Incidental Mutation 'IGL01893:Drosha'
ID 179320
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Drosha
Ensembl Gene ENSMUSG00000022191
Gene Name drosha, ribonuclease type III
Synonyms Etohi2, 1110013A17Rik, Rnasen
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # IGL01893
Quality Score
Status
Chromosome 15
Chromosomal Location 12824901-12935377 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 12866736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090292] [ENSMUST00000169061]
AlphaFold Q5HZJ0
Predicted Effect probably benign
Transcript: ENSMUST00000090292
SMART Domains Protein: ENSMUSP00000087762
Gene: ENSMUSG00000022191

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

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
SMART Domains Protein: ENSMUSP00000129279
Gene: ENSMUSG00000022191

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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T A 3: 116,582,198 (GRCm39) I275F probably damaging Het
Avil G A 10: 126,856,415 (GRCm39) E815K possibly damaging Het
Car9 T A 4: 43,510,252 (GRCm39) I278N probably damaging Het
Cast T A 13: 74,875,408 (GRCm39) K480* probably null Het
Cenpj A G 14: 56,790,931 (GRCm39) F373L probably damaging Het
Cspp1 T C 1: 10,204,366 (GRCm39) probably null Het
Diaph3 G A 14: 87,156,288 (GRCm39) T675I possibly damaging Het
Dip2b A T 15: 100,069,101 (GRCm39) probably benign Het
Dnah1 T C 14: 30,988,427 (GRCm39) D3425G probably damaging Het
Dolk A G 2: 30,175,926 (GRCm39) Y40H probably benign Het
Dusp15 A G 2: 152,790,956 (GRCm39) probably null Het
Edrf1 T C 7: 133,258,831 (GRCm39) F770L probably benign Het
Gabra1 T C 11: 42,024,586 (GRCm39) K363R possibly damaging Het
Glipr1l1 A C 10: 111,912,074 (GRCm39) T203P probably benign Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
H2-Q10 T C 17: 35,784,168 (GRCm39) S270P probably damaging Het
Hipk2 A T 6: 38,795,330 (GRCm39) M313K probably benign Het
Htt T A 5: 35,034,174 (GRCm39) I1920N probably damaging Het
Lsr A T 7: 30,661,657 (GRCm39) V210E possibly damaging Het
Mbtd1 A T 11: 93,812,238 (GRCm39) I181L probably null Het
Mettl16 A T 11: 74,696,097 (GRCm39) T273S possibly damaging Het
Mlst8 T C 17: 24,696,961 (GRCm39) N74D probably benign Het
Nek9 A G 12: 85,383,174 (GRCm39) I102T probably damaging Het
Nme7 C T 1: 164,172,850 (GRCm39) A187V probably damaging Het
Nphp1 A T 2: 127,611,564 (GRCm39) W261R probably damaging Het
Or12e13 G T 2: 87,664,207 (GRCm39) G275* probably null Het
Or2h2 A G 17: 37,396,760 (GRCm39) L99P probably damaging Het
Or4f14 A T 2: 111,742,589 (GRCm39) S229T possibly damaging Het
Orc6 A G 8: 86,034,272 (GRCm39) D165G probably damaging Het
Ovca2 A G 11: 75,069,133 (GRCm39) S89P probably benign Het
Pcdhb12 T G 18: 37,570,263 (GRCm39) S470A probably benign Het
Phactr2 T C 10: 13,122,932 (GRCm39) T397A probably benign Het
Pms2 T C 5: 143,860,337 (GRCm39) L50P probably damaging Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Serpinb11 C A 1: 107,305,387 (GRCm39) S254R probably benign Het
Serpinb11 C A 1: 107,305,388 (GRCm39) Q255K probably benign Het
Skap2 T C 6: 51,851,556 (GRCm39) T79A probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Tbx19 A T 1: 164,967,767 (GRCm39) S327T possibly damaging Het
Themis3 A G 17: 66,866,622 (GRCm39) L206P possibly damaging Het
Tmem132c T A 5: 127,540,093 (GRCm39) L373Q possibly damaging Het
Unc13c G T 9: 73,600,648 (GRCm39) N1365K probably benign Het
Vmn2r106 A T 17: 20,497,730 (GRCm39) M503K probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r33 A G 7: 7,566,776 (GRCm39) I112T probably benign Het
Vps13a A C 19: 16,641,139 (GRCm39) W2328G 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
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
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
Posted On 2014-05-07