Mutagenetix > Incidental Mutation

Incidental Mutation 'R5333:Bhmt2'

423368

Institutional Source

Beutler Lab

Gene Symbol

Bhmt2

Ensembl Gene

ENSMUSG00000042118

Gene Name

betaine-homocysteine methyltransferase 2

Synonyms

C81077, D13Ucla2

MMRRC Submission

042915-MU

Accession Numbers

Essential gene?

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

Stock #

R5333 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93792605-93810810 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93807938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 50 (V50A)

Ref Sequence

ENSEMBL: ENSMUSP00000015941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015941] [ENSMUST00000048001]

AlphaFold

Q91WS4

Predicted Effect

probably benign
Transcript: ENSMUST00000015941
AA Change: V50A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000015941
Gene: ENSMUSG00000042118
AA Change: V50A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000048001

SMART Domains

Protein: ENSMUSP00000039663
Gene: ENSMUSG00000042102

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Pfam:DAO	44	407	9.3e-64	PFAM
Pfam:FAO_M	410	464	1e-15	PFAM
Pfam:GCV_T	468	738	3.6e-72	PFAM
Pfam:SoxG	559	697	1.3e-10	PFAM
Pfam:GCV_T_C	745	838	3.9e-26	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

97% (56/58)

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
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abca14	T	A	7: 119,888,769 (GRCm39)	Y1238*	probably null	Het
Abcb5	A	T	12: 118,831,677 (GRCm39)	V1225D	probably damaging	Het
Arhgef15	A	G	11: 68,838,022 (GRCm39)		probably benign	Het
As3mt	A	G	19: 46,696,635 (GRCm39)	R58G	probably null	Het
Asap1	T	G	15: 63,999,263 (GRCm39)	N525T	possibly damaging	Het
Bpnt2	A	C	4: 4,767,963 (GRCm39)	V271G	possibly damaging	Het
Ccdc180	A	T	4: 45,890,935 (GRCm39)	I36F	possibly damaging	Het
Cd209c	A	G	8: 3,994,976 (GRCm39)	S63P	probably damaging	Het
Cdc37	T	C	9: 21,054,457 (GRCm39)	E56G	possibly damaging	Het
Cdkal1	T	C	13: 29,510,135 (GRCm39)	Y541C	probably benign	Het
Cenph	G	T	13: 100,898,280 (GRCm39)	H208N	probably benign	Het
Cfap65	A	T	1: 74,942,334 (GRCm39)	L1740Q	probably benign	Het
Cfap74	A	G	4: 155,521,197 (GRCm39)	D623G	probably damaging	Het
Ckap4	C	A	10: 84,363,474 (GRCm39)	V530L	probably damaging	Het
Cldn13	A	T	5: 134,943,869 (GRCm39)	N105K	probably benign	Het
Ddn	T	C	15: 98,703,237 (GRCm39)	D685G	possibly damaging	Het
Fdxr	T	C	11: 115,163,084 (GRCm39)	I70V	probably benign	Het
Fn1	A	T	1: 71,663,339 (GRCm39)	Y1050N	probably damaging	Het
Iqcf3	A	G	9: 106,430,860 (GRCm39)	I96T	possibly damaging	Het
Itgax	A	G	7: 127,741,455 (GRCm39)	Y822C	probably damaging	Het
Katnb1	A	T	8: 95,822,234 (GRCm39)	I286L	possibly damaging	Het
Lrp2	A	C	2: 69,355,572 (GRCm39)	I424R	probably benign	Het
Lrpprc	C	A	17: 85,097,821 (GRCm39)	A41S	probably benign	Het
Mast3	A	G	8: 71,236,145 (GRCm39)	L761P	probably benign	Het
Mmp1b	T	C	9: 7,384,897 (GRCm39)	I251V	possibly damaging	Het
Mpp4	C	A	1: 59,196,600 (GRCm39)	R44L	probably benign	Het
Nalf1	T	A	8: 9,820,762 (GRCm39)	Q86L	possibly damaging	Het
Nkain3	T	A	4: 20,484,889 (GRCm39)	M63L	probably benign	Het
Nup88	A	C	11: 70,835,842 (GRCm39)		probably benign	Het
Obscn	A	T	11: 58,953,518 (GRCm39)	C3837S	probably damaging	Het
Ogdh	T	G	11: 6,302,126 (GRCm39)	L850V	probably damaging	Het
Or4f17-ps1	A	G	2: 111,358,048 (GRCm39)	I148V	probably benign	Het
Or5w11	A	G	2: 87,459,458 (GRCm39)	Y217C	probably damaging	Het
Panx2	T	C	15: 88,952,742 (GRCm39)	I411T	possibly damaging	Het
Papss1	T	A	3: 131,348,805 (GRCm39)	M585K	probably damaging	Het
Pcbp2	T	G	15: 102,394,456 (GRCm39)	L180R	possibly damaging	Het
Pcdha7	A	T	18: 37,107,619 (GRCm39)	T215S	probably benign	Het
Pcdhga4	C	T	18: 37,818,477 (GRCm39)	R9C	probably benign	Het
Plin4	A	G	17: 56,411,970 (GRCm39)	V687A	probably benign	Het
Potefam1	A	T	2: 111,024,682 (GRCm39)	Y61N	possibly damaging	Het
Psma6	A	G	12: 55,454,213 (GRCm39)		probably benign	Het
Rcn1	A	T	2: 105,219,471 (GRCm39)	S241T	probably benign	Het
Scgb2b18	A	T	7: 32,872,700 (GRCm39)	L35H	probably damaging	Het
Slc11a1	A	C	1: 74,423,304 (GRCm39)	D385A	probably damaging	Het
Stk31	T	A	6: 49,446,086 (GRCm39)	C930S	probably benign	Het
Syt10	T	A	15: 89,725,932 (GRCm39)	Q14L	probably benign	Het
Tnxb	T	G	17: 34,909,205 (GRCm39)	W1578G	probably damaging	Het
Triml1	C	T	8: 43,583,327 (GRCm39)	A425T	possibly damaging	Het
Vil1	G	A	1: 74,471,549 (GRCm39)	V777I	probably benign	Het
Vmn1r175	T	C	7: 23,508,004 (GRCm39)	I208V	possibly 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
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
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'- GCTTCAGTCCACACAACTGC -3'
(R):5'- GCCCAGAAACCATGCTATAATGTC -3'

Sequencing Primer
(F):5'- AACTGCCATGACCTTCGC -3'
(R):5'- CAAGGCTGCCATTCTTAAAGTTTG -3'

Posted On

2016-08-04