Incidental Mutation 'IGL02982:Ces1a'
ID 406577
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ces1a
Ensembl Gene ENSMUSG00000071047
Gene Name carboxylesterase 1A
Synonyms Gm4976
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02982
Quality Score
Status
Chromosome 8
Chromosomal Location 93746842-93774820 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93771603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 65 (F65L)
Ref Sequence ENSEMBL: ENSMUSP00000092836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095211]
AlphaFold E9PYP1
Predicted Effect probably damaging
Transcript: ENSMUST00000095211
AA Change: F65L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092836
Gene: ENSMUSG00000071047
AA Change: F65L

DomainStartEndE-ValueType
Pfam:COesterase 1 545 5.7e-169 PFAM
Pfam:Abhydrolase_3 136 286 8.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210764
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G T 8: 25,294,447 (GRCm39) A384D probably benign Het
Adamts19 T A 18: 59,157,590 (GRCm39) C961S probably damaging Het
Agbl2 G A 2: 90,636,159 (GRCm39) C565Y probably damaging Het
Aox3 G A 1: 58,166,846 (GRCm39) E190K probably benign Het
Arf2 T G 11: 103,872,602 (GRCm39) D74E probably damaging Het
Bptf T G 11: 106,967,500 (GRCm39) D960A probably damaging Het
Ccdc180 G T 4: 45,903,840 (GRCm39) probably benign Het
Def8 T C 8: 124,183,278 (GRCm39) probably benign Het
Fat4 T C 3: 38,944,992 (GRCm39) L1295P probably damaging Het
Filip1l A G 16: 57,392,595 (GRCm39) H1061R probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gldc A G 19: 30,122,545 (GRCm39) probably null Het
Golgb1 A C 16: 36,746,172 (GRCm39) D2917A probably damaging Het
Gpc5 G A 14: 115,607,400 (GRCm39) C334Y probably damaging Het
Gpsm1 T A 2: 26,214,871 (GRCm39) L252Q probably damaging Het
Iars1 C T 13: 49,863,185 (GRCm39) R546C probably benign Het
Kbtbd8 G T 6: 95,103,547 (GRCm39) V399L probably benign Het
Kcnd2 A T 6: 21,217,148 (GRCm39) D284V probably damaging Het
Kcnj6 T C 16: 94,633,376 (GRCm39) K227R possibly damaging Het
Lhx9 A T 1: 138,766,349 (GRCm39) H155Q probably damaging Het
Mcm9 A G 10: 53,501,922 (GRCm39) V221A probably damaging Het
Myo9a A T 9: 59,815,491 (GRCm39) K2237* probably null Het
Ntf3 A T 6: 126,079,340 (GRCm39) D55E probably damaging Het
Or13a28 A T 7: 140,217,865 (GRCm39) I84F probably benign Het
Or4c15b G T 2: 89,113,453 (GRCm39) T29K probably damaging Het
Plek T A 11: 16,931,826 (GRCm39) I342F probably damaging Het
Polrmt A G 10: 79,574,182 (GRCm39) Y853H probably damaging Het
Psg29 A G 7: 16,945,632 (GRCm39) T401A probably damaging Het
Ptprb A G 10: 116,158,533 (GRCm39) T822A probably benign Het
Ptprq A C 10: 107,422,545 (GRCm39) F1616V probably damaging Het
Rpe65 T A 3: 159,305,998 (GRCm39) V19E probably damaging Het
Scamp2 G A 9: 57,488,832 (GRCm39) A178T probably benign Het
Spata31e5 T C 1: 28,817,135 (GRCm39) H299R probably damaging Het
Spta1 A G 1: 174,014,854 (GRCm39) I445V probably benign Het
Tas2r135 A G 6: 42,383,187 (GRCm39) E242G probably benign Het
Ttc22 T C 4: 106,495,783 (GRCm39) V379A probably damaging Het
Unc5d C T 8: 29,142,881 (GRCm39) G857E probably damaging Het
Usp28 A G 9: 48,929,739 (GRCm39) I43V probably benign Het
Vmn2r68 A T 7: 84,883,649 (GRCm39) M152K probably benign Het
Wrn C T 8: 33,833,094 (GRCm39) G133R probably damaging Het
Zfyve26 G A 12: 79,310,644 (GRCm39) T187M probably damaging Het
Zic2 A G 14: 122,715,979 (GRCm39) E367G probably damaging Het
Other mutations in Ces1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Ces1a APN 8 93,747,095 (GRCm39) missense probably damaging 1.00
IGL00556:Ces1a APN 8 93,771,687 (GRCm39) missense probably benign 0.03
IGL00841:Ces1a APN 8 93,766,164 (GRCm39) nonsense probably null
IGL01510:Ces1a APN 8 93,771,726 (GRCm39) missense probably damaging 1.00
IGL01511:Ces1a APN 8 93,771,726 (GRCm39) missense probably damaging 1.00
IGL01518:Ces1a APN 8 93,771,726 (GRCm39) missense probably damaging 1.00
IGL01519:Ces1a APN 8 93,771,726 (GRCm39) missense probably damaging 1.00
IGL01520:Ces1a APN 8 93,771,726 (GRCm39) missense probably damaging 1.00
IGL01526:Ces1a APN 8 93,771,726 (GRCm39) missense probably damaging 1.00
IGL01527:Ces1a APN 8 93,771,726 (GRCm39) missense probably damaging 1.00
IGL01828:Ces1a APN 8 93,751,829 (GRCm39) missense probably damaging 0.96
IGL01934:Ces1a APN 8 93,759,278 (GRCm39) missense probably damaging 0.99
IGL02456:Ces1a APN 8 93,766,126 (GRCm39) missense possibly damaging 0.56
IGL02712:Ces1a APN 8 93,762,668 (GRCm39) missense probably damaging 1.00
IGL03178:Ces1a APN 8 93,747,517 (GRCm39) missense probably damaging 1.00
IGL03377:Ces1a APN 8 93,766,116 (GRCm39) missense probably damaging 1.00
R0556:Ces1a UTSW 8 93,771,740 (GRCm39) missense probably benign 0.01
R0613:Ces1a UTSW 8 93,752,209 (GRCm39) missense probably benign 0.11
R0627:Ces1a UTSW 8 93,768,671 (GRCm39) missense probably benign 0.03
R0686:Ces1a UTSW 8 93,749,077 (GRCm39) missense probably damaging 1.00
R0724:Ces1a UTSW 8 93,766,141 (GRCm39) missense probably damaging 0.98
R0930:Ces1a UTSW 8 93,749,044 (GRCm39) missense probably benign 0.00
R1063:Ces1a UTSW 8 93,749,044 (GRCm39) missense probably benign 0.00
R1215:Ces1a UTSW 8 93,759,318 (GRCm39) missense probably damaging 1.00
R1381:Ces1a UTSW 8 93,760,659 (GRCm39) missense probably damaging 0.98
R1417:Ces1a UTSW 8 93,749,044 (GRCm39) missense probably benign 0.00
R1850:Ces1a UTSW 8 93,753,954 (GRCm39) missense probably damaging 1.00
R2072:Ces1a UTSW 8 93,774,703 (GRCm39) missense probably benign 0.29
R2074:Ces1a UTSW 8 93,774,703 (GRCm39) missense probably benign 0.29
R2075:Ces1a UTSW 8 93,774,703 (GRCm39) missense probably benign 0.29
R2114:Ces1a UTSW 8 93,766,179 (GRCm39) missense possibly damaging 0.93
R2213:Ces1a UTSW 8 93,751,853 (GRCm39) missense probably damaging 1.00
R2346:Ces1a UTSW 8 93,751,947 (GRCm39) missense probably benign 0.07
R2347:Ces1a UTSW 8 93,751,947 (GRCm39) missense probably benign 0.07
R2483:Ces1a UTSW 8 93,753,969 (GRCm39) missense probably damaging 1.00
R4515:Ces1a UTSW 8 93,747,532 (GRCm39) missense probably damaging 1.00
R4587:Ces1a UTSW 8 93,751,932 (GRCm39) missense probably damaging 1.00
R4691:Ces1a UTSW 8 93,759,287 (GRCm39) missense probably benign 0.00
R4992:Ces1a UTSW 8 93,771,650 (GRCm39) missense probably benign 0.08
R5074:Ces1a UTSW 8 93,759,303 (GRCm39) missense possibly damaging 0.77
R6086:Ces1a UTSW 8 93,753,981 (GRCm39) missense probably benign 0.03
R7390:Ces1a UTSW 8 93,771,469 (GRCm39) splice site probably null
R8926:Ces1a UTSW 8 93,751,841 (GRCm39) missense probably benign 0.05
R9365:Ces1a UTSW 8 93,774,727 (GRCm39) missense probably benign 0.00
R9582:Ces1a UTSW 8 93,766,156 (GRCm39) missense probably benign 0.33
R9636:Ces1a UTSW 8 93,759,263 (GRCm39) missense probably benign 0.17
Z1088:Ces1a UTSW 8 93,752,235 (GRCm39) missense probably benign 0.02
Z1176:Ces1a UTSW 8 93,762,713 (GRCm39) missense probably benign 0.45
Posted On 2016-08-02