Incidental Mutation 'IGL00160:Ces2f'
ID1373
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ces2f
Ensembl Gene ENSMUSG00000062826
Gene Namecarboxylesterase 2F
Synonyms2310038E17Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00160
Quality Score
Status
Chromosome8
Chromosomal Location104947356-104960047 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 104949972 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Histidine at position 99 (Q99H)
Ref Sequence ENSEMBL: ENSMUSP00000148278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076384] [ENSMUST00000212820] [ENSMUST00000212926]
Predicted Effect probably damaging
Transcript: ENSMUST00000076384
AA Change: Q99H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075722
Gene: ENSMUSG00000062826
AA Change: Q99H

DomainStartEndE-ValueType
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: Q99H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212926
AA Change: Q99H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563D23Rik T C 16: 92,321,002 K133E possibly damaging Het
4931406P16Rik G A 7: 34,239,006 H1035Y possibly damaging Het
4932414N04Rik C T 2: 68,732,875 A387V probably benign Het
Adamts3 C T 5: 89,861,325 V160I probably damaging Het
Arhgef26 T C 3: 62,340,383 V296A probably benign Het
Bdp1 A T 13: 100,061,198 M893K probably benign Het
Camk2d T A 3: 126,838,272 C407* probably null Het
Casc1 T A 6: 145,175,290 H601L probably benign Het
Ces1h T C 8: 93,357,463 D373G probably benign Het
Dlg5 T C 14: 24,191,161 T223A probably damaging Het
Dnmt3l A G 10: 78,057,355 D322G probably damaging Het
Fbxl20 C T 11: 98,090,674 G396D possibly damaging Het
Gldc T C 19: 30,115,240 T760A probably damaging Het
Gm6483 T A 8: 19,691,647 noncoding transcript Het
Hcrtr2 A T 9: 76,228,155 V460D possibly damaging Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Men1 G A 19: 6,337,207 probably null Het
Mrgpra2a A T 7: 47,426,538 M324K probably damaging Het
N4bp3 C T 11: 51,645,316 A230T probably benign Het
Nphs1 T G 7: 30,482,551 W1204G possibly damaging Het
Obscn C A 11: 59,002,057 A6788S probably benign Het
Ofcc1 T C 13: 40,142,804 D518G probably damaging Het
Optc T C 1: 133,902,108 Y188C probably damaging Het
Prss45 C A 9: 110,841,005 A285E probably damaging Het
Rcan2 C T 17: 44,037,069 T223I possibly damaging Het
Snrnp70 A G 7: 45,377,354 probably null Het
Sorbs1 T A 19: 40,318,029 T1064S probably damaging Het
Sptb T C 12: 76,623,169 K462E probably damaging Het
Sstr1 A G 12: 58,212,750 E53G probably benign Het
Stxbp2 A T 8: 3,636,354 probably null Het
Tex35 G A 1: 157,099,756 probably benign Het
Thnsl1 T C 2: 21,212,449 F338S possibly damaging Het
Trpv1 C T 11: 73,260,362 A424V probably damaging Het
Unc80 A T 1: 66,654,395 H2535L possibly damaging Het
Usp46 T C 5: 74,002,686 E333G probably null Het
Vmn1r27 T C 6: 58,215,134 Y245C probably benign Het
Zfp488 T C 14: 33,971,069 M46V probably benign Het
Zfp566 G T 7: 30,078,511 Q82K probably benign Het
Znhit6 T C 3: 145,578,160 S62P probably damaging Het
Znrf3 T C 11: 5,289,039 H108R probably damaging Het
Other mutations in Ces2f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Ces2f APN 8 104949973 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
R4986:Ces2f UTSW 8 104952025 missense probably benign 0.39
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
Z1177:Ces2f UTSW 8 104948235 missense probably damaging 1.00
Posted On2011-07-12