Mutagenetix > Incidental Mutation

Incidental Mutation 'R7965:Bche'

650307

Institutional Source

Beutler Lab

Gene Symbol

Bche

Ensembl Gene

ENSMUSG00000027792

Gene Name

butyrylcholinesterase

Synonyms

C730038G20Rik

MMRRC Submission

046008-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7965 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73543141-73615748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73609149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 92 (N92K)

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: N92K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029367
Gene: ENSMUSG00000027792
AA Change: N92K

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 damaging
Transcript: ENSMUST00000138216
AA Change: N92K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141329
Gene: ENSMUSG00000027792
AA Change: N92K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (45/45)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	A	G	18: 36,791,465 (GRCm39)	T154A		Het
Arhgap21	A	G	2: 20,854,007 (GRCm39)	I1795T	probably damaging	Het
Arhgef4	T	C	1: 34,850,762 (GRCm39)	V436A	probably benign	Het
Bmp2	C	T	2: 133,403,105 (GRCm39)	H219Y	probably benign	Het
Cables1	T	G	18: 11,973,269 (GRCm39)	V136G	probably benign	Het
Cacna1d	G	A	14: 29,769,270 (GRCm39)	R1887*	probably null	Het
Chrd	A	G	16: 20,557,903 (GRCm39)	E774G	probably benign	Het
Chrna2	A	G	14: 66,388,525 (GRCm39)	*513W	probably null	Het
Cracr2b	T	C	7: 141,044,161 (GRCm39)	F131S	probably damaging	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Cyfip1	T	A	7: 55,546,523 (GRCm39)	I545N	possibly damaging	Het
Enpp3	T	A	10: 24,654,717 (GRCm39)	T654S	possibly damaging	Het
Glce	A	G	9: 61,968,228 (GRCm39)	S308P	probably damaging	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Hmmr	A	C	11: 40,606,256 (GRCm39)		probably null	Het
Hoxb9	A	G	11: 96,165,464 (GRCm39)	N178D	probably benign	Het
Igkv10-94	A	T	6: 68,681,595 (GRCm39)	F82I	probably damaging	Het
Igkv1-133	A	T	6: 67,702,578 (GRCm39)	K99*	probably null	Het
Il4i1	A	G	7: 44,489,819 (GRCm39)	Q528R	probably benign	Het
Inhba	G	T	13: 16,201,572 (GRCm39)	G378V	possibly damaging	Het
Katna1	T	C	10: 7,614,623 (GRCm39)	S44P	probably benign	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Mgat4d	T	C	8: 84,084,722 (GRCm39)	V155A	possibly damaging	Het
Morc2b	C	T	17: 33,354,746 (GRCm39)	E1009K	possibly damaging	Het
Myo9a	T	A	9: 59,695,721 (GRCm39)	L341H	probably damaging	Het
Nell2	C	T	15: 95,129,216 (GRCm39)	D716N	probably damaging	Het
Or1n2	A	G	2: 36,796,953 (GRCm39)		probably benign	Het
Or5t16	A	G	2: 86,818,707 (GRCm39)	V271A	probably benign	Het
Or8g36	C	T	9: 39,422,810 (GRCm39)	V69I	probably benign	Het
Or8k30	A	G	2: 86,338,815 (GRCm39)	H4R	probably benign	Het
Ppp1r37	T	C	7: 19,265,868 (GRCm39)	T633A	probably damaging	Het
Prdm10	A	G	9: 31,258,302 (GRCm39)	K576E	probably damaging	Het
Prl2c5	G	T	13: 13,360,469 (GRCm39)	M45I	probably benign	Het
Rigi	C	A	4: 40,223,824 (GRCm39)	G397*	probably null	Het
Rnf44	A	G	13: 54,830,667 (GRCm39)	S247P	probably benign	Het
Scn3a	A	G	2: 65,336,555 (GRCm39)	F684L	probably damaging	Het
Skint2	T	A	4: 112,502,648 (GRCm39)	M286K	probably benign	Het
Slc39a9	G	A	12: 80,713,450 (GRCm39)	G116D	probably damaging	Het
Smchd1	G	A	17: 71,762,621 (GRCm39)	T206I	possibly damaging	Het
Tmem161a	C	T	8: 70,630,154 (GRCm39)		probably benign	Het
Trpm6	T	A	19: 18,853,474 (GRCm39)	H1831Q	probably damaging	Het
Trpm7	A	T	2: 126,667,614 (GRCm39)	H792Q	probably damaging	Het
Ttc6	A	G	12: 57,720,542 (GRCm39)	Q936R	possibly damaging	Het
Usp53	A	T	3: 122,756,531 (GRCm39)		probably null	Het
Vmn1r236	T	A	17: 21,507,696 (GRCm39)	C271*	probably null	Het
Vmn2r70	T	A	7: 85,211,071 (GRCm39)	M547L	probably damaging	Het
Vwa5b1	G	A	4: 138,332,800 (GRCm39)	T254M	probably damaging	Het
Zc3h4	T	C	7: 16,163,770 (GRCm39)	F655S	unknown	Het
Zfp605	G	A	5: 110,275,316 (GRCm39)	G145S	probably benign	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
R7275:Bche	UTSW	3	73,607,969 (GRCm39)	missense	probably benign	0.19
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
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'- GAAGAGGTCCCAGTTTGAAAGC -3'
(R):5'- CTCTGCATGCCTTTTGGGAAG -3'

Sequencing Primer
(F):5'- GTTTGAAAGCCACCACCATAG -3'
(R):5'- CCTTTTGGGAAGTCACACACTGAAG -3'

Posted On

2020-09-15