Mutagenetix > Incidental Mutation

Incidental Mutation 'R6391:Drosha'

515779

Institutional Source

Beutler Lab

Gene Symbol

Drosha

Ensembl Gene

ENSMUSG00000022191

Gene Name

drosha, ribonuclease type III

Synonyms

Etohi2, 1110013A17Rik, Rnasen

MMRRC Submission

044540-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R6391 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12824901-12935377 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 12889803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 890 (C890*)

Ref Sequence

ENSEMBL: ENSMUSP00000129279 (fasta)

Gene Model

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

AlphaFold

Q5HZJ0

Predicted Effect

probably null
Transcript: ENSMUST00000090292
AA Change: C890*

SMART Domains

Protein: ENSMUSP00000087762
Gene: ENSMUSG00000022191
AA Change: C890*

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 null
Transcript: ENSMUST00000129031
AA Change: C532*

SMART Domains

Protein: ENSMUSP00000121499
Gene: ENSMUSG00000022191
AA Change: C532*

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

noncoding transcript
Transcript: ENSMUST00000141010

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150211

Predicted Effect

probably null
Transcript: ENSMUST00000169061
AA Change: C890*

SMART Domains

Protein: ENSMUSP00000129279
Gene: ENSMUSG00000022191
AA Change: C890*

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: 99.4%
20x: 98.2%

Validation Efficiency

98% (40/41)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl7b	G	T	5: 135,208,879 (GRCm39)	S114I	probably damaging	Het
Cct8	A	T	16: 87,284,566 (GRCm39)	M207K	probably benign	Het
Cnga1	A	G	5: 72,769,702 (GRCm39)		probably null	Het
Cst13	T	C	2: 148,670,111 (GRCm39)	C94R	probably damaging	Het
Cyp8b1	G	T	9: 121,744,864 (GRCm39)	S156*	probably null	Het
Dip2b	T	C	15: 100,049,157 (GRCm39)	S184P	probably damaging	Het
Dmbt1	T	C	7: 130,659,984 (GRCm39)	W516R	probably damaging	Het
Dock8	A	T	19: 25,072,914 (GRCm39)	Y398F	possibly damaging	Het
Eed	A	G	7: 89,626,149 (GRCm39)	S75P	probably benign	Het
Efcab3	T	C	11: 104,885,143 (GRCm39)	L4134S	possibly damaging	Het
Etaa1	A	C	11: 17,896,833 (GRCm39)	I428S	probably benign	Het
F5	A	T	1: 164,021,062 (GRCm39)	D1179V	probably damaging	Het
Fat1	T	C	8: 45,405,379 (GRCm39)	V710A	possibly damaging	Het
Fmo4	G	A	1: 162,621,538 (GRCm39)	Q558*	probably null	Het
Gm7361	A	G	5: 26,463,960 (GRCm39)	I72V	probably benign	Het
Grm4	A	G	17: 27,654,294 (GRCm39)	V552A	probably benign	Het
Krt13	T	A	11: 100,010,202 (GRCm39)	I260F	probably damaging	Het
Krtap3-3	T	C	11: 99,441,490 (GRCm39)	D49G	probably damaging	Het
Lpin1	T	C	12: 16,614,554 (GRCm39)	E409G	probably benign	Het
Ly9	A	G	1: 171,428,576 (GRCm39)	V238A	possibly damaging	Het
Map2k6	T	C	11: 110,381,703 (GRCm39)		probably null	Het
Mylk2	T	C	2: 152,759,315 (GRCm39)	L362P	probably damaging	Het
Or4c120	T	A	2: 89,000,942 (GRCm39)	I205F	probably benign	Het
Or4c3	A	G	2: 89,851,975 (GRCm39)	V145A	probably benign	Het
Or51a6	T	A	7: 102,604,622 (GRCm39)	Y69F	possibly damaging	Het
Pcdha9	G	A	18: 37,130,972 (GRCm39)	V14M	probably benign	Het
Pdzrn4	A	T	15: 92,578,418 (GRCm39)	E380D	probably damaging	Het
Piezo2	A	G	18: 63,239,364 (GRCm39)	Y739H	possibly damaging	Het
Pigk	A	G	3: 152,446,486 (GRCm39)	H195R	probably benign	Het
Plin2	T	C	4: 86,580,236 (GRCm39)	D175G	probably null	Het
Plk4	T	A	3: 40,763,408 (GRCm39)	H526Q	probably benign	Het
Pom121l12	A	T	11: 14,549,489 (GRCm39)	D65V	probably damaging	Het
Prb1a	T	C	6: 132,184,139 (GRCm39)	Y498C	unknown	Het
Sh3bp2	G	A	5: 34,718,947 (GRCm39)	V495I	probably damaging	Het
Slx4ip	T	A	2: 136,888,669 (GRCm39)	C117S	probably damaging	Het
Tmtc2	A	T	10: 105,409,551 (GRCm39)	S20R	probably benign	Het
Unc79	A	G	12: 102,987,269 (GRCm39)	Y186C	probably damaging	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Vmn2r26	T	C	6: 124,038,348 (GRCm39)	L641P	probably damaging	Het
Wdr17	A	T	8: 55,114,495 (GRCm39)	S674T	probably benign	Het
Zfp959	T	C	17: 56,202,854 (GRCm39)	F10L	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
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
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'- GCTTCAGGACTTTATGAGAGGG -3'
(R):5'- ACTGGGCTGCACGATTTTCC -3'

Sequencing Primer
(F):5'- CAGGACTTTATGAGAGGGAGTTTG -3'
(R):5'- GGGCTGCACGATTTTCCTAGAAC -3'

Posted On

2018-05-04