Mutagenetix > Incidental Mutation

Incidental Mutation 'R6256:Ces1f'

506120

Institutional Source

Beutler Lab

Gene Symbol

Ces1f

Ensembl Gene

ENSMUSG00000031725

Gene Name

carboxylesterase 1F

Synonyms

TGH-2, CesML1

MMRRC Submission

044373-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R6256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93256236-93279747 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93265794 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 343 (V343E)

Ref Sequence

ENSEMBL: ENSMUSP00000034178 (fasta)

Gene Model

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

AlphaFold

Q91WU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000034178
AA Change: V343E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034178
Gene: ENSMUSG00000031725
AA Change: V343E

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: ENSMUST00000124066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151261

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 72,451,428	Q361L	probably damaging	Het
Abca7	A	G	10: 80,002,622	T577A	probably damaging	Het
Acad12	A	T	5: 121,614,086	V54E	probably benign	Het
Ago4	A	G	4: 126,520,226	Y91H	probably damaging	Het
Akr1b10	T	C	6: 34,387,688	V28A	probably damaging	Het
Ccdc33	T	A	9: 58,101,918		probably null	Het
Ccdc7a	T	C	8: 128,935,593		probably null	Het
Cftr	T	C	6: 18,274,661	L896P	probably damaging	Het
Csmd3	G	A	15: 47,669,729	P2375S	probably damaging	Het
Dnajb14	G	C	3: 137,908,362	A345P	probably damaging	Het
Dnajb14	C	T	3: 137,908,363	A345V	probably damaging	Het
Dnase1	G	A	16: 4,037,621	R24K	probably benign	Het
Dnmbp	C	T	19: 43,852,281	V560M	probably damaging	Het
Dopey2	T	A	16: 93,807,214	I1981N	possibly damaging	Het
Eif3a	A	C	19: 60,771,026	S770A	possibly damaging	Het
Fbxl7	A	T	15: 26,553,002	C60S	probably benign	Het
Fras1	A	T	5: 96,733,843	D2478V	possibly damaging	Het
Hrnr	A	G	3: 93,322,611	D52G	probably damaging	Het
Jmjd1c	T	A	10: 67,220,408	L823M	probably damaging	Het
Kdm1a	G	T	4: 136,568,600	C172*	probably null	Het
Kdm6b	C	T	11: 69,406,729	E295K	probably damaging	Het
Mepe	A	T	5: 104,337,074	M27L	probably benign	Het
Mogat2	A	T	7: 99,219,895	H305Q	probably damaging	Het
Mst1r	T	A	9: 107,917,266	Y1215N	probably damaging	Het
Muc5ac	A	T	7: 141,789,795	H48L	possibly damaging	Het
Myo7b	T	C	18: 31,983,695	D953G	probably damaging	Het
Ocel1	T	C	8: 71,371,828		probably benign	Het
Pcdhb6	A	G	18: 37,335,925	D633G	probably damaging	Het
Ppm1l	A	G	3: 69,497,897	I176V	probably benign	Het
Sall3	C	T	18: 80,969,861	R1120H	possibly damaging	Het
Sbf1	G	A	15: 89,300,867	P1018S	probably benign	Het
Setbp1	T	C	18: 78,857,257	Y1065C	probably damaging	Het
Slc25a2	T	C	18: 37,637,723		probably null	Het
Slc4a2	C	A	5: 24,435,890	T729K	probably damaging	Het
Sptlc2	T	C	12: 87,355,531	E207G	probably damaging	Het
Sult6b1	A	T	17: 78,906,914	F27I	probably benign	Het
Syf2	A	T	4: 134,934,578	K84N	probably damaging	Het
Tmem209	A	T	6: 30,497,167	N183K	probably benign	Het
Tmem232	G	T	17: 65,478,402	Q188K	possibly damaging	Het
Tomm70a	A	T	16: 57,152,692	T598S	probably benign	Het
Ttll13	A	G	7: 80,258,304	T556A	probably benign	Het
Vmn2r120	A	T	17: 57,524,700	L363*	probably null	Het
Xpo6	G	T	7: 126,108,619	Q872K	probably damaging	Het
Xrra1	A	C	7: 99,914,464	S553R	probably damaging	Het
Zfy1	A	T	Y: 738,765	V147E	unknown	Homo
Zfy2	T	C	Y: 2,116,267	I258V	probably benign	Homo

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
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
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
R7654:Ces1f	UTSW	8	93271934	missense	probably benign	0.00
R7810:Ces1f	UTSW	8	93256918	missense	probably damaging	1.00
R7812:Ces1f	UTSW	8	93258310	missense	probably benign	0.00
R7864:Ces1f	UTSW	8	93274141	missense	possibly damaging	0.65
R7999:Ces1f	UTSW	8	93262995	missense	possibly damaging	0.77
R9048:Ces1f	UTSW	8	93263067	missense	probably benign	0.32
R9289:Ces1f	UTSW	8	93265863	missense	probably benign	0.06
R9389:Ces1f	UTSW	8	93269972	critical splice donor site	probably null
R9598:Ces1f	UTSW	8	93256866	missense	probably benign	0.27
R9745:Ces1f	UTSW	8	93263112	missense	probably benign	0.18
X0026:Ces1f	UTSW	8	93270056	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- AGCATCTCAGTTGGGCCATG -3'
(R):5'- GGGGTCTATGCTCCAGCTATTC -3'

Sequencing Primer
(F):5'- GCCATGCCAGAGAATGTTTC -3'
(R):5'- GCTATTCCCTTAGGACATAGCGAG -3'

Posted On

2018-02-28