Mutagenetix > Incidental Mutation

Incidental Mutation 'R4024:Bhmt2'

313418

Institutional Source

Beutler Lab

Gene Symbol

Bhmt2

Ensembl Gene

ENSMUSG00000042118

Gene Name

betaine-homocysteine methyltransferase 2

Synonyms

C81077, D13Ucla2

MMRRC Submission

041612-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R4024 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93792605-93810810 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 93799839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000015941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015941]

AlphaFold

Q91WS4

Predicted Effect

probably benign
Transcript: ENSMUST00000015941

SMART Domains

Protein: ENSMUSP00000015941
Gene: ENSMUSG00000042118

Domain	Start	End	E-Value	Type
Pfam:S-methyl_trans	23	305	3.9e-44	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,215,251 (GRCm39)	Y842H	probably damaging	Het
Adamts9	A	G	6: 92,849,765 (GRCm39)		probably benign	Het
Adgrg7	A	T	16: 56,550,661 (GRCm39)	Y684N	probably damaging	Het
Aoc1	A	T	6: 48,885,203 (GRCm39)	N646I	probably damaging	Het
Armc2	A	G	10: 41,869,054 (GRCm39)	S37P	probably benign	Het
Bpifb1	A	T	2: 154,054,966 (GRCm39)	D286V	probably damaging	Het
Cadps	T	A	14: 12,705,539 (GRCm38)	E285D	probably damaging	Het
Cap2	C	T	13: 46,791,317 (GRCm39)		probably benign	Het
Clcn4	T	G	7: 7,293,427 (GRCm39)	Y443S	probably damaging	Het
Clcn6	T	A	4: 148,098,740 (GRCm39)	T463S	possibly damaging	Het
Cmip	A	G	8: 118,174,155 (GRCm39)	I412V	possibly damaging	Het
Cndp1	T	C	18: 84,646,938 (GRCm39)	D250G	probably damaging	Het
Colec10	A	G	15: 54,325,947 (GRCm39)	D259G	probably damaging	Het
Ctnna2	A	T	6: 77,613,827 (GRCm39)	D254E	possibly damaging	Het
Dlec1	T	C	9: 118,966,408 (GRCm39)	Y1126H	probably damaging	Het
Dzank1	T	C	2: 144,324,147 (GRCm39)	S565G	probably benign	Het
Eef2k	A	G	7: 120,457,821 (GRCm39)	Y60C	probably benign	Het
Fbxl4	T	C	4: 22,377,074 (GRCm39)	V170A	possibly damaging	Het
Foxk2	T	A	11: 121,176,439 (GRCm39)	I195N	possibly damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gpr6	G	A	10: 40,947,264 (GRCm39)	T106M	probably damaging	Het
Grk3	T	A	5: 113,062,850 (GRCm39)	N666Y	possibly damaging	Het
Hnmt	T	C	2: 23,893,777 (GRCm39)	D239G	probably benign	Het
Igf2	A	G	7: 142,208,044 (GRCm39)	V111A	probably benign	Het
Lrriq3	G	A	3: 154,893,939 (GRCm39)	E547K	probably benign	Het
Lrriq4	T	C	3: 30,704,422 (GRCm39)	V150A	possibly damaging	Het
Mroh8	A	G	2: 157,098,272 (GRCm39)	V292A	probably benign	Het
Myo1e	A	G	9: 70,232,157 (GRCm39)	I229V	probably benign	Het
Nisch	A	G	14: 30,898,776 (GRCm39)		probably benign	Het
Nkx2-2	T	C	2: 147,026,154 (GRCm39)	T195A	probably benign	Het
Or10aa3	C	T	1: 173,878,683 (GRCm39)	T248I	probably benign	Het
Or2t47	G	A	11: 58,442,222 (GRCm39)	T281I	possibly damaging	Het
Or5p63	A	T	7: 107,810,949 (GRCm39)	Y262*	probably null	Het
Or8w1	T	A	2: 87,465,499 (GRCm39)	L197F	probably damaging	Het
Plekhn1	A	G	4: 156,309,207 (GRCm39)	V233A	probably damaging	Het
Ppp3r1	T	C	11: 17,144,786 (GRCm39)	V133A	probably damaging	Het
Sash1	T	C	10: 8,605,681 (GRCm39)	D903G	probably benign	Het
Scn8a	A	G	15: 100,937,674 (GRCm39)	D1681G	probably damaging	Het
Slk	A	G	19: 47,610,809 (GRCm39)		probably null	Het
Tasor2	T	C	13: 3,634,554 (GRCm39)	D751G	probably damaging	Het
Tlr11	C	T	14: 50,600,303 (GRCm39)	T763I	probably benign	Het
Ttbk2	T	C	2: 120,590,736 (GRCm39)	T308A	possibly damaging	Het
Tyk2	G	A	9: 21,027,215 (GRCm39)	L552F	probably damaging	Het
Ubp1	A	G	9: 113,773,951 (GRCm39)	D50G	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ulk4	A	T	9: 120,873,915 (GRCm39)	I1172N	possibly damaging	Het
Usf3	T	A	16: 44,036,528 (GRCm39)	V336E	possibly damaging	Het
Vangl2	T	C	1: 171,835,608 (GRCm39)	S355G	probably benign	Het
Vmn1r216	A	G	13: 23,284,061 (GRCm39)	D248G	probably damaging	Het
Vmn1r34	T	A	6: 66,614,688 (GRCm39)	M17L	probably benign	Het
Vmn2r120	T	A	17: 57,843,718 (GRCm39)	D42V	possibly damaging	Het
Vmn2r6	A	T	3: 64,445,671 (GRCm39)	S685T	possibly damaging	Het
Vsig10l	T	C	7: 43,117,510 (GRCm39)	V701A	probably benign	Het
Wdfy3	A	G	5: 102,071,961 (GRCm39)		probably benign	Het
Zfp808	T	A	13: 62,319,544 (GRCm39)	C258S	possibly damaging	Het
Zfp988	A	C	4: 147,417,242 (GRCm39)	K559Q	probably benign	Het

Other mutations in Bhmt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Bhmt2	APN	13	93,803,279 (GRCm39)	splice site	probably benign
IGL01665:Bhmt2	APN	13	93,799,661 (GRCm39)	nonsense	probably null
IGL02059:Bhmt2	APN	13	93,803,171 (GRCm39)	missense	probably benign
IGL02239:Bhmt2	APN	13	93,799,687 (GRCm39)	missense	probably benign	0.00
IGL02267:Bhmt2	APN	13	93,805,854 (GRCm39)	missense	probably damaging	1.00
IGL03148:Bhmt2	APN	13	93,803,161 (GRCm39)	missense	possibly damaging	0.48
R1171:Bhmt2	UTSW	13	93,798,837 (GRCm39)	missense	probably benign	0.00
R1517:Bhmt2	UTSW	13	93,798,847 (GRCm39)	missense	probably damaging	0.97
R1886:Bhmt2	UTSW	13	93,798,998 (GRCm39)	missense	probably benign	0.02
R2167:Bhmt2	UTSW	13	93,799,012 (GRCm39)	missense	probably benign	0.29
R4823:Bhmt2	UTSW	13	93,799,798 (GRCm39)	missense	probably benign
R5273:Bhmt2	UTSW	13	93,803,086 (GRCm39)	missense	possibly damaging	0.84
R5333:Bhmt2	UTSW	13	93,807,938 (GRCm39)	missense	probably benign	0.00
R5738:Bhmt2	UTSW	13	93,799,798 (GRCm39)	missense	probably benign
R5955:Bhmt2	UTSW	13	93,799,705 (GRCm39)	missense	probably benign	0.00
R6281:Bhmt2	UTSW	13	93,799,668 (GRCm39)	missense	probably damaging	1.00
R6858:Bhmt2	UTSW	13	93,807,948 (GRCm39)	missense	probably damaging	0.97
R6934:Bhmt2	UTSW	13	93,798,819 (GRCm39)	missense	probably benign	0.18
R6985:Bhmt2	UTSW	13	93,799,830 (GRCm39)	missense	possibly damaging	0.64
R7185:Bhmt2	UTSW	13	93,799,779 (GRCm39)	missense	probably benign	0.22
R7639:Bhmt2	UTSW	13	93,799,822 (GRCm39)	missense	probably damaging	1.00
R8412:Bhmt2	UTSW	13	93,798,820 (GRCm39)	missense	possibly damaging	0.49
R9224:Bhmt2	UTSW	13	93,805,854 (GRCm39)	missense	probably damaging	1.00
R9479:Bhmt2	UTSW	13	93,799,833 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TACTCTGGGAGGTCCACAAAC -3'
(R):5'- TAACCGCTAAACTGGCTTCTAAG -3'

Sequencing Primer
(F):5'- GAGGTCCACAAACCCTCCCTTG -3'
(R):5'- GCTAAACTGGCTTCTAAGATTGATTG -3'

Posted On

2015-04-30