Mutagenetix > Incidental Mutation

Incidental Mutation 'R9057:Ces2f'

688749

Institutional Source

Beutler Lab

Gene Symbol

Ces2f

Ensembl Gene

ENSMUSG00000062826

Gene Name

carboxylesterase 2F

Synonyms

2310038E17Rik

MMRRC Submission

068883-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9057 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105673988-105686679 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 105674744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 49 (H49N)

Ref Sequence

ENSEMBL: ENSMUSP00000075722 (fasta)

Gene Model

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

AlphaFold

Q08ED5

Predicted Effect

probably benign
Transcript: ENSMUST00000076384
AA Change: H49N

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000075722
Gene: ENSMUSG00000062826
AA Change: H49N

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 benign
Transcript: ENSMUST00000212820
AA Change: H49N

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212926
AA Change: H49N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.1609

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	T	A	9: 63,524,782 (GRCm39)		probably benign	Het
Abca2	G	A	2: 25,331,584 (GRCm39)	D1324N	probably benign	Het
Acat1	C	T	9: 53,503,300 (GRCm39)	G180R	probably damaging	Het
AI837181	A	C	19: 5,476,730 (GRCm39)	T298P	probably damaging	Het
Alms1	T	A	6: 85,586,814 (GRCm39)	D556E	unknown	Het
Ankle1	T	A	8: 71,858,961 (GRCm39)	W65R	probably benign	Het
Ano5	A	G	7: 51,203,654 (GRCm39)	N234S	probably benign	Het
Asb7	T	A	7: 66,309,395 (GRCm39)		probably benign	Het
Atad2b	T	A	12: 5,068,102 (GRCm39)	C1033*	probably null	Het
B4galnt1	A	G	10: 127,006,999 (GRCm39)	D452G	probably damaging	Het
B4gat1	G	T	19: 5,089,056 (GRCm39)	A18S	possibly damaging	Het
Bard1	A	G	1: 71,069,807 (GRCm39)	Y724H	probably damaging	Het
Bcl9	A	T	3: 97,112,306 (GRCm39)	M1383K	possibly damaging	Het
Cenpt	C	A	8: 106,576,405 (GRCm39)	*43L	probably null	Het
Col17a1	A	T	19: 47,637,522 (GRCm39)	D1245E	probably damaging	Het
Col19a1	G	T	1: 24,549,962 (GRCm39)	H312N	unknown	Het
Cyb5d2	C	T	11: 72,679,924 (GRCm39)	E124K	probably benign	Het
Dnah5	C	T	15: 28,391,014 (GRCm39)	A3291V	probably damaging	Het
Exo5	A	T	4: 120,779,186 (GRCm39)	D226E	probably damaging	Het
Ggt6	C	T	11: 72,328,067 (GRCm39)	T189M	probably damaging	Het
Gm5592	C	A	7: 40,938,887 (GRCm39)	S723Y	possibly damaging	Het
Golga3	C	T	5: 110,332,465 (GRCm39)	T133M	probably damaging	Het
Heatr5a	C	T	12: 51,986,420 (GRCm39)	E598K	probably damaging	Het
Hfe	T	A	13: 23,889,658 (GRCm39)	I330F	possibly damaging	Het
Htt	A	G	5: 35,009,454 (GRCm39)	I1478M	possibly damaging	Het
Igf1r	T	C	7: 67,833,186 (GRCm39)	F449L	probably damaging	Het
Ints4	T	C	7: 97,158,987 (GRCm39)	V453A	possibly damaging	Het
Ints6	A	G	14: 62,951,740 (GRCm39)		probably null	Het
Klrh1	T	A	6: 129,752,803 (GRCm39)	M1L	probably benign	Het
Kpna4	G	A	3: 69,002,018 (GRCm39)	T248M	probably damaging	Het
Lactb	T	C	9: 66,874,977 (GRCm39)	I372V	possibly damaging	Het
Mib1	T	A	18: 10,795,728 (GRCm39)	D696E	possibly damaging	Het
Mpzl3	G	A	9: 44,979,592 (GRCm39)	R181Q	probably damaging	Het
Mup12	A	T	4: 60,696,779 (GRCm39)	I33N	probably damaging	Het
Myh10	A	G	11: 68,656,011 (GRCm39)	I502V	possibly damaging	Het
Nacad	C	A	11: 6,550,876 (GRCm39)	V772F	possibly damaging	Het
Nbeal2	G	T	9: 110,456,218 (GRCm39)	T2417N	probably benign	Het
Nif3l1	A	G	1: 58,489,648 (GRCm39)	D179G	probably benign	Het
Or2ag17	A	T	7: 106,389,296 (GRCm39)	V304D	probably damaging	Het
Or6e1	T	C	14: 54,520,148 (GRCm39)	E68G	probably damaging	Het
Pan2	A	T	10: 128,156,141 (GRCm39)	H1133L	probably damaging	Het
Pgk2	A	G	17: 40,518,735 (GRCm39)	V231A	possibly damaging	Het
Psmd12	G	A	11: 107,377,328 (GRCm39)	R129Q	probably null	Het
Rpl23a	G	A	11: 78,072,021 (GRCm39)	R139C	probably benign	Het
Sars2	G	T	7: 28,446,246 (GRCm39)	Q158H		Het
Scd3	C	T	19: 44,224,340 (GRCm39)	P191L	probably damaging	Het
Serac1	C	A	17: 6,111,890 (GRCm39)	S262I	probably damaging	Het
Sh3bp1	A	G	15: 78,794,209 (GRCm39)	T526A	probably benign	Het
Slc26a3	A	T	12: 31,520,958 (GRCm39)	T721S	probably benign	Het
Slc8a1	A	C	17: 81,955,479 (GRCm39)	S520A	probably benign	Het
Sp9	A	T	2: 73,103,613 (GRCm39)	S56C	probably damaging	Het
Spire2	T	A	8: 124,095,547 (GRCm39)		probably benign	Het
Syne2	T	G	12: 75,937,167 (GRCm39)	L255R	probably damaging	Het
Tcp11l1	A	G	2: 104,528,026 (GRCm39)	I156T	probably damaging	Het
Tnrc6b	G	A	15: 80,763,349 (GRCm39)	A284T	probably benign	Het
Trappc14	A	T	5: 138,260,949 (GRCm39)	V232E	probably damaging	Het
Tsc1	T	A	2: 28,575,874 (GRCm39)	L919H	probably damaging	Het
Vps13c	T	A	9: 67,828,209 (GRCm39)	H1454Q	probably benign	Het
Vps41	T	A	13: 19,027,702 (GRCm39)	D537E	probably benign	Het
Wnt16	T	A	6: 22,288,823 (GRCm39)	C47S	probably damaging	Het
Zfhx2	C	T	14: 55,310,027 (GRCm39)	E840K	possibly damaging	Het
Zfp61	A	T	7: 23,990,702 (GRCm39)	V483E	probably benign	Het
Zfp870	A	T	17: 33,102,793 (GRCm39)	S179T	probably benign	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
R8869:Ces2f	UTSW	8	105,676,704 (GRCm39)	missense	probably damaging	1.00
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
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'- AATTGAGGAACCCTGGCTTCC -3'
(R):5'- CTTCCGCATGGCCTAGATGTTG -3'

Sequencing Primer
(F):5'- CCTTCCTGTGAGCTCTGATAATAAC -3'
(R):5'- GTTGGAACATATTTTCACCCCAG -3'

Posted On

2021-11-19