Mutagenetix > Incidental Mutation

Incidental Mutation 'R7727:Drosha'

595584

Institutional Source

Beutler Lab

Gene Symbol

Drosha

Ensembl Gene

ENSMUSG00000022191

Gene Name

drosha, ribonuclease type III

Synonyms

1110013A17Rik, Rnasen, Etohi2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R7727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12824815-12935291 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12881645 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 754 (D754G)

Ref Sequence

ENSEMBL: ENSMUSP00000087762 (fasta)

Gene Model

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

AlphaFold

Q5HZJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000090292
AA Change: D754G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087762
Gene: ENSMUSG00000022191
AA Change: D754G

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

probably damaging
Transcript: ENSMUST00000169061
AA Change: D754G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129279
Gene: ENSMUSG00000022191
AA Change: D754G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	A	6: 41,033,193	R69L	probably benign	Het
Adamts5	A	T	16: 85,899,966	L101Q	probably damaging	Het
Arhgap18	A	T	10: 26,870,011	I293F	possibly damaging	Het
Atp8b1	T	A	18: 64,545,275	Q850L	probably damaging	Het
B4galnt3	A	T	6: 120,225,187	F118Y	probably benign	Het
Bcl6	A	G	16: 23,971,413		probably null	Het
Cc2d2b	T	A	19: 40,756,530	L31Q	probably benign	Het
Cd5l	G	T	3: 87,367,855	E234*	probably null	Het
Cfap65	T	C	1: 74,926,625	T409A	probably benign	Het
Chst5	A	T	8: 111,890,925	I21N	probably benign	Het
Cldn20	T	C	17: 3,532,755	Y68H	probably benign	Het
Col4a4	T	C	1: 82,528,793	M269V	unknown	Het
Dgkh	A	G	14: 78,595,145		probably null	Het
Dpp6	A	G	5: 27,451,244	T166A	probably benign	Het
Epb41l4a	C	A	18: 33,854,273	K350N	probably damaging	Het
Fsd1	T	G	17: 55,988,150	D46E	probably benign	Het
Gabra1	T	C	11: 42,133,591	D419G	probably damaging	Het
Golga4	T	A	9: 118,548,702	D458E	probably damaging	Het
Grm6	C	A	11: 50,851,542	A134E	probably benign	Het
Ikzf1	T	A	11: 11,748,339	S63R	probably damaging	Het
Ilvbl	G	A	10: 78,576,666	V74I	probably benign	Het
Kcng2	C	T	18: 80,296,090	V328M	probably benign	Het
Kpna7	T	C	5: 145,005,045	E145G	probably benign	Het
Krt81	A	G	15: 101,459,567	V428A	probably damaging	Het
Lalba	T	C	15: 98,482,668	M2V	probably benign	Het
Lrpprc	T	C	17: 84,776,947	S113G	probably benign	Het
Mboat1	A	C	13: 30,226,306	M249L	probably benign	Het
Meltf	T	C	16: 31,883,794	V113A	probably damaging	Het
Muc16	T	A	9: 18,660,242	H327L	unknown	Het
Myh1	A	G	11: 67,215,922	I1277V	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Naga	C	A	15: 82,330,147	V388L	probably benign	Het
Nfkb1	A	C	3: 135,585,401	M957R	possibly damaging	Het
Nol12	C	A	15: 78,940,593	S157*	probably null	Het
Olfr1000	A	G	2: 85,608,407	F168L	possibly damaging	Het
Olfr1038-ps	A	T	2: 86,122,496	D191V	possibly damaging	Het
Olfr272	A	G	4: 52,911,368	V142A	possibly damaging	Het
Pcdhga5	T	C	18: 37,695,045	V182A	probably benign	Het
Pik3r4	A	G	9: 105,669,882	E953G	probably damaging	Het
Piwil2	C	T	14: 70,394,057	R646Q	probably damaging	Het
Plxnc1	T	C	10: 94,944,109	H157R	probably damaging	Het
Prrg4	A	T	2: 104,839,378	F131L	probably benign	Het
Rab28	A	G	5: 41,707,970	S4P	probably damaging	Het
Ranbp2	C	A	10: 58,455,438	Q209K	probably benign	Het
Schip1	G	A	3: 68,064,984	D15N	probably benign	Het
Serpina3f	T	G	12: 104,218,218	M207R	probably benign	Het
Sgsm1	A	T	5: 113,274,327	M487K	possibly damaging	Het
Sh3tc2	A	T	18: 61,989,580	I471F	probably benign	Het
Slamf1	G	A	1: 171,774,899	V65I	possibly damaging	Het
Slit3	T	C	11: 35,684,044	C1062R	probably damaging	Het
Snapc4	T	G	2: 26,373,434	K344N	probably damaging	Het
Sorl1	A	G	9: 41,984,526	Y1778H	probably damaging	Het
Spon2	G	A	5: 33,215,675	R228C	probably damaging	Het
Sv2c	A	G	13: 95,976,695	I582T	possibly damaging	Het
Tamm41	C	T	6: 115,016,178	V205M	probably damaging	Het
Tmem2	C	T	19: 21,829,957	L917F	probably benign	Het
Trpm2	T	C	10: 77,925,789	D1009G	probably benign	Het
Trpm6	T	C	19: 18,854,249	S1493P	probably damaging	Het
Ttc34	G	A	4: 154,839,274	V147I	possibly damaging	Het
Uba2	C	T	7: 34,150,850	A393T	probably damaging	Het
Ubn2	T	A	6: 38,463,938	N416K	probably benign	Het
Uevld	T	C	7: 46,943,805	N233S	probably benign	Het
Upp2	G	A	2: 58,774,148	M142I	possibly damaging	Het
Vps52	T	A	17: 33,962,134	V450D	probably benign	Het
Wdr31	A	T	4: 62,460,636	F118Y	probably damaging	Het
Zcchc6	A	G	13: 59,799,682	F942L	probably benign	Het
Zfp110	T	A	7: 12,848,995	D523E	possibly damaging	Het
Zfp367	A	T	13: 64,145,643	V143D	probably damaging	Het
Zfp950	T	C	19: 61,119,941	I235V	probably benign	Het

Other mutations in Drosha

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00576:Drosha	APN	15	12883194	missense	probably damaging	0.99
IGL00736:Drosha	APN	15	12833959	missense	unknown
IGL00963:Drosha	APN	15	12925997	missense	probably damaging	0.99
IGL01010:Drosha	APN	15	12827289	unclassified	probably benign
IGL01340:Drosha	APN	15	12834023	intron	probably benign
IGL01481:Drosha	APN	15	12842439	missense	probably benign
IGL01714:Drosha	APN	15	12878784	missense	probably damaging	1.00
IGL01721:Drosha	APN	15	12846112	nonsense	probably null
IGL01765:Drosha	APN	15	12902680	missense	probably damaging	1.00
IGL01893:Drosha	APN	15	12866650	splice site	probably benign
IGL01944:Drosha	APN	15	12889719	missense	probably damaging	1.00
IGL02285:Drosha	APN	15	12833864	missense	unknown
IGL02970:Drosha	APN	15	12913956	missense	probably damaging	0.98
IGL02990:Drosha	APN	15	12827267	unclassified	probably benign
IGL03019:Drosha	APN	15	12846099	missense	probably damaging	1.00
IGL03279:Drosha	APN	15	12859392	missense	probably benign	0.03
IGL03390:Drosha	APN	15	12884983	splice site	probably null
tippicanoe	UTSW	15	12859465	splice site	probably null
Tyler	UTSW	15	12861706	missense	probably benign	0.45
R0115:Drosha	UTSW	15	12846130	missense	probably benign	0.15
R0352:Drosha	UTSW	15	12837288	missense	unknown
R0401:Drosha	UTSW	15	12926031	nonsense	probably null
R0541:Drosha	UTSW	15	12907388	missense	probably benign	0.09
R0784:Drosha	UTSW	15	12867678	splice site	probably benign
R0918:Drosha	UTSW	15	12842533	critical splice donor site	probably null
R1473:Drosha	UTSW	15	12912520	missense	probably benign	0.04
R1503:Drosha	UTSW	15	12848073	missense	probably benign	0.02
R1526:Drosha	UTSW	15	12913984	missense	probably damaging	1.00
R1809:Drosha	UTSW	15	12890112	missense	probably null	1.00
R1859:Drosha	UTSW	15	12878718	missense	probably benign	0.14
R2004:Drosha	UTSW	15	12915381	missense	probably damaging	0.98
R2060:Drosha	UTSW	15	12924159	missense	possibly damaging	0.94
R2516:Drosha	UTSW	15	12859465	splice site	probably null
R3691:Drosha	UTSW	15	12834638	missense	unknown
R3784:Drosha	UTSW	15	12890529	missense	possibly damaging	0.82
R3789:Drosha	UTSW	15	12912537	nonsense	probably null
R3790:Drosha	UTSW	15	12912537	nonsense	probably null
R4020:Drosha	UTSW	15	12837336	missense	possibly damaging	0.96
R4817:Drosha	UTSW	15	12914047	missense	probably damaging	0.97
R4989:Drosha	UTSW	15	12935007	missense	probably benign	0.05
R5080:Drosha	UTSW	15	12842143	missense	probably benign	0.01
R5132:Drosha	UTSW	15	12837291	missense	unknown
R5215:Drosha	UTSW	15	12885133	intron	probably benign
R5386:Drosha	UTSW	15	12842121	missense	probably benign
R5457:Drosha	UTSW	15	12926029	missense	probably benign	0.26
R5536:Drosha	UTSW	15	12929711	missense	possibly damaging	0.58
R5800:Drosha	UTSW	15	12865067	missense	probably damaging	1.00
R5800:Drosha	UTSW	15	12902647	missense	probably damaging	1.00
R5915:Drosha	UTSW	15	12935066	missense	probably damaging	0.97
R5988:Drosha	UTSW	15	12834496	intron	probably benign
R6033:Drosha	UTSW	15	12925999	missense	probably benign	0.25
R6033:Drosha	UTSW	15	12925999	missense	probably benign	0.25
R6063:Drosha	UTSW	15	12834070	intron	probably benign
R6391:Drosha	UTSW	15	12889717	nonsense	probably null
R6492:Drosha	UTSW	15	12861706	missense	probably benign	0.45
R6799:Drosha	UTSW	15	12912537	nonsense	probably null
R6870:Drosha	UTSW	15	12907393	missense	probably benign	0.17
R6920:Drosha	UTSW	15	12834310	missense	unknown
R7101:Drosha	UTSW	15	12865067	missense	probably damaging	1.00
R7142:Drosha	UTSW	15	12924146	missense	possibly damaging	0.70
R7275:Drosha	UTSW	15	12846083	missense	possibly damaging	0.73
R7337:Drosha	UTSW	15	12846199	missense	possibly damaging	0.80
R7471:Drosha	UTSW	15	12889656	missense	probably damaging	1.00
R7538:Drosha	UTSW	15	12926243	missense	probably damaging	1.00
R7559:Drosha	UTSW	15	12842422	missense	probably damaging	0.96
R7651:Drosha	UTSW	15	12859436	missense	probably benign	0.30
R7652:Drosha	UTSW	15	12859436	missense	probably benign	0.30
R7653:Drosha	UTSW	15	12859436	missense	probably benign	0.30
R7780:Drosha	UTSW	15	12848086	missense	probably benign	0.01
R8068:Drosha	UTSW	15	12883190	nonsense	probably null
R8283:Drosha	UTSW	15	12890501	missense	possibly damaging	0.47
R8523:Drosha	UTSW	15	12834322	missense	unknown
R8985:Drosha	UTSW	15	12924101	missense	possibly damaging	0.66
R9418:Drosha	UTSW	15	12885081	missense	probably benign	0.02
R9501:Drosha	UTSW	15	12928906	missense	probably damaging	1.00
R9674:Drosha	UTSW	15	12890084	missense	probably damaging	1.00
Z1177:Drosha	UTSW	15	12842092	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CGAAGACTTGTTTGCAGGGATG -3'
(R):5'- AGAAGCCCACTGAAGGTAGC -3'

Sequencing Primer
(F):5'- CAGGGATGACATTACAGTTTTTGCTC -3'
(R):5'- ACTGAAGGTAGCCCCTGC -3'

Posted On

2019-11-12