Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00963:Drosha'

29088

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 #

IGL00963

Quality Score

Status

Chromosome

Chromosomal Location

12824901-12935377 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12926083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1224 (I1224N)

Ref Sequence

ENSEMBL: ENSMUSP00000129279 (fasta)

Gene Model

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

AlphaFold

Q5HZJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000090292
AA Change: I1224N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087762
Gene: ENSMUSG00000022191
AA Change: I1224N

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: I866N

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 damaging
Transcript: ENSMUST00000169061
AA Change: I1224N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129279
Gene: ENSMUSG00000022191
AA Change: I1224N

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

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
AI606181	A	C	19: 41,582,228 (GRCm39)		probably benign	Het
Alyref2	C	T	1: 171,331,816 (GRCm39)	Q198*	probably null	Het
Ankrd13a	T	C	5: 114,939,863 (GRCm39)	S497P	probably damaging	Het
Chd5	C	A	4: 152,467,395 (GRCm39)	N1644K	probably damaging	Het
Col13a1	T	C	10: 61,674,476 (GRCm39)		probably benign	Het
Ctnna3	T	A	10: 64,781,728 (GRCm39)	D730E	probably damaging	Het
Dock11	A	G	X: 35,296,035 (GRCm39)	Q1197R	possibly damaging	Het
Dsc1	T	C	18: 20,245,043 (GRCm39)	K42R	probably null	Het
Engase	A	G	11: 118,373,824 (GRCm39)	D322G	probably damaging	Het
Ephb2	T	C	4: 136,386,262 (GRCm39)	D829G	probably benign	Het
Fgfr2	C	T	7: 129,830,491 (GRCm39)	M47I	probably damaging	Het
Gad1-ps	G	T	10: 99,281,310 (GRCm39)		noncoding transcript	Het
Gatb	A	G	3: 85,526,255 (GRCm39)	S378G	probably benign	Het
Hivep2	G	A	10: 14,005,091 (GRCm39)	S563N	probably damaging	Het
Irs2	G	A	8: 11,055,867 (GRCm39)	A855V	probably benign	Het
Jagn1	T	C	6: 113,424,436 (GRCm39)	S103P	probably damaging	Het
Kdm6a	T	A	X: 18,112,665 (GRCm39)		probably benign	Het
Lmcd1	T	C	6: 112,306,895 (GRCm39)	C356R	probably damaging	Het
Mefv	T	A	16: 3,533,584 (GRCm39)	Y229F	possibly damaging	Het
Myef2	T	C	2: 124,957,395 (GRCm39)	Y120C	probably damaging	Het
Myo9a	T	G	9: 59,807,655 (GRCm39)	I2074S	probably damaging	Het
Nhs	A	G	X: 160,630,045 (GRCm39)	S337P	probably damaging	Het
Nphp4	T	G	4: 152,622,318 (GRCm39)	H566Q	probably benign	Het
Or2d2	A	T	7: 106,728,272 (GRCm39)	C109*	probably null	Het
Or52z13	T	A	7: 103,246,844 (GRCm39)		probably null	Het
Pabpc2	C	A	18: 39,908,390 (GRCm39)	Q552K	possibly damaging	Het
Podn	T	A	4: 107,879,371 (GRCm39)	N104I	probably damaging	Het
Rit1	T	C	3: 88,633,738 (GRCm39)	V94A	probably damaging	Het
Scn7a	A	T	2: 66,534,289 (GRCm39)		probably benign	Het
Septin4	A	T	11: 87,474,199 (GRCm39)	K29M	possibly damaging	Het
Sowahb	T	C	5: 93,191,870 (GRCm39)	Y283C	probably damaging	Het
Srbd1	A	T	17: 86,422,637 (GRCm39)	W460R	probably damaging	Het
Svep1	T	A	4: 58,072,791 (GRCm39)	K2173*	probably null	Het
Tlr6	T	C	5: 65,112,019 (GRCm39)	N296S	possibly damaging	Het
Trpm8	A	G	1: 88,307,549 (GRCm39)	D1073G	possibly damaging	Het
Ttc28	A	T	5: 111,434,255 (GRCm39)	K2399*	probably null	Het
Ttn	A	G	2: 76,717,627 (GRCm39)		probably benign	Het
Uroc1	C	T	6: 90,315,810 (GRCm39)	T189I	probably benign	Het
Usp18	C	T	6: 121,232,341 (GRCm39)	Q122*	probably null	Het
Zfp420	T	C	7: 29,574,518 (GRCm39)	I246T	probably damaging	Het
Zfp644	T	C	5: 106,786,503 (GRCm39)		probably null	Het
Zfp871	A	T	17: 32,993,726 (GRCm39)	V483E	probably benign	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
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
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

2013-04-17