Incidental Mutation 'R1147:Ces1f'
ID 165168
Institutional Source Beutler Lab
Gene Symbol Ces1f
Ensembl Gene ENSMUSG00000031725
Gene Name carboxylesterase 1F
Synonyms CesML1, TGH-2
MMRRC Submission 039220-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R1147 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 93982864-94006375 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 93984909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 473 (V473I)
Ref Sequence ENSEMBL: ENSMUSP00000034178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034178]
AlphaFold Q91WU0
Predicted Effect possibly damaging
Transcript: ENSMUST00000034178
AA Change: V473I

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034178
Gene: ENSMUSG00000031725
AA Change: V473I

DomainStartEndE-ValueType
Pfam:COesterase 1 545 2.5e-166 PFAM
Pfam:Abhydrolase_3 136 244 4e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156737
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.6%
Validation Efficiency 98% (47/48)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 T C 8: 41,248,655 (GRCm39) I255T possibly damaging Het
Aknad1 T A 3: 108,659,857 (GRCm39) N290K possibly damaging Het
Ano8 C A 8: 71,934,661 (GRCm39) V447F probably damaging Het
Arhgef12 C T 9: 42,955,552 (GRCm39) probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Ash1l A T 3: 88,892,194 (GRCm39) M1358L possibly damaging Het
Ccdc110 A G 8: 46,397,121 (GRCm39) K837E possibly damaging Het
Cd19 T A 7: 126,010,217 (GRCm39) D384V possibly damaging Het
Chd6 C T 2: 160,832,191 (GRCm39) E994K probably damaging Het
Col5a2 G T 1: 45,415,931 (GRCm39) N1405K probably damaging Het
Dnah7b A G 1: 46,379,426 (GRCm39) D3720G probably damaging Het
Dsel T C 1: 111,789,939 (GRCm39) T199A possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Flacc1 A T 1: 58,708,622 (GRCm39) Y215N probably damaging Het
Hrg G T 16: 22,779,754 (GRCm39) C344F probably damaging Het
Htt T C 5: 35,008,596 (GRCm39) Y1462H probably damaging Het
Kcnh2 T A 5: 24,529,385 (GRCm39) I784F probably damaging Het
Kifc3 T C 8: 95,864,546 (GRCm39) T55A probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lsamp G A 16: 41,994,499 (GRCm39) probably benign Het
Meis3 G A 7: 15,917,701 (GRCm39) probably benign Het
Nlrp4d A T 7: 10,122,644 (GRCm39) N73K probably benign Het
Oog3 A G 4: 143,884,982 (GRCm39) F318S possibly damaging Het
Or2a20 A T 6: 43,194,146 (GRCm39) T100S probably damaging Het
Or52w1 G A 7: 105,018,484 (GRCm39) R308Q probably benign Het
Pde5a C T 3: 122,587,962 (GRCm39) T376M probably damaging Het
Pkhd1l1 A G 15: 44,400,837 (GRCm39) I2204V probably null Het
Ppp1r13l A G 7: 19,109,772 (GRCm39) D731G probably damaging Het
Prob1 G A 18: 35,787,859 (GRCm39) Q132* probably null Het
Ptk6 C T 2: 180,837,590 (GRCm39) G443D probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ptprs T C 17: 56,730,504 (GRCm39) D749G probably damaging Het
Ralgapa1 A T 12: 55,749,265 (GRCm39) D1212E probably damaging Het
Rsad1 T C 11: 94,434,966 (GRCm39) Y290C probably damaging Het
Scamp1 A G 13: 94,361,394 (GRCm39) probably null Het
Slc6a11 T A 6: 114,221,831 (GRCm39) I507N possibly damaging Het
Stx18 T G 5: 38,284,267 (GRCm39) probably benign Het
Sybu A T 15: 44,609,651 (GRCm39) F78I probably damaging Het
Tecpr2 T G 12: 110,907,872 (GRCm39) probably benign Het
Tox A T 4: 6,823,055 (GRCm39) N87K possibly damaging Het
Trrap G A 5: 144,741,576 (GRCm39) G1308R probably damaging Het
Trub2 A G 2: 29,677,644 (GRCm39) probably benign Het
Vmn2r114 A T 17: 23,530,037 (GRCm39) H123Q probably benign Het
Vmn2r15 T A 5: 109,441,072 (GRCm39) Y262F probably damaging Het
Vmn2r33 C T 7: 7,557,144 (GRCm39) E519K probably benign Het
Zfat A T 15: 68,084,432 (GRCm39) probably benign Het
Zfp106 A T 2: 120,351,017 (GRCm39) C1545S probably damaging Het
Other mutations in Ces1f
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R4199:Ces1f UTSW 8 93,983,517 (GRCm39) missense probably benign 0.00
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'- CAGGAGAAAGAGTAGCCATATCCATGC -3'
(R):5'- CAAAGTGCTGGAGAGTTCCATACCG -3'

Sequencing Primer
(F):5'- GAGTAGCCATATCCATGCATACCTC -3'
(R):5'- CTAGGAATTTTCAAAGCCAGGCTG -3'
Posted On 2014-03-28