Mutagenetix > Incidental Mutation

Incidental Mutation 'R1233:Exosc8'

152341

Institutional Source

Beutler Lab

Gene Symbol

Exosc8

Ensembl Gene

ENSMUSG00000027752

Gene Name

exosome component 8

Synonyms

2310032N20Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1233 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54636099-54642469 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54639419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 129 (C129S)

Ref Sequence

ENSEMBL: ENSMUSP00000118780 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029315] [ENSMUST00000029316] [ENSMUST00000044567] [ENSMUST00000153224] [ENSMUST00000155273] [ENSMUST00000200439] [ENSMUST00000197502] [ENSMUST00000141191] [ENSMUST00000154787] [ENSMUST00000199674] [ENSMUST00000200441]

AlphaFold

Q9D753

Predicted Effect

probably benign
Transcript: ENSMUST00000029315

SMART Domains

Protein: ENSMUSP00000029315
Gene: ENSMUSG00000027751

Domain	Start	End	E-Value	Type
low complexity region	65	78	N/A	INTRINSIC
low complexity region	107	159	N/A	INTRINSIC
coiled coil region	201	230	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000029316
AA Change: C125S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029316
Gene: ENSMUSG00000027752
AA Change: C125S

Domain	Start	End	E-Value	Type
Pfam:RNase_PH	31	166	2.3e-29	PFAM
Pfam:RNase_PH_C	191	258	8.9e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000044567

SMART Domains

Protein: ENSMUSP00000035879
Gene: ENSMUSG00000036632

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	63	174	2.1e-10	PFAM
Pfam:Glycos_transf_2	68	250	2.9e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135935

Predicted Effect

probably benign
Transcript: ENSMUST00000153224
AA Change: C129S

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118780
Gene: ENSMUSG00000027752
AA Change: C129S

Domain	Start	End	E-Value	Type
Pfam:RNase_PH	31	130	2e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198780

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142377

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150923

Predicted Effect

probably benign
Transcript: ENSMUST00000155273

SMART Domains

Protein: ENSMUSP00000119260
Gene: ENSMUSG00000036632

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200439

SMART Domains

Protein: ENSMUSP00000143059
Gene: ENSMUSG00000027751

Domain	Start	End	E-Value	Type
low complexity region	45	56	N/A	INTRINSIC
Pfam:Spt20	59	227	2.7e-42	PFAM
low complexity region	424	440	N/A	INTRINSIC
low complexity region	467	476	N/A	INTRINSIC
low complexity region	487	501	N/A	INTRINSIC
low complexity region	514	525	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197502

SMART Domains

Protein: ENSMUSP00000143750
Gene: ENSMUSG00000027751

Domain	Start	End	E-Value	Type
low complexity region	45	56	N/A	INTRINSIC
Pfam:Spt20	62	227	1.9e-43	PFAM
low complexity region	424	440	N/A	INTRINSIC
low complexity region	467	476	N/A	INTRINSIC
low complexity region	487	501	N/A	INTRINSIC
low complexity region	512	532	N/A	INTRINSIC
low complexity region	574	587	N/A	INTRINSIC
low complexity region	632	680	N/A	INTRINSIC
coiled coil region	722	751	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141191

SMART Domains

Protein: ENSMUSP00000118818
Gene: ENSMUSG00000036632

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154787

SMART Domains

Protein: ENSMUSP00000115876
Gene: ENSMUSG00000027752

Domain	Start	End	E-Value	Type
Pfam:RNase_PH	19	106	5.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199674

SMART Domains

Protein: ENSMUSP00000142948
Gene: ENSMUSG00000027751

Domain	Start	End	E-Value	Type
low complexity region	45	56	N/A	INTRINSIC
Pfam:Spt20	59	227	3.3e-39	PFAM
low complexity region	424	442	N/A	INTRINSIC
low complexity region	466	475	N/A	INTRINSIC
low complexity region	486	500	N/A	INTRINSIC
low complexity region	513	524	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200441

SMART Domains

Protein: ENSMUSP00000143231
Gene: ENSMUSG00000027751

Domain	Start	End	E-Value	Type
low complexity region	65	78	N/A	INTRINSIC
low complexity region	123	171	N/A	INTRINSIC
coiled coil region	213	242	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 95.9%
20x: 90.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 3'-5' exoribonuclease that specifically interacts with mRNAs containing AU-rich elements. The encoded protein is part of the exosome complex that is important for the degradation of numerous RNA species. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	A	G	5: 137,288,419 (GRCm39)		probably null	Het
Aopep	T	A	13: 63,347,334 (GRCm39)	M631K	probably damaging	Het
Arfgef1	T	C	1: 10,254,315 (GRCm39)	D773G	probably damaging	Het
Arhgap45	T	C	10: 79,863,416 (GRCm39)	I753T	probably damaging	Het
Cd274	T	A	19: 29,351,301 (GRCm39)		probably null	Het
Cdh16	C	T	8: 105,345,114 (GRCm39)	A392T	possibly damaging	Het
Csmd3	T	C	15: 48,536,927 (GRCm39)	T92A	probably damaging	Het
Fat3	T	G	9: 15,834,041 (GRCm39)	I4184L	probably benign	Het
Frem2	A	G	3: 53,455,199 (GRCm39)	Y2126H	probably damaging	Het
Fsbp	T	C	4: 11,580,053 (GRCm39)	M107T	possibly damaging	Het
Gper1	A	G	5: 139,412,357 (GRCm39)	Y234C	probably damaging	Het
Hmcn1	T	C	1: 150,624,777 (GRCm39)	S1043G	probably benign	Het
Kif2a	T	A	13: 107,123,840 (GRCm39)	K137N	probably damaging	Het
Mrc2	T	C	11: 105,239,241 (GRCm39)	F1332S	probably damaging	Het
Nme8	T	A	13: 19,844,682 (GRCm39)	M375L	possibly damaging	Het
Or1e32	T	A	11: 73,705,176 (GRCm39)	H244L	probably damaging	Het
Per1	T	C	11: 68,993,037 (GRCm39)	L298P	probably damaging	Het
Polr2b	A	G	5: 77,482,412 (GRCm39)	N650S	probably benign	Het
Ppara	T	C	15: 85,682,222 (GRCm39)	V306A	probably damaging	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Repin1	A	G	6: 48,574,768 (GRCm39)	T566A	possibly damaging	Het
Rhot2	T	A	17: 26,063,071 (GRCm39)	D57V	probably damaging	Het
Samd4b	C	T	7: 28,113,435 (GRCm39)	G177R	probably damaging	Het
Slc5a8	C	A	10: 88,754,304 (GRCm39)	P435H	probably damaging	Het
Stpg1	G	A	4: 135,252,740 (GRCm39)	A164T	probably benign	Het
Tll2	G	T	19: 41,084,423 (GRCm39)	A668D	possibly damaging	Het
Txnl1	T	A	18: 63,808,539 (GRCm39)	M180L	probably benign	Het
Vopp1	A	C	6: 57,766,980 (GRCm39)	L32R	probably damaging	Het
Wdr95	C	T	5: 149,505,323 (GRCm39)	T226I	possibly damaging	Het
Wdr95	C	A	5: 149,518,829 (GRCm39)	Q557K	probably benign	Het

Other mutations in Exosc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Exosc8	APN	3	54,636,686 (GRCm39)	missense	probably damaging	0.97
IGL03348:Exosc8	APN	3	54,640,143 (GRCm39)	missense	possibly damaging	0.91
R1037:Exosc8	UTSW	3	54,640,159 (GRCm39)	missense	probably damaging	0.98
R1623:Exosc8	UTSW	3	54,641,752 (GRCm39)	missense	probably damaging	0.99
R1647:Exosc8	UTSW	3	54,641,522 (GRCm39)	critical splice donor site	probably null
R1928:Exosc8	UTSW	3	54,636,266 (GRCm39)	missense	probably damaging	1.00
R3005:Exosc8	UTSW	3	54,639,568 (GRCm39)	splice site	probably null
R4851:Exosc8	UTSW	3	54,639,523 (GRCm39)	unclassified	probably benign
R4932:Exosc8	UTSW	3	54,636,711 (GRCm39)	missense	possibly damaging	0.81
R5010:Exosc8	UTSW	3	54,636,644 (GRCm39)	missense	probably benign	0.00
R5506:Exosc8	UTSW	3	54,638,600 (GRCm39)	unclassified	probably benign
R5860:Exosc8	UTSW	3	54,642,463 (GRCm39)	unclassified	probably benign
R6887:Exosc8	UTSW	3	54,641,120 (GRCm39)	missense	probably damaging	1.00
R7543:Exosc8	UTSW	3	54,636,669 (GRCm39)	missense	probably benign	0.28
R9130:Exosc8	UTSW	3	54,638,503 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTGCTACGTTAGCCAGTGAAAG -3'
(R):5'- GAGGCTCAAGTAACCAGCCAGTTC -3'

Sequencing Primer
(F):5'- gatacagaaggaggagggaaag -3'
(R):5'- CAGCCAGTTCATTGCAGATG -3'

Posted On

2014-01-29