Mutagenetix > Incidental Mutation

Incidental Mutation 'R1222:Bhmt1b'

152783

Institutional Source

Beutler Lab

Gene Symbol

Bhmt1b

Ensembl Gene

ENSMUSG00000069324

Gene Name

betaine--homocysteine S-methyltransferase 1B

Synonyms

Gm5096

MMRRC Submission

039291-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R1222 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87774410-87776275 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87775458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 327 (K327R)

Ref Sequence

ENSEMBL: ENSMUSP00000135956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091776]

AlphaFold

O35490

Predicted Effect

probably damaging
Transcript: ENSMUST00000091776
AA Change: K327R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135956
Gene: ENSMUSG00000069324
AA Change: K327R

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

Meta Mutation Damage Score

0.2463

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	A	3: 59,784,682 (GRCm39)	L385*	probably null	Het
Abca9	T	C	11: 110,035,890 (GRCm39)		probably benign	Het
Abl1	T	C	2: 31,691,006 (GRCm39)	S842P	probably benign	Het
Agrn	C	A	4: 156,261,842 (GRCm39)	V483L	probably damaging	Het
Ankrd13a	T	A	5: 114,938,824 (GRCm39)	C365*	probably null	Het
Ap2b1	T	C	11: 83,237,564 (GRCm39)	S543P	probably benign	Het
Atic	C	T	1: 71,598,438 (GRCm39)	T67I	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cux1	C	T	5: 136,304,003 (GRCm39)	R1391Q	probably benign	Het
Cyp2a4	T	C	7: 26,008,013 (GRCm39)	V140A	possibly damaging	Het
Dlgap3	A	T	4: 127,088,406 (GRCm39)	M1L	probably null	Het
Dnah3	T	C	7: 119,689,899 (GRCm39)	D2G	probably benign	Het
Erbb3	A	C	10: 128,407,534 (GRCm39)	V938G	probably damaging	Het
Fam13a	C	T	6: 58,912,707 (GRCm39)		probably benign	Het
Gata2	G	A	6: 88,177,323 (GRCm39)	V118I	probably benign	Het
Gm2663	T	C	6: 40,972,975 (GRCm39)	I211V	probably benign	Het
Izumo3	T	A	4: 92,033,284 (GRCm39)	N104I	probably damaging	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Mctp2	T	A	7: 71,908,887 (GRCm39)	H142L	probably benign	Het
Mmp10	T	C	9: 7,505,682 (GRCm39)		probably benign	Het
Mroh8	G	A	2: 157,083,774 (GRCm39)		probably benign	Het
Mylk	T	C	16: 34,681,022 (GRCm39)	V94A	probably benign	Het
Nol6	A	T	4: 41,120,760 (GRCm39)	N396K	probably benign	Het
Nr4a2	A	T	2: 56,998,336 (GRCm39)	N543K	probably damaging	Het
Nynrin	T	C	14: 56,100,998 (GRCm39)	S263P	probably benign	Het
Or10ag53	G	T	2: 87,082,766 (GRCm39)	G162C	probably benign	Het
Or1e35	A	T	11: 73,798,240 (GRCm39)	L26H	probably damaging	Het
Or5p68	T	A	7: 107,945,313 (GRCm39)	I292F	probably damaging	Het
Or7d10	G	A	9: 19,832,344 (GRCm39)	V280I	possibly damaging	Het
Pkhd1	T	A	1: 20,637,680 (GRCm39)	R368S	probably benign	Het
Plekhg4	G	A	8: 106,105,742 (GRCm39)	A736T	probably benign	Het
Plxna2	A	G	1: 194,482,957 (GRCm39)	D1550G	probably damaging	Het
Qrfpr	C	A	3: 36,234,244 (GRCm39)	G366W	probably damaging	Het
Qser1	C	A	2: 104,607,776 (GRCm39)	A1471S	probably damaging	Het
Rars1	A	T	11: 35,700,567 (GRCm39)	Y505N	probably damaging	Het
Reln	T	A	5: 22,191,953 (GRCm39)	T1496S	probably null	Het
Rrs1	T	C	1: 9,616,080 (GRCm39)	L111P	probably benign	Het
Selplg	C	T	5: 113,957,434 (GRCm39)	V291M	possibly damaging	Het
Serpinb1c	T	A	13: 33,080,934 (GRCm39)	T50S	possibly damaging	Het
Slc4a5	A	G	6: 83,257,114 (GRCm39)	K640E	probably damaging	Het
Szt2	A	T	4: 118,262,656 (GRCm39)	H40Q	possibly damaging	Het
Taar4	C	T	10: 23,837,230 (GRCm39)	T280I	probably benign	Het
Tdo2	A	G	3: 81,868,775 (GRCm39)		probably null	Het
Tpp1	T	C	7: 105,395,948 (GRCm39)	N527S	probably benign	Het
Trim43c	A	T	9: 88,725,131 (GRCm39)	T218S	possibly damaging	Het
Trim45	G	T	3: 100,834,614 (GRCm39)	M432I	probably benign	Het
Ubr4	T	C	4: 139,115,782 (GRCm39)		probably null	Het
Vat1l	T	C	8: 115,009,101 (GRCm39)		probably benign	Het
Xpo7	A	T	14: 70,904,524 (GRCm39)	H1037Q	possibly damaging	Het
Zmiz1	T	C	14: 25,658,520 (GRCm39)		probably benign	Het

Other mutations in Bhmt1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02396:Bhmt1b	APN	18	87,774,780 (GRCm39)	missense	possibly damaging	0.58
IGL02510:Bhmt1b	APN	18	87,775,653 (GRCm39)	missense	probably benign	0.17
R1418:Bhmt1b	UTSW	18	87,775,458 (GRCm39)	missense	probably damaging	1.00
R1465:Bhmt1b	UTSW	18	87,775,382 (GRCm39)	missense	probably damaging	1.00
R1465:Bhmt1b	UTSW	18	87,775,382 (GRCm39)	missense	probably damaging	1.00
R1883:Bhmt1b	UTSW	18	87,774,669 (GRCm39)	missense	probably damaging	1.00
R4631:Bhmt1b	UTSW	18	87,774,525 (GRCm39)	missense	probably damaging	0.98
R4799:Bhmt1b	UTSW	18	87,774,573 (GRCm39)	missense	probably damaging	1.00
R5569:Bhmt1b	UTSW	18	87,775,392 (GRCm39)	missense	probably damaging	1.00
R6011:Bhmt1b	UTSW	18	87,774,663 (GRCm39)	missense	probably damaging	1.00
R6156:Bhmt1b	UTSW	18	87,775,231 (GRCm39)	nonsense	probably null
R6160:Bhmt1b	UTSW	18	87,775,245 (GRCm39)	missense	probably damaging	1.00
R6209:Bhmt1b	UTSW	18	87,775,341 (GRCm39)	missense	probably damaging	1.00
R6568:Bhmt1b	UTSW	18	87,775,566 (GRCm39)	missense	probably benign
R6958:Bhmt1b	UTSW	18	87,775,046 (GRCm39)	missense	probably benign
R7226:Bhmt1b	UTSW	18	87,775,590 (GRCm39)	missense	possibly damaging	0.93
R8403:Bhmt1b	UTSW	18	87,775,575 (GRCm39)	missense	probably damaging	0.99
R8416:Bhmt1b	UTSW	18	87,774,687 (GRCm39)	missense	probably damaging	0.99
R9353:Bhmt1b	UTSW	18	87,774,954 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGATTGGAACCCCGAGTTGC -3'
(R):5'- GGGATTTACCCCAAACTGTTGCCTG -3'

Sequencing Primer
(F):5'- CCCGAGTTGCCACTAGATG -3'
(R):5'- CTGCTCAGTAGTGGCCTC -3'

Posted On

2014-01-29