Mutagenetix > Incidental Mutation

Incidental Mutation 'R1517:Bhmt2'

167124

Institutional Source

Beutler Lab

Gene Symbol

Bhmt2

Ensembl Gene

ENSMUSG00000042118

Gene Name

betaine-homocysteine methyltransferase 2

Synonyms

C81077, D13Ucla2

MMRRC Submission

039563-MU

Accession Numbers

Essential gene?

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

Stock #

R1517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93792605-93810810 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 93798847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 325 (G325C)

Ref Sequence

ENSEMBL: ENSMUSP00000015941 (fasta)

Gene Model

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

AlphaFold

Q91WS4

Predicted Effect

probably damaging
Transcript: ENSMUST00000015941
AA Change: G325C

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000015941
Gene: ENSMUSG00000042118
AA Change: G325C

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

Meta Mutation Damage Score

0.6380

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,862,640 (GRCm39)	K375R	possibly damaging	Het
Adrb2	T	C	18: 62,311,871 (GRCm39)	N318S	probably damaging	Het
Akap5	A	C	12: 76,376,036 (GRCm39)	E489D	possibly damaging	Het
Aldh7a1	T	A	18: 56,665,133 (GRCm39)	I385F	probably damaging	Het
Astn1	T	A	1: 158,407,146 (GRCm39)		probably benign	Het
Atp7b	T	A	8: 22,487,374 (GRCm39)	T1314S	probably damaging	Het
Brpf1	T	A	6: 113,296,050 (GRCm39)	V781E	probably benign	Het
Cacna1c	T	A	6: 118,575,720 (GRCm39)	Y1860F	probably benign	Het
Ccdc7a	T	C	8: 129,788,162 (GRCm39)	T56A	probably damaging	Het
Cep78	A	G	19: 15,937,027 (GRCm39)	S560P	probably damaging	Het
Cnot1	G	A	8: 96,469,841 (GRCm39)	T1343I	probably benign	Het
Coq10b	T	C	1: 55,103,416 (GRCm39)	S65P	probably damaging	Het
Creld1	T	A	6: 113,466,745 (GRCm39)	C243S	probably damaging	Het
Cst12	A	T	2: 148,635,172 (GRCm39)	I121F	possibly damaging	Het
Cyp26a1	A	C	19: 37,687,308 (GRCm39)	E165A	probably benign	Het
Cyp2d12	T	G	15: 82,442,337 (GRCm39)	M273R	probably damaging	Het
Dnajb7	T	A	15: 81,291,657 (GRCm39)	S227C	probably damaging	Het
Evc	T	A	5: 37,476,379 (GRCm39)	Q390L	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,970 (GRCm39)	L351*	probably null	Het
Fga	T	C	3: 82,939,145 (GRCm39)	S507P	probably benign	Het
Gba1	A	T	3: 89,113,455 (GRCm39)	Y239F	probably damaging	Het
Golga2	C	A	2: 32,195,996 (GRCm39)	Y843*	probably null	Het
Gria4	C	A	9: 4,793,865 (GRCm39)	L64F	probably damaging	Het
Hectd3	A	G	4: 116,860,191 (GRCm39)	Y803C	probably damaging	Het
Hmcn1	T	C	1: 150,545,172 (GRCm39)	K2812E	probably damaging	Het
Il17b	T	G	18: 61,823,316 (GRCm39)	V50G	probably damaging	Het
Itga2b	A	T	11: 102,357,151 (GRCm39)	L243*	probably null	Het
Kank4	C	A	4: 98,667,266 (GRCm39)	V394L	possibly damaging	Het
Kat14	T	A	2: 144,215,711 (GRCm39)	D65E	probably benign	Het
Kcnh3	T	C	15: 99,136,090 (GRCm39)	Y696H	probably damaging	Het
Kctd19	C	A	8: 106,122,008 (GRCm39)	D180Y	probably damaging	Het
Klra8	A	C	6: 130,092,603 (GRCm39)	S233A	probably benign	Het
Masp2	A	T	4: 148,696,563 (GRCm39)	T387S	possibly damaging	Het
Midn	C	A	10: 79,989,957 (GRCm39)	T275N	probably damaging	Het
Mis18bp1	A	G	12: 65,180,587 (GRCm39)	F965L	probably benign	Het
Myo3a	G	T	2: 22,287,445 (GRCm39)	V186L	probably damaging	Het
Ncoa2	T	A	1: 13,235,281 (GRCm39)	N884I	probably benign	Het
Or10d4	T	C	9: 39,581,016 (GRCm39)	I221T	probably damaging	Het
Or13c25	A	T	4: 52,911,502 (GRCm39)	C97*	probably null	Het
Or8k35	T	A	2: 86,424,948 (GRCm39)	T75S	probably damaging	Het
Osr2	T	C	15: 35,300,813 (GRCm39)	V123A	probably benign	Het
P4ha2	A	G	11: 54,008,471 (GRCm39)	H226R	probably benign	Het
Pcdhb16	T	A	18: 37,611,151 (GRCm39)	V37E	probably benign	Het
Pcdhb18	T	A	18: 37,622,673 (GRCm39)	M1K	probably null	Het
Pcsk1	T	A	13: 75,246,166 (GRCm39)	Y181*	probably null	Het
Pros1	G	T	16: 62,705,875 (GRCm39)	C63F	probably damaging	Het
Ranbp3l	T	A	15: 9,065,081 (GRCm39)	C353*	probably null	Het
Rev3l	T	C	10: 39,714,439 (GRCm39)	Y2388H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rpl12-ps1	G	T	1: 36,997,458 (GRCm39)		noncoding transcript	Het
Rttn	T	C	18: 89,131,474 (GRCm39)	V1951A	probably benign	Het
Scn9a	G	A	2: 66,335,371 (GRCm39)		probably benign	Het
Sdk1	T	C	5: 142,113,591 (GRCm39)	F1546S	probably damaging	Het
Sh3glb2	C	T	2: 30,244,987 (GRCm39)	R71Q	probably damaging	Het
Slc30a6	T	C	17: 74,715,842 (GRCm39)	F101L	probably benign	Het
Snrpd1	T	C	18: 10,626,913 (GRCm39)	I60T	probably damaging	Het
Sox10	T	A	15: 79,043,378 (GRCm39)	E218D	probably benign	Het
Tekt3	C	A	11: 62,961,316 (GRCm39)	H162N	probably damaging	Het
Tnfsf13	T	C	11: 69,575,564 (GRCm39)	S246G	possibly damaging	Het
Trim10	T	A	17: 37,183,346 (GRCm39)	I214N	probably damaging	Het
Trp63	C	A	16: 25,708,003 (GRCm39)	D566E	probably damaging	Het
Uck2	T	C	1: 167,062,293 (GRCm39)	D156G	probably damaging	Het
Zfp386	T	A	12: 116,023,225 (GRCm39)	S314R	possibly damaging	Het
Zfp467	C	T	6: 48,415,170 (GRCm39)	R494H	probably damaging	Het
Zfp735	A	T	11: 73,601,470 (GRCm39)	D138V	probably benign	Het
Zfyve26	T	C	12: 79,298,925 (GRCm39)	E445G	probably damaging	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
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
R4024:Bhmt2	UTSW	13	93,799,839 (GRCm39)	splice site	probably benign
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'- CACCCAGTTGATGGGATTTCCTTAGAG -3'
(R):5'- AGCCAAGAGTTGCCACCAGATG -3'

Sequencing Primer
(F):5'- CCTTAGAGTGGTCTGAGCAG -3'
(R):5'- GGATTTGAGCCCTACCACAT -3'

Posted On

2014-04-13