Mutagenetix > Incidental Mutation

Incidental Mutation 'R8499:Bhmt'

658434

Institutional Source

Beutler Lab

Gene Symbol

Bhmt

Ensembl Gene

ENSMUSG00000074768

Gene Name

betaine-homocysteine methyltransferase

Synonyms

MMRRC Submission

067941-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8499 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93753399-93774266 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93756600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 343 (I343F)

Ref Sequence

ENSEMBL: ENSMUSP00000096912 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000099309
AA Change: I343F

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000096912
Gene: ENSMUSG00000074768
AA Change: I343F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (49/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	G	8: 41,208,189 (GRCm39)	D485G	probably damaging	Het
Ap4b1	G	A	3: 103,728,018 (GRCm39)	R344Q	probably damaging	Het
Apol7c	G	T	15: 77,410,280 (GRCm39)	P222Q	possibly damaging	Het
Atf6b	T	C	17: 34,869,796 (GRCm39)	L272P	probably damaging	Het
Atp11b	G	T	3: 35,864,854 (GRCm39)	R559I	probably benign	Het
Btbd7	A	T	12: 102,754,631 (GRCm39)	F712I	probably damaging	Het
Card14	T	C	11: 119,222,070 (GRCm39)	L455P	probably benign	Het
Cast	A	T	13: 74,946,835 (GRCm39)	H26Q	probably benign	Het
Clcn1	A	G	6: 42,284,133 (GRCm39)	N567S	probably damaging	Het
Cnot6l	A	T	5: 96,225,176 (GRCm39)	W506R	probably damaging	Het
Dynap	T	A	18: 70,374,044 (GRCm39)	I161L	unknown	Het
Eif4g3	A	C	4: 137,893,239 (GRCm39)	T996P	probably damaging	Het
Exoc8	A	G	8: 125,623,849 (GRCm39)	Y173H	probably benign	Het
Fbll1	C	T	11: 35,688,907 (GRCm39)	V119M	probably damaging	Het
Fbxw22	A	T	9: 109,214,068 (GRCm39)	F249L	probably benign	Het
Fxyd1	C	A	7: 30,752,529 (GRCm39)		probably benign	Het
Grhl3	C	A	4: 135,276,549 (GRCm39)		probably null	Het
Grk4	A	G	5: 34,902,690 (GRCm39)	E414G	possibly damaging	Het
H2bc8	T	A	13: 23,755,880 (GRCm39)	S92T	probably benign	Het
H2-Q5	A	G	17: 35,613,820 (GRCm39)	D123G		Het
H2-Q5	C	T	17: 35,613,945 (GRCm39)	R165*	probably null	Het
Hgf	A	T	5: 16,771,854 (GRCm39)	E160D	probably damaging	Het
Ifi211	T	C	1: 173,733,086 (GRCm39)	I192V	probably benign	Het
Klk1b22	T	C	7: 43,762,144 (GRCm39)	F7L	probably benign	Het
Lcmt1	C	A	7: 123,029,371 (GRCm39)	T331N	probably benign	Het
Lrrc36	A	T	8: 106,176,168 (GRCm39)	T181S	possibly damaging	Het
Ltbp3	T	A	19: 5,798,712 (GRCm39)	S520T	probably benign	Het
Nacc1	A	T	8: 85,403,345 (GRCm39)	C177S	probably damaging	Het
Nedd4l	T	A	18: 65,342,728 (GRCm39)	V888E	probably damaging	Het
Oc90	C	T	15: 65,753,405 (GRCm39)	G305S	probably damaging	Het
Or51a25	A	G	7: 102,372,932 (GRCm39)	V255A	probably damaging	Het
Or52i2	T	A	7: 102,320,012 (GRCm39)	I295N	probably damaging	Het
Pappa2	T	A	1: 158,764,092 (GRCm39)	D473V	probably damaging	Het
Pou2f2	C	A	7: 24,799,623 (GRCm39)	G117C	probably damaging	Het
Prkci	A	G	3: 31,079,366 (GRCm39)	H68R	probably damaging	Het
Pygm	A	G	19: 6,440,392 (GRCm39)	K479E	probably damaging	Het
Qpct	A	G	17: 79,384,996 (GRCm39)	D212G	probably damaging	Het
Sh3glb2	A	T	2: 30,249,216 (GRCm39)	M1K	probably null	Het
Slc22a5	A	G	11: 53,758,469 (GRCm39)	S444P	probably damaging	Het
Snai3	G	A	8: 123,183,144 (GRCm39)	H134Y	probably benign	Het
Synpo	T	C	18: 60,736,044 (GRCm39)	D395G	probably damaging	Het
Tmem63c	C	T	12: 87,119,738 (GRCm39)	T344I	probably damaging	Het
Tnfsf14	A	G	17: 57,497,534 (GRCm39)	Y233H		Het
Ttn	A	G	2: 76,749,335 (GRCm39)	F3905L	probably benign	Het
Tubgcp5	T	A	7: 55,454,363 (GRCm39)	H219Q	possibly damaging	Het
Usp16	C	T	16: 87,271,536 (GRCm39)	T364M	possibly damaging	Het
Vmn1r59	C	T	7: 5,457,750 (GRCm39)	M3I	probably benign	Het
Vmn2r61	T	A	7: 41,949,700 (GRCm39)	C707S	probably damaging	Het
Vps13b	T	C	15: 35,841,466 (GRCm39)	S2499P	probably damaging	Het
Ythdf3	A	G	3: 16,259,179 (GRCm39)	E442G	possibly damaging	Het
Zfp1001	T	C	2: 150,204,907 (GRCm39)	S74P	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
R3429:Bhmt	UTSW	13	93,763,855 (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
R9621:Bhmt	UTSW	13	93,758,079 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TGGAACACAGACTCACATTTGC -3'
(R):5'- AGGATTGGAACCCCGAGTTG -3'

Sequencing Primer
(F):5'- ACTGTGGAGGAGTTAGAC -3'
(R):5'- ACCCCGAGTTGCCACTAGATG -3'

Posted On

2021-01-18