Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02990:Drosha'

406907

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 #

IGL02990

Quality Score

Status

Chromosome

Chromosomal Location

12824901-12935377 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 12827353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154147 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057256] [ENSMUST00000090292] [ENSMUST00000169061] [ENSMUST00000227299] [ENSMUST00000228177]

AlphaFold

Q5HZJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000057256

SMART Domains

Protein: ENSMUSP00000055656
Gene: ENSMUSG00000022195

Domain	Start	End	E-Value	Type
Pfam:UPF0489	19	256	7.2e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090292

SMART Domains

Protein: ENSMUSP00000087762
Gene: ENSMUSG00000022191

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

noncoding transcript
Transcript: ENSMUST00000141706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147647

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156594

Predicted Effect

probably benign
Transcript: ENSMUST00000169061

SMART Domains

Protein: ENSMUSP00000129279
Gene: ENSMUSG00000022191

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 benign
Transcript: ENSMUST00000227299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228888

Predicted Effect

probably benign
Transcript: ENSMUST00000228177

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12b	G	T	11: 69,054,032 (GRCm39)	V205F	probably benign	Het
Ampd3	T	C	7: 110,407,170 (GRCm39)		probably benign	Het
Arhgef18	G	A	8: 3,494,904 (GRCm39)	V388I	probably benign	Het
Atp6v1c2	C	T	12: 17,344,741 (GRCm39)	V169I	probably damaging	Het
Ccdc88b	G	T	19: 6,824,777 (GRCm39)	L1328I	probably damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cluh	G	A	11: 74,558,591 (GRCm39)		probably null	Het
Cpsf7	C	A	19: 10,509,159 (GRCm39)	N23K	probably benign	Het
Cyp4x1	A	T	4: 114,978,946 (GRCm39)	F191L	probably benign	Het
Dcn	A	G	10: 97,345,835 (GRCm39)	T216A	probably benign	Het
Foxn4	A	G	5: 114,411,050 (GRCm39)	S24P	probably damaging	Het
Gm11733	A	T	11: 117,377,809 (GRCm39)		probably null	Het
Hapln1	A	C	13: 89,749,725 (GRCm39)	Y90S	probably benign	Het
Igf2r	C	A	17: 12,929,633 (GRCm39)		probably benign	Het
Jade2	A	G	11: 51,722,074 (GRCm39)		probably benign	Het
Kcnh7	A	T	2: 62,536,330 (GRCm39)	L1084H	probably benign	Het
Kif1a	T	C	1: 92,966,985 (GRCm39)	D1155G	probably damaging	Het
Llgl2	A	G	11: 115,745,159 (GRCm39)	M958V	probably benign	Het
Lrp2	A	G	2: 69,271,740 (GRCm39)	V4064A	possibly damaging	Het
Mau2	A	G	8: 70,474,905 (GRCm39)		probably benign	Het
Mllt10	T	C	2: 18,128,522 (GRCm39)		probably benign	Het
Myo15a	A	G	11: 60,370,266 (GRCm39)	T1009A	probably benign	Het
Myo6	T	C	9: 80,183,685 (GRCm39)		probably null	Het
Neil2	G	T	14: 63,429,258 (GRCm39)	H12N	possibly damaging	Het
Nrde2	T	C	12: 100,108,355 (GRCm39)	E412G	probably damaging	Het
Or14j3	C	T	17: 37,900,559 (GRCm39)	M228I	probably benign	Het
Or4c115	T	C	2: 88,927,473 (GRCm39)	Y266C	possibly damaging	Het
Patl2	T	G	2: 121,954,978 (GRCm39)		probably null	Het
Pkhd1	T	C	1: 20,593,187 (GRCm39)	H1642R	possibly damaging	Het
Ppp6r1	A	G	7: 4,646,022 (GRCm39)	I199T	possibly damaging	Het
Prom2	T	A	2: 127,370,734 (GRCm39)	T817S	probably benign	Het
Slc49a4	C	A	16: 35,555,861 (GRCm39)	V200F	possibly damaging	Het
Slc9b1	A	G	3: 135,100,744 (GRCm39)		probably null	Het
Sv2c	A	T	13: 96,224,886 (GRCm39)	I141K	probably damaging	Het
Tas2r139	A	T	6: 42,118,038 (GRCm39)	I57F	probably damaging	Het
Tep1	A	G	14: 51,105,703 (GRCm39)	S106P	possibly damaging	Het
Tnni3k	T	C	3: 154,663,395 (GRCm39)	D319G	probably benign	Het
Tom1l2	C	T	11: 60,121,062 (GRCm39)	D461N	probably damaging	Het
Ugt1a10	T	C	1: 87,983,601 (GRCm39)	L133S	probably damaging	Het
Usf2	T	G	7: 30,654,732 (GRCm39)	Q161P	probably benign	Het
Vmn1r15	A	G	6: 57,235,593 (GRCm39)	T154A	probably benign	Het
Vmn2r95	C	A	17: 18,672,298 (GRCm39)	Y678*	probably null	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
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

2016-08-02