Incidental Mutation 'R5679:Dimt1'
ID 442943
Institutional Source Beutler Lab
Gene Symbol Dimt1
Ensembl Gene ENSMUSG00000021692
Gene Name DIM1 rRNA methyltransferase and ribosome maturation factor
Synonyms 1500031M22Rik
MMRRC Submission 043176-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # R5679 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 107083635-107096732 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107084108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 32 (T32A)
Ref Sequence ENSEMBL: ENSMUSP00000022203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022203] [ENSMUST00000224052]
AlphaFold Q9D0D4
Predicted Effect possibly damaging
Transcript: ENSMUST00000022203
AA Change: T32A

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022203
Gene: ENSMUSG00000021692
AA Change: T32A

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 unknown
Transcript: ENSMUST00000224052
AA Change: T32A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225875
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3a1 G A 11: 61,107,994 (GRCm39) R346Q probably benign Het
Bcat1 A T 6: 144,953,474 (GRCm39) F304L probably damaging Het
Ccdc178 T G 18: 22,200,486 (GRCm39) K439N probably benign Het
Cdkn2a T C 4: 89,195,098 (GRCm39) D84G possibly damaging Het
Chst8 T A 7: 34,374,729 (GRCm39) H370L probably damaging Het
Dph6 T C 2: 114,398,422 (GRCm39) I162V probably benign Het
E230025N22Rik C T 18: 36,818,435 (GRCm39) G465R possibly damaging Het
Fam3d T C 14: 8,349,305 (GRCm38) E215G probably damaging Het
Fbxw7 T A 3: 84,884,794 (GRCm39) N612K probably damaging Het
Gpr179 A G 11: 97,227,571 (GRCm39) V1528A probably benign Het
Gucy2g T A 19: 55,219,511 (GRCm39) K370N possibly damaging Het
Ipo13 A T 4: 117,752,029 (GRCm39) W903R probably damaging Het
Itgax T A 7: 127,734,162 (GRCm39) H311Q probably benign Het
Kmt2d T C 15: 98,752,153 (GRCm39) probably benign Het
Lox T C 18: 52,661,989 (GRCm39) N138S probably benign Het
Mre11a T A 9: 14,698,215 (GRCm39) I21N probably damaging Het
Ncan T G 8: 70,565,276 (GRCm39) Y217S probably damaging Het
Nfil3 A G 13: 53,122,527 (GRCm39) F126L possibly damaging Het
Nfu1 T C 6: 86,996,379 (GRCm39) V110A probably damaging Het
Or12e8 T C 2: 87,187,889 (GRCm39) F34L possibly damaging Het
Or5e1 A G 7: 108,354,203 (GRCm39) I47V probably damaging Het
Or5g9 A T 2: 85,552,390 (GRCm39) I214F probably damaging Het
Palld T C 8: 62,137,979 (GRCm39) Q592R possibly damaging Het
Pcdhac1 T A 18: 37,225,530 (GRCm39) L781Q probably damaging Het
Rcl1 A G 19: 29,098,658 (GRCm39) probably null Het
Saxo1 C T 4: 86,363,272 (GRCm39) V404I possibly damaging Het
Scrt1 T A 15: 76,403,262 (GRCm39) T243S unknown Het
Slc22a30 G T 19: 8,313,135 (GRCm39) T550K possibly damaging Het
Strc A G 2: 121,198,581 (GRCm39) S1437P probably benign Het
Tecpr1 T A 5: 144,144,241 (GRCm39) I654F possibly damaging Het
Tfcp2l1 A G 1: 118,596,377 (GRCm39) M371V probably benign Het
Vmn2r11 T C 5: 109,202,708 (GRCm39) N123S probably benign Het
Wdr81 T C 11: 75,343,749 (GRCm39) D506G probably damaging Het
Xylt1 A G 7: 117,242,877 (GRCm39) D640G probably damaging Het
Zfp148 T G 16: 33,316,156 (GRCm39) M276R probably damaging Het
Zfp329 G A 7: 12,543,958 (GRCm39) T522I probably 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
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
R9507:Dimt1 UTSW 13 107,093,656 (GRCm39) missense probably benign
R9514:Dimt1 UTSW 13 107,093,636 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- GGATGGATGGACTCAAAGATACATCC -3'
(R):5'- TGTCAGGCACCCTATCTTGG -3'

Sequencing Primer
(F):5'- GATGGACTCAAAGATACATCCCAACC -3'
(R):5'- TGCGGTCGAGCATATCAC -3'
Posted On 2016-11-09