Incidental Mutation 'IGL01717:Dicer1'
ID 104970
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dicer1
Ensembl Gene ENSMUSG00000041415
Gene Name dicer 1, ribonuclease type III
Synonyms D12Ertd7e, Dicer1, 1110006F08Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01717
Quality Score
Status
Chromosome 12
Chromosomal Location 104654001-104718211 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 104669046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 1212 (L1212*)
Ref Sequence ENSEMBL: ENSMUSP00000043676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041987]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000041987
AA Change: L1212*
SMART Domains Protein: ENSMUSP00000043676
Gene: ENSMUSG00000041415
AA Change: L1212*

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
Coding Region Coverage
Validation Efficiency
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aif1 A T 17: 35,390,531 (GRCm39) M73K probably damaging Het
Alk T C 17: 72,910,377 (GRCm39) I110V probably benign Het
Aoah T C 13: 21,184,147 (GRCm39) S404P probably damaging Het
Bhlhe41 A G 6: 145,808,763 (GRCm39) S350P possibly damaging Het
Bltp1 A G 3: 37,088,885 (GRCm39) S4112G probably benign Het
Capn12 A G 7: 28,588,530 (GRCm39) D540G probably benign Het
Chd6 A G 2: 160,807,179 (GRCm39) Y2012H possibly damaging Het
Col1a1 A G 11: 94,841,603 (GRCm39) T1284A unknown Het
Col24a1 T C 3: 145,230,018 (GRCm39) probably benign Het
Col4a5 T A X: 140,422,234 (GRCm39) V1070D unknown Het
Col6a5 T C 9: 105,817,472 (GRCm39) T280A unknown Het
Gigyf1 T A 5: 137,523,953 (GRCm39) V1041E probably damaging Het
Gm4978 C T 9: 69,358,155 (GRCm39) probably benign Het
Gnai1 A G 5: 18,496,459 (GRCm39) probably null Het
Golgb1 C T 16: 36,735,864 (GRCm39) R1704* probably null Het
Incenp A G 19: 9,870,629 (GRCm39) probably benign Het
Lrrc39 A T 3: 116,373,146 (GRCm39) probably benign Het
Man2a2 T C 7: 80,017,113 (GRCm39) K319E probably damaging Het
Neb T C 2: 52,079,879 (GRCm39) D83G probably damaging Het
Osbpl6 T C 2: 76,418,938 (GRCm39) I732T probably damaging Het
Pacs1 T A 19: 5,218,000 (GRCm39) K130N probably damaging Het
Pappa2 A G 1: 158,684,702 (GRCm39) probably null Het
Pole2 T C 12: 69,260,623 (GRCm39) M186V probably damaging Het
Rwdd4a T C 8: 47,997,140 (GRCm39) probably benign Het
Sel1l3 A G 5: 53,357,510 (GRCm39) Y161H probably damaging Het
Sf3a2 C T 10: 80,640,526 (GRCm39) Q446* probably null Het
Slc26a3 T C 12: 31,513,476 (GRCm39) I466T probably benign Het
Slc29a4 A T 5: 142,704,501 (GRCm39) I348F probably damaging Het
Tbl1xr1 A G 3: 22,247,335 (GRCm39) probably benign Het
Tlr5 A T 1: 182,802,963 (GRCm39) I756F probably damaging Het
Ttn T A 2: 76,560,746 (GRCm39) L29218F probably damaging Het
Ttn A T 2: 76,560,748 (GRCm39) L29218I 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
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
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
Posted On 2014-01-21