Mutagenetix > Incidental Mutation

Incidental Mutation 'R4989:Drosha'

386079

Institutional Source

Beutler Lab

Gene Symbol

Drosha

Ensembl Gene

ENSMUSG00000022191

Gene Name

drosha, ribonuclease type III

Synonyms

Etohi2, 1110013A17Rik, Rnasen

MMRRC Submission

042583-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R4989 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12824901-12935377 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12935093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1336 (M1336K)

Ref Sequence

ENSEMBL: ENSMUSP00000129279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090292] [ENSMUST00000169061]

AlphaFold

Q5HZJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000090292
AA Change: M1336K

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000087762
Gene: ENSMUSG00000022191
AA Change: M1336K

Domain	Start	End	E-Value	Type
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
AA Change: M978K

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000169061
AA Change: M1336K

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000129279
Gene: ENSMUSG00000022191
AA Change: M1336K

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.2364

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (115/115)

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Acot6	A	G	12: 84,155,789 (GRCm39)	K246E	probably benign	Het
Actl11	T	A	9: 107,808,615 (GRCm39)	H979Q	probably damaging	Het
Adal	T	A	2: 120,986,030 (GRCm39)		probably benign	Het
Add2	G	A	6: 86,087,840 (GRCm39)	V596I	probably benign	Het
Adrb3	A	C	8: 27,717,798 (GRCm39)	M217R	probably damaging	Het
Ank1	T	C	8: 23,631,134 (GRCm39)		probably benign	Het
Ank2	A	T	3: 126,757,094 (GRCm39)	N1054K	possibly damaging	Het
Ankib1	T	C	5: 3,763,217 (GRCm39)	Y504C	probably damaging	Het
Ankrd29	T	C	18: 12,395,242 (GRCm39)	K217R	probably damaging	Het
Ankrd45	T	C	1: 160,982,876 (GRCm39)	V129A	probably damaging	Het
Aox4	A	T	1: 58,275,835 (GRCm39)	D389V	probably benign	Het
Aph1a	G	T	3: 95,802,843 (GRCm39)	G148W	probably damaging	Het
Arhgef26	G	A	3: 62,247,806 (GRCm39)	D297N	possibly damaging	Het
Atxn7l3b	C	A	10: 112,764,649 (GRCm39)		probably benign	Het
Auh	A	G	13: 52,995,065 (GRCm39)	S167P	probably damaging	Het
Bach1	A	T	16: 87,515,888 (GRCm39)	K143I	possibly damaging	Het
Bbx	T	A	16: 50,045,101 (GRCm39)	T487S	probably damaging	Het
Bche	T	G	3: 73,609,177 (GRCm39)	D83A	probably benign	Het
Bri3bp	G	T	5: 125,518,760 (GRCm39)		probably benign	Het
Cd3d	A	T	9: 44,896,296 (GRCm39)	E28D	probably damaging	Het
Cdc42bpa	A	G	1: 179,965,366 (GRCm39)	T1028A	probably damaging	Het
Ceacam23	A	G	7: 17,639,143 (GRCm39)		probably null	Het
Celsr2	T	C	3: 108,319,945 (GRCm39)	I956V	possibly damaging	Het
Cep95	A	T	11: 106,707,480 (GRCm39)		probably null	Het
Cic	G	T	7: 24,986,535 (GRCm39)	G1289C	probably damaging	Het
Cndp1	A	G	18: 84,650,025 (GRCm39)	Y223H	probably damaging	Het
Cops8	A	G	1: 90,538,724 (GRCm39)	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,913,623 (GRCm39)	E194G	probably benign	Het
Ctsm	A	G	13: 61,686,776 (GRCm39)	Y39H	probably damaging	Het
Dhrs2	T	C	14: 55,474,722 (GRCm39)	V119A	probably damaging	Het
Dsp	G	A	13: 38,381,678 (GRCm39)	D2808N	possibly damaging	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Epas1	A	G	17: 87,116,882 (GRCm39)	N184S	probably damaging	Het
Erich3	C	T	3: 154,454,025 (GRCm39)	T597I	possibly damaging	Het
F10	T	C	8: 13,105,698 (GRCm39)	V421A	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fcgrt	C	T	7: 44,751,372 (GRCm39)	G192D	probably benign	Het
Fras1	A	G	5: 96,798,541 (GRCm39)	E1184G	possibly damaging	Het
Garre1	A	C	7: 33,945,225 (GRCm39)	Y552D	probably damaging	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gvin-ps5	A	T	7: 105,928,664 (GRCm39)		noncoding transcript	Het
Hadh	A	T	3: 131,029,197 (GRCm39)	L274*	probably null	Het
Hus1	T	C	11: 8,956,027 (GRCm39)	S169G	probably damaging	Het
Hydin	A	T	8: 111,290,554 (GRCm39)	I3338F	possibly damaging	Het
Ighv11-1	T	G	12: 113,945,768 (GRCm39)	E28D	probably benign	Het
Kctd9	C	T	14: 67,966,805 (GRCm39)	T106I	probably damaging	Het
Krit1	A	T	5: 3,872,238 (GRCm39)	N421I	probably damaging	Het
Lamb1	A	G	12: 31,376,677 (GRCm39)	D1619G	probably damaging	Het
Lpar6	G	A	14: 73,476,147 (GRCm39)	C36Y	probably damaging	Het
Lrrc37a	G	C	11: 103,347,565 (GRCm39)	F3043L	unknown	Het
Lrrc46	A	T	11: 96,931,765 (GRCm39)	V19D	probably damaging	Het
Mapkap1	G	T	2: 34,471,303 (GRCm39)	S197I	probably damaging	Het
Mrps35	A	C	6: 146,961,645 (GRCm39)	K173N	possibly damaging	Het
Mtf2	A	G	5: 108,220,894 (GRCm39)		probably benign	Het
Ncf1	A	C	5: 134,252,267 (GRCm39)	D261E	probably damaging	Het
Notch1	C	T	2: 26,371,193 (GRCm39)	E298K	probably damaging	Het
Nrxn1	A	T	17: 90,928,274 (GRCm39)		probably benign	Het
Or13a18	C	A	7: 140,190,304 (GRCm39)	A75E	possibly damaging	Het
Or4x13	T	A	2: 90,231,107 (GRCm39)	M34K	probably benign	Het
Or52a33	A	G	7: 103,289,308 (GRCm39)	F13S	probably damaging	Het
Or5k3	T	C	16: 58,969,981 (GRCm39)	L256P	probably damaging	Het
Or5v1	G	T	17: 37,810,017 (GRCm39)	L158F	probably benign	Het
Otud4	G	A	8: 80,382,318 (GRCm39)	V176I	probably damaging	Het
Pakap	T	A	4: 57,856,552 (GRCm39)	V668E	probably benign	Het
Papolg	T	C	11: 23,823,919 (GRCm39)		probably null	Het
Pgk2	A	G	17: 40,518,402 (GRCm39)	V342A	probably damaging	Het
Phf2	G	A	13: 48,961,320 (GRCm39)	A790V	unknown	Het
Prkdc	T	C	16: 15,491,861 (GRCm39)	I602T	possibly damaging	Het
Prl3d3	T	C	13: 27,343,072 (GRCm39)	I86T	possibly damaging	Het
Prss8	G	T	7: 127,525,635 (GRCm39)	Q295K	probably benign	Het
Ptpre	C	T	7: 135,270,861 (GRCm39)	H346Y	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pwwp3a	T	C	10: 80,068,702 (GRCm39)	L282P	probably benign	Het
Qrfpr	A	G	3: 36,276,285 (GRCm39)	V35A	probably damaging	Het
Rpf1	A	G	3: 146,212,293 (GRCm39)	L349S	probably damaging	Het
Rpl41	G	T	10: 128,384,652 (GRCm39)		probably null	Het
Rprd2	G	C	3: 95,672,632 (GRCm39)	R924G	probably benign	Het
Serpini1	T	A	3: 75,521,795 (GRCm39)	N95K	probably benign	Het
Sfxn1	A	T	13: 54,242,933 (GRCm39)	T64S	probably benign	Het
Siae	T	G	9: 37,557,816 (GRCm39)	I541S	possibly damaging	Het
Slc25a4	T	A	8: 46,660,509 (GRCm39)	K296N	probably benign	Het
Slc37a1	A	G	17: 31,541,120 (GRCm39)	N204S	probably damaging	Het
Slc9c1	A	G	16: 45,413,800 (GRCm39)	N976S	probably benign	Het
Smarcal1	T	C	1: 72,672,019 (GRCm39)	S847P	possibly damaging	Het
Smg1	A	T	7: 117,757,323 (GRCm39)		probably benign	Het
Smg1	C	T	7: 117,807,274 (GRCm39)	A168T	probably benign	Het
Sptlc1	A	G	13: 53,505,692 (GRCm39)	I242T	probably damaging	Het
St8sia2	T	C	7: 73,616,709 (GRCm39)	I89V	possibly damaging	Het
Supt20	A	T	3: 54,602,555 (GRCm39)		probably benign	Het
Tep1	T	C	14: 51,076,457 (GRCm39)	D1659G	probably benign	Het
Tex10	C	A	4: 48,458,525 (GRCm39)		probably benign	Het
Thbs3	CAGAAG	CAG	3: 89,130,409 (GRCm39)		probably benign	Het
Tmbim6	C	A	15: 99,299,950 (GRCm39)	S22*	probably null	Het
Tmc2	A	T	2: 130,043,961 (GRCm39)	K65M	possibly damaging	Het
Tmod1	A	G	4: 46,090,872 (GRCm39)	S142G	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trmt6	T	C	2: 132,650,191 (GRCm39)	R349G	possibly damaging	Het
Ttn	T	A	2: 76,537,586 (GRCm39)	T26454S	possibly damaging	Het
Ttn	C	T	2: 76,605,122 (GRCm39)	V16555I	probably benign	Het
Tut4	T	A	4: 108,384,042 (GRCm39)		probably benign	Het
Ubr3	T	C	2: 69,850,790 (GRCm39)		probably benign	Het
Vmn1r17	A	C	6: 57,337,460 (GRCm39)	F253V	possibly damaging	Het
Vmn1r201	G	T	13: 22,659,622 (GRCm39)	A279S	possibly damaging	Het
Vmn2r17	A	T	5: 109,575,739 (GRCm39)	R203S	probably benign	Het
Vwa5a	A	G	9: 38,633,926 (GRCm39)	E43G	probably benign	Het
Wdr86	C	T	5: 24,917,843 (GRCm39)		probably null	Het
Wdsub1	A	T	2: 59,700,758 (GRCm39)		probably benign	Het
Zcchc7	T	C	4: 44,931,039 (GRCm39)	L76P	probably damaging	Het
Zfp108	G	T	7: 23,960,163 (GRCm39)	K251N	probably benign	Het
Zfp263	T	C	16: 3,566,992 (GRCm39)	C148R	probably damaging	Het
Zfp687	A	C	3: 94,917,697 (GRCm39)	F692V	probably damaging	Het

Other mutations in Drosha

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- CCAATCCAGACTTGTGGTGTATG -3'
(R):5'- AAAACCAGGCTAGGTCTCGATG -3'

Sequencing Primer
(F):5'- ATCCAGACTTGTGGTGTATGTATGTG -3'
(R):5'- ATGGGCCACAGTCACAGTTCTTAG -3'

Posted On

2016-05-10