Incidental Mutation 'IGL03095:Bche'
ID418528
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bche
Ensembl Gene ENSMUSG00000027792
Gene Namebutyrylcholinesterase
SynonymsC730038G20Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03095
Quality Score
Status
Chromosome3
Chromosomal Location73635808-73708415 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 73701883 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 70 (L70P)
Ref Sequence ENSEMBL: ENSMUSP00000141329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029367] [ENSMUST00000138216]
Predicted Effect probably damaging
Transcript: ENSMUST00000029367
AA Change: L70P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029367
Gene: ENSMUSG00000027792
AA Change: L70P

DomainStartEndE-ValueType
Pfam:COesterase 10 551 5.2e-183 PFAM
Pfam:Abhydrolase_3 139 242 1.9e-7 PFAM
Pfam:AChE_tetra 566 602 8.6e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133690
Predicted Effect probably damaging
Transcript: ENSMUST00000138216
AA Change: L70P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141329
Gene: ENSMUSG00000027792
AA Change: L70P

DomainStartEndE-ValueType
Pfam:COesterase 10 174 6.9e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153917
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a targeted null mutation do not exhibit any overt abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1h C A 17: 25,383,778 probably benign Het
Ccdc60 A T 5: 116,146,215 probably benign Het
Cep152 T C 2: 125,618,451 N194D probably benign Het
Chodl T A 16: 78,941,433 D96E probably damaging Het
Clca3b C A 3: 144,846,910 G122* probably null Het
Crybg1 T C 10: 43,989,249 I1411V probably damaging Het
Dock9 A C 14: 121,639,528 V477G probably damaging Het
Fam149a T A 8: 45,341,228 E632D probably damaging Het
Gabra4 A G 5: 71,624,015 V351A probably damaging Het
Gen1 T A 12: 11,248,264 I319L probably benign Het
Gne C A 4: 44,055,211 D255Y probably damaging Het
Gpr146 A G 5: 139,392,950 H169R probably benign Het
Htatip2 A G 7: 49,759,774 E92G probably benign Het
Ipcef1 A G 10: 6,919,732 S223P probably damaging Het
Kcnmb2 T A 3: 32,198,127 *37R probably null Het
Lin54 A T 5: 100,454,478 V400E probably damaging Het
Ltbp1 C A 17: 75,282,418 Q511K possibly damaging Het
Lyg1 A G 1: 37,950,768 probably benign Het
Nampt T A 12: 32,842,686 V324D possibly damaging Het
Nat8b-ps T G 6: 85,932,968 probably benign Het
Neb G A 2: 52,169,088 H213Y probably damaging Het
Nfkb1 T C 3: 135,618,830 E179G possibly damaging Het
Nlrc5 T A 8: 94,521,908 probably benign Het
Olfr102 T A 17: 37,313,773 I204F probably benign Het
Olfr1085 A T 2: 86,658,431 L9Q possibly damaging Het
Pcdh15 G A 10: 74,355,874 V601M probably damaging Het
Pigc G A 1: 161,970,776 R109Q possibly damaging Het
Plxna2 A G 1: 194,801,127 N1582S probably damaging Het
Pros1 C T 16: 62,907,769 Q279* probably null Het
Psmb5 A G 14: 54,616,557 S155P probably damaging Het
Rock2 T A 12: 16,953,340 D393E probably benign Het
Slc25a21 T C 12: 56,738,625 T156A probably benign Het
Slc44a1 T A 4: 53,536,374 Y183* probably null Het
Sytl2 C T 7: 90,392,434 P580L probably damaging Het
Tktl2 G T 8: 66,512,284 V165F probably damaging Het
Trim55 A G 3: 19,674,465 E480G probably benign Het
Vmn2r92 T A 17: 18,166,710 S104T possibly damaging Het
Vps51 C T 19: 6,070,048 R490H probably damaging Het
Wdr43 G A 17: 71,641,287 V391I probably benign Het
Zranb1 T G 7: 132,949,906 Y121* probably null Het
Other mutations in Bche
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Bche APN 3 73701307 missense probably benign 0.00
IGL01420:Bche APN 3 73702009 missense probably benign 0.03
IGL02433:Bche APN 3 73701929 missense probably benign 0.02
IGL02734:Bche APN 3 73702076 missense probably benign 0.09
IGL03227:Bche APN 3 73701612 missense probably damaging 1.00
R0056:Bche UTSW 3 73701321 missense possibly damaging 0.79
R1780:Bche UTSW 3 73700620 missense probably benign 0.00
R1984:Bche UTSW 3 73701826 missense probably benign 0.03
R1984:Bche UTSW 3 73701827 missense probably benign
R2403:Bche UTSW 3 73701472 missense probably damaging 0.96
R4989:Bche UTSW 3 73701844 missense probably benign 0.02
R5231:Bche UTSW 3 73700861 missense probably benign 0.07
R5363:Bche UTSW 3 73700639 missense probably damaging 0.98
R5987:Bche UTSW 3 73648678 missense possibly damaging 0.59
R6164:Bche UTSW 3 73701056 missense possibly damaging 0.63
R6381:Bche UTSW 3 73701799 missense probably benign 0.00
R6571:Bche UTSW 3 73701491 missense probably benign 0.08
R6801:Bche UTSW 3 73701800 missense probably benign
R6935:Bche UTSW 3 73701800 missense probably benign
R7275:Bche UTSW 3 73700636 missense probably benign 0.19
R7499:Bche UTSW 3 73701898 missense probably damaging 1.00
R7543:Bche UTSW 3 73701733 missense probably damaging 1.00
R7757:Bche UTSW 3 73701121 missense probably damaging 1.00
R7965:Bche UTSW 3 73701816 missense probably damaging 0.98
Posted On2016-08-02