Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02510:Bhmt1b'

296499

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bhmt1b

Ensembl Gene

ENSMUSG00000069324

Gene Name

betaine--homocysteine S-methyltransferase 1B

Synonyms

Gm5096

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

IGL02510

Quality Score

Status

Chromosome

Chromosomal Location

87774410-87776275 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87775653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 392 (Q392R)

Ref Sequence

ENSEMBL: ENSMUSP00000135956 (fasta)

Gene Model

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

AlphaFold

O35490

Predicted Effect

probably benign
Transcript: ENSMUST00000091776
AA Change: Q392R

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000135956
Gene: ENSMUSG00000069324
AA Change: Q392R

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	G	A	1: 171,078,959 (GRCm39)	S193N	probably benign	Het
Arrdc1	C	A	2: 24,825,112 (GRCm39)	V16F	probably damaging	Het
Bsx	A	T	9: 40,785,517 (GRCm39)	Q15L	possibly damaging	Het
Casp8ap2	A	G	4: 32,639,704 (GRCm39)	T253A	probably benign	Het
Cdkl3	T	C	11: 51,902,097 (GRCm39)	L102P	probably damaging	Het
Cgnl1	G	T	9: 71,632,639 (GRCm39)	N237K	probably benign	Het
Cldn14	T	A	16: 93,716,844 (GRCm39)	M1L	probably damaging	Het
Col1a2	C	T	6: 4,516,398 (GRCm39)	R171C	unknown	Het
Col7a1	C	A	9: 108,802,299 (GRCm39)		probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dhrs2	G	A	14: 55,473,532 (GRCm39)	V64M	probably damaging	Het
Disp3	G	A	4: 148,337,158 (GRCm39)	H886Y	probably benign	Het
Dst	G	A	1: 34,268,332 (GRCm39)		probably null	Het
Fnbp4	T	C	2: 90,581,819 (GRCm39)	V215A	probably benign	Het
Fzd9	A	G	5: 135,278,469 (GRCm39)	L472P	probably damaging	Het
Hpd	C	T	5: 123,319,973 (GRCm39)	R15Q	possibly damaging	Het
Htra2	A	G	6: 83,028,592 (GRCm39)	V412A	probably damaging	Het
Ift80	A	G	3: 68,805,876 (GRCm39)	F722S	probably benign	Het
Kcnq2	T	C	2: 180,723,154 (GRCm39)	T741A	probably benign	Het
Kl	A	C	5: 150,912,466 (GRCm39)	E738D	probably damaging	Het
Klra4	T	A	6: 130,036,506 (GRCm39)	I178L	probably damaging	Het
Klra9	T	C	6: 130,168,185 (GRCm39)	E27G	probably benign	Het
Kntc1	T	C	5: 123,957,125 (GRCm39)	Y2145H	probably benign	Het
Mbd5	T	A	2: 49,147,041 (GRCm39)	M417K	probably benign	Het
Med31	C	T	11: 72,102,882 (GRCm39)	M75I	probably benign	Het
Mpeg1	A	T	19: 12,438,788 (GRCm39)	D82V	probably damaging	Het
Msto1	A	G	3: 88,817,652 (GRCm39)	Y439H	probably damaging	Het
Or1e17	G	A	11: 73,831,831 (GRCm39)	G253E	probably damaging	Het
Or1j15	T	C	2: 36,458,693 (GRCm39)	S28P	possibly damaging	Het
Or2av9	T	C	11: 58,381,365 (GRCm39)	Y72C	probably damaging	Het
Or5p64	T	A	7: 107,855,348 (GRCm39)		probably benign	Het
Prtg	G	A	9: 72,798,151 (GRCm39)	V706M	probably damaging	Het
Sfxn2	G	T	19: 46,576,711 (GRCm39)	A186S	probably benign	Het
Slc12a5	A	T	2: 164,824,728 (GRCm39)		probably benign	Het
Slc7a3	T	C	X: 100,126,439 (GRCm39)	E222G	probably benign	Het
Stox1	A	T	10: 62,499,826 (GRCm39)	H911Q	probably benign	Het
Sult3a2	A	T	10: 33,642,435 (GRCm39)	N289K	probably benign	Het
Supt20	A	G	3: 54,622,945 (GRCm39)		probably benign	Het
Tchh	A	G	3: 93,351,385 (GRCm39)	E275G	unknown	Het
Tectb	A	T	19: 55,179,943 (GRCm39)	N263I	probably damaging	Het
Tsga10	C	T	1: 37,800,066 (GRCm39)	R608Q	possibly damaging	Het
Ttyh3	A	G	5: 140,615,219 (GRCm39)	Y390H	probably damaging	Het
Utf1	C	A	7: 139,523,929 (GRCm39)	S48*	probably null	Het
Zfp358	G	A	8: 3,546,786 (GRCm39)	G456D	probably benign	Het
Zup1	A	G	10: 33,806,150 (GRCm39)		probably null	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
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
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

Posted On

2015-04-16