Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02421:Bmt2'

292682

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 #

IGL02421

Quality Score

Status

Chromosome

Chromosomal Location

13625674-13677965 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 13628841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 281 (Q281K)

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: Q281K

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

SMART Domains

Protein: ENSMUSP00000040578
Gene: ENSMUSG00000042742
AA Change: Q281K

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	T	C	2: 154,892,672 (GRCm39)	F117S	probably damaging	Het
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Acacb	A	G	5: 114,361,939 (GRCm39)	T1394A	probably benign	Het
Adam19	A	G	11: 46,028,380 (GRCm39)	N671S	probably damaging	Het
Akap13	A	T	7: 75,367,554 (GRCm39)	N1815I	possibly damaging	Het
Aloxe3	A	G	11: 69,020,872 (GRCm39)	D199G	possibly damaging	Het
Ap1g2	G	A	14: 55,339,859 (GRCm39)	A440V	probably damaging	Het
Celsr3	T	C	9: 108,717,662 (GRCm39)	F2243L	probably damaging	Het
Cenpb	G	A	2: 131,021,601 (GRCm39)	R66C	probably damaging	Het
Chl1	A	T	6: 103,694,541 (GRCm39)	H1121L	probably damaging	Het
Cpb1	T	C	3: 20,306,148 (GRCm39)	Y344C	probably damaging	Het
Cspg5	T	A	9: 110,076,460 (GRCm39)		probably benign	Het
Dnah11	T	C	12: 118,150,637 (GRCm39)	N374D	probably damaging	Het
Dnah3	A	G	7: 119,550,215 (GRCm39)	V3368A	possibly damaging	Het
Eml4	T	C	17: 83,785,321 (GRCm39)	S829P	probably benign	Het
Got2-ps1	T	C	5: 138,362,811 (GRCm39)		noncoding transcript	Het
Hal	T	C	10: 93,339,335 (GRCm39)	C475R	probably damaging	Het
Mapkbp1	C	T	2: 119,850,136 (GRCm39)	P806S	possibly damaging	Het
Mmrn1	A	T	6: 60,921,806 (GRCm39)	T88S	probably benign	Het
Napsa	A	G	7: 44,234,479 (GRCm39)	H237R	probably damaging	Het
Opn5	C	T	17: 42,907,446 (GRCm39)		probably benign	Het
Or1d2	T	C	11: 74,256,017 (GRCm39)	I174T	probably damaging	Het
Or4c110	T	C	2: 88,831,688 (GRCm39)		probably null	Het
Or51f2	T	C	7: 102,526,966 (GRCm39)	I213T	probably damaging	Het
Or56b2	A	G	7: 104,337,740 (GRCm39)	N173D	probably benign	Het
Pira12	T	C	7: 3,899,994 (GRCm39)	N203D	possibly damaging	Het
Polb	C	T	8: 23,130,389 (GRCm39)	G179D	probably damaging	Het
Primpol	G	T	8: 47,060,830 (GRCm39)		probably benign	Het
Prom2	T	A	2: 127,373,802 (GRCm39)		probably null	Het
Psmb10	A	G	8: 106,664,124 (GRCm39)		probably null	Het
Ranbp2	T	G	10: 58,316,376 (GRCm39)	S2365R	probably damaging	Het
Sgce	G	A	6: 4,694,187 (GRCm39)		probably benign	Het
Slc25a34	A	G	4: 141,348,753 (GRCm39)	V237A	probably benign	Het
Slc39a2	A	T	14: 52,131,329 (GRCm39)	T25S	probably benign	Het
Smarca4	T	C	9: 21,550,535 (GRCm39)	C423R	probably damaging	Het
Stt3b	G	A	9: 115,080,920 (GRCm39)		probably benign	Het
Tbl1xr1	A	T	3: 22,257,327 (GRCm39)	I397F	probably damaging	Het
Tie1	A	G	4: 118,343,591 (GRCm39)	V117A	probably damaging	Het
Tmc3	T	C	7: 83,271,952 (GRCm39)	F1035L	probably benign	Het
Trhde	T	A	10: 114,248,366 (GRCm39)	K944N	probably damaging	Het
Vmn1r54	G	A	6: 90,246,133 (GRCm39)	A16T	probably benign	Het
Washc4	T	A	10: 83,415,414 (GRCm39)	N801K	probably damaging	Het
Xylt2	A	G	11: 94,558,588 (GRCm39)	Y523H	possibly damaging	Het
Znfx1	T	C	2: 166,902,000 (GRCm39)	R5G	probably damaging	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
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

2015-04-16