Mutagenetix > Incidental Mutations

Incidental Mutation 'R5363:Bche'

422918

Institutional Source

Beutler Lab

Gene Symbol

Bche

Ensembl Gene

ENSMUSG00000027792

Gene Name

butyrylcholinesterase

Synonyms

C730038G20Rik

MMRRC Submission

042941-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5363 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73635808-73708415 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73700639 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 485 (Y485H)

Ref Sequence

ENSEMBL: ENSMUSP00000029367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029367] [ENSMUST00000138216]

AlphaFold

Q03311

Predicted Effect

probably damaging
Transcript: ENSMUST00000029367
AA Change: Y485H

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029367
Gene: ENSMUSG00000027792
AA Change: Y485H

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000138216

SMART Domains

Protein: ENSMUSP00000141329
Gene: ENSMUSG00000027792

Domain	Start	End	E-Value	Type
Pfam:COesterase	10	174	6.9e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153917

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	G	T	2: 148,783,378	L77F	probably damaging	Het
Abca1	A	G	4: 53,132,963	I40T	probably benign	Het
Abca13	T	C	11: 9,277,035	V597A	possibly damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Anapc1	A	G	2: 128,650,194		probably null	Het
Ap4e1	G	A	2: 127,037,864		probably null	Het
Apod	T	C	16: 31,311,091	T16A	probably benign	Het
Arrdc5	C	T	17: 56,300,138	V36M	probably damaging	Het
Bcan	A	G	3: 87,995,487	V328A	probably damaging	Het
Btbd6	A	G	12: 112,978,136	Y356C	probably damaging	Het
Cdh4	A	G	2: 179,886,763	T555A	probably benign	Het
Ciita	C	T	16: 10,512,167	H769Y	probably damaging	Het
Clspn	A	G	4: 126,561,786	D35G	possibly damaging	Het
Cpsf3	T	A	12: 21,308,985	M562K	probably benign	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,929,459		probably null	Het
Cyp2a22	T	A	7: 26,936,433	Q235L	probably damaging	Het
Dicer1	A	G	12: 104,703,151	S1091P	probably damaging	Het
Dync1li1	T	A	9: 114,715,229	I323N	probably damaging	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fat4	A	G	3: 38,888,005	N349S	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Hectd4	T	C	5: 121,310,603	M338T	probably benign	Het
Lactb2	A	T	1: 13,630,132	I225N	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mrps30	A	G	13: 118,387,162	S25P	probably benign	Het
Myg1	T	C	15: 102,337,824	V378A	probably benign	Het
Notch4	C	T	17: 34,587,123	T1731I	probably damaging	Het
Ntmt1	A	G	2: 30,820,648	D121G	probably damaging	Het
Olfr1167	A	T	2: 88,149,802	D72E	probably damaging	Het
Olfr763	C	A	10: 129,011,914	P210T	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pclo	A	G	5: 14,669,410	D1187G	unknown	Het
Pkd1	T	A	17: 24,565,073	Y198N	probably benign	Het
Plk4	T	A	3: 40,801,984	N83K	possibly damaging	Het
Prune2	A	T	19: 17,118,266	Q378L	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa1	G	T	13: 85,288,555	T118K	possibly damaging	Het
Rin3	G	A	12: 102,325,834	V97M	probably damaging	Het
Rock2	T	C	12: 16,965,654		probably null	Het
Slc34a1	A	G	13: 55,403,268	I289V	probably benign	Het
Slc34a1	T	C	13: 55,412,290	L443P	probably damaging	Het
Slco2a1	A	T	9: 103,070,263	I254F	probably damaging	Het
Spink11	T	C	18: 44,195,686	I32V	probably benign	Het
Spire1	T	C	18: 67,506,555	E296G	probably damaging	Het
Sun1	A	G	5: 139,234,743	N410D	probably damaging	Het
Syt14	T	A	1: 192,930,663	T610S	possibly damaging	Het
Tenm3	T	C	8: 48,287,831	I1206V	possibly damaging	Het
Tet3	A	T	6: 83,376,764		probably null	Het
Thbs1	A	T	2: 118,122,666	Q919L	probably damaging	Het
Trappc10	A	G	10: 78,188,840	F1152L	possibly damaging	Het
Trp63	C	A	16: 25,863,718	N176K	probably damaging	Het
Zbtb17	A	G	4: 141,466,761	E700G	probably benign	Het
Zfp446	G	A	7: 12,978,057	R69H	probably benign	Het
Zfy2	C	T	Y: 2,106,555	C693Y	possibly damaging	Het
Zxdc	A	G	6: 90,382,146	T587A	probably damaging	Het
Zyg11a	A	G	4: 108,189,622	C552R	probably damaging	Het

Other mutations in Bche

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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
R8878:Bche	UTSW	3	73701173	missense	probably benign
R8944:Bche	UTSW	3	73700675	missense	probably damaging	1.00
R8947:Bche	UTSW	3	73701428	missense	probably damaging	0.97
R8964:Bche	UTSW	3	73701073	missense	probably benign	0.00
R9402:Bche	UTSW	3	73701323	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GAGCTAAAATTCACCACATTGTGAG -3'
(R):5'- ACATCATCTGCCCTGCACTG -3'

Sequencing Primer
(F):5'- TTCACCACATTGTGAGACAAAAAGG -3'
(R):5'- CCTGCACTGGAGTTTACCAAG -3'

Posted On

2016-08-04