Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02368:Exosc3'

290814

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Exosc3

Ensembl Gene

ENSMUSG00000028322

Gene Name

exosome component 3

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.963) question?

Stock #

IGL02368

Quality Score

Status

Chromosome

Chromosomal Location

45316613-45342732 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45319671 bp

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]

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	A	G	18: 68,949,989		probably benign	Het
Abca17	C	A	17: 24,287,793	V1196L	probably benign	Het
Aldh4a1	G	A	4: 139,648,200	W540*	probably null	Het
Antxr2	G	A	5: 97,949,198	P352L	probably damaging	Het
Atic	C	T	1: 71,564,565		probably benign	Het
Cfhr1	A	G	1: 139,547,813		probably benign	Het
Clspn	T	C	4: 126,566,107	S207P	probably benign	Het
Depdc1b	A	C	13: 108,363,579	T209P	probably benign	Het
Eya2	T	A	2: 165,763,718	D347E	probably damaging	Het
Gm10748	G	T	3: 5,215,001		probably benign	Het
Gm17079	T	C	14: 51,693,067	N107S	possibly damaging	Het
Gpr68	A	G	12: 100,878,767	F173L	probably damaging	Het
Hgf	G	T	5: 16,564,794	V89F	possibly damaging	Het
Igsf10	A	T	3: 59,328,231	S1510T	probably benign	Het
Il4	A	T	11: 53,612,636	N22K	probably damaging	Het
Izumo2	T	G	7: 44,708,837	L32R	probably damaging	Het
Mark2	A	G	19: 7,284,490	L359P	probably damaging	Het
Myo15b	A	G	11: 115,877,002	K1376R	probably benign	Het
Ncam1	G	A	9: 49,543,083	R543*	probably null	Het
Pax2	A	G	19: 44,835,409	N347S	possibly damaging	Het
Ppargc1a	A	G	5: 51,474,156	L377P	probably benign	Het
Pum3	A	G	19: 27,425,957	V48A	probably benign	Het
Rad1	T	C	15: 10,493,251	Y255H	probably benign	Het
Rimbp2	C	T	5: 128,788,154		probably null	Het
Rpn2	A	G	2: 157,302,408	N330S	probably benign	Het
Rptn	A	G	3: 93,397,171	S604G	probably benign	Het
Rragc	A	G	4: 123,921,111	D200G	probably benign	Het
Slco4a1	T	G	2: 180,473,128	F615V	probably damaging	Het
Snx2	T	C	18: 53,189,721	S59P	probably benign	Het
Timp4	A	T	6: 115,246,399		probably null	Het
Tln2	A	G	9: 67,240,810		probably benign	Het
Txnrd1	C	A	10: 82,895,974		probably null	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
IGL02370: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

Posted On

2015-04-16