Incidental Mutation 'IGL01089:Bmt2'
ID51285
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmt2
Ensembl Gene ENSMUSG00000042742
Gene Namebase methyltransferase of 25S rRNA 2
SynonymsB630005N14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.216) question?
Stock #IGL01089
Quality Score
Status
Chromosome6
Chromosomal Location13625673-13677966 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 13663271 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016K19Rik A G 11: 76,003,337 E180G possibly damaging Het
Actr8 T C 14: 29,988,335 L353S probably damaging Het
Adgrf2 G A 17: 42,710,158 P592S probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Afap1l2 A C 19: 56,913,411 probably null Het
Asnsd1 G A 1: 53,348,277 P64S probably damaging Het
Clca3b A T 3: 144,823,522 V797D probably benign Het
Cog2 T C 8: 124,545,243 S499P probably benign Het
Cyp27a1 A T 1: 74,731,938 Y94F possibly damaging Het
D430042O09Rik A G 7: 125,795,313 E187G probably damaging Het
D630045J12Rik A G 6: 38,136,963 S1765P probably benign Het
Fam149a A G 8: 45,348,527 L519P possibly damaging Het
Fam171a2 G A 11: 102,437,848 A695V possibly damaging Het
Fat1 T A 8: 45,017,857 V1566E probably damaging Het
Flvcr1 T G 1: 191,013,390 N361H probably damaging Het
Gm1110 T C 9: 26,881,860 N540S probably benign Het
Kcns3 T A 12: 11,091,571 T376S possibly damaging Het
Krt32 A G 11: 100,087,779 S150P probably benign Het
Lrtm2 C T 6: 119,320,792 R96Q possibly damaging Het
Mctp1 A G 13: 77,020,798 E838G probably damaging Het
Mios T C 6: 8,234,363 probably null Het
Olfr338 A T 2: 36,377,166 Y130F probably damaging Het
Phldb1 T A 9: 44,707,887 K167* probably null Het
Pkhd1l1 A G 15: 44,483,869 probably benign Het
Plaa A G 4: 94,574,047 V531A probably benign Het
Psmb2 A G 4: 126,684,206 Y59C probably damaging Het
Ptprg A G 14: 12,215,286 H1091R probably damaging Het
Rbm44 T A 1: 91,168,697 V926D possibly damaging Het
Rgma G T 7: 73,409,714 V189L possibly damaging Het
Sbf2 A T 7: 110,348,962 I1227K probably damaging Het
Slc8a1 T C 17: 81,648,281 T443A probably damaging Het
Slc8a1 A G 17: 81,388,881 V896A probably damaging Het
Taf2 T C 15: 55,016,581 M1120V probably benign Het
Ugt2b34 C T 5: 86,906,326 V199I probably benign Het
Unc5c C A 3: 141,818,202 probably benign Het
Usp37 G A 1: 74,493,046 R63* probably null Het
Other mutations in Bmt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Bmt2 APN 6 13628753 missense probably damaging 1.00
IGL00901:Bmt2 APN 6 13628749 missense probably damaging 1.00
IGL02164:Bmt2 APN 6 13628879 missense possibly damaging 0.92
IGL02421:Bmt2 APN 6 13628842 missense probably damaging 1.00
IGL02440:Bmt2 APN 6 13628610 missense probably damaging 1.00
IGL02725:Bmt2 APN 6 13628496 missense probably damaging 0.99
R4675:Bmt2 UTSW 6 13663301 missense probably benign
R4745:Bmt2 UTSW 6 13628687 nonsense probably null
R4812:Bmt2 UTSW 6 13677800 missense unknown
R5406:Bmt2 UTSW 6 13677832 start codon destroyed probably null
R8296:Bmt2 UTSW 6 13628673 missense probably damaging 1.00
Posted On2013-06-21