Mutagenetix > Incidental Mutation

Incidental Mutation 'R7275:Bche'

565501

Institutional Source

Beutler Lab

Gene Symbol

Bche

Ensembl Gene

ENSMUSG00000027792

Gene Name

butyrylcholinesterase

Synonyms

C730038G20Rik

MMRRC Submission

045358-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73543141-73615748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73607969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 486 (T486S)

Ref Sequence

ENSEMBL: ENSMUSP00000029367 (fasta)

Gene Model

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

AlphaFold

Q03311

Predicted Effect

probably benign
Transcript: ENSMUST00000029367
AA Change: T486S

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000029367
Gene: ENSMUSG00000027792
AA Change: T486S

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

probably benign
Transcript: ENSMUST00000138216

SMART Domains

Protein: ENSMUSP00000141329
Gene: ENSMUSG00000027792

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (64/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	T	A	12: 72,956,795 (GRCm39)	T132S	possibly damaging	Het
4933412E24Rik	A	G	15: 59,887,738 (GRCm39)	V234A	probably benign	Het
Abtb3	T	A	10: 85,490,346 (GRCm39)	L1004Q	probably damaging	Het
Acsm5	A	G	7: 119,136,511 (GRCm39)	T361A	possibly damaging	Het
Agxt2	G	A	15: 10,358,753 (GRCm39)	R24H	probably benign	Het
Asb16	G	T	11: 102,159,935 (GRCm39)	W96L	probably damaging	Het
Bpnt2	C	A	4: 4,792,962 (GRCm39)	G48W	probably damaging	Het
Cast	T	C	13: 74,875,453 (GRCm39)	T382A	probably benign	Het
Cdcp1	T	A	9: 123,014,119 (GRCm39)	K218N	possibly damaging	Het
Ceacam18	G	A	7: 43,291,308 (GRCm39)	G250D	probably damaging	Het
Ciao3	T	A	17: 25,994,108 (GRCm39)	V52E	possibly damaging	Het
Ctnnd2	T	C	15: 30,905,855 (GRCm39)	I834T	possibly damaging	Het
Cyp11b2	C	A	15: 74,725,840 (GRCm39)	G136W	probably damaging	Het
Dis3	A	G	14: 99,324,925 (GRCm39)	V502A	probably damaging	Het
Dnai2	T	A	11: 114,648,054 (GRCm39)	M610K	unknown	Het
Drosha	G	A	15: 12,846,169 (GRCm39)	V435I	possibly damaging	Het
Dsc2	T	A	18: 20,184,236 (GRCm39)	R51*	probably null	Het
Ergic2	A	T	6: 148,096,757 (GRCm39)	C170S	probably damaging	Het
Exoc7	A	T	11: 116,195,688 (GRCm39)		probably null	Het
Fbxw25	G	T	9: 109,483,660 (GRCm39)	A184E		Het
Gm4846	T	A	1: 166,314,648 (GRCm39)	T332S	probably benign	Het
Greb1l	T	A	18: 10,544,561 (GRCm39)	M1385K	probably benign	Het
Grik1	T	C	16: 87,709,708 (GRCm39)	N871S	probably benign	Het
Il11ra1	T	C	4: 41,765,109 (GRCm39)	L145P	probably damaging	Het
Inpp5e	A	G	2: 26,298,104 (GRCm39)	S166P	probably benign	Het
Kdm4b	T	A	17: 56,703,333 (GRCm39)	L676H	probably damaging	Het
Lrp2	T	A	2: 69,289,875 (GRCm39)	K3655*	probably null	Het
Lrrc74a	A	G	12: 86,787,753 (GRCm39)	N128S	probably damaging	Het
Map3k14	T	C	11: 103,117,848 (GRCm39)	E648G	probably damaging	Het
Mbtps1	A	T	8: 120,269,489 (GRCm39)	D200E	probably benign	Het
Mttp	T	C	3: 137,829,546 (GRCm39)	D114G	probably benign	Het
Mup13	G	A	4: 61,182,752 (GRCm39)	T101M	probably benign	Het
Neb	T	A	2: 52,096,956 (GRCm39)	T4953S	probably benign	Het
Nfasc	A	C	1: 132,562,001 (GRCm39)	L147R	probably damaging	Het
Obox6	T	C	7: 15,567,805 (GRCm39)	E214G	probably benign	Het
Opn3	T	C	1: 175,493,039 (GRCm39)	N175S	probably damaging	Het
Or1j12	A	T	2: 36,342,851 (GRCm39)	M85L	probably benign	Het
Or8g22	T	A	9: 38,958,815 (GRCm39)		probably benign	Het
Or8k22	C	A	2: 86,163,136 (GRCm39)	C188F	possibly damaging	Het
Osbpl3	G	T	6: 50,323,410 (GRCm39)	D224E	probably benign	Het
Osr2	A	G	15: 35,301,032 (GRCm39)	D196G	probably damaging	Het
Pde8b	T	A	13: 95,179,442 (GRCm39)	N405Y	probably damaging	Het
Pirb	A	G	7: 3,719,177 (GRCm39)	S571P	probably benign	Het
Psmc3	T	A	2: 90,886,275 (GRCm39)	I163N	probably damaging	Het
Rapgef4	A	G	2: 72,038,445 (GRCm39)	D532G	probably damaging	Het
Retreg1	A	G	15: 25,971,684 (GRCm39)	D208G	probably benign	Het
Rgsl1	T	G	1: 153,679,876 (GRCm39)		probably null	Het
Ripk4	T	C	16: 97,545,157 (GRCm39)	T497A	probably benign	Het
Slc30a2	T	A	4: 134,076,581 (GRCm39)		probably null	Het
Slc6a19	T	C	13: 73,834,197 (GRCm39)	D335G	probably benign	Het
Slco4c1	G	A	1: 96,799,497 (GRCm39)	T113M	probably benign	Het
Speer1c	T	C	5: 10,295,192 (GRCm39)	N71D		Het
Stxbp6	A	G	12: 44,948,786 (GRCm39)	F108L	probably benign	Het
Sulf1	T	A	1: 12,921,189 (GRCm39)		probably null	Het
Syt16	C	T	12: 74,313,483 (GRCm39)	R470C	probably damaging	Het
Tbc1d19	T	A	5: 54,029,618 (GRCm39)	D326E	probably damaging	Het
Trappc14	T	C	5: 138,261,839 (GRCm39)	S86G	probably benign	Het
Trgv3	A	G	13: 19,427,188 (GRCm39)	T24A	probably benign	Het
Trpm3	T	A	19: 22,956,048 (GRCm39)	M1170K	possibly damaging	Het
Tubgcp6	G	A	15: 88,987,146 (GRCm39)	Q1276*	probably null	Het
Tyrp1	A	G	4: 80,755,821 (GRCm39)	K197E	possibly damaging	Het
Ube3d	T	C	9: 86,322,679 (GRCm39)	D165G	probably damaging	Het
Zfp212	A	G	6: 47,897,678 (GRCm39)	T7A	probably benign	Het
Zhx1	T	C	15: 57,917,758 (GRCm39)	T163A	probably benign	Het
Zp2	A	T	7: 119,734,576 (GRCm39)		probably null	Het

Other mutations in Bche

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Bche	APN	3	73,608,640 (GRCm39)	missense	probably benign	0.00
IGL01420:Bche	APN	3	73,609,342 (GRCm39)	missense	probably benign	0.03
IGL02433:Bche	APN	3	73,609,262 (GRCm39)	missense	probably benign	0.02
IGL02734:Bche	APN	3	73,609,409 (GRCm39)	missense	probably benign	0.09
IGL03095:Bche	APN	3	73,609,216 (GRCm39)	missense	probably damaging	1.00
IGL03227:Bche	APN	3	73,608,945 (GRCm39)	missense	probably damaging	1.00
R0056:Bche	UTSW	3	73,608,654 (GRCm39)	missense	possibly damaging	0.79
R1780:Bche	UTSW	3	73,607,953 (GRCm39)	missense	probably benign	0.00
R1984:Bche	UTSW	3	73,609,160 (GRCm39)	missense	probably benign
R1984:Bche	UTSW	3	73,609,159 (GRCm39)	missense	probably benign	0.03
R2403:Bche	UTSW	3	73,608,805 (GRCm39)	missense	probably damaging	0.96
R4989:Bche	UTSW	3	73,609,177 (GRCm39)	missense	probably benign	0.02
R5231:Bche	UTSW	3	73,608,194 (GRCm39)	missense	probably benign	0.07
R5363:Bche	UTSW	3	73,607,972 (GRCm39)	missense	probably damaging	0.98
R5987:Bche	UTSW	3	73,556,011 (GRCm39)	missense	possibly damaging	0.59
R6164:Bche	UTSW	3	73,608,389 (GRCm39)	missense	possibly damaging	0.63
R6381:Bche	UTSW	3	73,609,132 (GRCm39)	missense	probably benign	0.00
R6571:Bche	UTSW	3	73,608,824 (GRCm39)	missense	probably benign	0.08
R6801:Bche	UTSW	3	73,609,133 (GRCm39)	missense	probably benign
R6935:Bche	UTSW	3	73,609,133 (GRCm39)	missense	probably benign
R7499:Bche	UTSW	3	73,609,231 (GRCm39)	missense	probably damaging	1.00
R7543:Bche	UTSW	3	73,609,066 (GRCm39)	missense	probably damaging	1.00
R7757:Bche	UTSW	3	73,608,454 (GRCm39)	missense	probably damaging	1.00
R7965:Bche	UTSW	3	73,609,149 (GRCm39)	missense	probably damaging	0.98
R8878:Bche	UTSW	3	73,608,506 (GRCm39)	missense	probably benign
R8944:Bche	UTSW	3	73,608,008 (GRCm39)	missense	probably damaging	1.00
R8947:Bche	UTSW	3	73,608,761 (GRCm39)	missense	probably damaging	0.97
R8964:Bche	UTSW	3	73,608,406 (GRCm39)	missense	probably benign	0.00
R9402:Bche	UTSW	3	73,608,656 (GRCm39)	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

2019-06-26