Mutagenetix > Incidental Mutation

Incidental Mutation 'R7340:Exosc9'

569750

Institutional Source

Beutler Lab

Gene Symbol

Exosc9

Ensembl Gene

ENSMUSG00000027714

Gene Name

exosome component 9

Synonyms

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

MMRRC Submission

045430-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7340 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36606755-36619876 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36615297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 262 (T262A)

Ref Sequence

ENSEMBL: ENSMUSP00000029269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029269] [ENSMUST00000029270] [ENSMUST00000136890] [ENSMUST00000147380] [ENSMUST00000155866] [ENSMUST00000196316]

AlphaFold

Q9JHI7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029269
AA Change: T262A

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029269
Gene: ENSMUSG00000027714
AA Change: T262A

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: ENSMUST00000029270

SMART Domains

Protein: ENSMUSP00000029270
Gene: ENSMUSG00000027715

Domain	Start	End	E-Value	Type
Pfam:Cyclin_N2	22	157	7.2e-50	PFAM
CYCLIN	206	290	1.07e-28	SMART
Cyclin_C	299	417	4.09e-31	SMART
CYCLIN	303	386	1.02e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131316

SMART Domains

Protein: ENSMUSP00000117235
Gene: ENSMUSG00000027714

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	47	65	N/A	INTRINSIC
low complexity region	95	105	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: ENSMUST00000147380

Predicted Effect

probably benign
Transcript: ENSMUST00000155866

SMART Domains

Protein: ENSMUSP00000122189
Gene: ENSMUSG00000027714

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: ENSMUST00000196316

SMART Domains

Protein: ENSMUSP00000142946
Gene: ENSMUSG00000027715

Domain	Start	End	E-Value	Type
CYCLIN	69	153	6.6e-31	SMART
Cyclin_C	162	280	2e-35	SMART
CYCLIN	166	249	6.1e-14	SMART

Meta Mutation Damage Score

0.1344

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Adam30	A	T	3: 98,069,637 (GRCm39)	N490I	probably benign	Het
Ankrd55	A	T	13: 112,492,497 (GRCm39)	I223F	probably damaging	Het
Ano8	T	A	8: 71,935,655 (GRCm39)	E321V	probably damaging	Het
Apc2	A	G	10: 80,149,316 (GRCm39)	K1457E	probably benign	Het
Asb15	T	A	6: 24,558,513 (GRCm39)	V38E	probably benign	Het
Atp4a	T	C	7: 30,416,155 (GRCm39)	S417P	possibly damaging	Het
AY358078	A	G	14: 52,063,716 (GRCm39)	N454S	probably damaging	Het
Cables2	A	G	2: 179,903,450 (GRCm39)	Y245H		Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,157,152 (GRCm39)		probably benign	Het
Camsap3	G	A	8: 3,637,960 (GRCm39)		probably null	Het
Ccdc178	A	T	18: 22,150,518 (GRCm39)	V705E	probably benign	Het
Ccdc47	T	C	11: 106,091,799 (GRCm39)	Q472R	possibly damaging	Het
Ccdc62	A	G	5: 124,089,283 (GRCm39)	D307G	probably damaging	Het
Cdcp3	A	G	7: 130,879,344 (GRCm39)	T1788A	unknown	Het
Cdh23	A	G	10: 60,366,775 (GRCm39)	I235T	probably benign	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cfap65	T	C	1: 74,960,742 (GRCm39)	N743D	probably benign	Het
Cimap1b	T	A	15: 89,262,610 (GRCm39)	T116S	probably benign	Het
Clec16a	A	G	16: 10,398,827 (GRCm39)	N329S	probably null	Het
Col25a1	A	G	3: 130,340,006 (GRCm39)		probably null	Het
Daam1	T	G	12: 72,035,713 (GRCm39)	D969E	probably benign	Het
Dntt	A	C	19: 41,047,004 (GRCm39)		probably null	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Dst	T	A	1: 34,229,810 (GRCm39)	Y2468N	probably benign	Het
Exph5	G	A	9: 53,288,309 (GRCm39)	A1797T	probably damaging	Het
Fbp2	A	T	13: 62,985,061 (GRCm39)	Y287N	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Fus	T	A	7: 127,581,123 (GRCm39)		probably null	Het
Galnt9	T	A	5: 110,762,054 (GRCm39)	N397K	probably damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gga1	A	G	15: 78,775,651 (GRCm39)	T369A	probably benign	Het
Gp1ba	T	C	11: 70,531,119 (GRCm39)	I295T	unknown	Het
Hk2	T	C	6: 82,705,873 (GRCm39)	E810G	probably benign	Het
Igsf10	A	G	3: 59,233,189 (GRCm39)	V1848A	probably damaging	Het
Insrr	G	A	3: 87,721,623 (GRCm39)		probably null	Het
Ip6k3	T	A	17: 27,367,504 (GRCm39)	M231L	probably benign	Het
Itgb8	T	C	12: 119,155,939 (GRCm39)	N171S	probably benign	Het
Ldlrad3	T	C	2: 101,897,184 (GRCm39)		probably null	Het
Ltbp1	T	A	17: 75,634,223 (GRCm39)	C886*	probably null	Het
Mettl13	T	C	1: 162,366,547 (GRCm39)	D444G	probably benign	Het
Mns1	A	G	9: 72,356,025 (GRCm39)	Y224C	probably damaging	Het
Mri1	C	T	8: 84,983,525 (GRCm39)	R122Q	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo5c	A	C	9: 75,196,423 (GRCm39)	K1290Q	probably benign	Het
Nlrp12	T	G	7: 3,281,755 (GRCm39)	Q842H	possibly damaging	Het
Oga	G	A	19: 45,755,895 (GRCm39)	Q583*	probably null	Het
Or14c44	T	C	7: 86,061,957 (GRCm39)	L129P	possibly damaging	Het
Or14j8	T	A	17: 38,263,413 (GRCm39)	R167S	probably benign	Het
Or2t1	A	T	14: 14,328,401 (GRCm38)	T97S	possibly damaging	Het
Or5d39	T	C	2: 87,979,620 (GRCm39)	T248A	possibly damaging	Het
Otoa	A	G	7: 120,729,288 (GRCm39)	T554A	probably benign	Het
Per1	A	G	11: 68,994,008 (GRCm39)	D438G	probably damaging	Het
Phactr3	G	A	2: 177,975,854 (GRCm39)	R533H	probably damaging	Het
Phykpl	T	C	11: 51,490,370 (GRCm39)	F417S	probably damaging	Het
Pole	A	T	5: 110,482,330 (GRCm39)	T2057S	probably benign	Het
Polq	A	G	16: 36,881,288 (GRCm39)	T1151A	probably benign	Het
Polr1g	T	C	7: 19,093,073 (GRCm39)	T36A	probably benign	Het
Rbm26	A	T	14: 105,389,976 (GRCm39)	V216E	possibly damaging	Het
Ryk	T	C	9: 102,775,737 (GRCm39)	I449T	probably damaging	Het
Sap25	A	G	5: 137,640,935 (GRCm39)	T225A	probably benign	Het
Sart3	A	G	5: 113,882,728 (GRCm39)	M864T	probably benign	Het
Sec31b	T	C	19: 44,517,161 (GRCm39)	S280G	probably benign	Het
Sema4d	A	T	13: 51,877,598 (GRCm39)	I78N	probably damaging	Het
Sgip1	G	C	4: 102,778,661 (GRCm39)	R419S	unknown	Het
Slc13a3	T	C	2: 165,272,210 (GRCm39)	I278V	probably benign	Het
Slc2a5	A	G	4: 150,224,439 (GRCm39)	D312G	probably benign	Het
Slc39a2	A	T	14: 52,131,660 (GRCm39)	Q77L	possibly damaging	Het
Srbd1	A	T	17: 86,443,782 (GRCm39)	V148E	probably benign	Het
Syngr2	A	G	11: 117,703,322 (GRCm39)	E46G	probably damaging	Het
Taok1	A	G	11: 77,470,643 (GRCm39)	V54A	possibly damaging	Het
Tas2r106	T	A	6: 131,655,185 (GRCm39)	H222L	probably damaging	Het
Tcaf3	A	G	6: 42,566,848 (GRCm39)	I747T	probably benign	Het
Tmem151b	G	T	17: 45,856,195 (GRCm39)	P415Q	probably benign	Het
Tmf1	T	C	6: 97,145,061 (GRCm39)	D659G	possibly damaging	Het
Tnn	G	T	1: 159,973,592 (GRCm39)	D258E	probably damaging	Het
Traj33	A	G	14: 54,422,862 (GRCm39)	I16V	unknown	Het
Ttll13	G	T	7: 79,906,772 (GRCm39)	C480F	probably damaging	Het
Ttn	T	C	2: 76,714,415 (GRCm39)	N8137S	unknown	Het
Vmn1r85	T	C	7: 12,819,073 (GRCm39)	N24D	probably damaging	Het
Wdr81	T	C	11: 75,335,525 (GRCm39)	Q649R	probably null	Het
Zan	T	C	5: 137,382,092 (GRCm39)	T5152A	unknown	Het
Zc3h6	A	G	2: 128,835,110 (GRCm39)	D82G	possibly damaging	Het

Other mutations in Exosc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Exosc9	APN	3	36,607,288 (GRCm39)	unclassified	probably benign
IGL00949:Exosc9	APN	3	36,617,415 (GRCm39)	unclassified	probably benign
IGL01718:Exosc9	APN	3	36,608,078 (GRCm39)	unclassified	probably benign
IGL02072:Exosc9	APN	3	36,608,821 (GRCm39)	missense	probably damaging	1.00
IGL02217:Exosc9	APN	3	36,606,893 (GRCm39)	missense	probably damaging	0.99
IGL02439:Exosc9	APN	3	36,607,180 (GRCm39)	unclassified	probably benign
IGL02871:Exosc9	APN	3	36,619,430 (GRCm39)	missense	probably benign	0.00
IGL02994:Exosc9	APN	3	36,607,287 (GRCm39)	unclassified	probably benign
IGL03144:Exosc9	APN	3	36,608,284 (GRCm39)	missense	probably damaging	1.00
R0909:Exosc9	UTSW	3	36,608,853 (GRCm39)	missense	probably damaging	1.00
R1192:Exosc9	UTSW	3	36,606,904 (GRCm39)	unclassified	probably benign
R2516:Exosc9	UTSW	3	36,617,311 (GRCm39)	missense	probably benign
R4288:Exosc9	UTSW	3	36,617,365 (GRCm39)	missense	probably benign
R4770:Exosc9	UTSW	3	36,607,984 (GRCm39)	missense	probably damaging	0.98
R5875:Exosc9	UTSW	3	36,615,342 (GRCm39)	critical splice donor site	probably null
R5928:Exosc9	UTSW	3	36,609,774 (GRCm39)	intron	probably benign
R6120:Exosc9	UTSW	3	36,608,821 (GRCm39)	missense	probably damaging	1.00
R7077:Exosc9	UTSW	3	36,607,205 (GRCm39)	missense	probably damaging	1.00
R7443:Exosc9	UTSW	3	36,607,990 (GRCm39)	missense	probably damaging	1.00
R7917:Exosc9	UTSW	3	36,607,968 (GRCm39)	missense	probably damaging	0.99
R8735:Exosc9	UTSW	3	36,609,662 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCTGTATTCCTGAGCACAC -3'
(R):5'- CTCAAGTCAGCTGTAGGGGAAG -3'

Sequencing Primer
(F):5'- GAGCACACTTTATCTGTGATCTCTG -3'
(R):5'- TTGAGCGGCAAACCAGC -3'

Posted On

2019-09-13