Mutagenetix > Incidental Mutation

Incidental Mutation 'R8869:Ces2f'

676143

Institutional Source

Beutler Lab

Gene Symbol

Ces2f

Ensembl Gene

ENSMUSG00000062826

Gene Name

carboxylesterase 2F

Synonyms

2310038E17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8869 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105673988-105686679 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 105676704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 133 (P133T)

Ref Sequence

ENSEMBL: ENSMUSP00000075722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076384] [ENSMUST00000212820] [ENSMUST00000212926]

AlphaFold

Q08ED5

Predicted Effect

probably damaging
Transcript: ENSMUST00000076384
AA Change: P133T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075722
Gene: ENSMUSG00000062826
AA Change: P133T

Domain	Start	End	E-Value	Type
Pfam:COesterase	12	540	2.7e-167	PFAM
Pfam:Abhydrolase_3	145	261	1.2e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000212820
AA Change: P133T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212926
AA Change: P133T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit epidermal and follicular hyperkeratosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	G	A	19: 55,266,523 (GRCm39)	R114Q	possibly damaging	Het
Atp1a4	C	T	1: 172,054,690 (GRCm39)	V980I	probably benign	Het
Bltp1	T	A	3: 37,013,007 (GRCm39)	C1895S	probably damaging	Het
Brd1	A	T	15: 88,614,729 (GRCm39)	D55E	probably benign	Het
Cachd1	A	G	4: 100,809,280 (GRCm39)	D255G	probably benign	Het
Ccdc168	A	T	1: 44,097,425 (GRCm39)	D1224E	possibly damaging	Het
Cfap251	A	T	5: 123,460,505 (GRCm39)	M1156L	possibly damaging	Het
Clock	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	5: 76,374,889 (GRCm39)		probably benign	Het
Cyp4f37	A	T	17: 32,844,096 (GRCm39)	I67F	probably benign	Het
Dbf4	T	C	5: 8,448,656 (GRCm39)	I84V		Het
Dcc	T	C	18: 71,511,755 (GRCm39)	T887A	probably benign	Het
Dhdh	G	T	7: 45,137,536 (GRCm39)	N50K	probably benign	Het
Dnah7c	A	T	1: 46,671,504 (GRCm39)	E1631V	probably damaging	Het
Dusp23	A	G	1: 172,460,293 (GRCm39)	C53R	possibly damaging	Het
Efcab6	G	A	15: 83,928,432 (GRCm39)	S54L	probably damaging	Het
Fcamr	T	C	1: 130,739,335 (GRCm39)	F212L	probably damaging	Het
Gfap	G	C	11: 102,787,810 (GRCm39)	A45G	probably benign	Het
Grm8	C	T	6: 27,363,752 (GRCm39)	V588M	probably benign	Het
H1f8	A	G	6: 115,926,911 (GRCm39)	T263A	probably benign	Het
Hoatz	T	A	9: 50,992,832 (GRCm39)		probably null	Het
Inhca	T	C	9: 103,149,831 (GRCm39)	Y242C	probably damaging	Het
Malrd1	T	A	2: 15,570,368 (GRCm39)		probably null	Het
Mxi1	G	A	19: 53,360,126 (GRCm39)	G283S	probably damaging	Het
Myh15	T	C	16: 48,997,366 (GRCm39)	V1728A	probably benign	Het
Nxph2	T	A	2: 23,290,071 (GRCm39)	V141D	probably damaging	Het
Or11l3	T	C	11: 58,515,994 (GRCm39)	E106G	unknown	Het
Or2t26	A	T	11: 49,039,483 (GRCm39)	Y133F	probably damaging	Het
Or4f6	A	T	2: 111,838,596 (GRCm39)	S312T	possibly damaging	Het
Or5b121	A	T	19: 13,507,892 (GRCm39)	N329I	probably damaging	Het
Or5d36	T	A	2: 87,901,753 (GRCm39)		probably null	Het
Or5h25	A	G	16: 58,930,121 (GRCm39)	V284A		Het
Or5w10	A	T	2: 87,375,753 (GRCm39)	M45K	probably damaging	Het
Or8c10	A	G	9: 38,279,142 (GRCm39)	N90S	possibly damaging	Het
Otof	T	A	5: 30,578,325 (GRCm39)	I108F	probably benign	Het
Pcdha4	A	T	18: 37,086,011 (GRCm39)	R65*	probably null	Het
Pde11a	T	C	2: 76,041,434 (GRCm39)	H412R	probably benign	Het
Peli3	C	T	19: 4,982,541 (GRCm39)	G375S	probably damaging	Het
Ppp6r3	A	G	19: 3,561,927 (GRCm39)		probably null	Het
Prcp	T	C	7: 92,559,518 (GRCm39)	V194A	possibly damaging	Het
Prkce	T	C	17: 86,476,370 (GRCm39)		probably null	Het
Prss23	A	T	7: 89,159,887 (GRCm39)	S61T	probably benign	Het
Ptprq	C	T	10: 107,535,469 (GRCm39)	R432H	probably damaging	Het
Rnase2a	T	A	14: 51,493,101 (GRCm39)	N88I	possibly damaging	Het
Rspry1	G	T	8: 95,359,780 (GRCm39)	L230F	probably damaging	Het
Slco1a8	A	G	6: 141,927,810 (GRCm39)	V548A	probably damaging	Het
Smpd2	A	G	10: 41,365,301 (GRCm39)	L65P	probably benign	Het
Sorl1	A	G	9: 41,933,722 (GRCm39)	Y1083H	probably benign	Het
Tjp1	A	G	7: 64,986,386 (GRCm39)	S241P	probably damaging	Het
Tmed6	A	C	8: 107,792,164 (GRCm39)	L27R	probably damaging	Het
Tmem52	G	A	4: 155,553,788 (GRCm39)	C32Y	probably damaging	Het
Tmprss15	C	A	16: 78,750,834 (GRCm39)	G1022*	probably null	Het
Ttn	T	C	2: 76,730,345 (GRCm39)	S5085G	unknown	Het
Vmn2r37	C	T	7: 9,209,854 (GRCm39)	V553M	possibly damaging	Het
Wdr70	A	T	15: 8,123,210 (GRCm39)	M42K	probably benign	Het
Zfp735	T	A	11: 73,602,510 (GRCm39)	C485S	possibly damaging	Het

Other mutations in Ces2f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Ces2f	APN	8	105,676,604 (GRCm39)	missense	probably damaging	1.00
IGL00160:Ces2f	APN	8	105,676,605 (GRCm39)	missense	probably damaging	1.00
IGL01680:Ces2f	APN	8	105,680,705 (GRCm39)	missense	probably benign	0.10
IGL01683:Ces2f	APN	8	105,679,733 (GRCm39)	missense	probably benign	0.39
IGL02685:Ces2f	APN	8	105,679,730 (GRCm39)	nonsense	probably null
R0545:Ces2f	UTSW	8	105,676,668 (GRCm39)	missense	possibly damaging	0.66
R0707:Ces2f	UTSW	8	105,677,618 (GRCm39)	missense	possibly damaging	0.88
R1170:Ces2f	UTSW	8	105,680,178 (GRCm39)	missense	probably damaging	0.99
R1476:Ces2f	UTSW	8	105,679,134 (GRCm39)	missense	possibly damaging	0.60
R4105:Ces2f	UTSW	8	105,677,824 (GRCm39)	splice site	probably null
R4394:Ces2f	UTSW	8	105,677,586 (GRCm39)	missense	probably damaging	1.00
R4436:Ces2f	UTSW	8	105,679,788 (GRCm39)	missense	probably benign	0.00
R4601:Ces2f	UTSW	8	105,676,596 (GRCm39)	missense	probably damaging	1.00
R4986:Ces2f	UTSW	8	105,678,657 (GRCm39)	missense	probably benign	0.39
R5502:Ces2f	UTSW	8	105,679,155 (GRCm39)	missense	possibly damaging	0.60
R6610:Ces2f	UTSW	8	105,676,738 (GRCm39)	critical splice donor site	probably null
R7078:Ces2f	UTSW	8	105,681,284 (GRCm39)	missense	probably damaging	0.98
R7357:Ces2f	UTSW	8	105,676,595 (GRCm39)	missense	probably benign	0.03
R7480:Ces2f	UTSW	8	105,681,338 (GRCm39)	missense	possibly damaging	0.49
R7497:Ces2f	UTSW	8	105,681,330 (GRCm39)	missense	probably benign	0.00
R8403:Ces2f	UTSW	8	105,674,808 (GRCm39)	missense	possibly damaging	0.95
R8558:Ces2f	UTSW	8	105,679,758 (GRCm39)	nonsense	probably null
R8826:Ces2f	UTSW	8	105,679,734 (GRCm39)	missense	probably benign	0.39
R8937:Ces2f	UTSW	8	105,677,669 (GRCm39)	missense	probably damaging	1.00
R8982:Ces2f	UTSW	8	105,679,667 (GRCm39)	missense	probably benign	0.04
R9000:Ces2f	UTSW	8	105,677,661 (GRCm39)	missense	probably benign	0.01
R9057:Ces2f	UTSW	8	105,674,744 (GRCm39)	missense	probably benign	0.21
R9505:Ces2f	UTSW	8	105,676,669 (GRCm39)	missense	probably benign	0.10
R9723:Ces2f	UTSW	8	105,677,463 (GRCm39)	missense	possibly damaging	0.89
R9765:Ces2f	UTSW	8	105,676,678 (GRCm39)	missense	probably damaging	1.00
Z1177:Ces2f	UTSW	8	105,674,867 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGACTAGAAGAAAATCCTAAGGGT -3'
(R):5'- TTAAGTTGTCCTGCATGGCC -3'

Sequencing Primer
(F):5'- CCTATAAAAGGGCTCTTCCTTAGGG -3'
(R):5'- CTGCATGGCCATGAAGCAAAG -3'

Posted On

2021-07-15