Incidental Mutation 'R5966:Ces1e'
ID472104
Institutional Source Beutler Lab
Gene Symbol Ces1e
Ensembl Gene ENSMUSG00000061959
Gene Namecarboxylesterase 1E
SynonymsEs22, Eg, egasyn, Es-22
MMRRC Submission 044151-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5966 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location93201218-93229619 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 93219373 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034173] [ENSMUST00000176282] [ENSMUST00000176282]
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
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
Meta Mutation Damage Score 0.6092 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.5%
Validation Efficiency 94% (79/84)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830473C10Rik A G 5: 90,571,687 Y214C probably damaging Het
A930009A15Rik A T 10: 115,579,812 probably benign Het
Acaa2 T C 18: 74,804,152 L369S probably damaging Het
Akna A G 4: 63,394,903 S328P probably damaging Het
Apc A G 18: 34,221,087 probably benign Het
Brca2 C T 5: 150,543,251 T2160I probably damaging Het
Camsap2 A G 1: 136,276,592 S1251P probably damaging Het
Ccdc110 A G 8: 45,942,536 E488G probably damaging Het
Ccdc158 T A 5: 92,650,049 I411F probably damaging Het
Cd163 C T 6: 124,320,636 Q914* probably null Het
Cd22 T C 7: 30,866,658 D827G probably damaging Het
Col14a1 T C 15: 55,452,383 probably null Het
Csmd3 T A 15: 47,849,739 D1509V probably damaging Het
Ddx51 A G 5: 110,656,851 D543G probably damaging Het
Diaph3 T A 14: 86,984,825 I408F probably damaging Het
Dld G A 12: 31,340,326 P213L probably damaging Het
Dnah6 T C 6: 73,060,279 T3327A probably benign Het
Dnttip2 T A 3: 122,285,168 probably benign Het
Dock10 T C 1: 80,568,508 E791G possibly damaging Het
Ehd3 G T 17: 73,827,361 W238C probably damaging Het
Ehd3 T G 17: 73,827,366 L240R probably damaging Het
Ep400 A G 5: 110,676,900 V2357A unknown Het
Fam20c T C 5: 138,756,177 V181A probably damaging Het
Gm4781 T C 10: 100,396,952 noncoding transcript Het
Gpatch8 A T 11: 102,480,232 S827T unknown Het
Grm3 A T 5: 9,511,930 I640N probably damaging Het
Gstm7 A G 3: 107,931,431 probably benign Het
Hdac7 G T 15: 97,802,491 H572Q probably damaging Het
Ift140 C T 17: 25,094,761 Q1389* probably null Het
Igfn1 A G 1: 135,965,414 V2099A probably damaging Het
Ik A G 18: 36,755,478 N443S possibly damaging Het
Impact A G 18: 12,990,544 K315E probably benign Het
Insr C A 8: 3,258,697 R113L probably benign Het
Jak2 T A 19: 29,283,554 Y317N possibly damaging Het
Kif18a T A 2: 109,292,066 V162E probably damaging Het
L3mbtl3 A G 10: 26,331,864 V319A unknown Het
Lepr T C 4: 101,792,127 probably benign Het
Lmo7 C T 14: 101,900,502 T647I possibly damaging Het
Mindy3 C T 2: 12,401,043 R147Q probably benign Het
Mtr T C 13: 12,215,567 probably null Het
Muc4 A T 16: 32,756,278 probably benign Het
Nrip1 G A 16: 76,293,583 T362M possibly damaging Het
Olfr1175-ps A G 2: 88,322,878 S276P probably benign Het
Olfr346 G T 2: 36,688,062 R20L probably null Het
Olfr357 T C 2: 36,996,945 I45T possibly damaging Het
Ovol1 G A 19: 5,551,602 R131C probably damaging Het
Pcca T C 14: 122,668,586 V323A probably damaging Het
Pcdhb14 A T 18: 37,448,242 M134L probably benign Het
Pecam1 G A 11: 106,691,061 T252M probably benign Het
Rnd3 T A 2: 51,132,524 I169F probably damaging Het
Rnmt T A 18: 68,311,618 D219E probably benign Het
Rufy1 A T 11: 50,401,488 F491L probably benign Het
Ryr2 G T 13: 11,662,238 C3242* probably null Het
Smurf2 G T 11: 106,875,901 R31S possibly damaging Het
Sptbn1 A G 11: 30,124,873 I1333T probably damaging Het
Stard9 G A 2: 120,697,099 C1279Y probably damaging Het
Sugp2 T C 8: 70,252,103 probably null Het
Sulf1 A T 1: 12,859,412 D301V probably benign Het
Tbcd G T 11: 121,601,911 probably benign Het
Tlr11 T C 14: 50,362,255 I566T probably benign Het
Tm9sf2 T A 14: 122,137,509 probably benign Het
Tnfaip8l1 T C 17: 56,171,799 F30L probably benign Het
Trav15-2-dv6-2 T A 14: 53,649,976 C118S probably damaging Het
Ttc13 A G 8: 124,682,220 probably benign Het
Ubqln3 A T 7: 104,141,699 S395T probably benign Het
Urb2 A G 8: 124,028,088 D178G probably benign Het
Usf3 A G 16: 44,220,859 I1901V probably benign Het
Vmn1r173 A T 7: 23,702,687 I116F probably benign Het
Vmn1r69 T A 7: 10,580,790 T5S probably benign Het
Wbp1l C T 19: 46,654,180 R191* probably null Het
Wfikkn2 C T 11: 94,238,862 R151H probably damaging Het
Other mutations in Ces1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00900:Ces1e APN 8 93217617 missense probably damaging 0.98
IGL01358:Ces1e APN 8 93214150 missense probably damaging 0.99
IGL01597:Ces1e APN 8 93210373 missense probably benign 0.01
IGL01875:Ces1e APN 8 93223896 missense probably benign 0.03
IGL02244:Ces1e APN 8 93212349 splice site probably null
IGL03260:Ces1e APN 8 93223917 missense probably benign 0.00
IGL03302:Ces1e APN 8 93223893 critical splice donor site probably null
chaingun UTSW 8 93223958 missense probably damaging 1.00
chomper UTSW 8 93201839 critical splice donor site probably null
PIT4651001:Ces1e UTSW 8 93215083 missense probably benign 0.00
R0158:Ces1e UTSW 8 93219429 missense probably benign 0.09
R0317:Ces1e UTSW 8 93224039 missense probably benign 0.03
R0530:Ces1e UTSW 8 93219521 splice site probably benign
R0626:Ces1e UTSW 8 93224043 missense probably benign 0.01
R3013:Ces1e UTSW 8 93203287 missense probably benign 0.26
R3815:Ces1e UTSW 8 93201839 critical splice donor site probably null
R4810:Ces1e UTSW 8 93208631 missense probably benign 0.00
R4883:Ces1e UTSW 8 93224088 missense probably benign 0.07
R5155:Ces1e UTSW 8 93201406 makesense probably null
R5262:Ces1e UTSW 8 93223958 missense probably damaging 1.00
R5287:Ces1e UTSW 8 93208612 missense probably benign 0.00
R5403:Ces1e UTSW 8 93208612 missense probably benign 0.00
R5410:Ces1e UTSW 8 93210442 missense possibly damaging 0.94
R5813:Ces1e UTSW 8 93221677 nonsense probably null
R5891:Ces1e UTSW 8 93203266 missense possibly damaging 0.93
R6199:Ces1e UTSW 8 93217535 missense probably damaging 1.00
R6381:Ces1e UTSW 8 93217578 missense probably damaging 1.00
R6620:Ces1e UTSW 8 93223918 missense probably damaging 1.00
R6753:Ces1e UTSW 8 93215128 missense probably damaging 0.96
R7180:Ces1e UTSW 8 93215144 missense probably damaging 1.00
R7393:Ces1e UTSW 8 93210417 missense probably benign 0.31
R7421:Ces1e UTSW 8 93215075 missense probably benign 0.00
X0014:Ces1e UTSW 8 93203275 missense probably damaging 1.00
Z1088:Ces1e UTSW 8 93210418 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCTGCATCCTGAAGATTCCG -3'
(R):5'- CAGGGGAGCTTTCTGATGATC -3'

Sequencing Primer
(F):5'- TTGATCTCAATATGAGGGCCCAC -3'
(R):5'- CTGATGATCTGTGTTGCTGCATC -3'
Posted On2017-03-31