Incidental Mutation 'IGL03400:Ces3b'
ID421375
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: 0.060) question?
Stock #IGL03400
Quality Score
Status
Chromosome8
Chromosomal Location105083753-105093929 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105092936 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 495 (T495A)
Ref Sequence ENSEMBL: ENSMUSP00000090909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074403] [ENSMUST00000093221] [ENSMUST00000173088]
Predicted Effect probably benign
Transcript: ENSMUST00000074403
AA Change: T445A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000074004
Gene: ENSMUSG00000062181
AA Change: T445A

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 damaging
Transcript: ENSMUST00000093221
AA Change: T495A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090909
Gene: ENSMUSG00000062181
AA Change: T495A

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
SMART Domains Protein: ENSMUSP00000134204
Gene: ENSMUSG00000062181

DomainStartEndE-ValueType
Pfam:COesterase 1 114 2e-11 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Bmp3 T C 5: 98,872,098 S127P probably damaging Het
Ccdc84 A G 9: 44,413,189 V185A probably benign Het
Cemip A G 7: 83,958,516 S761P probably damaging Het
Cops3 A T 11: 59,818,088 D413E probably benign Het
Cyp4f16 A G 17: 32,550,353 I406V probably benign Het
Efcab6 A T 15: 83,867,045 probably benign Het
Emsy A G 7: 98,602,726 V703A possibly damaging Het
Fancb T C X: 164,995,591 S587P possibly damaging Het
Farp1 A G 14: 121,207,321 Y80C probably damaging Het
Fgf10 T C 13: 118,781,615 probably null Het
Fgf13 A G X: 59,125,888 probably benign Het
Filip1 T C 9: 79,820,473 K288R probably benign Het
L3mbtl3 T C 10: 26,315,526 N458S unknown Het
Nek11 C T 9: 105,204,866 A513T probably benign Het
Olfr1018 T C 2: 85,823,750 Y260H probably damaging Het
Olfr1320 T A X: 49,683,904 L134Q probably damaging Het
Olfr512 A C 7: 108,713,526 I46L probably benign Het
Palld G T 8: 61,513,455 A630E probably damaging Het
Pdk1 T C 2: 71,895,747 M333T probably benign Het
Rab9 T C X: 166,457,748 N189S probably benign Het
Shtn1 C T 19: 59,032,258 probably benign Het
Sntg1 T C 1: 8,463,414 I339V probably damaging Het
Spns3 A G 11: 72,499,675 V418A possibly damaging Het
St14 T A 9: 31,096,971 probably benign Het
Tedc2 T C 17: 24,219,803 D180G probably benign Het
Trim33 T C 3: 103,329,143 I523T probably damaging Het
Ttn T A 2: 76,720,864 M23068L probably benign Het
Ttn T C 2: 76,748,922 M15549V probably damaging Het
Tubgcp6 A G 15: 89,108,099 probably benign Het
Ube3c A G 5: 29,601,347 Y329C probably benign Het
Zmym4 G T 4: 126,923,127 D259E probably benign Het
Other mutations in Ces3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Ces3b APN 8 105091574 missense probably benign 0.00
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
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 not run
Posted On2016-08-02