Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01089:Bmt2'

51285

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bmt2

Ensembl Gene

ENSMUSG00000042742

Gene Name

base methyltransferase of 25S rRNA 2

Synonyms

B630005N14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

IGL01089

Quality Score

Status

Chromosome

Chromosomal Location

13625674-13677965 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13663270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 76 (M76T)

Ref Sequence

ENSEMBL: ENSMUSP00000144704 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045235] [ENSMUST00000203078]

AlphaFold

Q8BXK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000045235
AA Change: M76T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040578
Gene: ENSMUSG00000042742
AA Change: M76T

Domain	Start	End	E-Value	Type
low complexity region	3	23	N/A	INTRINSIC
Pfam:DUF3321	214	332	1.5e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203078
AA Change: M76T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144704
Gene: ENSMUSG00000042742
AA Change: M76T

Domain	Start	End	E-Value	Type
low complexity region	3	23	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	C	14: 29,710,292 (GRCm39)	L353S	probably damaging	Het
Adgrf2	G	A	17: 43,021,049 (GRCm39)	P592S	probably damaging	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Afap1l2	A	C	19: 56,901,843 (GRCm39)		probably null	Het
Asnsd1	G	A	1: 53,387,436 (GRCm39)	P64S	probably damaging	Het
Clca3b	A	T	3: 144,529,283 (GRCm39)	V797D	probably benign	Het
Cog2	T	C	8: 125,271,982 (GRCm39)	S499P	probably benign	Het
Cyp27a1	A	T	1: 74,771,097 (GRCm39)	Y94F	possibly damaging	Het
D630045J12Rik	A	G	6: 38,113,898 (GRCm39)	S1765P	probably benign	Het
Fam149a	A	G	8: 45,801,564 (GRCm39)	L519P	possibly damaging	Het
Fam171a2	G	A	11: 102,328,674 (GRCm39)	A695V	possibly damaging	Het
Fat1	T	A	8: 45,470,894 (GRCm39)	V1566E	probably damaging	Het
Flvcr1	T	G	1: 190,745,587 (GRCm39)	N361H	probably damaging	Het
Gm1110	T	C	9: 26,793,156 (GRCm39)	N540S	probably benign	Het
Katnip	A	G	7: 125,394,485 (GRCm39)	E187G	probably damaging	Het
Kcns3	T	A	12: 11,141,572 (GRCm39)	T376S	possibly damaging	Het
Krt32	A	G	11: 99,978,605 (GRCm39)	S150P	probably benign	Het
Liat1	A	G	11: 75,894,163 (GRCm39)	E180G	possibly damaging	Het
Lrtm2	C	T	6: 119,297,753 (GRCm39)	R96Q	possibly damaging	Het
Mctp1	A	G	13: 77,168,917 (GRCm39)	E838G	probably damaging	Het
Mios	T	C	6: 8,234,363 (GRCm39)		probably null	Het
Or1j10	A	T	2: 36,267,178 (GRCm39)	Y130F	probably damaging	Het
Phldb1	T	A	9: 44,619,184 (GRCm39)	K167*	probably null	Het
Pkhd1l1	A	G	15: 44,347,265 (GRCm39)		probably benign	Het
Plaa	A	G	4: 94,462,284 (GRCm39)	V531A	probably benign	Het
Psmb2	A	G	4: 126,577,999 (GRCm39)	Y59C	probably damaging	Het
Ptprg	A	G	14: 12,215,286 (GRCm38)	H1091R	probably damaging	Het
Rbm44	T	A	1: 91,096,419 (GRCm39)	V926D	possibly damaging	Het
Rgma	G	T	7: 73,059,462 (GRCm39)	V189L	possibly damaging	Het
Sbf2	A	T	7: 109,948,169 (GRCm39)	I1227K	probably damaging	Het
Slc8a1	T	C	17: 81,955,710 (GRCm39)	T443A	probably damaging	Het
Slc8a1	A	G	17: 81,696,310 (GRCm39)	V896A	probably damaging	Het
Taf2	T	C	15: 54,879,977 (GRCm39)	M1120V	probably benign	Het
Ugt2b34	C	T	5: 87,054,185 (GRCm39)	V199I	probably benign	Het
Unc5c	C	A	3: 141,523,963 (GRCm39)		probably benign	Het
Usp37	G	A	1: 74,532,205 (GRCm39)	R63*	probably null	Het

Other mutations in Bmt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Bmt2	APN	6	13,628,752 (GRCm39)	missense	probably damaging	1.00
IGL00901:Bmt2	APN	6	13,628,748 (GRCm39)	missense	probably damaging	1.00
IGL02164:Bmt2	APN	6	13,628,878 (GRCm39)	missense	possibly damaging	0.92
IGL02421:Bmt2	APN	6	13,628,841 (GRCm39)	missense	probably damaging	1.00
IGL02440:Bmt2	APN	6	13,628,609 (GRCm39)	missense	probably damaging	1.00
IGL02725:Bmt2	APN	6	13,628,495 (GRCm39)	missense	probably damaging	0.99
R4675:Bmt2	UTSW	6	13,663,300 (GRCm39)	missense	probably benign
R4745:Bmt2	UTSW	6	13,628,686 (GRCm39)	nonsense	probably null
R4812:Bmt2	UTSW	6	13,677,799 (GRCm39)	missense	unknown
R5406:Bmt2	UTSW	6	13,677,831 (GRCm39)	start codon destroyed	probably null
R8296:Bmt2	UTSW	6	13,628,672 (GRCm39)	missense	probably damaging	1.00
R8975:Bmt2	UTSW	6	13,630,611 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21