Incidental Mutation 'R6063:Drosha'
ID 483936
Institutional Source Beutler Lab
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 # R6063 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 12824901-12935377 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 12834156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000090292] [ENSMUST00000169061]
AlphaFold Q5HZJ0
Predicted Effect unknown
Transcript: ENSMUST00000090292
AA Change: S87P
SMART Domains Protein: ENSMUSP00000087762
Gene: ENSMUSG00000022191
AA Change: S87P

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 benign
Transcript: ENSMUST00000129031
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: ENSMUST00000141706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147647
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156594
Predicted Effect unknown
Transcript: ENSMUST00000169061
AA Change: S87P
SMART Domains Protein: ENSMUSP00000129279
Gene: ENSMUSG00000022191
AA Change: S87P

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G A 17: 24,483,318 (GRCm39) R1713C unknown Het
Ano6 C T 15: 95,846,298 (GRCm39) T512I probably damaging Het
Ap3s1 T C 18: 46,887,505 (GRCm39) V46A probably benign Het
Art2a C A 7: 101,204,413 (GRCm39) V42F probably damaging Het
Asph C T 4: 9,531,960 (GRCm39) V386M probably benign Het
B4galnt4 T A 7: 140,644,643 (GRCm39) D179E probably benign Het
Bbx T C 16: 50,071,730 (GRCm39) I232V probably benign Het
C1ql2 A G 1: 120,269,321 (GRCm39) I159V probably benign Het
Ccar1 A G 10: 62,612,496 (GRCm39) V223A possibly damaging Het
Cd2ap A T 17: 43,136,802 (GRCm39) L277I probably benign Het
Cfap44 G A 16: 44,250,255 (GRCm39) E778K probably benign Het
Chd3 A T 11: 69,240,063 (GRCm39) D1626E probably benign Het
Crocc C T 4: 140,769,032 (GRCm39) G505S probably benign Het
Crocc T A 4: 140,773,851 (GRCm39) Q72L probably damaging Het
Eps8l1 T A 7: 4,474,296 (GRCm39) S256T possibly damaging Het
F830045P16Rik A G 2: 129,316,310 (GRCm39) V133A probably damaging Het
Fermt2 A T 14: 45,697,338 (GRCm39) M671K possibly damaging Het
Fhdc1 G A 3: 84,353,336 (GRCm39) L630F probably benign Het
Gon4l T C 3: 88,807,306 (GRCm39) S1667P probably damaging Het
Greb1l A C 18: 10,557,340 (GRCm39) K1780T probably damaging Het
H2-Q10 C T 17: 35,781,026 (GRCm39) T8M probably benign Het
Hmcn2 A T 2: 31,324,725 (GRCm39) T4215S probably benign Het
I0C0044D17Rik G A 4: 98,708,576 (GRCm39) probably benign Het
Ifi204 A G 1: 173,579,223 (GRCm39) F541L probably benign Het
Igkv6-17 C T 6: 70,348,764 (GRCm39) A45V probably damaging Het
Intu G A 3: 40,608,524 (GRCm39) A161T probably damaging Het
Kcnmb2 A G 3: 32,233,141 (GRCm39) Y73C probably damaging Het
Lrit1 T C 14: 36,776,945 (GRCm39) F22L probably benign Het
Lrp1b A T 2: 41,174,156 (GRCm39) C699* probably null Het
Lrrc8d A G 5: 105,959,992 (GRCm39) D134G probably benign Het
Map1b T C 13: 99,567,645 (GRCm39) D1692G unknown Het
Met C T 6: 17,491,967 (GRCm39) S243F probably damaging Het
Mlph C A 1: 90,855,882 (GRCm39) H96Q probably damaging Het
Mycbp2 A T 14: 103,372,582 (GRCm39) V4088D probably damaging Het
Nampt T A 12: 32,898,658 (GRCm39) S425T probably damaging Het
Nts G A 10: 102,320,856 (GRCm39) H78Y probably benign Het
Nxf1 A G 19: 8,745,151 (GRCm39) E467G possibly damaging Het
Olfml2a C A 2: 38,841,155 (GRCm39) D230E probably benign Het
Or4b13 C A 2: 90,082,771 (GRCm39) C187F probably benign Het
Or52n2c C T 7: 104,574,599 (GRCm39) R124H probably benign Het
Pcsk5 A G 19: 17,432,045 (GRCm39) probably null Het
Pde5a C A 3: 122,618,574 (GRCm39) T629K probably benign Het
Plcb3 G T 19: 6,940,202 (GRCm39) R462S possibly damaging Het
Pnpla6 T A 8: 3,574,156 (GRCm39) M469K probably benign Het
Pram1 A T 17: 33,860,386 (GRCm39) K318* probably null Het
Prkd1 T C 12: 50,388,826 (GRCm39) R906G probably benign Het
Ptprh T A 7: 4,576,361 (GRCm39) T300S possibly damaging Het
Rdh16f2 A G 10: 127,712,743 (GRCm39) Y247C probably benign Het
Rimbp3 A G 16: 17,028,781 (GRCm39) E735G probably damaging Het
Sall3 G A 18: 81,017,470 (GRCm39) P153S possibly damaging Het
Samd4b T A 7: 28,123,056 (GRCm39) M1L possibly damaging Het
Septin12 T C 16: 4,810,127 (GRCm39) E136G probably damaging Het
Shpk A T 11: 73,104,270 (GRCm39) K140* probably null Het
Sidt1 G T 16: 44,079,829 (GRCm39) F608L probably benign Het
Skint5 A G 4: 113,347,842 (GRCm39) Y1300H probably benign Het
Slc22a28 G A 19: 8,094,386 (GRCm39) P212S probably benign Het
Slc22a5 A T 11: 53,758,359 (GRCm39) F480L possibly damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc3a1 C T 17: 85,335,951 (GRCm39) P31L probably benign Het
Slc4a7 T C 14: 14,793,964 (GRCm38) V1074A possibly damaging Het
Snx2 C T 18: 53,342,697 (GRCm39) Q254* probably null Het
Sox30 G A 11: 45,882,769 (GRCm39) V600I probably benign Het
Svil T G 18: 5,106,724 (GRCm39) V1855G probably damaging Het
Tdpoz9 A G 3: 93,957,408 (GRCm39) F7L probably benign Het
Tdrd7 A G 4: 46,005,486 (GRCm39) T431A probably benign Het
Tenm2 A T 11: 36,054,544 (GRCm39) probably null Het
Tigar A G 6: 127,068,164 (GRCm39) S85P probably benign Het
Tnr A C 1: 159,740,254 (GRCm39) M1143L probably benign Het
Trio G T 15: 27,891,465 (GRCm39) Q429K possibly damaging Het
Urb1 T C 16: 90,585,985 (GRCm39) I452M probably benign Het
Uroc1 A T 6: 90,324,910 (GRCm39) E461V probably benign Het
Vax1 C A 19: 59,157,036 (GRCm39) R99L unknown Het
Xab2 A T 8: 3,663,051 (GRCm39) I510N possibly damaging Het
Zbtb34 A T 2: 33,301,842 (GRCm39) I233K possibly damaging Het
Zbtb47 A G 9: 121,592,598 (GRCm39) E306G probably benign Het
Zfp27 A G 7: 29,593,727 (GRCm39) F746S probably damaging Het
Zfp719 C T 7: 43,239,050 (GRCm39) Q213* probably null Het
Zswim6 T C 13: 107,865,112 (GRCm39) noncoding transcript 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
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'- AATGTCGTACCACCCAGGAC -3'
(R):5'- TGAAGGGGAAAGTGCCTTGTC -3'

Posted On 2017-07-14