Mutagenetix > Incidental Mutation

Incidental Mutation 'R4199:Ces1f'

318677

Institutional Source

Beutler Lab

Gene Symbol

Ces1f

Ensembl Gene

ENSMUSG00000031725

Gene Name

carboxylesterase 1F

Synonyms

CesML1, TGH-2

MMRRC Submission

041029-MU

Accession Numbers

Essential gene?

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

Stock #

R4199 (G1)

Quality Score

198

Status

Not validated

Chromosome

Chromosomal Location

93982864-94006375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93983517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 497 (F497L)

Ref Sequence

ENSEMBL: ENSMUSP00000034178 (fasta)

Gene Model

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

AlphaFold

Q91WU0

Predicted Effect

probably benign
Transcript: ENSMUST00000034178
AA Change: F497L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000034178
Gene: ENSMUSG00000031725
AA Change: F497L

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	C	G	18: 36,794,101 (GRCm39)		probably benign	Het
Cbarp	G	T	10: 79,971,326 (GRCm39)	H173Q	probably damaging	Het
Ccna1	G	A	3: 54,954,736 (GRCm39)	A177V	possibly damaging	Het
Cic	TCCCCC	TCCCCCCC	7: 24,991,095 (GRCm39)		probably null	Het
Disc1	C	T	8: 125,875,198 (GRCm39)	T556I	probably damaging	Het
Dnah3	C	T	7: 119,522,061 (GRCm39)	G4033D	probably damaging	Het
Dnmt1	A	G	9: 20,849,414 (GRCm39)	S63P	probably benign	Het
Eml2	G	A	7: 18,913,364 (GRCm39)	A121T	probably benign	Het
Eps8	T	C	6: 137,491,325 (GRCm39)	N351S	probably damaging	Het
Fbxo34	T	A	14: 47,768,454 (GRCm39)	W605R	probably damaging	Het
Foxg1	T	A	12: 49,432,082 (GRCm39)	S272T	possibly damaging	Het
Gal3st3	T	A	19: 5,357,808 (GRCm39)	Y394*	probably null	Het
Gga1	A	G	15: 78,773,275 (GRCm39)	E301G	probably damaging	Het
Ifitm5	T	A	7: 140,529,149 (GRCm39)	*153Y	probably null	Het
Ighg2b	G	T	12: 113,270,907 (GRCm39)	P110Q	probably damaging	Het
Il17rb	C	T	14: 29,718,601 (GRCm39)	D494N	probably benign	Het
Irf2bp2	C	A	8: 127,318,313 (GRCm39)	A418S	probably damaging	Het
Lcn9	A	G	2: 25,714,773 (GRCm39)	T171A	probably benign	Het
Lcorl	T	C	5: 45,891,130 (GRCm39)	K408E	possibly damaging	Het
Myh14	T	A	7: 44,264,927 (GRCm39)	R1653*	probably null	Het
Naa16	A	T	14: 79,593,311 (GRCm39)	H420Q	probably damaging	Het
Nol8	T	A	13: 49,815,224 (GRCm39)	V426E	possibly damaging	Het
Or1i2	A	T	10: 78,447,901 (GRCm39)	D191E	possibly damaging	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Papln	C	T	12: 83,830,166 (GRCm39)	T1012I	probably null	Het
Pkd1	A	G	17: 24,789,004 (GRCm39)	T921A	probably benign	Het
Pknox1	C	A	17: 31,821,790 (GRCm39)	Q294K	probably damaging	Het
Ppp2ca	A	G	11: 51,989,928 (GRCm39)	N18S	probably benign	Het
Serpinb9d	A	G	13: 33,386,657 (GRCm39)		probably null	Het
Sfxn5	T	A	6: 85,192,724 (GRCm39)	E319V	probably benign	Het
Slc1a1	A	G	19: 28,878,852 (GRCm39)	K197R	probably benign	Het
Spef2	A	G	15: 9,667,366 (GRCm39)	F774S	probably damaging	Het
Syp	A	G	X: 7,506,166 (GRCm39)		probably null	Het
Zfp276	A	G	8: 123,994,564 (GRCm39)	T544A	probably 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
G5030:Ces1f	UTSW	8	94,000,847 (GRCm39)	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- TGCCCAGCCATCTGTACATC -3'
(R):5'- AGGACTCTGTAGACTTTTGACTGTC -3'

Sequencing Primer
(F):5'- CCATCTGTACATCATAGGAGATTGGG -3'
(R):5'- ACTGTCTGTATAGAATGGGTTAAGAG -3'

Posted On

2015-06-10