Incidental Mutation 'IGL02244:Ces1e'
ID 286122
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ces1e
Ensembl Gene ENSMUSG00000061959
Gene Name carboxylesterase 1E
Synonyms Es22, egasyn, Eg, Es-22
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02244
Quality Score
Status
Chromosome 8
Chromosomal Location 93927846-93956233 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 93938977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034173] [ENSMUST00000176282]
AlphaFold Q64176
Predicted Effect probably null
Transcript: ENSMUST00000034173
SMART Domains Protein: ENSMUSP00000034173
Gene: ENSMUSG00000061959

DomainStartEndE-ValueType
Pfam:COesterase 1 546 1.7e-174 PFAM
Pfam:Abhydrolase_3 137 282 5.2e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175983
Predicted Effect probably null
Transcript: ENSMUST00000176282
SMART Domains Protein: ENSMUSP00000135636
Gene: ENSMUSG00000061959

DomainStartEndE-ValueType
Pfam:COesterase 1 545 8.9e-166 PFAM
Pfam:Abhydrolase_3 136 292 2.7e-10 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a spontaneous mutation lack stable microsomal beta-glucuronidase and display altered processing of lysosomal beta-glucuronidase in liver. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik G T 16: 90,853,085 (GRCm39) T17K probably benign Het
Agbl1 T C 7: 76,416,120 (GRCm39) S714P probably damaging Het
Araf A G X: 20,719,835 (GRCm39) probably benign Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Armc8 A T 9: 99,365,227 (GRCm39) D638E probably benign Het
Bpifb5 C T 2: 154,067,068 (GRCm39) T107I possibly damaging Het
Col4a3 C A 1: 82,647,492 (GRCm39) probably benign Het
Col4a5 A G X: 140,382,669 (GRCm39) probably benign Het
Crocc T C 4: 140,765,231 (GRCm39) H477R probably benign Het
Dgkd C A 1: 87,842,863 (GRCm39) N130K probably benign Het
Dock1 C T 7: 134,379,174 (GRCm39) Q634* probably null Het
Dzip3 C T 16: 48,801,351 (GRCm39) V58I probably benign Het
Fndc3a A G 14: 72,793,807 (GRCm39) probably benign Het
Glp2r C T 11: 67,612,817 (GRCm39) R379H probably damaging Het
Kctd12b T A X: 152,472,330 (GRCm39) M120L probably benign Het
Krt33b A G 11: 99,916,189 (GRCm39) V258A probably benign Het
Lpin1 T A 12: 16,591,770 (GRCm39) N819I probably damaging Het
Lurap1l T C 4: 80,871,866 (GRCm39) S120P probably damaging Het
Lysmd4 T C 7: 66,875,672 (GRCm39) S112P probably damaging Het
Myo1e A G 9: 70,274,971 (GRCm39) K708R probably benign Het
Nr3c1 T A 18: 39,554,610 (GRCm39) probably benign Het
Nup62cl G T X: 138,922,780 (GRCm39) N239K probably benign Het
Nwd1 A T 8: 73,434,210 (GRCm39) E1269V probably damaging Het
Or52e7 C T 7: 104,685,152 (GRCm39) T249M probably damaging Het
Pcdh9 A C 14: 93,564,204 (GRCm39) L1084R probably damaging Het
Plxnd1 A G 6: 115,955,218 (GRCm39) M543T probably benign Het
Prss53 T A 7: 127,487,964 (GRCm39) T173S possibly damaging Het
Reep2 C A 18: 34,973,807 (GRCm39) probably benign Het
Rp1 T C 1: 4,419,003 (GRCm39) D703G probably benign Het
Sbf2 T G 7: 110,159,502 (GRCm39) D36A probably damaging Het
Sh3kbp1 C T X: 158,586,724 (GRCm39) R99W probably damaging Het
Sis T A 3: 72,863,523 (GRCm39) R238S probably benign Het
Slc35e2 T A 4: 155,703,019 (GRCm39) V344D probably damaging Het
Specc1 G A 11: 62,019,194 (GRCm39) V678I probably benign Het
Supt6 T C 11: 78,123,623 (GRCm39) D49G possibly damaging Het
Tecpr1 G A 5: 144,146,821 (GRCm39) A515V probably benign Het
Tlr4 G A 4: 66,752,298 (GRCm39) probably null Het
Tmco5b A G 2: 113,118,619 (GRCm39) E114G probably damaging Het
Tspear A T 10: 77,688,690 (GRCm39) probably benign Het
Txlnb T A 10: 17,719,116 (GRCm39) V649E probably benign Het
Utp20 A G 10: 88,651,818 (GRCm39) probably benign Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging Het
Vmn2r70 T A 7: 85,214,211 (GRCm39) T314S probably benign Het
Zfp938 G T 10: 82,061,906 (GRCm39) T238K possibly damaging Het
Other mutations in Ces1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00900:Ces1e APN 8 93,944,245 (GRCm39) missense probably damaging 0.98
IGL01358:Ces1e APN 8 93,940,778 (GRCm39) missense probably damaging 0.99
IGL01597:Ces1e APN 8 93,937,001 (GRCm39) missense probably benign 0.01
IGL01875:Ces1e APN 8 93,950,524 (GRCm39) missense probably benign 0.03
IGL03260:Ces1e APN 8 93,950,545 (GRCm39) missense probably benign 0.00
IGL03302:Ces1e APN 8 93,950,521 (GRCm39) critical splice donor site probably null
chaingun UTSW 8 93,950,586 (GRCm39) missense probably damaging 1.00
Chomper UTSW 8 93,928,467 (GRCm39) critical splice donor site probably null
PIT4651001:Ces1e UTSW 8 93,941,711 (GRCm39) missense probably benign 0.00
R0158:Ces1e UTSW 8 93,946,057 (GRCm39) missense probably benign 0.09
R0317:Ces1e UTSW 8 93,950,667 (GRCm39) missense probably benign 0.03
R0530:Ces1e UTSW 8 93,946,149 (GRCm39) splice site probably benign
R0626:Ces1e UTSW 8 93,950,671 (GRCm39) missense probably benign 0.01
R3013:Ces1e UTSW 8 93,929,915 (GRCm39) missense probably benign 0.26
R3815:Ces1e UTSW 8 93,928,467 (GRCm39) critical splice donor site probably null
R4810:Ces1e UTSW 8 93,935,259 (GRCm39) missense probably benign 0.00
R4883:Ces1e UTSW 8 93,950,716 (GRCm39) missense probably benign 0.07
R5155:Ces1e UTSW 8 93,928,034 (GRCm39) makesense probably null
R5262:Ces1e UTSW 8 93,950,586 (GRCm39) missense probably damaging 1.00
R5287:Ces1e UTSW 8 93,935,240 (GRCm39) missense probably benign 0.00
R5403:Ces1e UTSW 8 93,935,240 (GRCm39) missense probably benign 0.00
R5410:Ces1e UTSW 8 93,937,070 (GRCm39) missense possibly damaging 0.94
R5813:Ces1e UTSW 8 93,948,305 (GRCm39) nonsense probably null
R5891:Ces1e UTSW 8 93,929,894 (GRCm39) missense possibly damaging 0.93
R5966:Ces1e UTSW 8 93,946,001 (GRCm39) critical splice donor site probably null
R6199:Ces1e UTSW 8 93,944,163 (GRCm39) missense probably damaging 1.00
R6381:Ces1e UTSW 8 93,944,206 (GRCm39) missense probably damaging 1.00
R6620:Ces1e UTSW 8 93,950,546 (GRCm39) missense probably damaging 1.00
R6753:Ces1e UTSW 8 93,941,756 (GRCm39) missense probably damaging 0.96
R7180:Ces1e UTSW 8 93,941,772 (GRCm39) missense probably damaging 1.00
R7393:Ces1e UTSW 8 93,937,045 (GRCm39) missense probably benign 0.31
R7421:Ces1e UTSW 8 93,941,703 (GRCm39) missense probably benign 0.00
R8296:Ces1e UTSW 8 93,929,947 (GRCm39) missense probably benign 0.11
R8901:Ces1e UTSW 8 93,937,103 (GRCm39) missense probably damaging 1.00
R9766:Ces1e UTSW 8 93,946,031 (GRCm39) missense probably damaging 1.00
X0014:Ces1e UTSW 8 93,929,903 (GRCm39) missense probably damaging 1.00
Z1088:Ces1e UTSW 8 93,937,046 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16