Incidental Mutation 'R2157:Dicer1'
ID 234938
Institutional Source Beutler Lab
Gene Symbol Dicer1
Ensembl Gene ENSMUSG00000041415
Gene Name dicer 1, ribonuclease type III
Synonyms D12Ertd7e, Dicer1, 1110006F08Rik
MMRRC Submission 040160-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2157 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 104654001-104718211 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104669208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 1158 (V1158D)
Ref Sequence ENSEMBL: ENSMUSP00000043676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041987]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000041987
AA Change: V1158D

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000043676
Gene: ENSMUSG00000041415
AA Change: V1158D

DomainStartEndE-ValueType
DEXDc 30 233 5.14e-24 SMART
low complexity region 403 419 N/A INTRINSIC
HELICc 449 546 3.15e-10 SMART
Pfam:Dicer_dimer 620 707 1.4e-25 PFAM
low complexity region 713 723 N/A INTRINSIC
PAZ 881 1056 1.67e-48 SMART
Blast:PAZ 1080 1129 2e-8 BLAST
RIBOc 1285 1582 1.83e-35 SMART
RIBOc 1665 1831 5.97e-49 SMART
DSRM 1834 1897 6.89e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222528
Meta Mutation Damage Score 0.1127 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (80/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein possessing an RNA helicase motif containing a DEXH box in its amino terminus and an RNA motif in the carboxy terminus. The encoded protein functions as a ribonuclease and is required by the RNA interference and small temporal RNA (stRNA) pathways to produce the active small RNA component that represses gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mutation of this locus results in arrest of early embryonic development. [provided by MGI curators]
Allele List at MGI

All alleles(25) : Targeted(14) Gene trapped(11)

Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik A T 8: 125,378,168 (GRCm39) probably benign Het
4930590J08Rik T A 6: 91,919,468 (GRCm39) M709K possibly damaging Het
4930590J08Rik A G 6: 91,894,679 (GRCm39) probably null Het
A930011G23Rik T G 5: 99,379,956 (GRCm39) I394L probably damaging Het
Abca13 A C 11: 9,527,170 (GRCm39) M4528L probably damaging Het
Abcb1b G A 5: 8,874,791 (GRCm39) A484T probably benign Het
Actn1 A T 12: 80,219,891 (GRCm39) M660K probably benign Het
Adgra3 G T 5: 50,159,283 (GRCm39) N322K possibly damaging Het
Ahnak A G 19: 8,978,048 (GRCm39) I56V possibly damaging Het
Amotl2 A G 9: 102,607,788 (GRCm39) probably benign Het
Apoa1 T C 9: 46,140,471 (GRCm39) V34A probably damaging Het
Arrdc1 G A 2: 24,816,987 (GRCm39) A113V probably damaging Het
As3mt A G 19: 46,696,231 (GRCm39) D13G probably benign Het
Cald1 A G 6: 34,662,976 (GRCm39) Q13R possibly damaging Het
Ccdc28a G A 10: 18,106,203 (GRCm39) T41I probably benign Het
Ccdc30 A T 4: 119,190,921 (GRCm39) probably benign Het
Cct2 T C 10: 116,898,714 (GRCm39) probably benign Het
Cdh12 T C 15: 21,583,873 (GRCm39) I571T possibly damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Ckm T C 7: 19,155,279 (GRCm39) S372P probably benign Het
Comp C T 8: 70,832,220 (GRCm39) Q554* probably null Het
Csf2ra T C 19: 61,215,509 (GRCm39) T70A probably benign Het
Csmd3 T C 15: 47,559,183 (GRCm39) E2256G probably damaging Het
Dner A G 1: 84,361,659 (GRCm39) F650S possibly damaging Het
Dnm3 T C 1: 162,135,462 (GRCm39) N437S possibly damaging Het
Dpy19l2 T C 9: 24,592,076 (GRCm39) I176V probably benign Het
Dpy19l2 A T 9: 24,495,928 (GRCm39) C597S probably benign Het
Edf1 T C 2: 25,448,043 (GRCm39) probably null Het
Eif1ad16 A T 12: 87,985,481 (GRCm39) S21T unknown Het
Enpp3 A G 10: 24,652,776 (GRCm39) F727S probably damaging Het
Epb42 C T 2: 120,852,243 (GRCm39) M583I probably benign Het
Foxred1 A G 9: 35,116,659 (GRCm39) F117S probably damaging Het
Fstl5 T A 3: 76,615,372 (GRCm39) M811K possibly damaging Het
Gm5117 A T 8: 32,228,222 (GRCm39) noncoding transcript Het
Gpm6a T C 8: 55,511,833 (GRCm39) S236P probably damaging Het
Grik1 G A 16: 87,853,012 (GRCm39) A57V probably damaging Het
Hdgfl2 G A 17: 56,405,691 (GRCm39) V476I possibly damaging Het
Il17b G T 18: 61,823,439 (GRCm39) W91L probably damaging Het
Jph4 C A 14: 55,350,984 (GRCm39) R344L probably benign Het
Map3k21 A G 8: 126,664,005 (GRCm39) D522G probably benign Het
Mast2 A G 4: 116,179,480 (GRCm39) L398S probably damaging Het
Mbtd1 A G 11: 93,801,214 (GRCm39) T132A probably benign Het
Mbtps1 G T 8: 120,269,466 (GRCm39) T208K probably benign Het
Mr1 A G 1: 155,022,376 (GRCm39) probably null Het
Mthfsd G A 8: 121,828,240 (GRCm39) L140F probably damaging Het
Mybpc2 C G 7: 44,159,269 (GRCm39) D594H possibly damaging Het
Nalcn T C 14: 123,647,164 (GRCm39) M570V probably benign Het
Ncam2 T C 16: 81,287,277 (GRCm39) I397T probably damaging Het
Ndufs4 C T 13: 114,453,514 (GRCm39) V75I probably damaging Het
Nek4 T A 14: 30,701,925 (GRCm39) probably null Het
Nfatc1 G T 18: 80,679,060 (GRCm39) A762D possibly damaging Het
Nhsl3 C T 4: 129,117,917 (GRCm39) R249H possibly damaging Het
Npc1 A G 18: 12,324,866 (GRCm39) I1209T probably damaging Het
Or10k2 T C 8: 84,268,250 (GRCm39) I159T probably benign Het
Or4c11 A T 2: 88,695,213 (GRCm39) N88I probably benign Het
Pak5 T C 2: 135,942,877 (GRCm39) D421G probably damaging Het
Pias1 A G 9: 62,820,112 (GRCm39) V285A possibly damaging Het
Pigg T A 5: 108,466,755 (GRCm39) I212N probably damaging Het
Plcd3 A T 11: 102,961,974 (GRCm39) C711S probably benign Het
Plscr5 G A 9: 92,080,550 (GRCm39) R12K probably benign Het
Plxna4 T C 6: 32,493,909 (GRCm39) I236V probably benign Het
Ppp1r26 T C 2: 28,342,370 (GRCm39) F667L probably benign Het
Prkx A G X: 76,814,920 (GRCm39) F247L probably benign Het
Qpct G A 17: 79,378,115 (GRCm39) R95Q probably benign Het
Ralgapb G T 2: 158,279,392 (GRCm39) M159I probably benign Het
Rnf145 T C 11: 44,445,997 (GRCm39) L277P probably damaging Het
Scn9a A G 2: 66,366,669 (GRCm39) S705P probably damaging Het
Slc4a8 A G 15: 100,704,254 (GRCm39) T750A probably damaging Het
Slc66a1 A T 4: 139,029,166 (GRCm39) V106D probably damaging Het
Syne2 A G 12: 76,141,230 (GRCm39) E6114G probably damaging Het
Tat T C 8: 110,724,236 (GRCm39) M375T probably damaging Het
Tex10 C T 4: 48,436,522 (GRCm39) probably benign Het
Tmprss11e T C 5: 86,861,587 (GRCm39) K320E probably benign Het
Tnr T C 1: 159,685,840 (GRCm39) I357T probably damaging Het
Vmn1r229 A T 17: 21,035,638 (GRCm39) R294S possibly damaging Het
Vmn2r116 G A 17: 23,620,443 (GRCm39) D726N probably damaging Het
Vpreb1b T A 16: 17,798,934 (GRCm39) L140* probably null Het
Wfs1 G A 5: 37,125,286 (GRCm39) P535L probably damaging Het
Xdh A G 17: 74,229,532 (GRCm39) L307P probably damaging Het
Zfp160 A G 17: 21,241,090 (GRCm39) S53G probably benign Het
Zfp319 A G 8: 96,054,659 (GRCm39) C515R probably damaging Het
Zfp747 A G 7: 126,974,929 (GRCm39) F24L possibly damaging Het
Zzef1 A T 11: 72,739,460 (GRCm39) probably benign Het
Other mutations in Dicer1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00943:Dicer1 APN 12 104,663,031 (GRCm39) missense possibly damaging 0.93
IGL01061:Dicer1 APN 12 104,672,586 (GRCm39) missense probably null 0.75
IGL01527:Dicer1 APN 12 104,657,869 (GRCm39) nonsense probably null
IGL01597:Dicer1 APN 12 104,671,469 (GRCm39) nonsense probably null
IGL01636:Dicer1 APN 12 104,688,500 (GRCm39) missense probably damaging 1.00
IGL01717:Dicer1 APN 12 104,669,046 (GRCm39) nonsense probably null
IGL01765:Dicer1 APN 12 104,672,999 (GRCm39) missense probably damaging 1.00
IGL01871:Dicer1 APN 12 104,670,439 (GRCm39) missense probably damaging 1.00
IGL02316:Dicer1 APN 12 104,668,812 (GRCm39) missense probably damaging 1.00
IGL02317:Dicer1 APN 12 104,663,279 (GRCm39) missense probably damaging 1.00
IGL02539:Dicer1 APN 12 104,663,294 (GRCm39) missense probably damaging 0.97
IGL02544:Dicer1 APN 12 104,681,091 (GRCm39) missense probably damaging 1.00
IGL02664:Dicer1 APN 12 104,671,388 (GRCm39) missense probably damaging 1.00
IGL02667:Dicer1 APN 12 104,681,165 (GRCm39) missense probably damaging 1.00
IGL03353:Dicer1 APN 12 104,679,366 (GRCm39) missense probably damaging 1.00
IGL03377:Dicer1 APN 12 104,678,456 (GRCm39) missense probably damaging 0.98
everest UTSW 12 104,671,387 (GRCm39) missense probably damaging 1.00
PIT4480001:Dicer1 UTSW 12 104,662,803 (GRCm39) missense probably benign
R0032:Dicer1 UTSW 12 104,671,057 (GRCm39) nonsense probably null
R0032:Dicer1 UTSW 12 104,671,057 (GRCm39) nonsense probably null
R0219:Dicer1 UTSW 12 104,658,384 (GRCm39) critical splice donor site probably null
R0242:Dicer1 UTSW 12 104,668,710 (GRCm39) missense probably benign 0.02
R0242:Dicer1 UTSW 12 104,668,710 (GRCm39) missense probably benign 0.02
R0385:Dicer1 UTSW 12 104,670,433 (GRCm39) missense probably damaging 1.00
R0402:Dicer1 UTSW 12 104,697,323 (GRCm39) missense probably benign 0.04
R0426:Dicer1 UTSW 12 104,668,801 (GRCm39) missense probably damaging 1.00
R0453:Dicer1 UTSW 12 104,668,889 (GRCm39) missense probably benign
R0502:Dicer1 UTSW 12 104,671,319 (GRCm39) missense probably damaging 1.00
R0507:Dicer1 UTSW 12 104,657,917 (GRCm39) missense probably damaging 1.00
R0511:Dicer1 UTSW 12 104,669,100 (GRCm39) missense possibly damaging 0.95
R0523:Dicer1 UTSW 12 104,668,750 (GRCm39) missense probably damaging 1.00
R0559:Dicer1 UTSW 12 104,672,560 (GRCm39) missense probably damaging 1.00
R0600:Dicer1 UTSW 12 104,673,123 (GRCm39) missense probably damaging 1.00
R0707:Dicer1 UTSW 12 104,673,144 (GRCm39) missense probably damaging 1.00
R1225:Dicer1 UTSW 12 104,657,866 (GRCm39) missense probably damaging 0.98
R1351:Dicer1 UTSW 12 104,695,401 (GRCm39) missense probably damaging 0.99
R1449:Dicer1 UTSW 12 104,695,502 (GRCm39) missense possibly damaging 0.85
R1575:Dicer1 UTSW 12 104,688,228 (GRCm39) critical splice donor site probably null
R1642:Dicer1 UTSW 12 104,679,415 (GRCm39) missense probably damaging 1.00
R1651:Dicer1 UTSW 12 104,675,064 (GRCm39) missense probably damaging 1.00
R1658:Dicer1 UTSW 12 104,666,673 (GRCm39) missense probably benign
R1815:Dicer1 UTSW 12 104,688,410 (GRCm39) missense probably damaging 1.00
R1816:Dicer1 UTSW 12 104,688,410 (GRCm39) missense probably damaging 1.00
R1927:Dicer1 UTSW 12 104,669,143 (GRCm39) missense possibly damaging 0.91
R2113:Dicer1 UTSW 12 104,679,473 (GRCm39) missense probably damaging 1.00
R2129:Dicer1 UTSW 12 104,688,290 (GRCm39) missense probably damaging 1.00
R2202:Dicer1 UTSW 12 104,697,297 (GRCm39) missense possibly damaging 0.95
R2203:Dicer1 UTSW 12 104,697,297 (GRCm39) missense possibly damaging 0.95
R2243:Dicer1 UTSW 12 104,696,447 (GRCm39) missense probably damaging 0.99
R4237:Dicer1 UTSW 12 104,695,487 (GRCm39) missense possibly damaging 0.48
R4419:Dicer1 UTSW 12 104,671,373 (GRCm39) missense probably damaging 1.00
R4482:Dicer1 UTSW 12 104,672,536 (GRCm39) missense probably damaging 1.00
R4564:Dicer1 UTSW 12 104,671,010 (GRCm39) nonsense probably null
R4776:Dicer1 UTSW 12 104,658,705 (GRCm39) missense probably damaging 0.99
R4834:Dicer1 UTSW 12 104,662,850 (GRCm39) missense probably benign 0.44
R4904:Dicer1 UTSW 12 104,679,325 (GRCm39) missense probably benign
R5202:Dicer1 UTSW 12 104,660,990 (GRCm39) nonsense probably null
R5272:Dicer1 UTSW 12 104,670,499 (GRCm39) missense probably damaging 1.00
R5363:Dicer1 UTSW 12 104,669,410 (GRCm39) missense probably damaging 1.00
R5717:Dicer1 UTSW 12 104,671,387 (GRCm39) missense probably damaging 1.00
R6381:Dicer1 UTSW 12 104,662,721 (GRCm39) missense probably benign 0.00
R6479:Dicer1 UTSW 12 104,662,982 (GRCm39) missense probably damaging 0.97
R6956:Dicer1 UTSW 12 104,697,282 (GRCm39) missense probably damaging 1.00
R7234:Dicer1 UTSW 12 104,675,108 (GRCm39) missense probably damaging 1.00
R7401:Dicer1 UTSW 12 104,678,537 (GRCm39) missense probably benign
R7407:Dicer1 UTSW 12 104,688,610 (GRCm39) nonsense probably null
R7471:Dicer1 UTSW 12 104,660,969 (GRCm39) missense probably damaging 1.00
R7699:Dicer1 UTSW 12 104,671,429 (GRCm39) missense probably damaging 1.00
R7768:Dicer1 UTSW 12 104,672,956 (GRCm39) missense probably damaging 0.99
R7831:Dicer1 UTSW 12 104,675,059 (GRCm39) missense probably damaging 1.00
R7998:Dicer1 UTSW 12 104,670,328 (GRCm39) missense probably damaging 1.00
R8010:Dicer1 UTSW 12 104,658,391 (GRCm39) missense probably damaging 0.99
R8061:Dicer1 UTSW 12 104,669,077 (GRCm39) nonsense probably null
R8213:Dicer1 UTSW 12 104,668,952 (GRCm39) missense probably benign 0.00
R8261:Dicer1 UTSW 12 104,657,865 (GRCm39) missense probably damaging 1.00
R8419:Dicer1 UTSW 12 104,668,936 (GRCm39) missense probably benign 0.00
R8708:Dicer1 UTSW 12 104,694,704 (GRCm39) missense possibly damaging 0.65
R8851:Dicer1 UTSW 12 104,690,300 (GRCm39) missense possibly damaging 0.76
R9220:Dicer1 UTSW 12 104,679,415 (GRCm39) missense probably damaging 1.00
R9371:Dicer1 UTSW 12 104,670,991 (GRCm39) missense probably damaging 1.00
R9387:Dicer1 UTSW 12 104,695,499 (GRCm39) missense possibly damaging 0.48
R9505:Dicer1 UTSW 12 104,697,297 (GRCm39) missense possibly damaging 0.95
R9636:Dicer1 UTSW 12 104,688,406 (GRCm39) nonsense probably null
R9682:Dicer1 UTSW 12 104,672,484 (GRCm39) missense probably damaging 1.00
X0018:Dicer1 UTSW 12 104,663,193 (GRCm39) missense probably benign 0.00
Z1176:Dicer1 UTSW 12 104,697,279 (GRCm39) missense probably null 0.97
Predicted Primers PCR Primer
(F):5'- TAGCGTTCCCATCAAGGTAC -3'
(R):5'- AACTCCTCGTTGGCTGAGAG -3'

Sequencing Primer
(F):5'- ACTCAGTAGAGGACATTCATTGCTGG -3'
(R):5'- CCTCGTTGGCTGAGAGTGATAATTAC -3'
Posted On 2014-10-01