Incidental Mutation 'R4776:Dicer1'
ID 367962
Institutional Source Beutler Lab
Gene Symbol Dicer1
Ensembl Gene ENSMUSG00000041415
Gene Name dicer 1, ribonuclease type III
Synonyms D12Ertd7e, Dicer1, 1110006F08Rik
MMRRC Submission 042413-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4776 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 104654001-104718211 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104658705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 1779 (D1779V)
Ref Sequence ENSEMBL: ENSMUSP00000043676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041987]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000041987
AA Change: D1779V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043676
Gene: ENSMUSG00000041415
AA Change: D1779V

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 0.4606 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 98% (94/96)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A T 10: 76,293,346 (GRCm39) M156L probably benign Het
4930470P17Rik C T 2: 170,421,644 (GRCm39) A79T unknown Het
4930522L14Rik A G 5: 109,884,739 (GRCm39) I373T probably benign Het
Amotl1 G A 9: 14,504,669 (GRCm39) Q217* probably null Het
Ankrd28 A T 14: 31,454,011 (GRCm39) C254S probably damaging Het
Ap2a1 A G 7: 44,550,970 (GRCm39) probably benign Het
Arfgef3 A T 10: 18,529,995 (GRCm39) S245T probably benign Het
Atp1b2 A T 11: 69,492,387 (GRCm39) D224E probably damaging Het
Bmal1 A T 7: 112,884,244 (GRCm39) K94I probably damaging Het
Boc G A 16: 44,308,084 (GRCm39) R924W probably damaging Het
Btbd8 C A 5: 107,658,317 (GRCm39) A1117E probably damaging Het
Car14 C T 3: 95,806,185 (GRCm39) G292D probably benign Het
Cenpb T C 2: 131,020,103 (GRCm39) probably benign Het
Ces1b A T 8: 93,789,658 (GRCm39) D423E possibly damaging Het
Cfap54 T A 10: 92,808,556 (GRCm39) N1373I possibly damaging Het
Chrdl2 T C 7: 99,655,748 (GRCm39) probably benign Het
Cic T G 7: 24,982,308 (GRCm39) S12A possibly damaging Het
Csmd2 A T 4: 128,336,685 (GRCm39) Q1421L probably benign Het
D630039A03Rik T C 4: 57,910,452 (GRCm39) H120R possibly damaging Het
Dock9 G T 14: 121,847,509 (GRCm39) H1016N possibly damaging Het
Dxo T C 17: 35,057,974 (GRCm39) L352P probably damaging Het
Eif2b5 T A 16: 20,318,983 (GRCm39) F78I probably damaging Het
Eri2 A G 7: 119,384,169 (GRCm39) probably benign Het
Fbxw7 T G 3: 84,832,996 (GRCm39) L13V possibly damaging Het
Fgf7 T A 2: 125,877,703 (GRCm39) C23* probably null Het
Fubp1 T A 3: 151,927,705 (GRCm39) probably null Het
Gm2663 A T 6: 40,972,887 (GRCm39) I240N probably damaging Het
Gnb1l C T 16: 18,366,846 (GRCm39) Q140* probably null Het
Gnptab G A 10: 88,272,390 (GRCm39) R1010Q probably damaging Het
Gtf2h1 G A 7: 46,472,302 (GRCm39) W544* probably null Het
Gucy2c C T 6: 136,699,512 (GRCm39) E586K probably damaging Het
Hc T A 2: 34,929,746 (GRCm39) E232V probably benign Het
Ifi207 T A 1: 173,557,622 (GRCm39) D372V unknown Het
Igkv8-28 A T 6: 70,121,102 (GRCm39) V15E probably benign Het
Il1rap A G 16: 26,511,549 (GRCm39) S198G possibly damaging Het
Lct A G 1: 128,228,124 (GRCm39) I1123T probably damaging Het
Lhcgr T C 17: 89,050,125 (GRCm39) E467G probably damaging Het
Macf1 C T 4: 123,369,808 (GRCm39) R86K probably benign Het
Maml3 T A 3: 51,763,953 (GRCm39) Q337L probably benign Het
Marchf10 T A 11: 105,280,863 (GRCm39) D474V probably benign Het
Marchf2 G T 17: 33,928,890 (GRCm39) T2K probably damaging Het
Mast1 A G 8: 85,663,822 (GRCm39) probably null Het
Med12l T C 3: 59,140,633 (GRCm39) I868T probably damaging Het
Msrb1 T C 17: 24,959,147 (GRCm39) S100P probably damaging Het
Nlrp4c T C 7: 6,069,125 (GRCm39) L342P probably benign Het
Nrxn3 T A 12: 90,298,730 (GRCm39) V417E possibly damaging Het
Ntng1 T A 3: 109,842,029 (GRCm39) D248V probably damaging Het
Oaz3 T C 3: 94,342,305 (GRCm39) Q117R probably benign Het
Or2a56 A G 6: 42,932,455 (GRCm39) I8V probably benign Het
Or4f58 A G 2: 111,851,276 (GRCm39) Y308H probably benign Het
Or52e2 A G 7: 102,804,621 (GRCm39) L111P probably benign Het
Osbpl3 A C 6: 50,277,953 (GRCm39) S767A probably benign Het
Pafah1b1 A T 11: 74,576,697 (GRCm39) probably benign Het
Pard6b A G 2: 167,940,708 (GRCm39) T232A probably damaging Het
Paxip1 A T 5: 27,970,204 (GRCm39) C596S probably damaging Het
Pnpla6 T C 8: 3,573,818 (GRCm39) V422A probably benign Het
Psmd6 A T 14: 14,120,932 (GRCm38) probably benign Het
Relch T A 1: 105,647,260 (GRCm39) Y683* probably null Het
Rock2 T A 12: 17,027,741 (GRCm39) C1353S probably damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Sel1l T A 12: 91,780,667 (GRCm39) H658L probably damaging Het
Sh3yl1 T A 12: 30,990,313 (GRCm39) L105Q probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sirt1 T C 10: 63,171,501 (GRCm39) K227E probably benign Het
Slc25a34 A T 4: 141,350,899 (GRCm39) F37I possibly damaging Het
Slc39a5 T A 10: 128,232,918 (GRCm39) I378F probably damaging Het
Smarcad1 A T 6: 65,075,808 (GRCm39) D731V probably null Het
Sox6 T G 7: 115,140,905 (GRCm39) K483N probably damaging Het
Sp140 T A 1: 85,538,549 (GRCm39) D95E possibly damaging Het
Srgap1 G T 10: 121,628,256 (GRCm39) D882E probably benign Het
Syne4 T C 7: 30,016,258 (GRCm39) probably benign Het
Tasor2 A G 13: 3,620,391 (GRCm39) F2170S probably damaging Het
Tec T C 5: 72,926,119 (GRCm39) Y289C probably benign Het
Tmem102 A T 11: 69,695,628 (GRCm39) Y115N probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trav17 T A 14: 54,044,097 (GRCm39) M1K probably null Het
Trdn T A 10: 33,275,078 (GRCm39) probably null Het
Trp53 A T 11: 69,477,747 (GRCm39) I8F probably benign Het
Ttn T A 2: 76,585,006 (GRCm39) D22064V probably damaging Het
Ube3c G A 5: 29,837,836 (GRCm39) probably null Het
Ulk1 C T 5: 110,936,813 (GRCm39) probably null Het
Upp1 T C 11: 9,085,976 (GRCm39) V271A probably damaging Het
Vmn2r4 T C 3: 64,296,082 (GRCm39) E901G probably damaging Het
Vmn2r96 G A 17: 18,817,770 (GRCm39) G449D probably damaging Het
Vps37b T C 5: 124,144,675 (GRCm39) K165E probably damaging Het
Vwf A T 6: 125,543,268 (GRCm39) I185F possibly damaging Het
Wasf2 A G 4: 132,912,315 (GRCm39) T56A probably benign Het
Zdhhc23 C G 16: 43,793,952 (GRCm39) D241H possibly damaging Het
Zfp276 T C 8: 123,981,623 (GRCm39) S57P probably benign Het
Zxdc A G 6: 90,347,500 (GRCm39) H287R probably damaging 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
R2157:Dicer1 UTSW 12 104,669,208 (GRCm39) missense probably benign 0.17
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
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'- GTGACTAAAGGCCCTAGAAGC -3'
(R):5'- TTCCCTTTGCTGGCATCAGG -3'

Sequencing Primer
(F):5'- AATAGTGTTCTTGTATACACCAGGGG -3'
(R):5'- GCTGGCATCAGGTCCTTGTC -3'
Posted On 2015-12-29