Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02440:Bmt2'

293421

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 #

IGL02440

Quality Score

Status

Chromosome

Chromosomal Location

13625674-13677965 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13628609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 358 (R358Q)

Ref Sequence

ENSEMBL: ENSMUSP00000040578 (fasta)

Gene Model

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

AlphaFold

Q8BXK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000045235
AA Change: R358Q

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

SMART Domains

Protein: ENSMUSP00000040578
Gene: ENSMUSG00000042742
AA Change: R358Q

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 benign
Transcript: ENSMUST00000203078

SMART Domains

Protein: ENSMUSP00000144704
Gene: ENSMUSG00000042742

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a1	A	G	5: 67,824,777 (GRCm39)		probably benign	Het
C2cd6	A	G	1: 59,114,259 (GRCm39)	I182T	probably benign	Het
Calr3	T	C	8: 73,185,276 (GRCm39)	T100A	probably benign	Het
Cln3	T	C	7: 126,181,954 (GRCm39)	K36R	probably benign	Het
Ddx25	C	T	9: 35,468,974 (GRCm39)		probably benign	Het
Dmxl2	A	T	9: 54,313,899 (GRCm39)	V1677E	probably damaging	Het
Dnah10	A	G	5: 124,850,883 (GRCm39)	E1684G	probably damaging	Het
Dnah9	A	G	11: 65,846,072 (GRCm39)	S2989P	probably damaging	Het
F5	A	T	1: 164,034,635 (GRCm39)	T1845S	possibly damaging	Het
Folh1	G	T	7: 86,383,312 (GRCm39)	N478K	probably benign	Het
Gpr22	T	C	12: 31,759,139 (GRCm39)	I328V	probably damaging	Het
Itln1	C	T	1: 171,359,097 (GRCm39)	A128T	probably benign	Het
Itprid1	A	G	6: 55,861,713 (GRCm39)	T97A	possibly damaging	Het
Kank1	A	G	19: 25,410,272 (GRCm39)	K1322R	probably damaging	Het
Klhdc2	A	G	12: 69,350,414 (GRCm39)	Y153C	probably damaging	Het
Lonp2	T	A	8: 87,350,813 (GRCm39)	M1K	probably null	Het
Mtor	T	A	4: 148,630,886 (GRCm39)	M2281K	probably benign	Het
Mtor	T	A	4: 148,576,104 (GRCm39)	N1378K	probably benign	Het
Myo1e	G	A	9: 70,254,022 (GRCm39)	R557H	probably damaging	Het
Nedd4l	T	C	18: 65,296,244 (GRCm39)		probably null	Het
Or2r3	T	C	6: 42,449,100 (GRCm39)	D4G	probably benign	Het
Or2t46	A	T	11: 58,472,035 (GRCm39)	M122L	probably damaging	Het
Or2z9	T	A	8: 72,854,374 (GRCm39)	F257I	probably damaging	Het
Or9i16	A	T	19: 13,865,223 (GRCm39)	M117K	probably damaging	Het
Pcdh18	T	C	3: 49,699,052 (GRCm39)		probably benign	Het
Phldb1	T	C	9: 44,626,700 (GRCm39)	T582A	probably damaging	Het
Plxna2	A	T	1: 194,428,458 (GRCm39)	E509D	probably benign	Het
Poln	A	T	5: 34,286,474 (GRCm39)	D231E	probably damaging	Het
Prex2	G	A	1: 11,223,881 (GRCm39)	R735Q	possibly damaging	Het
Prpf40b	T	C	15: 99,204,747 (GRCm39)	S263P	probably damaging	Het
Sfmbt2	C	T	2: 10,573,194 (GRCm39)	A574V	probably damaging	Het
Slc12a3	T	C	8: 95,058,310 (GRCm39)	I152T	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Svep1	T	C	4: 58,145,293 (GRCm39)	I391V	probably benign	Het
Tbx4	A	G	11: 85,781,720 (GRCm39)	E80G	probably damaging	Het
Vmn2r22	A	G	6: 123,614,364 (GRCm39)	Y409H	probably benign	Het
Zfp691	T	G	4: 119,027,493 (GRCm39)	R246S	probably damaging	Het
Zfp846	T	C	9: 20,499,796 (GRCm39)		probably benign	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
IGL01089:Bmt2	APN	6	13,663,270 (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
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

2015-04-16