Incidental Mutation 'R8283:Drosha'
ID 638339
Institutional Source Beutler Lab
Gene Symbol Drosha
Ensembl Gene ENSMUSG00000022191
Gene Name drosha, ribonuclease type III
Synonyms Etohi2, 1110013A17Rik, Rnasen
MMRRC Submission 067706-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R8283 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 12824901-12935377 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12890587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 945 (I945V)
Ref Sequence ENSEMBL: ENSMUSP00000087762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090292] [ENSMUST00000169061]
AlphaFold Q5HZJ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000090292
AA Change: I945V

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000087762
Gene: ENSMUSG00000022191
AA Change: I945V

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 noncoding transcript
Transcript: ENSMUST00000129031
AA Change: I587V
SMART Domains Protein: ENSMUSP00000121499
Gene: ENSMUSG00000022191
AA Change: I587V

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 possibly damaging
Transcript: ENSMUST00000169061
AA Change: I945V

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129279
Gene: ENSMUSG00000022191
AA Change: I945V

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: 98.8%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C T 5: 8,856,086 (GRCm39) P65S probably damaging Het
Adcy3 A T 12: 4,250,935 (GRCm39) R565W probably damaging Het
Arl14 A T 3: 69,129,868 (GRCm39) N5I probably benign Het
Arl6ip6 A G 2: 53,082,250 (GRCm39) E39G possibly damaging Het
Aven C T 2: 112,390,120 (GRCm39) R8W probably benign Het
Axl C T 7: 25,463,379 (GRCm39) D633N probably benign Het
Boc A T 16: 44,340,800 (GRCm39) L50Q noncoding transcript Het
Calml3 A G 13: 3,854,097 (GRCm39) V36A probably damaging Het
Ccdc183 G A 2: 25,502,160 (GRCm39) A238V probably damaging Het
Ccndbp1 A G 2: 120,839,065 (GRCm39) probably benign Het
Ccr9 A G 9: 123,608,696 (GRCm39) Y126C probably damaging Het
Cdhr1 T C 14: 36,804,737 (GRCm39) N491S probably benign Het
Celsr2 C T 3: 108,303,771 (GRCm39) G2429D probably damaging Het
Cts6 T C 13: 61,349,457 (GRCm39) T84A probably damaging Het
Dcpp2 T C 17: 24,118,384 (GRCm39) probably null Het
Dsg1b A G 18: 20,524,963 (GRCm39) Q133R probably benign Het
Enpp1 T A 10: 24,550,554 (GRCm39) E174D probably benign Het
Esrrb A G 12: 86,468,732 (GRCm39) H15R probably benign Het
Fbxl12 T C 9: 20,550,017 (GRCm39) T213A probably benign Het
Fnbp4 C A 2: 90,577,115 (GRCm39) T149K probably damaging Het
Foxj1 A T 11: 116,224,893 (GRCm39) F158Y probably benign Het
Frrs1 A G 3: 116,671,952 (GRCm39) T17A probably benign Het
Gm10110 C T 14: 90,135,677 (GRCm39) V76M noncoding transcript Het
Gm45844 T C 7: 7,244,901 (GRCm39) Y11C possibly damaging Het
Hnrnpl T C 7: 28,513,697 (GRCm39) V220A Het
Iars2 T A 1: 185,020,288 (GRCm39) R949* probably null Het
Ice1 T C 13: 70,752,549 (GRCm39) E1179G probably damaging Het
Mast4 A G 13: 102,895,177 (GRCm39) L782P probably damaging Het
Mcmdc2 A C 1: 10,004,263 (GRCm39) K581T possibly damaging Het
Men1 A T 19: 6,386,848 (GRCm39) D186V probably damaging Het
Morc2b T G 17: 33,355,675 (GRCm39) N699T probably benign Het
Mrgpra2b A G 7: 47,114,465 (GRCm39) L89P probably damaging Het
Naip1 C T 13: 100,563,695 (GRCm39) G490E probably damaging Het
Ntm T C 9: 28,923,508 (GRCm39) Y224C probably damaging Het
Nup88 A T 11: 70,849,166 (GRCm39) D262E probably benign Het
Or10ag52 T C 2: 87,043,683 (GRCm39) V149A probably benign Het
Or51l4 T A 7: 103,404,019 (GRCm39) I258L possibly damaging Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Oscp1 A G 4: 125,980,393 (GRCm39) M293V probably benign Het
Pcdhgc3 C A 18: 37,940,694 (GRCm39) A365D probably damaging Het
Pcyt2 A T 11: 120,501,548 (GRCm39) F388I probably benign Het
Pgm2l1 C G 7: 99,902,460 (GRCm39) A136G probably benign Het
Phf14 T G 6: 11,987,636 (GRCm39) D638E probably benign Het
Pnpla7 A G 2: 24,940,935 (GRCm39) K1096E probably damaging Het
Prkcb T A 7: 122,199,948 (GRCm39) C586* probably null Het
Rnf187 T A 11: 58,829,241 (GRCm39) R124W probably damaging Het
Sema3a T C 5: 13,450,030 (GRCm39) Y36H probably damaging Het
Setd7 T G 3: 51,428,796 (GRCm39) S345R probably benign Het
Sgms1 T C 19: 32,137,035 (GRCm39) D177G probably damaging Het
Snx19 T C 9: 30,374,522 (GRCm39) L927S possibly damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Sorl1 T C 9: 41,942,294 (GRCm39) D977G probably damaging Het
Sptan1 C T 2: 29,870,212 (GRCm39) R121W probably damaging Het
Srgap2 T C 1: 131,291,771 (GRCm39) D152G probably damaging Het
Suclg2 T A 6: 95,474,700 (GRCm39) probably null Het
Tacc2 T C 7: 130,227,034 (GRCm39) S1240P probably benign Het
Tbc1d12 C T 19: 38,825,353 (GRCm39) A68V probably benign Het
Tex14 G A 11: 87,365,241 (GRCm39) D62N probably damaging Het
Thyn1 C T 9: 26,918,155 (GRCm39) T181I probably benign Het
Trio T A 15: 27,756,628 (GRCm39) H2056L possibly damaging Het
Ubn2 T A 6: 38,475,663 (GRCm39) L1207Q probably damaging Het
Usp17lb T C 7: 104,490,013 (GRCm39) S305G probably damaging Het
Vmn2r101 T A 17: 19,832,253 (GRCm39) Y750N probably damaging Het
Wif1 G A 10: 120,931,952 (GRCm39) S292N probably benign Het
Xpo6 T G 7: 125,727,421 (GRCm39) Q528H 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
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
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'- AACAGTCACTTTGGGTGCGG -3'
(R):5'- GTGTTAGCGAAGAGGTGACC -3'

Sequencing Primer
(F):5'- GCGGAAAATGTTCTTACTTCAGTCAC -3'
(R):5'- TGAGAGCTACCAGGACTACTCGTG -3'
Posted On 2020-07-28