Incidental Mutation 'R5029:Dimt1'
ID 391577
Institutional Source Beutler Lab
Gene Symbol Dimt1
Ensembl Gene ENSMUSG00000021692
Gene Name DIM1 rRNA methyltransferase and ribosome maturation factor
Synonyms 1500031M22Rik
MMRRC Submission 042620-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # R5029 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 107083635-107096732 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107093630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 274 (D274G)
Ref Sequence ENSEMBL: ENSMUSP00000022203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022203] [ENSMUST00000022204] [ENSMUST00000122233] [ENSMUST00000159772] [ENSMUST00000224052]
AlphaFold Q9D0D4
Predicted Effect probably null
Transcript: ENSMUST00000022203
AA Change: D274G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000022203
Gene: ENSMUSG00000021692
AA Change: D274G

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 probably benign
Transcript: ENSMUST00000022204
SMART Domains Protein: ENSMUSP00000022204
Gene: ENSMUSG00000021693

DomainStartEndE-ValueType
low complexity region 73 85 N/A INTRINSIC
low complexity region 159 183 N/A INTRINSIC
KISc 220 560 6.56e-147 SMART
low complexity region 613 625 N/A INTRINSIC
coiled coil region 660 698 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122233
SMART Domains Protein: ENSMUSP00000112715
Gene: ENSMUSG00000021693

DomainStartEndE-ValueType
low complexity region 46 58 N/A INTRINSIC
low complexity region 132 156 N/A INTRINSIC
KISc 193 533 4.33e-147 SMART
low complexity region 542 556 N/A INTRINSIC
low complexity region 624 636 N/A INTRINSIC
coiled coil region 671 709 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159772
SMART Domains Protein: ENSMUSP00000125644
Gene: ENSMUSG00000021693

DomainStartEndE-ValueType
low complexity region 73 85 N/A INTRINSIC
low complexity region 159 183 N/A INTRINSIC
KISc 220 560 4.33e-147 SMART
low complexity region 569 583 N/A INTRINSIC
low complexity region 651 663 N/A INTRINSIC
coiled coil region 698 736 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223870
Predicted Effect probably benign
Transcript: ENSMUST00000224052
Meta Mutation Damage Score 0.1243 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 97% (61/63)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 T A 13: 111,392,127 (GRCm39) M154K probably benign Het
Ank T C 15: 27,590,439 (GRCm39) V341A probably benign Het
Bnip3 T A 7: 138,499,848 (GRCm39) probably benign Het
C1galt1 A G 6: 7,863,931 (GRCm39) K4E possibly damaging Het
Cbs T A 17: 31,834,456 (GRCm39) Q511L possibly damaging Het
Ccdc117 T C 11: 5,484,897 (GRCm39) H109R possibly damaging Het
Cdh4 T A 2: 179,523,742 (GRCm39) V440D possibly damaging Het
Cnot4 T C 6: 35,054,962 (GRCm39) N109S probably damaging Het
Dact2 A T 17: 14,416,114 (GRCm39) S695R probably benign Het
Defa21 A T 8: 21,516,381 (GRCm39) E75V probably damaging Het
Dstyk G T 1: 132,377,062 (GRCm39) V223L probably benign Het
Dync1h1 T A 12: 110,584,444 (GRCm39) S616T possibly damaging Het
Fer1l6 A T 15: 58,515,769 (GRCm39) I1619F probably benign Het
Gm4744 T A 6: 40,926,341 (GRCm39) Y83F probably null Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Hpx T G 7: 105,240,971 (GRCm39) Y434S probably damaging Het
Ints4 A G 7: 97,158,981 (GRCm39) D451G probably benign Het
Itgb4 A T 11: 115,879,417 (GRCm39) probably benign Het
Jph1 T A 1: 17,161,615 (GRCm39) N349I possibly damaging Het
Klrg1 A G 6: 122,259,694 (GRCm39) L26P probably benign Het
M1ap A C 6: 82,980,813 (GRCm39) D233A probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Mycbp2 A G 14: 103,393,946 (GRCm39) S2762P probably benign Het
Myh11 T A 16: 14,023,489 (GRCm39) Q1556L probably damaging Het
N4bp2 A G 5: 65,972,123 (GRCm39) D1428G probably damaging Het
Ndc80 A C 17: 71,815,760 (GRCm39) C342G probably benign Het
Nxn A C 11: 76,165,356 (GRCm39) Y199* probably null Het
Or6c206 T A 10: 129,097,707 (GRCm39) N292K probably benign Het
Or7c19 C T 8: 85,957,835 (GRCm39) A237V probably benign Het
Or8j3b A G 2: 86,205,234 (GRCm39) I174T probably damaging Het
Pacs1 A G 19: 5,192,299 (GRCm39) F691L probably benign Het
Pcdhga12 T C 18: 37,899,864 (GRCm39) V232A probably benign Het
Pik3cb A T 9: 98,936,113 (GRCm39) M773K probably damaging Het
Plxnb1 T C 9: 108,943,723 (GRCm39) Y1937H probably damaging Het
Ppfia2 C A 10: 106,693,304 (GRCm39) T603N probably benign Het
Psg22 A G 7: 18,453,662 (GRCm39) Y119C probably damaging Het
Saraf G T 8: 34,628,412 (GRCm39) R86L probably damaging Het
Sh3bgrl2 T C 9: 83,430,542 (GRCm39) S11P possibly damaging Het
Slc39a4 C T 15: 76,498,283 (GRCm39) D385N probably damaging Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Stpg3 T C 2: 25,104,576 (GRCm39) N13S probably damaging Het
Taf1a T A 1: 183,177,273 (GRCm39) D50E possibly damaging Het
Tlr1 T A 5: 65,083,024 (GRCm39) N518Y probably damaging Het
Tnik G A 3: 28,719,993 (GRCm39) probably null Het
Tomm70a T A 16: 56,942,514 (GRCm39) L97Q probably benign Het
Vmn2r97 T A 17: 19,168,173 (GRCm39) V809E probably damaging Het
Vps13d T C 4: 144,882,852 (GRCm39) I914V probably benign Het
Zfyve26 A T 12: 79,333,097 (GRCm39) H291Q probably damaging Het
Zmynd15 G T 11: 70,353,387 (GRCm39) C334F 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
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
Predicted Primers PCR Primer
(F):5'- CCTGGTTAGGTGAATATGTGTCAAG -3'
(R):5'- TGAAAGTGCTATGCAATAACCCAC -3'

Sequencing Primer
(F):5'- AGGTGAATATGTGTCAAGAATGTATG -3'
(R):5'- CCACCAGGTAGCTGCTTAGAAG -3'
Posted On 2016-06-06