Incidental Mutation 'IGL02649:Dimt1'
ID 302058
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dimt1
Ensembl Gene ENSMUSG00000021692
Gene Name DIM1 rRNA methyltransferase and ribosome maturation factor
Synonyms 1500031M22Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.942) question?
Stock # IGL02649
Quality Score
Status
Chromosome 13
Chromosomal Location 107083635-107096732 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 107085219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 55 (R55K)
Ref Sequence ENSEMBL: ENSMUSP00000022203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022203] [ENSMUST00000224052]
AlphaFold Q9D0D4
Predicted Effect probably benign
Transcript: ENSMUST00000022203
AA Change: R55K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022203
Gene: ENSMUSG00000021692
AA Change: R55K

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
rADc 44 213 2.07e-86 SMART
Blast:rADc 241 276 2e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223851
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223870
Predicted Effect probably benign
Transcript: ENSMUST00000224052
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225875
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a methyltransferase that is responsible for dimethylation of adjacent adenosines near the 18S rRNA decoding site. The encoded protein is essential for ribosome biogenesis, although its catalytic activity is not involved in the process. The yeast ortholog of this protein functions in the cytoplasm while this protein functions in the nucleus. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat A T 11: 116,486,472 (GRCm39) I4F probably benign Het
Adamts17 T G 7: 66,499,626 (GRCm39) probably benign Het
Adcy1 A T 11: 7,117,156 (GRCm39) M1008L probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Atrnl1 T G 19: 57,638,873 (GRCm39) probably benign Het
Brd3 T A 2: 27,344,362 (GRCm39) E456V probably damaging Het
Cabin1 A T 10: 75,573,252 (GRCm39) L712H probably damaging Het
Ccna1 T A 3: 54,961,807 (GRCm39) T38S probably damaging Het
Chadl T A 15: 81,580,059 (GRCm39) I59F probably benign Het
Chmp3 T C 6: 71,529,417 (GRCm39) M27T possibly damaging Het
Clcn1 C T 6: 42,275,763 (GRCm39) T295I probably damaging Het
Col6a6 A G 9: 105,604,369 (GRCm39) probably null Het
Dennd2a T A 6: 39,447,290 (GRCm39) H776L probably benign Het
Dlg5 T A 14: 24,196,319 (GRCm39) D1626V probably damaging Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Hectd4 T C 5: 121,487,465 (GRCm39) S3487P possibly damaging Het
Hivep1 T C 13: 42,310,787 (GRCm39) V1009A possibly damaging Het
Ifna12 A T 4: 88,521,091 (GRCm39) V152E probably damaging Het
Igf2r A T 17: 12,930,974 (GRCm39) C903S possibly damaging Het
Ipo9 T C 1: 135,313,672 (GRCm39) D1002G possibly damaging Het
Isyna1 T C 8: 71,048,904 (GRCm39) S328P probably damaging Het
Itprid2 T C 2: 79,472,303 (GRCm39) probably benign Het
Lamc1 G A 1: 153,122,788 (GRCm39) T764I possibly damaging Het
Lta4h T C 10: 93,308,831 (GRCm39) V377A probably benign Het
Lyz2 C T 10: 117,118,090 (GRCm39) V20I probably benign Het
Myo3a A T 2: 22,328,418 (GRCm39) L329F probably benign Het
Nlgn2 T C 11: 69,716,628 (GRCm39) T638A probably benign Het
Oasl2 A G 5: 115,035,753 (GRCm39) T10A probably damaging Het
Or14j8 A T 17: 38,263,864 (GRCm39) F17Y probably damaging Het
Or5k1 T A 16: 58,617,713 (GRCm39) R165S probably damaging Het
Pde10a A T 17: 9,172,604 (GRCm39) N296I probably damaging Het
Plb1 A G 5: 32,519,912 (GRCm39) I1385M probably benign Het
Pld1 T C 3: 28,141,378 (GRCm39) V647A probably damaging Het
Pnp T C 14: 51,185,303 (GRCm39) probably benign Het
Ppl A T 16: 4,905,327 (GRCm39) I1656K probably damaging Het
Rimbp3 G T 16: 17,027,472 (GRCm39) E299* probably null Het
Sbsn C A 7: 30,452,683 (GRCm39) A566D probably damaging Het
Sh3rf1 T A 8: 61,816,225 (GRCm39) M494K probably damaging Het
Slc2a2 T A 3: 28,772,885 (GRCm39) V226E probably damaging Het
Smarca2 T A 19: 26,617,986 (GRCm39) I339N possibly damaging Het
Tenm2 G T 11: 36,097,912 (GRCm39) S445R possibly damaging Het
Tlcd5 C A 9: 43,022,783 (GRCm39) K190N probably benign Het
Tnip2 A T 5: 34,671,075 (GRCm39) L56Q probably damaging Het
Trpv1 C T 11: 73,141,612 (GRCm39) S485F probably damaging Het
Vmn2r23 T C 6: 123,681,437 (GRCm39) M115T probably benign Het
Zbtb38 G A 9: 96,568,672 (GRCm39) T804I probably damaging Het
Zfhx3 T C 8: 109,520,167 (GRCm39) S430P possibly damaging Het
Other mutations in Dimt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00703:Dimt1 APN 13 107,089,938 (GRCm39) unclassified probably benign
IGL01940:Dimt1 APN 13 107,085,206 (GRCm39) splice site probably benign
IGL01959:Dimt1 APN 13 107,089,963 (GRCm39) missense probably benign 0.31
IGL02811:Dimt1 APN 13 107,084,175 (GRCm39) splice site probably benign
R0462:Dimt1 UTSW 13 107,085,264 (GRCm39) missense possibly damaging 0.71
R1175:Dimt1 UTSW 13 107,086,193 (GRCm39) splice site probably benign
R1450:Dimt1 UTSW 13 107,084,151 (GRCm39) missense probably benign 0.00
R1616:Dimt1 UTSW 13 107,089,958 (GRCm39) missense possibly damaging 0.60
R4647:Dimt1 UTSW 13 107,084,163 (GRCm39) missense probably benign 0.10
R5029:Dimt1 UTSW 13 107,093,630 (GRCm39) missense probably null 0.00
R5679:Dimt1 UTSW 13 107,084,108 (GRCm39) missense possibly damaging 0.89
R9507:Dimt1 UTSW 13 107,093,656 (GRCm39) missense probably benign
R9514:Dimt1 UTSW 13 107,093,636 (GRCm39) missense possibly damaging 0.84
Posted On 2015-04-16