Incidental Mutation 'R6799:Drosha'
ID 533232
Institutional Source Beutler Lab
Gene Symbol Drosha
Ensembl Gene ENSMUSG00000022191
Gene Name drosha, ribonuclease type III
Synonyms Etohi2, 1110013A17Rik, Rnasen
MMRRC Submission 044912-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R6799 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 12824901-12935377 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 12912623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 1080 (Y1080*)
Ref Sequence ENSEMBL: ENSMUSP00000129279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090292] [ENSMUST00000169061]
AlphaFold Q5HZJ0
Predicted Effect probably null
Transcript: ENSMUST00000090292
AA Change: Y1080*
SMART Domains Protein: ENSMUSP00000087762
Gene: ENSMUSG00000022191
AA Change: Y1080*

DomainStartEndE-ValueType
low complexity region 13 32 N/A INTRINSIC
low complexity region 43 69 N/A INTRINSIC
low complexity region 72 102 N/A INTRINSIC
low complexity region 109 137 N/A INTRINSIC
low complexity region 142 169 N/A INTRINSIC
low complexity region 185 200 N/A INTRINSIC
low complexity region 227 269 N/A INTRINSIC
low complexity region 273 301 N/A INTRINSIC
low complexity region 357 370 N/A INTRINSIC
low complexity region 387 410 N/A INTRINSIC
low complexity region 472 499 N/A INTRINSIC
SCOP:d1jfza_ 878 902 4e-4 SMART
RIBOc 942 1076 1.73e-45 SMART
Blast:RIBOc 1086 1112 1e-6 BLAST
RIBOc 1121 1253 1.6e-49 SMART
DSRM 1260 1332 5.75e-20 SMART
coiled coil region 1346 1370 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000129031
AA Change: Y722*
SMART Domains Protein: ENSMUSP00000121499
Gene: ENSMUSG00000022191
AA Change: Y722*

DomainStartEndE-ValueType
low complexity region 115 142 N/A INTRINSIC
SCOP:d1jfza_ 521 545 6e-4 SMART
RIBOc 585 719 1.73e-45 SMART
Blast:RIBOc 729 755 1e-6 BLAST
RIBOc 764 896 1.6e-49 SMART
DSRM 903 975 5.75e-20 SMART
coiled coil region 988 1012 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000169061
AA Change: Y1080*
SMART Domains Protein: ENSMUSP00000129279
Gene: ENSMUSG00000022191
AA Change: Y1080*

DomainStartEndE-ValueType
low complexity region 13 32 N/A INTRINSIC
low complexity region 43 69 N/A INTRINSIC
low complexity region 72 102 N/A INTRINSIC
low complexity region 109 137 N/A INTRINSIC
low complexity region 142 169 N/A INTRINSIC
low complexity region 185 200 N/A INTRINSIC
low complexity region 227 269 N/A INTRINSIC
low complexity region 273 301 N/A INTRINSIC
low complexity region 357 370 N/A INTRINSIC
low complexity region 387 410 N/A INTRINSIC
low complexity region 472 499 N/A INTRINSIC
SCOP:d1jfza_ 878 902 4e-4 SMART
RIBOc 942 1076 1.73e-45 SMART
Blast:RIBOc 1086 1112 1e-6 BLAST
RIBOc 1121 1253 1.6e-49 SMART
DSRM 1260 1332 5.75e-20 SMART
coiled coil region 1346 1370 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ribonuclease (RNase) III double-stranded RNA-specific ribonuclease and subunit of the microprocessor protein complex, which catalyzes the initial processing step of microRNA (miRNA) synthesis. The encoded protein cleaves the stem loop structure from the primary microRNA (pri-miRNA) in the nucleus, yielding the precursor miRNA (pre-miRNA), which is then exported to the cytoplasm for further processing. In a human cell line lacking a functional copy of this gene, canonical miRNA synthesis is reduced. Somatic mutations in this gene have been observed in human patients with kidney cancer. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice heterozygous for a knock-out allele and a conditional allele activated in the immune system exhibit increased inflammation in multiple systems, cachexia and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A T 5: 144,981,624 (GRCm39) Y153F probably damaging Het
Abcb1b T A 5: 8,862,656 (GRCm39) Y113N probably damaging Het
Albfm1 A G 5: 90,727,474 (GRCm39) H364R probably damaging Het
Anapc1 C G 2: 128,501,657 (GRCm39) R795T probably null Het
Arhgap18 T A 10: 26,725,917 (GRCm39) N47K possibly damaging Het
Arhgap26 A G 18: 39,232,660 (GRCm39) N96D probably damaging Het
Asxl3 G T 18: 22,598,457 (GRCm39) E191* probably null Het
Cc2d2b A G 19: 40,779,652 (GRCm39) E697G possibly damaging Het
Chaf1a A T 17: 56,354,059 (GRCm39) I110F unknown Het
Clca4b A T 3: 144,621,388 (GRCm39) probably null Het
Dagla C A 19: 10,234,214 (GRCm39) V366L probably damaging Het
Dapk1 A G 13: 60,900,049 (GRCm39) N878S probably benign Het
Dapk3 A G 10: 81,026,096 (GRCm39) Y129C probably damaging Het
Dhx38 A G 8: 110,279,834 (GRCm39) L952P probably damaging Het
Dscaml1 G A 9: 45,361,881 (GRCm39) V214I probably benign Het
Dtymk A G 1: 93,726,214 (GRCm39) L15P probably benign Het
E330034G19Rik A G 14: 24,346,178 (GRCm39) M30V probably benign Het
Egfr G A 11: 16,846,952 (GRCm39) C783Y probably damaging Het
Epha8 C T 4: 136,672,980 (GRCm39) R268Q probably benign Het
Fbxw24 T A 9: 109,453,998 (GRCm39) R49S probably damaging Het
Fcsk T C 8: 111,620,050 (GRCm39) M276V probably benign Het
Gm8797 A T 3: 5,816,027 (GRCm39) T22S probably benign Het
Hao1 T C 2: 134,372,685 (GRCm39) S108G probably damaging Het
Hdac4 C A 1: 91,929,935 (GRCm39) A184S probably damaging Het
Hikeshi T A 7: 89,579,553 (GRCm39) probably benign Het
Hivep2 C T 10: 14,004,757 (GRCm39) R452C probably benign Het
Hsdl1 T C 8: 120,293,169 (GRCm39) S68G probably benign Het
Kctd20 T C 17: 29,182,351 (GRCm39) probably null Het
Klf11 T C 12: 24,705,638 (GRCm39) V364A possibly damaging Het
Kpna6 A G 4: 129,551,247 (GRCm39) L86P probably damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lpin1 T A 12: 16,611,045 (GRCm39) N516Y probably damaging Het
Lrp2 T C 2: 69,314,248 (GRCm39) Y2161C probably damaging Het
Lrrtm3 A T 10: 63,923,630 (GRCm39) C512* probably null Het
Mfsd1 T C 3: 67,507,314 (GRCm39) I405T probably damaging Het
Msc T G 1: 14,825,491 (GRCm39) D161A probably damaging Het
Mttp T C 3: 137,800,841 (GRCm39) I755V probably benign Het
Ncam1 T C 9: 49,419,911 (GRCm39) T803A probably damaging Het
Nlrp14 A G 7: 106,795,346 (GRCm39) I210V probably benign Het
Npat A T 9: 53,462,930 (GRCm39) H108L probably benign Het
Nt5dc1 A G 10: 34,189,703 (GRCm39) I329T possibly damaging Het
Or10v5 T A 19: 11,806,178 (GRCm39) I71F possibly damaging Het
Or51q1c T A 7: 103,648,006 (GRCm39) probably null Het
Or8b35 T C 9: 37,904,478 (GRCm39) L230P possibly damaging Het
Parm1 C T 5: 91,742,070 (GRCm39) T146I possibly damaging Het
Parp2 T C 14: 51,058,553 (GRCm39) Y528H probably damaging Het
Pias1 G T 9: 62,789,334 (GRCm39) S624R probably benign Het
Ppif A G 14: 25,696,488 (GRCm39) H95R probably damaging Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Psg20 A G 7: 18,418,345 (GRCm39) Y141H probably benign Het
Pygm A T 19: 6,448,157 (GRCm39) Y733F probably damaging Het
Rcc1l A T 5: 134,205,552 (GRCm39) M1K probably null Het
Rfpl4b T C 10: 38,697,341 (GRCm39) K87E possibly damaging Het
Rnf113a1 A C X: 36,455,840 (GRCm39) T266P probably benign Het
Scn5a A C 9: 119,324,688 (GRCm39) I1380S possibly damaging Het
Sel1l A G 12: 91,781,742 (GRCm39) probably null Het
Slc18a1 T A 8: 69,493,633 (GRCm39) I400L probably benign Het
Slc30a3 A G 5: 31,246,958 (GRCm39) S73P probably damaging Het
Slc9a5 A T 8: 106,090,600 (GRCm39) N685I possibly damaging Het
Tnc C T 4: 63,883,841 (GRCm39) R1868H probably benign Het
Trdmt1 A G 2: 13,520,824 (GRCm39) probably null Het
Ttyh1 G T 7: 4,136,221 (GRCm39) probably null Het
Tyms A T 5: 30,266,069 (GRCm39) D283E probably benign Het
Vmn2r110 T A 17: 20,803,798 (GRCm39) Y259F probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r88 C A 14: 51,651,426 (GRCm39) Q255K probably benign Het
Vmn2r95 C T 17: 18,659,555 (GRCm39) P100S probably damaging Het
Zfp128 A T 7: 12,624,826 (GRCm39) H398L possibly damaging Het
Other mutations in Drosha
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00576:Drosha APN 15 12,883,280 (GRCm39) missense probably damaging 0.99
IGL00736:Drosha APN 15 12,834,045 (GRCm39) missense unknown
IGL00963:Drosha APN 15 12,926,083 (GRCm39) missense probably damaging 0.99
IGL01010:Drosha APN 15 12,827,375 (GRCm39) unclassified probably benign
IGL01340:Drosha APN 15 12,834,109 (GRCm39) intron probably benign
IGL01481:Drosha APN 15 12,842,525 (GRCm39) missense probably benign
IGL01714:Drosha APN 15 12,878,870 (GRCm39) missense probably damaging 1.00
IGL01721:Drosha APN 15 12,846,198 (GRCm39) nonsense probably null
IGL01765:Drosha APN 15 12,902,766 (GRCm39) missense probably damaging 1.00
IGL01893:Drosha APN 15 12,866,736 (GRCm39) splice site probably benign
IGL01944:Drosha APN 15 12,889,805 (GRCm39) missense probably damaging 1.00
IGL02285:Drosha APN 15 12,833,950 (GRCm39) missense unknown
IGL02970:Drosha APN 15 12,914,042 (GRCm39) missense probably damaging 0.98
IGL02990:Drosha APN 15 12,827,353 (GRCm39) unclassified probably benign
IGL03019:Drosha APN 15 12,846,185 (GRCm39) missense probably damaging 1.00
IGL03279:Drosha APN 15 12,859,478 (GRCm39) missense probably benign 0.03
IGL03390:Drosha APN 15 12,885,069 (GRCm39) splice site probably null
tippicanoe UTSW 15 12,859,551 (GRCm39) splice site probably null
Tyler UTSW 15 12,861,792 (GRCm39) missense probably benign 0.45
R0115:Drosha UTSW 15 12,846,216 (GRCm39) missense probably benign 0.15
R0352:Drosha UTSW 15 12,837,374 (GRCm39) missense unknown
R0401:Drosha UTSW 15 12,926,117 (GRCm39) nonsense probably null
R0541:Drosha UTSW 15 12,907,474 (GRCm39) missense probably benign 0.09
R0784:Drosha UTSW 15 12,867,764 (GRCm39) splice site probably benign
R0918:Drosha UTSW 15 12,842,619 (GRCm39) critical splice donor site probably null
R1473:Drosha UTSW 15 12,912,606 (GRCm39) missense probably benign 0.04
R1503:Drosha UTSW 15 12,848,159 (GRCm39) missense probably benign 0.02
R1526:Drosha UTSW 15 12,914,070 (GRCm39) missense probably damaging 1.00
R1809:Drosha UTSW 15 12,890,198 (GRCm39) missense probably null 1.00
R1859:Drosha UTSW 15 12,878,804 (GRCm39) missense probably benign 0.14
R2004:Drosha UTSW 15 12,915,467 (GRCm39) missense probably damaging 0.98
R2060:Drosha UTSW 15 12,924,245 (GRCm39) missense possibly damaging 0.94
R2516:Drosha UTSW 15 12,859,551 (GRCm39) splice site probably null
R3691:Drosha UTSW 15 12,834,724 (GRCm39) missense unknown
R3784:Drosha UTSW 15 12,890,615 (GRCm39) missense possibly damaging 0.82
R3789:Drosha UTSW 15 12,912,623 (GRCm39) nonsense probably null
R3790:Drosha UTSW 15 12,912,623 (GRCm39) nonsense probably null
R4020:Drosha UTSW 15 12,837,422 (GRCm39) missense possibly damaging 0.96
R4817:Drosha UTSW 15 12,914,133 (GRCm39) missense probably damaging 0.97
R4989:Drosha UTSW 15 12,935,093 (GRCm39) missense probably benign 0.05
R5080:Drosha UTSW 15 12,842,229 (GRCm39) missense probably benign 0.01
R5132:Drosha UTSW 15 12,837,377 (GRCm39) missense unknown
R5215:Drosha UTSW 15 12,885,219 (GRCm39) intron probably benign
R5386:Drosha UTSW 15 12,842,207 (GRCm39) missense probably benign
R5457:Drosha UTSW 15 12,926,115 (GRCm39) missense probably benign 0.26
R5536:Drosha UTSW 15 12,929,797 (GRCm39) missense possibly damaging 0.58
R5800:Drosha UTSW 15 12,902,733 (GRCm39) missense probably damaging 1.00
R5800:Drosha UTSW 15 12,865,153 (GRCm39) missense probably damaging 1.00
R5915:Drosha UTSW 15 12,935,152 (GRCm39) missense probably damaging 0.97
R5988:Drosha UTSW 15 12,834,582 (GRCm39) intron probably benign
R6033:Drosha UTSW 15 12,926,085 (GRCm39) missense probably benign 0.25
R6033:Drosha UTSW 15 12,926,085 (GRCm39) missense probably benign 0.25
R6063:Drosha UTSW 15 12,834,156 (GRCm39) intron probably benign
R6391:Drosha UTSW 15 12,889,803 (GRCm39) nonsense probably null
R6492:Drosha UTSW 15 12,861,792 (GRCm39) missense probably benign 0.45
R6870:Drosha UTSW 15 12,907,479 (GRCm39) missense probably benign 0.17
R6920:Drosha UTSW 15 12,834,396 (GRCm39) missense unknown
R7101:Drosha UTSW 15 12,865,153 (GRCm39) missense probably damaging 1.00
R7142:Drosha UTSW 15 12,924,232 (GRCm39) missense possibly damaging 0.70
R7275:Drosha UTSW 15 12,846,169 (GRCm39) missense possibly damaging 0.73
R7337:Drosha UTSW 15 12,846,285 (GRCm39) missense possibly damaging 0.80
R7471:Drosha UTSW 15 12,889,742 (GRCm39) missense probably damaging 1.00
R7538:Drosha UTSW 15 12,926,329 (GRCm39) missense probably damaging 1.00
R7559:Drosha UTSW 15 12,842,508 (GRCm39) missense probably damaging 0.96
R7651:Drosha UTSW 15 12,859,522 (GRCm39) missense probably benign 0.30
R7652:Drosha UTSW 15 12,859,522 (GRCm39) missense probably benign 0.30
R7653:Drosha UTSW 15 12,859,522 (GRCm39) missense probably benign 0.30
R7727:Drosha UTSW 15 12,881,731 (GRCm39) missense probably damaging 1.00
R7780:Drosha UTSW 15 12,848,172 (GRCm39) missense probably benign 0.01
R8068:Drosha UTSW 15 12,883,276 (GRCm39) nonsense probably null
R8283:Drosha UTSW 15 12,890,587 (GRCm39) missense possibly damaging 0.47
R8523:Drosha UTSW 15 12,834,408 (GRCm39) missense unknown
R8985:Drosha UTSW 15 12,924,187 (GRCm39) missense possibly damaging 0.66
R9418:Drosha UTSW 15 12,885,167 (GRCm39) missense probably benign 0.02
R9501:Drosha UTSW 15 12,928,992 (GRCm39) missense probably damaging 1.00
R9674:Drosha UTSW 15 12,890,170 (GRCm39) missense probably damaging 1.00
Z1177:Drosha UTSW 15 12,842,178 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCCGTTTGAGTGGTGAATACAC -3'
(R):5'- ATCCCCATGCTTACCAGGTC -3'

Sequencing Primer
(F):5'- TTTGCAGTGACTGGAGTC -3'
(R):5'- AGGTCACCTGAGCACACGTG -3'
Posted On 2018-09-12