Incidental Mutation 'R0541:Drosha'
ID 49938
Institutional Source Beutler Lab
Gene Symbol Drosha
Ensembl Gene ENSMUSG00000022191
Gene Name drosha, ribonuclease type III
Synonyms Etohi2, 1110013A17Rik, Rnasen
MMRRC Submission 038733-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R0541 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 12824901-12935377 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 12907474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 1069 (N1069K)
Ref Sequence ENSEMBL: ENSMUSP00000087762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090292] [ENSMUST00000169061]
AlphaFold Q5HZJ0
Predicted Effect probably benign
Transcript: ENSMUST00000090292
AA Change: N1069K

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000087762
Gene: ENSMUSG00000022191
AA Change: N1069K

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
SMART Domains Protein: ENSMUSP00000121499
Gene: ENSMUSG00000022191
AA Change: N711K

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 noncoding transcript
Transcript: ENSMUST00000150211
Predicted Effect probably benign
Transcript: ENSMUST00000169061
AA Change: N1069K

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000129279
Gene: ENSMUSG00000022191
AA Change: N1069K

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 0.0757 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 96% (64/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 130,740,872 (GRCm39) M115V probably benign Het
4933415A04Rik TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT 11: 43,478,227 (GRCm39) probably null Het
Abca7 C T 10: 79,843,185 (GRCm39) A1220V probably benign Het
Adamts19 G A 18: 59,060,372 (GRCm39) probably null Het
Agbl1 G A 7: 76,058,993 (GRCm39) V194M probably benign Het
Arhgap20 G T 9: 51,760,963 (GRCm39) S902I probably damaging Het
Atp11b T G 3: 35,861,093 (GRCm39) D193E probably damaging Het
B3gntl1 A T 11: 121,535,430 (GRCm39) probably benign Het
C2cd2 T C 16: 97,723,496 (GRCm39) E7G possibly damaging Het
Camta2 A G 11: 70,572,447 (GRCm39) L259P probably benign Het
Ccni T C 5: 93,335,563 (GRCm39) N192D probably benign Het
Cgnl1 A G 9: 71,558,535 (GRCm39) I946T possibly damaging Het
Chil3 T C 3: 106,068,548 (GRCm39) probably null Het
Cntn5 A G 9: 9,673,407 (GRCm39) probably benign Het
Cpn2 C T 16: 30,078,169 (GRCm39) G511S possibly damaging Het
Dagla C A 19: 10,232,170 (GRCm39) probably null Het
Dcc T C 18: 71,392,086 (GRCm39) N1440S probably damaging Het
Edc4 A G 8: 106,616,060 (GRCm39) T812A probably benign Het
Eml4 A G 17: 83,747,471 (GRCm39) I238V probably benign Het
Ep400 T C 5: 110,852,882 (GRCm39) T1288A unknown Het
Fastkd1 A C 2: 69,532,750 (GRCm39) L539R probably damaging Het
Fbln7 G A 2: 128,719,454 (GRCm39) probably benign Het
Fbxo39 A G 11: 72,209,297 (GRCm39) I386V probably benign Het
Gm17430 T C 18: 9,726,267 (GRCm39) K135R probably damaging Het
Gm3646 T A 1: 39,843,483 (GRCm39) T8S unknown Het
Gtsf1 A T 15: 103,329,619 (GRCm39) V100E possibly damaging Het
Helz2 A G 2: 180,876,618 (GRCm39) F1292S possibly damaging Het
Igf2bp3 G A 6: 49,084,401 (GRCm39) probably benign Het
Ip6k2 T G 9: 108,681,826 (GRCm39) D252E probably damaging Het
Iqck T A 7: 118,514,817 (GRCm39) L232Q probably damaging Het
Kif18b A G 11: 102,806,001 (GRCm39) V186A probably damaging Het
Klhl6 T A 16: 19,768,197 (GRCm39) probably null Het
Lao1 C T 4: 118,820,999 (GRCm39) T75I probably benign Het
Lyst T C 13: 13,855,878 (GRCm39) F2400L probably benign Het
Map3k9 A T 12: 81,780,997 (GRCm39) S388T possibly damaging Het
Mmp11 G T 10: 75,762,767 (GRCm39) H229N probably damaging Het
Myh7 T G 14: 55,212,158 (GRCm39) I1529L probably benign Het
Nckap5 G T 1: 126,623,459 (GRCm39) D11E possibly damaging Het
Ncoa1 A T 12: 4,373,033 (GRCm39) F123I probably damaging Het
Nelfb A T 2: 25,093,992 (GRCm39) D385E probably benign Het
Obscn C T 11: 58,972,810 (GRCm39) V2288M probably damaging Het
Or2f1b A G 6: 42,739,154 (GRCm39) H56R probably damaging Het
Or4d6 C T 19: 12,086,884 (GRCm39) V9M possibly damaging Het
Or52x1 A T 7: 104,853,367 (GRCm39) M61K probably damaging Het
Or5b12b A G 19: 12,861,458 (GRCm39) Y71C probably damaging Het
Otog T A 7: 45,918,673 (GRCm39) probably benign Het
Oxa1l A G 14: 54,605,646 (GRCm39) E375G possibly damaging Het
Pan2 T A 10: 128,144,091 (GRCm39) I129K possibly damaging Het
Parp1 A G 1: 180,426,616 (GRCm39) I919M probably benign Het
Pnpla7 T C 2: 24,885,305 (GRCm39) Y174H probably damaging Het
Polr3b T C 10: 84,473,928 (GRCm39) F169S probably damaging Het
Rab10 T C 12: 3,314,743 (GRCm39) D45G probably damaging Het
Reln A G 5: 22,185,107 (GRCm39) S1537P possibly damaging Het
Sema6d T A 2: 124,507,197 (GRCm39) S1045T probably benign Het
Setd2 T C 9: 110,402,741 (GRCm39) V1794A probably damaging Het
Spidr T A 16: 15,733,229 (GRCm39) I589F probably damaging Het
Stmn4 A C 14: 66,595,388 (GRCm39) I165L probably benign Het
Stx5a T C 19: 8,727,301 (GRCm39) M177T probably damaging Het
Tll1 T C 8: 64,491,486 (GRCm39) probably null Het
Tmem192 T C 8: 65,416,912 (GRCm39) Y168H probably damaging Het
Ttc21a C T 9: 119,785,892 (GRCm39) probably benign Het
Ush2a A G 1: 188,446,663 (GRCm39) probably benign Het
Vezf1 A G 11: 87,972,403 (GRCm39) M255V possibly damaging Het
Vmn2r25 A G 6: 123,816,786 (GRCm39) F265S probably damaging Het
Vps13a A G 19: 16,681,941 (GRCm39) S1021P probably benign Het
Wfdc16 T C 2: 164,477,773 (GRCm39) E92G possibly damaging Het
Zkscan2 T C 7: 123,079,423 (GRCm39) T845A 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
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
R6799:Drosha UTSW 15 12,912,623 (GRCm39) nonsense probably null
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'- AAAACAGTCTGCGCTCAGCTCC -3'
(R):5'- TGGTACAGAAAGCATTTAGGACGCTC -3'

Sequencing Primer
(F):5'- CTAGGCTCTCTGCTGTGACTG -3'
(R):5'- TGCATGGGACAGGTACTCAC -3'
Posted On 2013-06-12