Incidental Mutation 'IGL01069:Ces3b'
ID51719
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ces3b
Ensembl Gene ENSMUSG00000062181
Gene Namecarboxylesterase 3B
SynonymsES31L, Gm4738
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL01069
Quality Score
Status
Chromosome8
Chromosomal Location105083753-105093929 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 105091574 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 92 (S92P)
Ref Sequence ENSEMBL: ENSMUSP00000134204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074403] [ENSMUST00000093221] [ENSMUST00000173088]
Predicted Effect probably benign
Transcript: ENSMUST00000074403
AA Change: S403P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000074004
Gene: ENSMUSG00000062181
AA Change: S403P

DomainStartEndE-ValueType
Pfam:COesterase 13 436 1.8e-127 PFAM
Pfam:Abhydrolase_3 147 303 2.8e-13 PFAM
Pfam:COesterase 423 497 5.8e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093221
AA Change: S403P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000090909
Gene: ENSMUSG00000062181
AA Change: S403P

DomainStartEndE-ValueType
Pfam:COesterase 13 547 9.5e-163 PFAM
Pfam:Abhydrolase_3 147 304 2.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173088
AA Change: S92P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000134204
Gene: ENSMUSG00000062181
AA Change: S92P

DomainStartEndE-ValueType
Pfam:COesterase 1 114 2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173838
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
1700123K08Rik C T 5: 138,562,489 A215T probably benign Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Apc2 G A 10: 80,311,986 C929Y probably damaging Het
Arap2 T C 5: 62,649,856 H1156R probably benign Het
Arhgap9 A G 10: 127,328,952 T582A probably damaging Het
Ccdc57 T A 11: 120,861,259 H832L probably benign Het
Ces5a A G 8: 93,525,544 probably null Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cpb2 T A 14: 75,270,775 D225E probably damaging Het
Cpne8 C T 15: 90,615,110 probably null Het
Cux2 G A 5: 121,867,351 T924M possibly damaging Het
Dtl T A 1: 191,561,539 probably null Het
Dysf T A 6: 84,199,785 I1912N possibly damaging Het
Edc4 T A 8: 105,887,134 F369I probably benign Het
Fibcd1 T C 2: 31,821,519 E298G probably benign Het
Focad C A 4: 88,326,146 H788N unknown Het
Frem1 C T 4: 83,013,867 R199H probably benign Het
Gadl1 T C 9: 115,954,839 probably null Het
Hipk1 G A 3: 103,777,699 T200I possibly damaging Het
Ighv14-2 C T 12: 113,994,759 V21I possibly damaging Het
Kank4 A T 4: 98,778,395 I605N probably damaging Het
Krt88 T G 15: 101,453,627 *172G probably null Het
Lmf2 C A 15: 89,352,888 A408S probably benign Het
Lsm12 T C 11: 102,164,070 probably benign Het
Myo3b A G 2: 70,245,391 I580V probably benign Het
Myt1 T C 2: 181,825,956 M1061T probably damaging Het
Nup133 G A 8: 123,930,982 R405* probably null Het
Olfr1032 A G 2: 86,008,547 Y257C probably damaging Het
Olfr1377 A T 11: 50,985,003 I101F possibly damaging Het
Olfr229 A T 9: 39,910,606 M268L possibly damaging Het
Pcnx A G 12: 81,918,144 R362G probably benign Het
Pomt2 G T 12: 87,110,304 T747K probably damaging Het
Rgma G A 7: 73,417,491 A165T probably damaging Het
Rhbdf2 T C 11: 116,601,751 D437G possibly damaging Het
Rpl5 T C 5: 107,907,279 probably null Het
Rtkn2 A G 10: 68,041,664 D518G probably benign Het
Sclt1 T C 3: 41,741,991 probably benign Het
Sidt2 C T 9: 45,943,077 V616I possibly damaging Het
Ska2 A G 11: 87,109,265 probably benign Het
Slc13a4 C A 6: 35,268,882 L609F probably damaging Het
Sorbs3 T C 14: 70,191,155 E390G probably damaging Het
Syt15 T C 14: 34,224,924 V220A possibly damaging Het
Tob1 T C 11: 94,214,055 F139S probably damaging Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Other mutations in Ces3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Ces3b APN 8 105093252 missense probably damaging 0.99
IGL02418:Ces3b APN 8 105085647 missense probably damaging 1.00
IGL02612:Ces3b APN 8 105085269 missense possibly damaging 0.83
IGL03400:Ces3b APN 8 105092936 missense probably damaging 1.00
R0244:Ces3b UTSW 8 105092635 missense probably damaging 1.00
R0282:Ces3b UTSW 8 105083851 missense probably benign 0.00
R0800:Ces3b UTSW 8 105085269 missense possibly damaging 0.83
R1833:Ces3b UTSW 8 105085639 missense probably damaging 0.98
R2130:Ces3b UTSW 8 105092975 critical splice donor site probably null
R3790:Ces3b UTSW 8 105086888 missense possibly damaging 0.50
R4827:Ces3b UTSW 8 105086895 missense probably benign 0.12
R5411:Ces3b UTSW 8 105088632 missense possibly damaging 0.94
R5790:Ces3b UTSW 8 105092638 missense probably damaging 1.00
R5798:Ces3b UTSW 8 105088440 missense probably damaging 1.00
R5929:Ces3b UTSW 8 105093165 missense probably damaging 1.00
R6437:Ces3b UTSW 8 105092606 missense probably damaging 1.00
R6470:Ces3b UTSW 8 105088653 missense possibly damaging 0.87
R6943:Ces3b UTSW 8 105093078 missense probably damaging 1.00
R7828:Ces3b UTSW 8 105086596 missense probably damaging 1.00
R7856:Ces3b UTSW 8 105093262 makesense probably null
R7939:Ces3b UTSW 8 105093262 makesense probably null
Z1177:Ces3b UTSW 8 105085083 missense probably damaging 0.99
Posted On2013-06-21