Incidental Mutation 'R4986:Ces2f'
ID385879
Institutional Source Beutler Lab
Gene Symbol Ces2f
Ensembl Gene ENSMUSG00000062826
Gene Namecarboxylesterase 2F
Synonyms2310038E17Rik
MMRRC Submission 042580-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4986 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location104947356-104960047 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 104952025 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 298 (S298N)
Ref Sequence ENSEMBL: ENSMUSP00000148278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076384] [ENSMUST00000212820] [ENSMUST00000212926]
Predicted Effect probably benign
Transcript: ENSMUST00000076384
AA Change: S298N

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000075722
Gene: ENSMUSG00000062826
AA Change: S298N

DomainStartEndE-ValueType
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: S298N

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000212926
AA Change: S167N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Meta Mutation Damage Score 0.0608 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.2%
Validation Efficiency 95% (41/43)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik A T 14: 49,751,654 D619E probably damaging Het
Abcc9 A T 6: 142,627,591 C1005S probably benign Het
Ccdc34 T C 2: 110,017,869 M1T probably null Het
Ceacam5 T A 7: 17,757,833 N709K possibly damaging Het
Defa30 T A 8: 21,135,416 Y65* probably null Het
Dock3 A C 9: 106,931,983 C1314G probably damaging Het
Emc2 A G 15: 43,511,784 M226V probably benign Het
Fat3 T C 9: 15,998,340 Y2122C probably damaging Het
Gad1 A G 2: 70,600,693 D560G probably benign Het
Gm9944 T C 4: 144,453,190 probably benign Het
Gpr137c A T 14: 45,246,286 probably null Het
Igf2bp2 C T 16: 22,070,306 probably null Het
Igsf10 T C 3: 59,328,606 T1385A probably benign Het
Itpr2 T A 6: 146,240,342 N1734I probably damaging Het
Kbtbd6 A G 14: 79,452,609 H248R probably damaging Het
Macf1 C T 4: 123,391,121 R5650Q probably damaging Het
Mdh1 A G 11: 21,558,545 F266L possibly damaging Het
Mecom G T 3: 29,980,699 P466Q probably damaging Het
Muc20 A G 16: 32,777,635 probably benign Het
Olfr1151 T A 2: 87,857,514 L113Q probably damaging Het
Olfr1265 A T 2: 90,037,428 N170Y probably damaging Het
Osmr A G 15: 6,816,580 probably null Het
Rrs1 G A 1: 9,545,767 E82K probably damaging Het
Sacs T A 14: 61,213,043 Y4179* probably null Het
Sept11 T C 5: 93,161,241 V203A probably damaging Het
Skint9 T A 4: 112,391,713 T173S probably benign Het
Slain1 A T 14: 103,688,105 R296S probably damaging Het
Slc36a3 T A 11: 55,146,766 *93C probably null Het
Sp110 G A 1: 85,591,760 P116S probably benign Het
Srl T C 16: 4,496,782 Y332C probably benign Het
Ubtf G A 11: 102,314,174 H95Y probably benign Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,211,984 probably benign Het
Wdfy3 C T 5: 101,943,119 D532N probably benign Het
Ybx1 C T 4: 119,282,430 V123I probably damaging Het
Zfp944 A T 17: 22,339,230 H345Q probably damaging Het
Zfp993 T A 4: 146,657,557 F113I probably benign Het
Other mutations in Ces2f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Ces2f APN 8 104949973 missense probably damaging 1.00
IGL00160:Ces2f APN 8 104949972 missense probably damaging 1.00
IGL01680:Ces2f APN 8 104954073 missense probably benign 0.10
IGL01683:Ces2f APN 8 104953101 missense probably benign 0.39
IGL02685:Ces2f APN 8 104953098 nonsense probably null
R0545:Ces2f UTSW 8 104950036 missense possibly damaging 0.66
R0707:Ces2f UTSW 8 104950986 missense possibly damaging 0.88
R1170:Ces2f UTSW 8 104953546 missense probably damaging 0.99
R1476:Ces2f UTSW 8 104952502 missense possibly damaging 0.60
R4105:Ces2f UTSW 8 104951192 splice site probably null
R4394:Ces2f UTSW 8 104950954 missense probably damaging 1.00
R4436:Ces2f UTSW 8 104953156 missense probably benign 0.00
R4601:Ces2f UTSW 8 104949964 missense probably damaging 1.00
R5502:Ces2f UTSW 8 104952523 missense possibly damaging 0.60
R6610:Ces2f UTSW 8 104950106 critical splice donor site probably null
R7078:Ces2f UTSW 8 104954652 missense probably damaging 0.98
R7357:Ces2f UTSW 8 104949963 missense probably benign 0.03
R7480:Ces2f UTSW 8 104954706 missense possibly damaging 0.49
R7497:Ces2f UTSW 8 104954698 missense probably benign 0.00
R8403:Ces2f UTSW 8 104948176 missense possibly damaging 0.95
Z1177:Ces2f UTSW 8 104948235 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTAGCTGTCAACTCTGAGCAAC -3'
(R):5'- ACTCTATGAGGCAAGCTGC -3'

Sequencing Primer
(F):5'- TCAACTCTGAGCAACAGGAAAATAG -3'
(R):5'- GCAAGCTGCACCTTTCATTTTG -3'
Posted On2016-05-10