Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02370:Exosc3'

290896

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Exosc3

Ensembl Gene

ENSMUSG00000028322

Gene Name

exosome component 3

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

IGL02370

Quality Score

Status

Chromosome

Chromosomal Location

45316613-45342732 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45319671 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 117 (I117T)

Ref Sequence

ENSEMBL: ENSMUSP00000030003 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030003] [ENSMUST00000044673] [ENSMUST00000107800]

AlphaFold

Q7TQK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000030003
AA Change: I117T

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

SMART Domains

Protein: ENSMUSP00000030003
Gene: ENSMUSG00000028322
AA Change: I117T

Domain	Start	End	E-Value	Type
Blast:S1	111	180	4e-36	BLAST
Pfam:KH_6	196	243	3.6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000044673

SMART Domains

Protein: ENSMUSP00000041052
Gene: ENSMUSG00000035601

Domain	Start	End	E-Value	Type
low complexity region	76	95	N/A	INTRINSIC
low complexity region	110	122	N/A	INTRINSIC
Pfam:tRNA_m1G_MT	135	308	2.6e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107800

SMART Domains

Protein: ENSMUSP00000103429
Gene: ENSMUSG00000035601

Domain	Start	End	E-Value	Type
low complexity region	76	95	N/A	INTRINSIC
low complexity region	108	120	N/A	INTRINSIC
Pfam:tRNA_m1G_MT	133	306	1.6e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145756

Predicted Effect

unknown
Transcript: ENSMUST00000152056
AA Change: I29T

SMART Domains

Protein: ENSMUSP00000115532
Gene: ENSMUSG00000028322
AA Change: I29T

Domain	Start	End	E-Value	Type
Blast:S1	24	93	8e-38	BLAST
Pfam:KH_6	109	145	8e-13	PFAM

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 non-catalytic component of the human exosome, a complex with 3'-5' exoribonuclease activity that plays a role in numerous RNA processing and degradation activities. Related pseudogenes of this gene are found on chromosome 19 and 21. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a conditional ready allele appear phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	G	9: 103,263,074	V482A	probably benign	Het
4732471J01Rik	T	C	7: 25,384,888		probably benign	Het
Abra	T	C	15: 41,869,244	D142G	probably damaging	Het
Aldh9a1	A	G	1: 167,356,532	N199D	probably damaging	Het
Baz2b	A	T	2: 59,923,589	I1130N	possibly damaging	Het
Cacna1s	A	G	1: 136,085,347	I312V	probably damaging	Het
Chrd	A	G	16: 20,735,791	M367V	possibly damaging	Het
Clec12a	C	T	6: 129,354,576	A160V	possibly damaging	Het
Cnnm1	T	C	19: 43,471,950		probably null	Het
Cntnap3	A	T	13: 64,751,751	M976K	probably benign	Het
Cyp27b1	T	C	10: 127,050,674		probably benign	Het
Ddx54	T	A	5: 120,619,787	L226Q	probably damaging	Het
Dnah7a	A	G	1: 53,635,397	V407A	probably benign	Het
Elp4	A	G	2: 105,794,592	S201P	probably damaging	Het
Exoc3	A	T	13: 74,192,761	V308D	probably benign	Het
Gbx2	A	T	1: 89,929,149		probably benign	Het
Gm4858	A	G	3: 93,074,047	D124G	possibly damaging	Het
Hnf1b	A	C	11: 83,882,733	T253P	possibly damaging	Het
Itih5	A	T	2: 10,186,975	Y107F	probably benign	Het
Kcnb2	A	G	1: 15,710,935	N677S	probably benign	Het
Knstrn	T	A	2: 118,823,788		probably null	Het
Lin9	G	T	1: 180,688,018	C451F	probably damaging	Het
Mast1	A	C	8: 84,912,254	V1482G	probably benign	Het
Mroh4	A	G	15: 74,625,541	F144L	probably benign	Het
Myrf	T	C	19: 10,214,140	N945D	probably benign	Het
Nfrkb	G	A	9: 31,389,012	G33D	probably benign	Het
Olfr1036	C	A	2: 86,074,788	T16K	probably damaging	Het
P2ry13	T	C	3: 59,209,465	I297M	probably damaging	Het
Pcdhb21	T	A	18: 37,514,592		probably null	Het
Pitpnm3	A	G	11: 72,051,858	Y868H	probably benign	Het
Pou2f3	G	A	9: 43,137,348	R266W	probably damaging	Het
Rcn3	T	C	7: 45,083,333	S304G	probably benign	Het
Rinl	A	G	7: 28,794,972		probably null	Het
Sema5a	T	C	15: 32,682,299		probably benign	Het
Sipa1l2	A	G	8: 125,480,269	L565P	probably damaging	Het
Slc5a9	A	G	4: 111,877,629	I656T	probably benign	Het
Sptan1	A	G	2: 30,030,740	K2404R	probably damaging	Het
Tarsl2	C	A	7: 65,661,165	P314Q	probably benign	Het
Tbc1d14	C	T	5: 36,495,218	V627I	possibly damaging	Het
Tfcp2	A	T	15: 100,512,304	V394D	probably damaging	Het
Trerf1	C	T	17: 47,314,461		noncoding transcript	Het
Ucp2	A	G	7: 100,498,384	N190S	probably damaging	Het
Vmn2r124	A	G	17: 18,064,191	Q498R	probably benign	Het
Yeats2	T	A	16: 20,150,471	I4N	probably damaging	Het
Zfp574	T	G	7: 25,079,589	I12S	possibly damaging	Het
Zscan29	T	A	2: 121,163,833	E522V	probably benign	Het

Other mutations in Exosc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01366:Exosc3	APN	4	45317747	missense	probably damaging	1.00
IGL01860:Exosc3	APN	4	45319659	missense	probably benign
IGL02368:Exosc3	APN	4	45319671	missense	probably damaging	1.00
R0557:Exosc3	UTSW	4	45316957	missense	probably damaging	1.00
R0847:Exosc3	UTSW	4	45319695	missense	probably damaging	1.00
R4161:Exosc3	UTSW	4	45320619	intron	probably benign
R4723:Exosc3	UTSW	4	45319642	missense	probably benign	0.01
R5010:Exosc3	UTSW	4	45317702	missense	possibly damaging	0.60
R6929:Exosc3	UTSW	4	45320482	missense	probably damaging	0.99
R9273:Exosc3	UTSW	4	45316969	missense	probably damaging	1.00

Posted On

2015-04-16