Mutagenetix > Incidental Mutation

Incidental Mutation 'R5010:Exosc8'

390418

Institutional Source

Beutler Lab

Gene Symbol

Exosc8

Ensembl Gene

ENSMUSG00000027752

Gene Name

exosome component 8

Synonyms

2310032N20Rik

MMRRC Submission

042601-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5010 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54636099-54642469 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54636644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 229 (D229G)

Ref Sequence

ENSEMBL: ENSMUSP00000029316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029315] [ENSMUST00000029316] [ENSMUST00000153224] [ENSMUST00000154787] [ENSMUST00000199674] [ENSMUST00000197502] [ENSMUST00000200439] [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: D229G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000029316
Gene: ENSMUSG00000027752
AA Change: D229G

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

noncoding transcript
Transcript: ENSMUST00000125632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142377

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198780

Predicted Effect

probably benign
Transcript: ENSMUST00000153224

SMART Domains

Protein: ENSMUSP00000118780
Gene: ENSMUSG00000027752

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

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: 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: 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: 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

98% (65/66)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	C	T	11: 58,313,630 (GRCm39)	A86V	possibly damaging	Het
9430097D07Rik	A	G	2: 32,464,440 (GRCm39)		probably benign	Het
Actr5	T	A	2: 158,477,283 (GRCm39)	D411E	probably benign	Het
Ang5	A	G	14: 44,200,302 (GRCm39)	D122G	probably benign	Het
Atg9a	A	T	1: 75,162,704 (GRCm39)		probably null	Het
Cracd	G	C	5: 76,805,681 (GRCm39)		probably benign	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Ddx11	G	A	17: 66,454,717 (GRCm39)	V642M	possibly damaging	Het
Dis3l2	G	A	1: 86,688,043 (GRCm39)	V100I	probably benign	Het
Echdc2	T	C	4: 108,029,328 (GRCm39)	V111A	probably benign	Het
Egr1	A	G	18: 34,996,711 (GRCm39)	T498A	probably benign	Het
Exosc3	T	C	4: 45,317,702 (GRCm39)	K200R	possibly damaging	Het
Ext1	T	A	15: 52,955,808 (GRCm39)	I430F	probably damaging	Het
Fbxw22	T	C	9: 109,232,492 (GRCm39)	N31S	probably benign	Het
Gja8	T	C	3: 96,827,165 (GRCm39)	T166A	probably benign	Het
Gm21814	T	A	6: 149,485,116 (GRCm39)		noncoding transcript	Het
Gm21915	T	A	9: 40,581,944 (GRCm39)	H12Q	probably benign	Het
Hgsnat	G	A	8: 26,437,988 (GRCm39)	R527*	probably null	Het
Iqgap2	A	G	13: 95,810,251 (GRCm39)	F731S	probably benign	Het
Jchain	T	C	5: 88,670,364 (GRCm39)	H85R	probably damaging	Het
Kcnb2	T	C	1: 15,383,186 (GRCm39)	C171R	probably benign	Het
Kcnk3	C	A	5: 30,780,149 (GRCm39)	R400S	possibly damaging	Het
Klhl28	C	T	12: 65,004,001 (GRCm39)	E171K	probably damaging	Het
Lrrfip2	T	C	9: 111,053,040 (GRCm39)	I375T	possibly damaging	Het
Mccc1	T	C	3: 36,033,166 (GRCm39)	N326S	probably benign	Het
Med13l	T	C	5: 118,731,615 (GRCm39)	V97A	possibly damaging	Het
Mertk	C	A	2: 128,625,920 (GRCm39)	T685K	probably benign	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Myom2	G	A	8: 15,133,310 (GRCm39)	V401M	probably damaging	Het
Nme5	A	C	18: 34,711,738 (GRCm39)	M1R	probably null	Het
Nop2	T	C	6: 125,110,726 (GRCm39)	S68P	probably benign	Het
Notch1	A	T	2: 26,366,126 (GRCm39)	D809E	possibly damaging	Het
Or14c39	T	C	7: 86,343,793 (GRCm39)	I43T	possibly damaging	Het
Ppat	C	T	5: 77,076,525 (GRCm39)		probably benign	Het
Prss23	T	A	7: 89,159,422 (GRCm39)	M216L	probably benign	Het
Psg18	A	T	7: 18,083,279 (GRCm39)	V171D	probably damaging	Het
Psg28	A	G	7: 18,161,816 (GRCm39)	V229A	probably damaging	Het
Qser1	T	C	2: 104,618,176 (GRCm39)	N879D	possibly damaging	Het
Rpap1	T	C	2: 119,600,522 (GRCm39)	N879S	probably benign	Het
Rusc2	T	C	4: 43,415,926 (GRCm39)	S411P	probably damaging	Het
Rxfp2	T	A	5: 149,990,825 (GRCm39)	W519R	probably damaging	Het
Scpep1	T	A	11: 88,832,175 (GRCm39)	Q185L	probably benign	Het
Serpinb11	A	G	1: 107,307,379 (GRCm39)	N270S	probably benign	Het
Serpinb6d	T	A	13: 33,855,427 (GRCm39)	M367K	probably benign	Het
Skint10	T	G	4: 112,584,869 (GRCm39)	I213L	probably benign	Het
Skint5	T	C	4: 113,403,734 (GRCm39)	T1163A	unknown	Het
Slamf9	A	T	1: 172,303,780 (GRCm39)	I42L	possibly damaging	Het
Slc1a3	T	C	15: 8,680,330 (GRCm39)		probably benign	Het
Smad6	T	A	9: 63,861,182 (GRCm39)	Q371L	possibly damaging	Het
Snx31	A	T	15: 36,555,469 (GRCm39)	V26E	probably damaging	Het
Spata31e5	A	G	1: 28,816,943 (GRCm39)	I363T	possibly damaging	Het
Taf4b	A	G	18: 14,955,229 (GRCm39)	N594S	possibly damaging	Het
Tanc2	T	C	11: 105,670,918 (GRCm39)	S172P	probably damaging	Het
Tas2r110	T	A	6: 132,845,438 (GRCm39)	Y156*	probably null	Het
Tbc1d20	G	A	2: 152,135,856 (GRCm39)		probably benign	Het
Timm50	A	T	7: 28,006,284 (GRCm39)	D272E	probably benign	Het
Ttn	T	G	2: 76,730,855 (GRCm39)		probably benign	Het
Vps13c	T	A	9: 67,823,661 (GRCm39)	F1362I	probably benign	Het
Vwf	T	C	6: 125,543,220 (GRCm39)	S154P	probably benign	Het
Zfp445	T	C	9: 122,681,410 (GRCm39)	R844G	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
R1233:Exosc8	UTSW	3	54,639,419 (GRCm39)	missense	probably benign	0.30
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
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'- TTGTAGTCTCAAGATGTGCAGG -3'
(R):5'- ATGAGCTCTTCCAGACCCAG -3'

Sequencing Primer
(F):5'- GCAGGTTAGTTTTATTAGGAAGACC -3'
(R):5'- TCTTCCAGACCCAGGCTGAAG -3'

Posted On

2016-06-06