Mutagenetix > Incidental Mutations

Incidental Mutation 'R7077:Exosc9'

549263

Institutional Source

Beutler Lab

Gene Symbol

Exosc9

Ensembl Gene

ENSMUSG00000027714

Gene Name

exosome component 9

Synonyms

RRP45, PM/Scl-75, p6, p5, Pmscl1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36552606-36565727 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36553056 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 30 (Y30H)

Ref Sequence

ENSEMBL: ENSMUSP00000029269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029269] [ENSMUST00000136890] [ENSMUST00000155866]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029269
AA Change: Y30H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029269
Gene: ENSMUSG00000027714
AA Change: Y30H

Domain	Start	End	E-Value	Type
Pfam:RNase_PH	31	163	1.7e-25	PFAM
Pfam:RNase_PH_C	189	255	3.4e-14	PFAM
low complexity region	308	324	N/A	INTRINSIC
low complexity region	348	366	N/A	INTRINSIC
low complexity region	396	406	N/A	INTRINSIC
low complexity region	425	435	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136890

SMART Domains

Protein: ENSMUSP00000121047
Gene: ENSMUSG00000027714

Domain	Start	End	E-Value	Type
Pfam:RNase_PH	1	79	3e-16	PFAM
Pfam:RNase_PH_C	105	147	3.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155866
AA Change: Y30H

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000122189
Gene: ENSMUSG00000027714
AA Change: Y30H

Domain	Start	End	E-Value	Type
Pfam:RNase_PH	31	163	2.6e-25	PFAM
Pfam:RNase_PH_C	189	241	1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156100

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma autoantigen complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	C	T	12: 81,559,119	C623Y	probably damaging	Het
Ago3	T	C	4: 126,371,532	K322R	probably null	Het
Ankrd17	T	C	5: 90,285,864	H682R	possibly damaging	Het
Aoah	A	G	13: 20,910,106	D187G	probably damaging	Het
Arhgap17	T	C	7: 123,280,008	D840G	unknown	Het
AW551984	C	T	9: 39,591,427	V650I	probably benign	Het
BC051142	C	A	17: 34,440,882	T93N	possibly damaging	Het
Bok	T	A	1: 93,689,189	Y86N	probably damaging	Het
Ccdc146	T	A	5: 21,305,274	N580I	possibly damaging	Het
Ccng2	T	C	5: 93,269,340	S72P	possibly damaging	Het
Cfap74	T	G	4: 155,455,677	I977S	unknown	Het
Cobl	T	C	11: 12,253,441	N1087S	probably benign	Het
Cyp21a1	C	A	17: 34,802,359	R346L	probably damaging	Het
Eif4a1	A	C	11: 69,670,664	F52L	probably damaging	Het
Eif4ebp2	A	C	10: 61,433,801	I120S	probably damaging	Het
Enpp2	A	C	15: 54,901,391	D146E	probably benign	Het
Fam117a	G	A	11: 95,377,672	G300S	probably benign	Het
Focad	C	A	4: 88,410,677	A1709E	unknown	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
Fsip2	T	C	2: 82,983,152	F3272L	probably benign	Het
Gcnt2	G	A	13: 40,860,420	M22I	probably benign	Het
Gjd4	T	C	18: 9,280,928	E50G	probably damaging	Het
Gm10375	G	T	14: 43,602,970	T162K	probably benign	Het
Gm10837	C	G	14: 122,490,730	A6G	unknown	Het
Gm4924	T	C	10: 82,379,223	F952L	unknown	Het
Heatr1	T	C	13: 12,418,164	F1132L	possibly damaging	Het
Hnrnpu	A	G	1: 178,332,191	Y442H	unknown	Het
Hp1bp3	C	A	4: 138,239,618	T408N	probably damaging	Het
Htra3	A	G	5: 35,668,316	V198A	probably damaging	Het
Katnal1	T	C	5: 148,891,737	T300A	probably benign	Het
Lipo5	G	T	19: 33,467,770	P133Q		Het
Lrp1b	A	T	2: 41,770,846	H197Q		Het
Mdc1	C	A	17: 35,845,947	A82D	probably damaging	Het
Mstn	A	T	1: 53,064,249	D248V	probably benign	Het
Myo1d	C	T	11: 80,674,634	E426K	probably damaging	Het
Ola1	G	A	2: 73,141,964	T221I	probably damaging	Het
Olfr1086	T	C	2: 86,676,892	Y147C	possibly damaging	Het
Olfr67	A	G	7: 103,787,386	I297T	probably damaging	Het
Olfr857	T	A	9: 19,713,132	S102T	probably benign	Het
Olfr898	T	A	9: 38,349,970	Y290N	probably damaging	Het
Phldb1	T	C	9: 44,711,904	T618A	possibly damaging	Het
Pkd1	T	G	17: 24,591,119	W3565G	probably damaging	Het
Prl3a1	A	T	13: 27,276,103	N190I	probably benign	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ptpn11	C	T	5: 121,143,570	R484Q	probably benign	Het
Rapgef4	T	C	2: 72,241,476	M900T	probably damaging	Het
Slc1a2	A	T	2: 102,777,510	D501V	probably benign	Het
Smarcd3	G	T	5: 24,594,962	A270D	probably damaging	Het
Srgap2	A	G	1: 131,344,449	M33T		Het
Tle1	G	C	4: 72,158,375	P139A	probably benign	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Zfp658	T	A	7: 43,573,989	S563T	probably benign	Het
Zswim9	G	A	7: 13,259,752	R826C	probably damaging	Het

Other mutations in Exosc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Exosc9	APN	3	36553139	unclassified	probably benign
IGL00949:Exosc9	APN	3	36563266	unclassified	probably benign
IGL01718:Exosc9	APN	3	36553929	unclassified	probably benign
IGL02072:Exosc9	APN	3	36554672	missense	probably damaging	1.00
IGL02217:Exosc9	APN	3	36552744	missense	probably damaging	0.99
IGL02439:Exosc9	APN	3	36553031	unclassified	probably benign
IGL02871:Exosc9	APN	3	36565281	missense	probably benign	0.00
IGL02994:Exosc9	APN	3	36553138	unclassified	probably benign
IGL03144:Exosc9	APN	3	36554135	missense	probably damaging	1.00
R0909:Exosc9	UTSW	3	36554704	missense	probably damaging	1.00
R1192:Exosc9	UTSW	3	36552755	unclassified	probably benign
R2516:Exosc9	UTSW	3	36563162	missense	probably benign
R4288:Exosc9	UTSW	3	36563216	missense	probably benign
R4770:Exosc9	UTSW	3	36553835	missense	probably damaging	0.98
R5875:Exosc9	UTSW	3	36561193	critical splice donor site	probably null
R5928:Exosc9	UTSW	3	36555625	intron	probably benign
R6120:Exosc9	UTSW	3	36554672	missense	probably damaging	1.00
R7340:Exosc9	UTSW	3	36561148	missense	possibly damaging	0.86
R7443:Exosc9	UTSW	3	36553841	missense	probably damaging	1.00
R7917:Exosc9	UTSW	3	36553819	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TACATTGTCAGTTCGGCCTG -3'
(R):5'- ACGTTTGGAATTCGGAGCTGC -3'

Sequencing Primer
(F):5'- TGCCCAGTGTGGACTCTC -3'
(R):5'- TTCGGAGCTGCTCAGTAAAC -3'

Posted On

2019-05-15