Incidental Mutation 'R8523:Drosha'
ID 658678
Institutional Source Beutler Lab
Gene Symbol Drosha
Ensembl Gene ENSMUSG00000022191
Gene Name drosha, ribonuclease type III
Synonyms Etohi2, 1110013A17Rik, Rnasen
MMRRC Submission 067948-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R8523 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 12824901-12935377 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12834408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 171 (Y171H)
Ref Sequence ENSEMBL: ENSMUSP00000129279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090292] [ENSMUST00000169061]
AlphaFold Q5HZJ0
Predicted Effect unknown
Transcript: ENSMUST00000090292
AA Change: Y171H
SMART Domains Protein: ENSMUSP00000087762
Gene: ENSMUSG00000022191
AA Change: Y171H

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 unknown
Transcript: ENSMUST00000169061
AA Change: Y171H
SMART Domains Protein: ENSMUSP00000129279
Gene: ENSMUSG00000022191
AA Change: Y171H

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: 99.7%
  • 20x: 98.8%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Ammecr1l T C 18: 31,905,152 (GRCm39) F131S probably damaging Het
Apbb1ip A C 2: 22,709,648 (GRCm39) D35A unknown Het
Arhgap12 A T 18: 6,111,976 (GRCm39) D129E probably benign Het
Arpc1b A G 5: 145,061,492 (GRCm39) D163G probably damaging Het
Atxn7l1 A T 12: 33,396,023 (GRCm39) T251S probably benign Het
Best1 T C 19: 9,969,027 (GRCm39) I230V possibly damaging Het
Brca2 A G 5: 150,483,613 (GRCm39) T2888A possibly damaging Het
Cad T C 5: 31,215,450 (GRCm39) V87A probably damaging Het
Ccdc168 A T 1: 44,099,994 (GRCm39) I368K possibly damaging Het
Ccdc39 C T 3: 33,869,560 (GRCm39) probably null Het
Clcn1 T A 6: 42,284,523 (GRCm39) C548* probably null Het
Col18a1 A G 10: 76,890,068 (GRCm39) S1678P probably damaging Het
Col6a6 T C 9: 105,651,987 (GRCm39) N1008S possibly damaging Het
Defb41 A T 1: 18,321,519 (GRCm39) C32S possibly damaging Het
Dnah6 T C 6: 73,072,171 (GRCm39) N2437S probably damaging Het
Ehd1 T C 19: 6,344,613 (GRCm39) L291P probably damaging Het
Eif3c A T 7: 126,147,069 (GRCm39) H734Q possibly damaging Het
Erich5 A T 15: 34,471,502 (GRCm39) T244S probably benign Het
Fam186b T A 15: 99,177,613 (GRCm39) H571L probably benign Het
Fer1l5 A G 1: 36,426,271 (GRCm39) K360E probably benign Het
Fga A T 3: 82,938,158 (GRCm39) I178F probably damaging Het
Gale A T 4: 135,694,987 (GRCm39) T320S probably benign Het
Gm11232 A T 4: 71,675,465 (GRCm39) S99T probably benign Het
Gpr137 C T 19: 6,917,803 (GRCm39) W94* probably null Het
Grm7 T A 6: 111,223,280 (GRCm39) M440K possibly damaging Het
Hacd4 A G 4: 88,353,286 (GRCm39) F69L probably damaging Het
Hdac7 T A 15: 97,706,251 (GRCm39) H304L probably damaging Het
Herc1 T A 9: 66,358,224 (GRCm39) I2435N probably benign Het
Itgb7 G A 15: 102,124,957 (GRCm39) R755W probably damaging Het
Kdm3b G T 18: 34,926,129 (GRCm39) A90S probably benign Het
Mcmdc2 G A 1: 9,981,946 (GRCm39) M1I probably null Het
Mitd1 A G 1: 37,918,639 (GRCm39) probably null Het
Myh10 A T 11: 68,688,235 (GRCm39) Q1232L probably benign Het
Myo1a C A 10: 127,547,027 (GRCm39) N362K probably damaging Het
N4bp1 G A 8: 87,579,789 (GRCm39) T671I probably damaging Het
Nav3 A T 10: 109,659,138 (GRCm39) D826E probably damaging Het
Negr1 C T 3: 156,866,297 (GRCm39) T282M probably damaging Het
Notch1 G A 2: 26,354,917 (GRCm39) H1837Y possibly damaging Het
Or2m12 A T 16: 19,104,851 (GRCm39) V214E probably benign Het
Or52e19b A T 7: 103,032,413 (GRCm39) F265L probably benign Het
Or5m13 T A 2: 85,748,407 (GRCm39) I46N probably damaging Het
Or7e177 A G 9: 20,212,093 (GRCm39) N200S probably benign Het
Pard6a T C 8: 106,428,881 (GRCm39) C47R probably benign Het
Parp2 T C 14: 51,057,247 (GRCm39) probably null Het
Pck1 C A 2: 172,999,064 (GRCm39) A410D probably damaging Het
Pdzph1 G A 17: 59,191,008 (GRCm39) L85F probably damaging Het
Piezo2 A G 18: 63,279,873 (GRCm39) S1P probably damaging Het
Pld1 T A 3: 28,140,025 (GRCm39) V615D probably damaging Het
Plekha7 T G 7: 115,907,164 (GRCm39) I23L probably benign Het
Prkcz T G 4: 155,346,968 (GRCm39) D388A probably damaging Het
Rab36 A G 10: 74,888,335 (GRCm39) R260G probably benign Het
Reln C A 5: 22,209,229 (GRCm39) R1116S probably damaging Het
Rskr A T 11: 78,184,210 (GRCm39) M225L probably benign Het
Rundc3b T G 5: 8,619,505 (GRCm39) K151Q probably damaging Het
Scaf11 A G 15: 96,316,988 (GRCm39) S859P probably damaging Het
Slc25a32 C T 15: 38,963,281 (GRCm39) R180H probably benign Het
Slc4a9 G A 18: 36,665,196 (GRCm39) G443E possibly damaging Het
Slmap T A 14: 26,150,965 (GRCm39) K534N probably damaging Het
Sncaip G A 18: 52,971,088 (GRCm39) A3T probably damaging Het
Spata31d1c G T 13: 65,180,991 (GRCm39) S30I probably damaging Het
Srrm1 A T 4: 135,051,313 (GRCm39) V789E unknown Het
Srrm2 A T 17: 24,027,489 (GRCm39) probably benign Het
St7l T C 3: 104,775,373 (GRCm39) F83S probably damaging Het
Taf15 C T 11: 83,375,678 (GRCm39) Q48* probably null Het
Tek A T 4: 94,687,403 (GRCm39) D172V probably benign Het
Tmem232 T C 17: 65,785,366 (GRCm39) Y198C probably damaging Het
Tns3 A T 11: 8,398,779 (GRCm39) V1191E probably damaging Het
Togaram1 A G 12: 65,067,088 (GRCm39) D1710G probably damaging Het
Trav16d-dv11 T C 14: 53,285,122 (GRCm39) I66T probably benign Het
Ttn T A 2: 76,577,289 (GRCm39) T24535S possibly damaging Het
Ttn A T 2: 76,730,087 (GRCm39) L911* probably null Het
Ube4a A G 9: 44,861,130 (GRCm39) S227P probably damaging Het
Ubqln1 T C 13: 58,339,569 (GRCm39) T352A probably benign Het
Vmn1r174 C T 7: 23,454,182 (GRCm39) P283S probably damaging Het
Vmn1r59 T C 7: 5,457,053 (GRCm39) T236A probably damaging Het
Vmn2r3 T C 3: 64,182,311 (GRCm39) I463V probably benign Het
Wdr95 A G 5: 149,497,461 (GRCm39) D213G probably damaging Het
Zbtb49 T A 5: 38,370,669 (GRCm39) H404L probably damaging Het
Zfp879 A G 11: 50,728,757 (GRCm39) M79T probably benign Het
Zmiz2 G A 11: 6,352,441 (GRCm39) C600Y 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
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
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'- GGCCAGACTTTGTCCCTTAC -3'
(R):5'- CGTCGTAGTGCTTGAGCCTTTC -3'

Sequencing Primer
(F):5'- AGATGAGACACCCTTTCCCGG -3'
(R):5'- CTTGAGCCTTTCTGGGGAC -3'
Posted On 2021-01-18