Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02267:Bhmt2'

286947

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bhmt2

Ensembl Gene

ENSMUSG00000042118

Gene Name

betaine-homocysteine methyltransferase 2

Synonyms

C81077, D13Ucla2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

IGL02267

Quality Score

Status

Chromosome

Chromosomal Location

93792605-93810810 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93805854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 56 (V56A)

Ref Sequence

ENSEMBL: ENSMUSP00000015941 (fasta)

Gene Model

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

AlphaFold

Q91WS4

Predicted Effect

probably damaging
Transcript: ENSMUST00000015941
AA Change: V56A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000015941
Gene: ENSMUSG00000042118
AA Change: V56A

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

Coding Region Coverage

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,683,505 (GRCm39)	Q929R	probably benign	Het
Aplf	A	T	6: 87,635,946 (GRCm39)	D122E	probably damaging	Het
Atp2a3	T	A	11: 72,878,810 (GRCm39)	L874Q	probably damaging	Het
Atp2b2	A	T	6: 113,770,691 (GRCm39)	L406Q	probably damaging	Het
Atp6v1b1	A	G	6: 83,733,891 (GRCm39)	D374G	probably benign	Het
Bcas1	T	A	2: 170,220,708 (GRCm39)	R239*	probably null	Het
Cage1	T	C	13: 38,207,233 (GRCm39)	E204G	probably damaging	Het
Ccdc157	G	A	11: 4,094,035 (GRCm39)	A532V	probably benign	Het
Cd300lb	G	A	11: 114,819,303 (GRCm39)	R109*	probably null	Het
Clca4c-ps	T	C	3: 144,585,516 (GRCm39)		noncoding transcript	Het
Ctnna3	G	T	10: 64,781,777 (GRCm39)	V747F	probably benign	Het
Cyp2c29	A	T	19: 39,318,866 (GRCm39)	I488F	probably benign	Het
Cyp3a25	T	C	5: 145,935,362 (GRCm39)	M85V	possibly damaging	Het
Dnah7b	T	A	1: 46,266,090 (GRCm39)	Y2220N	probably damaging	Het
Espl1	A	G	15: 102,224,099 (GRCm39)	I1217V	probably benign	Het
Exoc2	A	G	13: 30,999,304 (GRCm39)	S918P	probably benign	Het
Fer1l4	T	A	2: 155,873,172 (GRCm39)	I1303F	possibly damaging	Het
Gm28047	A	T	15: 102,455,662 (GRCm39)	I234K	probably damaging	Het
Gpcpd1	A	G	2: 132,410,630 (GRCm39)	V19A	probably damaging	Het
Gprin3	A	G	6: 59,331,458 (GRCm39)	V283A	probably benign	Het
Grb14	A	G	2: 64,783,960 (GRCm39)	Y56H	probably damaging	Het
Greb1	A	G	12: 16,767,209 (GRCm39)	F331S	probably benign	Het
Iigp1c	T	G	18: 60,379,470 (GRCm39)	V335G	probably damaging	Het
Jkamp	A	G	12: 72,141,591 (GRCm39)	Y198C	probably damaging	Het
Klk1b11	G	T	7: 43,649,165 (GRCm39)	C234F	probably damaging	Het
Nacad	T	C	11: 6,552,649 (GRCm39)	T181A	probably benign	Het
Or1e23	A	G	11: 73,407,375 (GRCm39)	S217P	probably benign	Het
Or2m13	A	T	16: 19,225,914 (GRCm39)	L285Q	possibly damaging	Het
Or5ak4	T	A	2: 85,161,465 (GRCm39)	Y259F	probably damaging	Het
Pitpnm3	A	T	11: 71,962,274 (GRCm39)	I227N	probably benign	Het
Pnn	A	G	12: 59,116,995 (GRCm39)	E189G	probably damaging	Het
Pnpla2	C	A	7: 141,038,122 (GRCm39)	P197T	probably damaging	Het
Pnpla6	A	G	8: 3,567,327 (GRCm39)	T62A	probably benign	Het
Ptprq	G	T	10: 107,482,419 (GRCm39)	D1051E	probably damaging	Het
Rag2	C	T	2: 101,460,376 (GRCm39)	R229C	probably damaging	Het
Serinc1	A	T	10: 57,399,204 (GRCm39)	I196N	probably damaging	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Slc26a9	T	C	1: 131,680,583 (GRCm39)	C43R	probably damaging	Het
Slc2a3	A	T	6: 122,716,931 (GRCm39)	Y44N	probably benign	Het
Smad5	T	G	13: 56,883,603 (GRCm39)		probably benign	Het
Sugct	C	A	13: 17,819,450 (GRCm39)	V132F	possibly damaging	Het
Supt6	T	C	11: 78,117,030 (GRCm39)	E568G	possibly damaging	Het
Tfpt	T	C	7: 3,631,982 (GRCm39)	T43A	probably damaging	Het
Timp4	A	T	6: 115,224,240 (GRCm39)	V143E	possibly damaging	Het
Tns1	T	C	1: 74,031,290 (GRCm39)	D275G	possibly damaging	Het
Trib1	A	G	15: 59,523,449 (GRCm39)	E161G	probably damaging	Het
Trpc7	A	T	13: 57,008,743 (GRCm39)	L308Q	probably damaging	Het
Ush1c	A	T	7: 45,858,722 (GRCm39)	V522E	possibly damaging	Het
Usp28	T	C	9: 48,935,265 (GRCm39)	V449A	probably damaging	Het
Vmn1r82	A	G	7: 12,039,273 (GRCm39)	Y64C	probably damaging	Het
Wwox	G	A	8: 115,438,805 (GRCm39)	M290I	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
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
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

Posted On

2015-04-16