Mutagenetix > Incidental Mutation

Incidental Mutation 'R5132:Drosha'

395885

Institutional Source

Beutler Lab

Gene Symbol

Drosha

Ensembl Gene

ENSMUSG00000022191

Gene Name

drosha, ribonuclease type III

Synonyms

Etohi2, 1110013A17Rik, Rnasen

MMRRC Submission

042720-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R5132 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12824901-12935377 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12837377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 287 (D287G)

Ref Sequence

ENSEMBL: ENSMUSP00000129279 (fasta)

Gene Model

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

AlphaFold

Q5HZJ0

Predicted Effect

unknown
Transcript: ENSMUST00000090292
AA Change: D287G

SMART Domains

Protein: ENSMUSP00000087762
Gene: ENSMUSG00000022191
AA Change: D287G

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: ENSMUST00000150211

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156594

Predicted Effect

unknown
Transcript: ENSMUST00000169061
AA Change: D287G

SMART Domains

Protein: ENSMUSP00000129279
Gene: ENSMUSG00000022191
AA Change: D287G

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: ENSMUST00000198820

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (41/41)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	A	T	1: 156,469,402 (GRCm39)	K785*	probably null	Het
Acad11	A	T	9: 104,003,791 (GRCm39)	I628L	probably benign	Het
Ago1	T	C	4: 126,355,516 (GRCm39)	I98V	probably benign	Het
Bach2	A	G	4: 32,563,396 (GRCm39)		probably benign	Het
Calr3	C	T	8: 73,185,212 (GRCm39)		probably null	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cdc42ep3	C	T	17: 79,642,803 (GRCm39)	R39H	probably damaging	Het
Cyp2j5	T	C	4: 96,517,733 (GRCm39)	Y493C	probably damaging	Het
Ddx19b	A	T	8: 111,749,040 (GRCm39)	D66E	probably benign	Het
Gm8888	A	G	15: 96,664,892 (GRCm39)		noncoding transcript	Het
Gpr25	G	T	1: 136,188,103 (GRCm39)	A170E	probably damaging	Het
Gria1	A	G	11: 57,180,225 (GRCm39)	Y656C	probably damaging	Het
Grik5	C	T	7: 24,764,629 (GRCm39)	V145I	probably benign	Het
Htt	T	C	5: 35,063,023 (GRCm39)	V2885A	possibly damaging	Het
Larp6	A	G	9: 60,644,493 (GRCm39)	E211G	probably damaging	Het
Magi1	C	A	6: 93,660,072 (GRCm39)		probably null	Het
Mtbp	A	G	15: 55,421,965 (GRCm39)	S63G	possibly damaging	Het
Ndor1	A	T	2: 25,137,781 (GRCm39)	S513T	probably benign	Het
Nsd3	A	G	8: 26,168,855 (GRCm39)	D670G	possibly damaging	Het
Or10ag56	A	T	2: 87,139,282 (GRCm39)	M50L	probably damaging	Het
Or4k49	T	A	2: 111,495,344 (GRCm39)	Y258N	probably damaging	Het
Or5e1	T	C	7: 108,354,477 (GRCm39)	V138A	probably damaging	Het
Pcdh7	T	C	5: 57,885,463 (GRCm39)	V1061A	probably benign	Het
Pdia4	A	G	6: 47,773,669 (GRCm39)	I560T	probably benign	Het
Pomt2	A	G	12: 87,157,121 (GRCm39)	F733L	probably damaging	Het
Pprc1	T	C	19: 46,061,121 (GRCm39)		probably benign	Het
Prkca	T	C	11: 108,082,943 (GRCm39)		probably benign	Het
Pspc1	A	T	14: 56,960,707 (GRCm39)	S473T	probably benign	Het
Rgs12	A	G	5: 35,147,156 (GRCm39)		probably benign	Het
Scn3a	C	T	2: 65,298,548 (GRCm39)	V1384I	probably benign	Het
Serpinb6a	C	T	13: 34,102,305 (GRCm39)	D307N	probably benign	Het
Smap2	T	C	4: 120,830,370 (GRCm39)	E255G	possibly damaging	Het
Spmip6	A	G	4: 41,517,178 (GRCm39)		probably benign	Het
St7	A	T	6: 17,854,956 (GRCm39)	I298F	probably damaging	Het
Tgm7	A	G	2: 120,934,700 (GRCm39)	F93L	probably damaging	Het
Timm23	A	T	14: 31,915,902 (GRCm39)	D56E	probably damaging	Het
Tmem170	A	T	8: 112,596,357 (GRCm39)	M56K	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
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
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'- TATGAGAGACTTGAGCACTGGG -3'
(R):5'- TGGCACTGTACTTTCACACC -3'

Sequencing Primer
(F):5'- ACTGGGGACGCCATCTAACTG -3'
(R):5'- GTACTTTCACACCTCCCAGG -3'

Posted On

2016-06-21