Incidental Mutation 'IGL03227:Bche'
ID414130
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 #IGL03227
Quality Score
Status
Chromosome3
Chromosomal Location73635808-73708415 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 73701612 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 160 (K160N)
Ref Sequence ENSEMBL: ENSMUSP00000141329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029367] [ENSMUST00000138216]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029367
AA Change: K160N

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029367
Gene: ENSMUSG00000027792
AA Change: K160N

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: K160N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141329
Gene: ENSMUSG00000027792
AA Change: K160N

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 C T 1: 25,547,475 G172E probably damaging Het
Alas2 A G X: 150,557,266 K151E probably damaging Het
Apob A G 12: 8,016,089 T4353A probably benign Het
Arhgef1 C A 7: 24,922,851 D554E probably damaging Het
Atad2b T A 12: 5,006,715 L857Q probably damaging Het
Atp2b4 C A 1: 133,729,707 probably benign Het
Bmx A G X: 164,203,196 M537T probably damaging Het
Bysl T C 17: 47,611,092 N27S probably benign Het
Ccdc110 T A 8: 45,941,549 L159H probably damaging Het
Cd34 G A 1: 194,958,463 C212Y probably damaging Het
Erich2 C T 2: 70,512,770 probably benign Het
Fap T A 2: 62,530,763 probably null Het
Fitm2 T C 2: 163,469,532 T254A probably benign Het
Fscn3 T C 6: 28,434,430 S335P probably benign Het
Grk2 C T 19: 4,287,829 E508K probably benign Het
Lbr T C 1: 181,836,055 probably null Het
Lct A T 1: 128,327,689 F205L probably benign Het
Magi3 A T 3: 104,051,119 I550N probably benign Het
Med13 A G 11: 86,327,792 probably benign Het
Msh3 A T 13: 92,285,960 S563T probably damaging Het
Msra A G 14: 64,313,743 V50A probably benign Het
Olfr843 A G 9: 19,249,222 M59T probably damaging Het
Pcdhb13 T A 18: 37,443,658 V363E probably damaging Het
Piezo2 G A 18: 63,124,606 T347M probably damaging Het
Rapgef2 T C 3: 79,092,613 probably benign Het
Rtl9 A C X: 143,099,828 T79P probably benign Het
Slc15a2 A G 16: 36,756,048 probably null Het
Slc51a G A 16: 32,478,750 R110C probably damaging Het
Smurf1 G T 5: 144,899,182 P123H probably damaging Het
Strn4 A G 7: 16,837,714 T590A possibly damaging Het
Trpm6 T C 19: 18,786,779 Y250H probably benign Het
Trpm6 T C 19: 18,819,119 S780P probably benign Het
Zfp770 A T 2: 114,197,089 C166* 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
IGL03095:Bche APN 3 73701883 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