Mutagenetix > Incidental Mutation

Incidental Mutation 'R6011:Bhmt1b'

479778

Institutional Source

Beutler Lab

Gene Symbol

Bhmt1b

Ensembl Gene

ENSMUSG00000069324

Gene Name

betaine--homocysteine S-methyltransferase 1B

Synonyms

Gm5096

MMRRC Submission

043253-MU

Accession Numbers

Essential gene?

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

Stock #

R6011 (G1)

Quality Score

205.009

Status

Not validated

Chromosome

Chromosomal Location

87774410-87776275 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87774663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 62 (E62G)

Ref Sequence

ENSEMBL: ENSMUSP00000135956 (fasta)

Gene Model

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

AlphaFold

O35490

Predicted Effect

probably damaging
Transcript: ENSMUST00000091776
AA Change: E62G

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

SMART Domains

Protein: ENSMUSP00000135956
Gene: ENSMUSG00000069324
AA Change: E62G

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,136,570 (GRCm39)	N533K	probably benign	Het
Adamts15	G	T	9: 30,814,082 (GRCm39)	H694Q	probably damaging	Het
Adcy5	T	C	16: 34,977,598 (GRCm39)	L377P	probably benign	Het
Add2	T	C	6: 86,075,607 (GRCm39)	L252P	probably damaging	Het
Amer1	ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	X: 94,470,889 (GRCm39)		probably benign	Het
Ankrd13d	A	G	19: 4,331,962 (GRCm39)	L39P	probably damaging	Het
Asic1	G	T	15: 99,596,960 (GRCm39)	A541S	probably benign	Het
Bpifb2	A	G	2: 153,731,496 (GRCm39)		probably null	Het
Catsper3	A	G	13: 55,934,305 (GRCm39)	I75M	probably damaging	Het
Ccser2	T	C	14: 36,601,532 (GRCm39)	E837G	probably benign	Het
Clasp2	C	T	9: 113,705,315 (GRCm39)	P557L	probably benign	Het
Clstn2	C	T	9: 97,338,579 (GRCm39)	R860Q	probably benign	Het
Cplx3	A	T	9: 57,523,038 (GRCm39)	D140E	probably damaging	Het
Cyp2c66	A	G	19: 39,130,380 (GRCm39)	K72E	probably benign	Het
Cyp3a44	A	G	5: 145,738,084 (GRCm39)		probably null	Het
Disp2	G	A	2: 118,621,301 (GRCm39)	V678I	possibly damaging	Het
Dock4	T	C	12: 40,867,756 (GRCm39)		probably null	Het
Eml3	T	C	19: 8,916,471 (GRCm39)	Y688H	probably damaging	Het
Fam187a	A	G	11: 102,776,267 (GRCm39)	K24E	probably damaging	Het
Fhit	T	C	14: 9,870,068 (GRCm38)	K134E	probably benign	Het
Foxl3	A	G	5: 138,807,374 (GRCm39)	*217W	probably null	Het
Gm16485	A	T	9: 8,972,454 (GRCm39)		probably benign	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Hmgxb3	G	A	18: 61,296,096 (GRCm39)	T304I	probably damaging	Het
Lgsn	A	G	1: 31,242,847 (GRCm39)	S310G	probably damaging	Het
Muc21	T	A	17: 35,933,074 (GRCm39)		probably benign	Het
Niban2	T	C	2: 32,812,877 (GRCm39)	Y482H	probably damaging	Het
Or12e13	A	G	2: 87,664,259 (GRCm39)	N292S	probably damaging	Het
Or4k42	C	A	2: 111,320,192 (GRCm39)	A104S	probably benign	Het
Or6c8b	A	T	10: 128,882,508 (GRCm39)	H141Q	probably benign	Het
Or7g25	T	A	9: 19,159,807 (GRCm39)	E296V	probably damaging	Het
Or9i1b	G	A	19: 13,896,521 (GRCm39)	V46I	probably benign	Het
Pelo	A	G	13: 115,226,302 (GRCm39)	S52P	probably benign	Het
Prune2	A	G	19: 17,096,080 (GRCm39)	N528S	probably benign	Het
Rfc3	T	A	5: 151,567,184 (GRCm39)	I291L	probably damaging	Het
Rpl35	A	T	2: 38,894,813 (GRCm39)		probably null	Het
Sectm1b	C	T	11: 120,946,704 (GRCm39)	V64I	possibly damaging	Het
Serpina12	A	G	12: 104,001,993 (GRCm39)	M241T	probably damaging	Het
Serpina1a	T	A	12: 103,823,728 (GRCm39)	D195V	probably damaging	Het
Sesn2	C	T	4: 132,226,708 (GRCm39)	V129M	probably damaging	Het
Slc4a1	A	C	11: 102,243,357 (GRCm39)	V758G	probably damaging	Het
Tmx4	A	T	2: 134,481,756 (GRCm39)	Y56N	probably damaging	Het
Traj50	T	C	14: 54,405,091 (GRCm39)		probably benign	Het
Trio	T	G	15: 27,735,631 (GRCm39)	K2820Q	probably damaging	Het
Ttc28	G	A	5: 111,434,309 (GRCm39)	G2417S	probably benign	Het
Usp32	T	C	11: 84,922,923 (GRCm39)	D665G	possibly damaging	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
R1222:Bhmt1b	UTSW	18	87,775,458 (GRCm39)	missense	probably damaging	1.00
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
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'- ACTACACCGGAAAGATGGC -3'
(R):5'- AAGGTATGAAGGCGTCTGGC -3'

Sequencing Primer
(F):5'- CCGGAAAGATGGCACCAGTTG -3'
(R):5'- GCTCACGCCTCCTGCAAC -3'

Posted On

2017-06-26