Incidental Mutation 'IGL01940:Dimt1'
ID 180859
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: 0.946) question?
Stock # IGL01940
Quality Score
Status
Chromosome 13
Chromosomal Location 107083635-107096732 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 107085206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022203] [ENSMUST00000224052]
AlphaFold Q9D0D4
Predicted Effect probably benign
Transcript: ENSMUST00000022203
SMART Domains Protein: ENSMUSP00000022203
Gene: ENSMUSG00000021692

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,517,661 (GRCm39) probably benign Het
Ahnak A T 19: 8,983,921 (GRCm39) D1735V probably benign Het
Alkbh3 G A 2: 93,811,940 (GRCm39) T231I probably damaging Het
Ap4e1 T C 2: 126,885,431 (GRCm39) V344A probably damaging Het
Brip1 T A 11: 85,955,792 (GRCm39) D907V probably benign Het
Clca3a1 A T 3: 144,452,737 (GRCm39) M582K probably benign Het
Csf2 G T 11: 54,140,351 (GRCm39) P29H probably damaging Het
Cyp2d26 C T 15: 82,676,758 (GRCm39) R196H probably benign Het
Dagla A G 19: 10,229,535 (GRCm39) V575A probably benign Het
Ei24 A T 9: 36,693,687 (GRCm39) F288L probably damaging Het
Fam107a T C 14: 8,298,766 (GRCm38) H120R probably benign Het
Fancl G T 11: 26,409,752 (GRCm39) V203F probably damaging Het
Fgd6 T A 10: 93,925,512 (GRCm39) probably null Het
Flrt2 A G 12: 95,747,012 (GRCm39) Y450C probably damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Ift122 A G 6: 115,864,332 (GRCm39) probably benign Het
Kcnk13 A G 12: 100,027,683 (GRCm39) S253G probably benign Het
Lcp1 A T 14: 75,453,805 (GRCm39) N469I probably benign Het
Lrrc24 T C 15: 76,600,257 (GRCm39) Y294C probably damaging Het
Odam C A 5: 88,035,192 (GRCm39) S52Y possibly damaging Het
Or14j7 C T 17: 38,235,177 (GRCm39) T240I probably damaging Het
Or4a71 T A 2: 89,358,154 (GRCm39) N200I probably damaging Het
Or51i2 A G 7: 103,689,129 (GRCm39) N42S probably damaging Het
Pkd1 G T 17: 24,798,720 (GRCm39) R2676L possibly damaging Het
Plec T C 15: 76,064,529 (GRCm39) D1915G probably damaging Het
Ptbp2 A G 3: 119,519,764 (GRCm39) V9A possibly damaging Het
Ptk2b A G 14: 66,396,062 (GRCm39) I802T probably benign Het
Rabgap1 G T 2: 37,377,079 (GRCm39) A304S probably damaging Het
Sema3f T C 9: 107,560,896 (GRCm39) probably benign Het
Serpinb3a A T 1: 106,973,915 (GRCm39) V332E probably damaging Het
Skil T A 3: 31,165,793 (GRCm39) M370K probably benign Het
Slc25a1 T A 16: 17,744,304 (GRCm39) Y209F probably benign Het
Smim15 A G 13: 108,184,164 (GRCm39) K57E probably damaging Het
Taar3 T A 10: 23,825,855 (GRCm39) C134S probably damaging Het
Tns4 C T 11: 98,959,047 (GRCm39) S684N probably benign Het
Vmn2r58 A G 7: 41,487,071 (GRCm39) V608A probably benign Het
Zbtb26 A T 2: 37,325,987 (GRCm39) C350S possibly damaging Het
Other mutations in Dimt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00703:Dimt1 APN 13 107,089,938 (GRCm39) unclassified probably benign
IGL01959:Dimt1 APN 13 107,089,963 (GRCm39) missense probably benign 0.31
IGL02649:Dimt1 APN 13 107,085,219 (GRCm39) missense probably benign
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 2014-05-07