
R0201:Ces1f	UTSW	8	93267329	missense	probably null	0.01
R0306:Ces1f	UTSW	8	93276544	splice site	probably benign
R0317:Ces1f	UTSW	8	93263391	missense	probably benign	0.05
R0558:Ces1f	UTSW	8	93275389	missense	probably benign
R0791:Ces1f	UTSW	8	93271889	missense	possibly damaging	0.52
R0833:Ces1f	UTSW	8	93270024	missense	probably damaging	0.98
R0836:Ces1f	UTSW	8	93270024	missense	probably damaging	0.98
R1087:Ces1f	UTSW	8	93258295	missense	probably damaging	1.00
R1118:Ces1f	UTSW	8	93267242	splice site	probably benign
R1147:Ces1f	UTSW	8	93258281	missense	possibly damaging	0.89
R1183:Ces1f	UTSW	8	93268005	missense	probably benign	0.01
R1371:Ces1f	UTSW	8	93279649	missense	probably damaging	0.98
R1480:Ces1f	UTSW	8	93274154	missense	probably benign	0.07
R1522:Ces1f	UTSW	8	93271889	missense	possibly damaging	0.52
R1681:Ces1f	UTSW	8	93275414	missense	probably benign	0.00
R1865:Ces1f	UTSW	8	93274265	splice site	probably benign
R2437:Ces1f	UTSW	8	93270139	splice site	probably null
R3038:Ces1f	UTSW	8	93256598	missense	probably damaging	1.00
R4199:Ces1f	UTSW	8	93256889	missense	probably benign	0.00
R4406:Ces1f	UTSW	8	93263322	missense	probably benign
R5385:Ces1f	UTSW	8	93265760	nonsense	probably null
R5450:Ces1f	UTSW	8	93265795	missense	probably benign	0.04
R5627:Ces1f	UTSW	8	93279699	start codon destroyed	probably null	0.93
R6182:Ces1f	UTSW	8	93256496	missense	probably benign	0.43
R6256:Ces1f	UTSW	8	93265794	missense	probably damaging	1.00
R6379:Ces1f	UTSW	8	93279651	missense	probably benign
R6443:Ces1f	UTSW	8	93275365	missense	probably benign	0.00
R6967:Ces1f	UTSW	8	93267997	missense	probably benign	0.00
R7158:Ces1f	UTSW	8	93268016	missense	probably benign	0.00
R7323:Ces1f	UTSW	8	93271844	missense	probably damaging	1.00
X0026:Ces1f	UTSW	8	93270056	missense	probably benign	0.12

Predicted Primers

Posted On

2014-01-15