Incidental Mutation 'IGL01340:Drosha'
ID 74810
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 # IGL01340
Quality Score
Status
Chromosome 15
Chromosomal Location 12824901-12935377 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 12834109 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: M71K
SMART Domains Protein: ENSMUSP00000087762
Gene: ENSMUSG00000022191
AA Change: M71K

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: M71K
SMART Domains Protein: ENSMUSP00000129279
Gene: ENSMUSG00000022191
AA Change: M71K

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T A 11: 110,021,453 (GRCm39) I1086L probably benign Het
Adam17 A T 12: 21,380,058 (GRCm39) C630* probably null Het
Adgrg5 T C 8: 95,664,257 (GRCm39) L289P probably damaging Het
Aplp1 G A 7: 30,143,843 (GRCm39) T64I probably damaging Het
Bdh1 T A 16: 31,275,661 (GRCm39) W261R probably damaging Het
Cadm2 A T 16: 66,581,672 (GRCm39) I202N possibly damaging Het
Cd209c C T 8: 3,995,892 (GRCm39) R6H probably benign Het
Cfap221 T A 1: 119,881,350 (GRCm39) I371F possibly damaging Het
Cfap44 A G 16: 44,224,493 (GRCm39) Y67C probably damaging Het
Cilp T C 9: 65,183,256 (GRCm39) S387P probably damaging Het
Cnot1 T C 8: 96,487,165 (GRCm39) D598G probably damaging Het
Col5a1 T C 2: 27,850,463 (GRCm39) L520P unknown Het
Cpvl A T 6: 53,873,436 (GRCm39) Y433* probably null Het
Cxcl1 G T 5: 91,039,434 (GRCm39) C59F probably damaging Het
Cyth3 T A 5: 143,670,190 (GRCm39) L33* probably null Het
Dnah2 T C 11: 69,384,010 (GRCm39) K1069E probably damaging Het
Fam83h T A 15: 75,875,885 (GRCm39) D484V probably damaging Het
Igsf3 C A 3: 101,346,995 (GRCm39) Y663* probably null Het
Kmt5c C T 7: 4,745,140 (GRCm39) R44* probably null Het
Kxd1 T C 8: 70,968,093 (GRCm39) probably null Het
Lars1 A G 18: 42,335,642 (GRCm39) V1158A probably benign Het
Lmf2 A G 15: 89,237,075 (GRCm39) F413S probably damaging Het
Mc4r C T 18: 66,992,229 (GRCm39) A295T probably benign Het
Mrc1 T C 2: 14,314,895 (GRCm39) probably null Het
Mtmr7 T C 8: 41,050,465 (GRCm39) Y110C probably damaging Het
Myd88 A C 9: 119,166,418 (GRCm39) probably benign Het
Ndc1 T C 4: 107,231,344 (GRCm39) V95A probably damaging Het
Ntrk1 T A 3: 87,696,021 (GRCm39) E163V possibly damaging Het
Or4p8 T C 2: 88,727,321 (GRCm39) T207A probably damaging Het
Pappa A T 4: 65,242,109 (GRCm39) D1491V possibly damaging Het
Phc3 T A 3: 30,984,033 (GRCm39) I673F possibly damaging Het
Pkhd1 A T 1: 20,593,201 (GRCm39) N1637K probably benign Het
Relb T C 7: 19,350,298 (GRCm39) I218V probably benign Het
Rgma T C 7: 73,067,078 (GRCm39) F111S probably damaging Het
Slco1a6 A T 6: 142,055,109 (GRCm39) N278K possibly damaging Het
Slfn9 A T 11: 82,872,577 (GRCm39) F720I probably benign Het
Snd1 T A 6: 28,883,368 (GRCm39) V741E probably benign Het
Snx6 C T 12: 54,801,094 (GRCm39) R185Q probably damaging Het
Spata31g1 A C 4: 42,971,984 (GRCm39) E439A possibly damaging Het
Telo2 G A 17: 25,319,103 (GRCm39) probably benign Het
Wdr91 A G 6: 34,881,514 (GRCm39) S278P probably benign Het
Xab2 A T 8: 3,664,381 (GRCm39) D277E probably damaging Het
Zbbx T C 3: 75,012,957 (GRCm39) E158G 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
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
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 2013-10-07