Incidental Mutation 'R5406:Bmt2'
ID 426275
Institutional Source Beutler Lab
Gene Symbol Bmt2
Ensembl Gene ENSMUSG00000042742
Gene Name base methyltransferase of 25S rRNA 2
Synonyms B630005N14Rik
MMRRC Submission 042976-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R5406 (G1)
Quality Score 131
Status Not validated
Chromosome 6
Chromosomal Location 13625674-13677965 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 13677831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000144704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045235] [ENSMUST00000203078]
AlphaFold Q8BXK4
Predicted Effect probably null
Transcript: ENSMUST00000045235
AA Change: M1K
SMART Domains Protein: ENSMUSP00000040578
Gene: ENSMUSG00000042742
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 3 23 N/A INTRINSIC
Pfam:DUF3321 214 332 1.5e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000203078
AA Change: M1K
SMART Domains Protein: ENSMUSP00000144704
Gene: ENSMUSG00000042742
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 3 23 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A T 9: 4,309,387 (GRCm39) V17D probably damaging Het
Abcb1a C A 5: 8,752,946 (GRCm39) Q566K probably damaging Het
Adam26a A T 8: 44,022,141 (GRCm39) C450S probably damaging Het
Adar C T 3: 89,643,418 (GRCm39) P433L probably damaging Het
Aldh1a2 G T 9: 71,162,403 (GRCm39) A151S possibly damaging Het
Arsk T A 13: 76,242,066 (GRCm39) H69L probably benign Het
Atf6b T A 17: 34,872,771 (GRCm39) Y600* probably null Het
Blk C A 14: 63,618,180 (GRCm39) G242V probably damaging Het
Catsperg1 G A 7: 28,884,948 (GRCm39) T891M probably damaging Het
Ccdc32 A C 2: 118,852,560 (GRCm39) S131A possibly damaging Het
Cdh8 A G 8: 99,923,002 (GRCm39) V298A probably damaging Het
Cfap54 T A 10: 92,837,720 (GRCm39) Q1060L probably benign Het
Cfap58 G A 19: 48,017,541 (GRCm39) M800I possibly damaging Het
Cntn5 A T 9: 9,833,465 (GRCm39) V362D probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
G2e3 T C 12: 51,419,449 (GRCm39) S699P probably damaging Het
Gbp4 G T 5: 105,267,387 (GRCm39) Q511K possibly damaging Het
Gdap2 T A 3: 100,098,991 (GRCm39) I361N probably damaging Het
Ino80c T A 18: 24,245,819 (GRCm39) H92L probably benign Het
Lipo4 A G 19: 33,480,618 (GRCm39) V250A probably benign Het
Llgl1 C T 11: 60,604,010 (GRCm39) R1055W probably damaging Het
Lrriq3 T C 3: 154,835,138 (GRCm39) probably null Het
Mmp1a A G 9: 7,467,294 (GRCm39) E290G probably damaging Het
Ncstn A G 1: 171,899,731 (GRCm39) V317A probably benign Het
Nfxl1 G A 5: 72,713,541 (GRCm39) T134I possibly damaging Het
Nup155 A T 15: 8,183,122 (GRCm39) probably null Het
Nup214 C A 2: 31,892,619 (GRCm39) P680T probably damaging Het
Or6c212 G A 10: 129,558,799 (GRCm39) L205F probably damaging Het
Or7h8 A G 9: 20,124,454 (GRCm39) K270E probably benign Het
Or8b12 A G 9: 37,657,943 (GRCm39) N171S probably benign Het
Or8b9 G A 9: 37,766,515 (GRCm39) V134I probably benign Het
Pkd2 T C 5: 104,628,198 (GRCm39) F424S probably damaging Het
Plb1 A G 5: 32,499,259 (GRCm39) D1074G probably damaging Het
Ppm1l T C 3: 69,224,927 (GRCm39) S10P possibly damaging Het
Rnf213 A G 11: 119,331,634 (GRCm39) H2281R probably damaging Het
Rpa2 G T 4: 132,503,559 (GRCm39) A3S probably benign Het
Sardh A G 2: 27,101,096 (GRCm39) V698A possibly damaging Het
Saxo2 A T 7: 82,284,586 (GRCm39) C91S probably benign Het
Slc3a2 T C 19: 8,685,406 (GRCm39) D198G probably damaging Het
Spata31d1d T A 13: 59,876,592 (GRCm39) E314D probably benign Het
Sptlc3 T C 2: 139,388,398 (GRCm39) V130A probably benign Het
Stpg3 C A 2: 25,103,580 (GRCm39) E115* probably null Het
Tbcd T A 11: 121,342,927 (GRCm39) D19E probably benign Het
Xrcc3 T C 12: 111,778,545 (GRCm39) D2G probably damaging Het
Other mutations in Bmt2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Predicted Primers PCR Primer
(F):5'- GTCTTACCTGAAAGCCCCTC -3'
(R):5'- TGCGCTATTGGGAAGACACC -3'

Sequencing Primer
(F):5'- CTCGGTGACAGTGGTCTCAG -3'
(R):5'- TATTGGGAAGACACCGCCCC -3'
Posted On 2016-09-01