Mutagenetix > Incidental Mutation

Incidental Mutation 'R3429:Bhmt'

268028

Institutional Source

Beutler Lab

Gene Symbol

Bhmt

Ensembl Gene

ENSMUSG00000074768

Gene Name

betaine-homocysteine methyltransferase

Synonyms

MMRRC Submission

040647-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3429 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93753399-93774266 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93763855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 62 (E62G)

Ref Sequence

ENSEMBL: ENSMUSP00000096912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099309]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000099309
AA Change: E62G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096912
Gene: ENSMUSG00000074768
AA Change: E62G

Domain	Start	End	E-Value	Type
Pfam:S-methyl_trans	23	314	5e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143025

Meta Mutation Damage Score

0.9049

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit slow postnatal weight gain, altered homocysteine, choline, and one-carbon homeostasis, fatty liver, and hepatocellular carcinomas. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,613,249 (GRCm39)	M1K	probably null	Het
Afap1l2	C	A	19: 56,904,238 (GRCm39)	R683L	probably damaging	Het
Ankfy1	C	T	11: 72,602,980 (GRCm39)		probably benign	Het
Aoc1	A	T	6: 48,883,010 (GRCm39)	E295D	probably benign	Het
Asah1	C	T	8: 41,804,925 (GRCm39)		probably benign	Het
B4galnt4	T	C	7: 140,650,752 (GRCm39)	L842P	probably damaging	Het
Btbd10	T	A	7: 112,951,016 (GRCm39)	R25*	probably null	Het
Cdh5	T	A	8: 104,857,600 (GRCm39)	I342N	possibly damaging	Het
Clca3a2	T	A	3: 144,512,088 (GRCm39)	E109D	probably benign	Het
Cntrl	T	C	2: 35,035,112 (GRCm39)	L913S	probably damaging	Het
Col12a1	T	A	9: 79,587,593 (GRCm39)	T1183S	probably benign	Het
Col6a6	A	T	9: 105,655,166 (GRCm39)	Y852N	probably damaging	Het
Cpeb2	T	C	5: 43,438,573 (GRCm39)		probably null	Het
Cyp2c66	T	A	19: 39,151,892 (GRCm39)	N202K	probably damaging	Het
Dchs1	A	G	7: 105,405,711 (GRCm39)	V2391A	possibly damaging	Het
Dgat2	A	G	7: 98,806,300 (GRCm39)	V299A	probably benign	Het
Dnah6	G	A	6: 73,098,797 (GRCm39)	S2034L	possibly damaging	Het
Eps8l2	G	A	7: 140,937,832 (GRCm39)		probably null	Het
Fgg	T	A	3: 82,920,090 (GRCm39)	F290I	probably damaging	Het
Filip1	A	T	9: 79,760,952 (GRCm39)	M194K	probably damaging	Het
Foxl2	T	C	9: 98,838,035 (GRCm39)	F108L	probably damaging	Het
Fut1	T	C	7: 45,268,798 (GRCm39)	F196L	probably damaging	Het
Gm10323	A	C	13: 67,002,888 (GRCm39)	W17G	probably damaging	Het
Gstz1	T	A	12: 87,210,470 (GRCm39)		probably null	Het
Hacd1	T	C	2: 14,049,586 (GRCm39)		probably benign	Het
Hmcn2	T	A	2: 31,299,156 (GRCm39)	L2834Q	possibly damaging	Het
Hs3st3a1	C	T	11: 64,327,148 (GRCm39)	R86W	probably benign	Het
Krtap1-4	G	C	11: 99,474,020 (GRCm39)		probably benign	Het
Lmntd2	A	G	7: 140,793,910 (GRCm39)	V21A	probably benign	Het
Lonp1	T	A	17: 56,925,337 (GRCm39)	D485V	probably damaging	Het
Mia2	A	G	12: 59,236,427 (GRCm39)	T1346A	possibly damaging	Het
Mpp2	T	C	11: 101,976,141 (GRCm39)	T6A	probably benign	Het
Mycbp2	A	T	14: 103,466,866 (GRCm39)	V1299E	probably damaging	Het
Myo1d	C	T	11: 80,573,236 (GRCm39)	G197E	probably damaging	Het
Nfib	T	C	4: 82,416,532 (GRCm39)	I168V	possibly damaging	Het
Or2ak5	T	A	11: 58,611,097 (GRCm39)	Y259F	probably damaging	Het
Or2b7	A	T	13: 21,739,975 (GRCm39)	C72*	probably null	Het
Or2y1e	C	T	11: 49,218,868 (GRCm39)	A210V	probably benign	Het
Or4c121	T	A	2: 89,023,617 (GRCm39)	I254L	probably benign	Het
Or4c29	C	T	2: 88,739,810 (GRCm39)	R309Q	probably benign	Het
Parp3	A	T	9: 106,351,922 (GRCm39)	I150K	probably damaging	Het
Pnp	A	G	14: 51,185,443 (GRCm39)	D49G	probably benign	Het
Prkcq	T	C	2: 11,251,781 (GRCm39)	I206T	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rlf	A	G	4: 121,007,729 (GRCm39)	L417P	probably benign	Het
Scn7a	AT	ATT	2: 66,531,239 (GRCm39)		probably null	Het
Sgce	T	A	6: 4,730,008 (GRCm39)	D72V	probably benign	Het
Sh3d21	A	G	4: 126,056,625 (GRCm39)	S66P	probably benign	Het
Sost	C	G	11: 101,854,865 (GRCm39)	G148A	probably damaging	Het
Sybu	T	C	15: 44,609,854 (GRCm39)	E138G	probably damaging	Het
Tas1r2	A	G	4: 139,396,886 (GRCm39)	T742A	probably damaging	Het
Tet3	A	G	6: 83,380,401 (GRCm39)	V589A	probably damaging	Het
Tnxb	C	A	17: 34,891,605 (GRCm39)	C649*	probably null	Het
Tnxb	A	G	17: 34,922,561 (GRCm39)	Y2458C	probably damaging	Het
Tsku	T	C	7: 98,001,746 (GRCm39)	N195S	probably damaging	Het
Vmn1r215	T	A	13: 23,260,378 (GRCm39)	N139K	probably damaging	Het
Zfp106	T	C	2: 120,357,544 (GRCm39)	H1117R	probably benign	Het
Zfp26	A	G	9: 20,352,756 (GRCm39)		probably benign	Het
Zfp764l1	T	C	7: 126,990,914 (GRCm39)	T358A	possibly damaging	Het
Zfp804b	T	A	5: 7,230,625 (GRCm39)		probably benign	Het
Zfr	T	C	15: 12,153,006 (GRCm39)	S546P	probably benign	Het

Other mutations in Bhmt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01730:Bhmt	APN	13	93,761,917 (GRCm39)	missense	probably damaging	1.00
IGL02365:Bhmt	APN	13	93,754,146 (GRCm39)	missense	probably benign
IGL02556:Bhmt	APN	13	93,774,008 (GRCm39)	utr 5 prime	probably benign
R0279:Bhmt	UTSW	13	93,761,972 (GRCm39)	missense	probably damaging	1.00
R1853:Bhmt	UTSW	13	93,761,843 (GRCm39)	missense	probably damaging	0.98
R2012:Bhmt	UTSW	13	93,761,900 (GRCm39)	missense	probably damaging	1.00
R2065:Bhmt	UTSW	13	93,754,120 (GRCm39)	missense	probably benign	0.01
R2283:Bhmt	UTSW	13	93,756,809 (GRCm39)	missense	probably damaging	1.00
R3430:Bhmt	UTSW	13	93,763,855 (GRCm39)	missense	probably damaging	1.00
R4166:Bhmt	UTSW	13	93,762,007 (GRCm39)	splice site	probably benign
R4729:Bhmt	UTSW	13	93,763,871 (GRCm39)	missense	probably damaging	0.97
R5135:Bhmt	UTSW	13	93,763,831 (GRCm39)	missense	probably damaging	0.99
R5277:Bhmt	UTSW	13	93,761,393 (GRCm39)	missense	possibly damaging	0.64
R7233:Bhmt	UTSW	13	93,758,025 (GRCm39)	nonsense	probably null
R7553:Bhmt	UTSW	13	93,756,589 (GRCm39)	critical splice donor site	probably null
R7828:Bhmt	UTSW	13	93,754,156 (GRCm39)	missense	possibly damaging	0.55
R8499:Bhmt	UTSW	13	93,756,600 (GRCm39)	missense	probably benign	0.18
R9621:Bhmt	UTSW	13	93,758,079 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- AGCTTTCCTCTGTGGGAACTTG -3'
(R):5'- CATCATGACTTTGCAGGTTGG -3'

Sequencing Primer
(F):5'- CCTCTGTGGGAACTTGGGTGG -3'
(R):5'- AGTGACATCATGGCTTTGCAG -3'

Posted On

2015-02-18