Incidental Mutation 'R7559:Drosha'
ID 584978
Institutional Source Beutler Lab
Gene Symbol Drosha
Ensembl Gene ENSMUSG00000022191
Gene Name drosha, ribonuclease type III
Synonyms Etohi2, 1110013A17Rik, Rnasen
MMRRC Submission 045653-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R7559 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 12824901-12935377 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12842508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 393 (E393G)
Ref Sequence ENSEMBL: ENSMUSP00000087762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090292] [ENSMUST00000169061]
AlphaFold Q5HZJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000090292
AA Change: E393G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000087762
Gene: ENSMUSG00000022191
AA Change: E393G

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 damaging
Transcript: ENSMUST00000169061
AA Change: E393G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129279
Gene: ENSMUSG00000022191
AA Change: E393G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (68/69)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 C A 5: 139,265,295 (GRCm39) R206L probably damaging Het
Adcy3 A G 12: 4,248,440 (GRCm39) K501E probably benign Het
Agl T C 3: 116,545,764 (GRCm39) D679G Het
Ankrd10 A T 8: 11,662,548 (GRCm39) V395D probably damaging Het
Ano5 A G 7: 51,224,636 (GRCm39) I531V probably damaging Het
Apol9a T A 15: 77,288,761 (GRCm39) H202L possibly damaging Het
Atp6v1c2 A C 12: 17,351,215 (GRCm39) I105M probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Coro1b T C 19: 4,200,220 (GRCm39) probably null Het
D930020B18Rik A G 10: 121,492,131 (GRCm39) probably benign Het
Dcst2 T C 3: 89,276,021 (GRCm39) F384S possibly damaging Het
Ddx39a T A 8: 84,447,595 (GRCm39) F147I possibly damaging Het
Etfdh T C 3: 79,530,886 (GRCm39) Y45C probably damaging Het
Fam20c G T 5: 138,778,954 (GRCm39) E287D possibly damaging Het
Flnc T A 6: 29,459,009 (GRCm39) D2463E probably damaging Het
Flt4 A T 11: 49,535,198 (GRCm39) I1209F possibly damaging Het
Foxp1 T C 6: 98,922,521 (GRCm39) D437G unknown Het
Fras1 T C 5: 96,888,713 (GRCm39) V2753A possibly damaging Het
Ftsj3 T C 11: 106,143,813 (GRCm39) D277G possibly damaging Het
Gad1 T C 2: 70,394,256 (GRCm39) probably null Het
Gal3st2c A G 1: 93,937,075 (GRCm39) Y340C probably damaging Het
Gbp9 A G 5: 105,232,975 (GRCm39) F226L probably damaging Het
Gm11992 C T 11: 9,002,747 (GRCm39) P37S possibly damaging Het
Gm19668 G T 10: 77,634,572 (GRCm39) C132* probably null Het
Hdac3 A T 18: 38,078,569 (GRCm39) F139I possibly damaging Het
Hectd4 A G 5: 121,453,573 (GRCm39) probably null Het
Helz T A 11: 107,491,104 (GRCm39) S162T possibly damaging Het
Hspb6 C A 7: 30,253,712 (GRCm39) S75Y probably damaging Het
Il17rb T A 14: 29,719,000 (GRCm39) I361F probably damaging Het
Iqsec3 A T 6: 121,364,739 (GRCm39) V850D probably damaging Het
Knl1 A G 2: 118,924,487 (GRCm39) E1840G possibly damaging Het
Lamc3 A G 2: 31,812,380 (GRCm39) K939R probably benign Het
Lmo7 C T 14: 102,124,662 (GRCm39) R496* probably null Het
Lsm14a A T 7: 34,052,826 (GRCm39) C374* probably null Het
Luc7l T C 17: 26,474,089 (GRCm39) L49P probably damaging Het
Mdga2 A C 12: 66,520,003 (GRCm39) C988G probably damaging Het
Mtf1 T C 4: 124,713,999 (GRCm39) V136A probably damaging Het
Myo7b T A 18: 32,116,413 (GRCm39) I1016F probably benign Het
Nadsyn1 C A 7: 143,361,804 (GRCm39) A306S probably benign Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Nr4a1 T C 15: 101,168,780 (GRCm39) V272A probably damaging Het
Opcml A T 9: 28,814,620 (GRCm39) T291S probably benign Het
Or13a24 T A 7: 140,154,356 (GRCm39) C97S probably damaging Het
Or52u1 C A 7: 104,237,087 (GRCm39) H25Q probably damaging Het
Or56b1b C T 7: 108,164,763 (GRCm39) A80T probably damaging Het
Osbp2 C G 11: 3,662,493 (GRCm39) K196N probably damaging Het
Otoa T C 7: 120,743,149 (GRCm39) V792A probably damaging Het
Pcmtd1 A G 1: 7,239,766 (GRCm39) D245G probably damaging Het
Pcnx1 T C 12: 82,039,896 (GRCm39) V1428A unknown Het
Pik3r4 A G 9: 105,555,352 (GRCm39) H1103R probably benign Het
Pjvk C T 2: 76,486,154 (GRCm39) H185Y probably benign Het
Pkd1l3 T C 8: 110,351,072 (GRCm39) V639A probably benign Het
Pklr T C 3: 89,050,365 (GRCm39) S405P probably damaging Het
Pla2g12a T A 3: 129,672,569 (GRCm39) Y68N probably damaging Het
Proz A G 8: 13,113,455 (GRCm39) H92R probably benign Het
Sec23ip G T 7: 128,379,074 (GRCm39) V844F possibly damaging Het
Sema3f A G 9: 107,561,777 (GRCm39) V520A possibly damaging Het
Serpinb12 A G 1: 106,881,453 (GRCm39) I197V probably damaging Het
Sim2 A T 16: 93,910,218 (GRCm39) I207F possibly damaging Het
Slc15a2 C T 16: 36,572,259 (GRCm39) V702I probably benign Het
Slc35f4 T C 14: 49,541,732 (GRCm39) I341V probably benign Het
Spam1 A G 6: 24,800,452 (GRCm39) Y397C probably damaging Het
Spire1 A T 18: 67,634,187 (GRCm39) M417K probably benign Het
Srcap T C 7: 127,129,722 (GRCm39) S515P unknown Het
Tfrc T A 16: 32,440,235 (GRCm39) probably null Het
Topors A G 4: 40,261,401 (GRCm39) S628P unknown Het
Trim71 T C 9: 114,342,110 (GRCm39) Y724C probably damaging Het
Ttn C T 2: 76,623,199 (GRCm39) V15413I probably damaging Het
Vmn1r21 A T 6: 57,821,227 (GRCm39) N72K probably damaging Het
Vmn2r80 A T 10: 79,030,459 (GRCm39) M762L probably benign Het
Wdr62 A G 7: 29,970,198 (GRCm39) I203T probably 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
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
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'- CGCTTTACCAGTTGCTCCTGAG -3'
(R):5'- TAAACGCCACATTGCTGCG -3'

Sequencing Primer
(F):5'- ATCCTGATGCTAGCAGACTGG -3'
(R):5'- CACATTGCTGCGGTGGAG -3'
Posted On 2019-10-17