Mutagenetix > Incidental Mutation

Incidental Mutation 'R0847:Exosc3'

77001

Institutional Source

Beutler Lab

Gene Symbol

Exosc3

Ensembl Gene

ENSMUSG00000028322

Gene Name

exosome component 3

Synonyms

2310005D06Rik

MMRRC Submission

039026-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R0847 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45316613-45320616 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45319695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 109 (V109A)

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: V109A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030003
Gene: ENSMUSG00000028322
AA Change: V109A

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: V21A

SMART Domains

Protein: ENSMUSP00000115532
Gene: ENSMUSG00000028322
AA Change: V21A

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.2%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,895,764 (GRCm39)	I899T	probably damaging	Het
Ahnak	C	T	19: 8,983,797 (GRCm39)	Q1694*	probably null	Het
Cblc	A	T	7: 19,524,459 (GRCm39)	Y260*	probably null	Het
Ccn4	T	G	15: 66,791,124 (GRCm39)	C309G	probably damaging	Het
Ceacam5	A	G	7: 17,491,762 (GRCm39)	T711A	possibly damaging	Het
Cep63	A	G	9: 102,465,957 (GRCm39)	S690P	probably benign	Het
Chia1	A	T	3: 106,039,253 (GRCm39)	I448F	probably benign	Het
Dmxl2	A	T	9: 54,313,112 (GRCm39)	F1712I	probably damaging	Het
Ecpas	G	A	4: 58,841,439 (GRCm39)	T645I	probably benign	Het
Fxyd7	A	G	7: 30,744,029 (GRCm39)	C60R	probably damaging	Het
Gm17349	C	A	15: 99,600,289 (GRCm39)		probably benign	Het
Gpn2	A	G	4: 133,315,906 (GRCm39)	N199D	probably benign	Het
Ints12	C	T	3: 132,814,603 (GRCm39)	T270M	possibly damaging	Het
Kdm4a	C	T	4: 118,021,695 (GRCm39)	E266K	probably damaging	Het
Kremen2	G	T	17: 23,963,634 (GRCm39)	T50N	probably damaging	Het
Macf1	A	T	4: 123,293,159 (GRCm39)	D1249E	probably benign	Het
Mdga2	T	A	12: 66,769,854 (GRCm39)	K146N	probably damaging	Het
Med20	G	A	17: 47,922,618 (GRCm39)		probably null	Het
Myo18b	T	C	5: 113,022,354 (GRCm39)		probably benign	Het
Nav3	T	A	10: 109,739,718 (GRCm39)	T84S	possibly damaging	Het
Olfm2	A	G	9: 20,579,953 (GRCm39)	V266A	probably damaging	Het
Or5b101	A	T	19: 13,005,095 (GRCm39)	Y199*	probably null	Het
Or5b123	C	T	19: 13,596,915 (GRCm39)	H87Y	probably benign	Het
Or6c69b	T	A	10: 129,627,327 (GRCm39)	I44F	probably damaging	Het
Pthlh	A	T	6: 147,164,766 (GRCm39)		probably null	Het
Rpap3	C	T	15: 97,601,082 (GRCm39)		probably null	Het
Rprd2	A	G	3: 95,672,725 (GRCm39)	S893P	probably benign	Het
Sacm1l	G	A	9: 123,377,927 (GRCm39)	G69D	probably damaging	Het
Slc27a4	T	C	2: 29,701,261 (GRCm39)	S351P	probably benign	Het
Sobp	C	G	10: 42,898,415 (GRCm39)	R390P	probably damaging	Het
Spata7	T	A	12: 98,614,689 (GRCm39)	M107K	possibly damaging	Het
Sri	G	A	5: 8,113,755 (GRCm39)		probably null	Het
Stab2	T	C	10: 86,805,735 (GRCm39)	I204V	probably benign	Het
Synm	T	C	7: 67,384,804 (GRCm39)	I511V	probably damaging	Het
Tbr1	T	C	2: 61,635,373 (GRCm39)	S108P	probably benign	Het
Tln1	A	G	4: 43,555,333 (GRCm39)	F197S	probably damaging	Het
Tmem167b	C	T	3: 108,467,537 (GRCm39)	G46R	probably benign	Het
Tmprss11g	T	C	5: 86,638,585 (GRCm39)	K301R	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trpm2	C	T	10: 77,765,122 (GRCm39)	V960M	possibly damaging	Het
Ube3a	G	A	7: 58,926,334 (GRCm39)	D371N	possibly damaging	Het
Vmn2r57	A	T	7: 41,078,225 (GRCm39)	F78I	probably benign	Het

Other mutations in Exosc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01366:Exosc3	APN	4	45,317,747 (GRCm39)	missense	probably damaging	1.00
IGL01860:Exosc3	APN	4	45,319,659 (GRCm39)	missense	probably benign
IGL02368:Exosc3	APN	4	45,319,671 (GRCm39)	missense	probably damaging	1.00
IGL02370:Exosc3	APN	4	45,319,671 (GRCm39)	missense	probably damaging	1.00
R0557:Exosc3	UTSW	4	45,316,957 (GRCm39)	missense	probably damaging	1.00
R4161:Exosc3	UTSW	4	45,320,619 (GRCm39)	intron	probably benign
R4723:Exosc3	UTSW	4	45,319,642 (GRCm39)	missense	probably benign	0.01
R5010:Exosc3	UTSW	4	45,317,702 (GRCm39)	missense	possibly damaging	0.60
R6929:Exosc3	UTSW	4	45,320,482 (GRCm39)	missense	probably damaging	0.99
R9273:Exosc3	UTSW	4	45,316,969 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGCAATACTTCTGGAGCCGC -3'
(R):5'- TGTGCCACCAGACTTGTAAAGGATG -3'

Sequencing Primer
(F):5'- GACAATTCAAGTAGCCCTCTGGATAG -3'
(R):5'- CCAGACTTGTAAAGGATGCTGAG -3'

Posted On

2013-10-16