Mutagenetix > Incidental Mutations

Incidental Mutation 'R6495:Exosc10'

520404

Institutional Source

Beutler Lab

Gene Symbol

Exosc10

Ensembl Gene

ENSMUSG00000017264

Gene Name

exosome component 10

Synonyms

Pmscl2, PM-Scl, p3, p2, PM/Scl-100, RRP6, p4

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R6495 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148558429-148582401 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 148562872 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 213 (P213S)

Ref Sequence

ENSEMBL: ENSMUSP00000017408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017408] [ENSMUST00000076022] [ENSMUST00000097781]

Predicted Effect

probably benign
Transcript: ENSMUST00000017408
AA Change: P213S

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000017408
Gene: ENSMUSG00000017264
AA Change: P213S

Domain	Start	End	E-Value	Type
Pfam:PMC2NT	44	133	2.7e-26	PFAM
low complexity region	219	230	N/A	INTRINSIC
35EXOc	288	456	7.84e-53	SMART
HRDC	503	583	8.24e-25	SMART
low complexity region	745	760	N/A	INTRINSIC
coiled coil region	769	800	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000076022
AA Change: P213S

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000075401
Gene: ENSMUSG00000017264
AA Change: P213S

Domain	Start	End	E-Value	Type
Pfam:PMC2NT	43	134	5.1e-30	PFAM
low complexity region	219	230	N/A	INTRINSIC
35EXOc	288	456	7.84e-53	SMART
HRDC	503	583	8.24e-25	SMART
low complexity region	720	735	N/A	INTRINSIC
coiled coil region	744	775	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097781
AA Change: P213S

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000095388
Gene: ENSMUSG00000017264
AA Change: P213S

Domain	Start	End	E-Value	Type
Pfam:PMC2NT	43	134	1.4e-30	PFAM
low complexity region	219	230	N/A	INTRINSIC
35EXOc	288	456	7.84e-53	SMART
HRDC	503	583	8.24e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173767

Meta Mutation Damage Score

0.0826

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (50/50)

MGI Phenotype

PHENOTYPE: Mice homozygous for a conditional allele appear phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	T	A	12: 112,773,714	E502V	probably damaging	Het
Apbb1ip	T	A	2: 22,853,120	Y321*	probably null	Het
Apob	A	G	12: 7,990,394	K577R	probably null	Het
Arfgef3	A	G	10: 18,611,202		probably null	Het
Asap3	T	A	4: 136,228,479		probably null	Het
Atp13a5	C	T	16: 29,321,622		probably null	Het
Bcan	C	A	3: 87,996,597	A194S	possibly damaging	Het
Cacybp	T	C	1: 160,208,523	T32A	probably benign	Het
Cd82	A	G	2: 93,430,012	V90A	probably benign	Het
Chd5	C	T	4: 152,367,372	R714C	probably damaging	Het
Cpb2	T	C	14: 75,275,079	Y311H	probably damaging	Het
Cyp39a1	T	C	17: 43,691,694	Y267H	probably benign	Het
Dnajc6	C	T	4: 101,635,065	Q766*	probably null	Het
Dusp3	T	C	11: 101,981,827	I48V	probably benign	Het
Eif3c	A	T	7: 126,547,500	F809I	probably damaging	Het
Galns	C	T	8: 122,600,610	G141D	probably damaging	Het
Gm3233	A	T	10: 77,759,052		probably benign	Het
Hadha	A	T	5: 30,120,050	L714H	probably benign	Het
Map3k20	T	C	2: 72,368,419	M123T	probably damaging	Het
Nt5dc1	A	G	10: 34,324,369	L217P	probably damaging	Het
Nubp2	A	T	17: 24,885,603	D54E	probably damaging	Het
Olfr1471	T	A	19: 13,445,625	D204E	probably benign	Het
Onecut1	C	T	9: 74,863,215	R307C	probably damaging	Het
Pcdhb17	A	G	18: 37,485,667	Y170C	probably damaging	Het
Pkd2	T	A	5: 104,489,293	C591S	probably damaging	Het
Pramef20	T	C	4: 144,376,839	N239S	probably benign	Het
Pwp2	A	T	10: 78,177,127	V549E	probably damaging	Het
Rapsn	A	T	2: 91,036,628	S92C	probably damaging	Het
Rbm19	A	G	5: 120,119,680	S90G	probably damaging	Het
Rfc1	G	A	5: 65,273,815		probably null	Het
Rims2	T	A	15: 39,517,812	F1046L	probably benign	Het
S100a16	C	T	3: 90,542,428	R73C	probably benign	Het
Shroom3	T	C	5: 92,942,069	Y893H	possibly damaging	Het
Stt3b	T	A	9: 115,267,320	Y253F	possibly damaging	Het
Taar8b	A	G	10: 24,091,262	*345Q	probably null	Het
Tas2r119	G	A	15: 32,177,530	V81I	probably benign	Het
Tas2r129	A	G	6: 132,951,165	I22V	probably benign	Het
Tbc1d19	T	G	5: 53,889,213		probably null	Het
Tnip3	A	T	6: 65,605,862	I218F	probably benign	Het
Tnks	A	T	8: 34,839,966		probably null	Het
Ttc29	T	C	8: 78,282,334	Y278H	possibly damaging	Het
Uba7	T	A	9: 107,977,014	C214*	probably null	Het
Vmn2r115	A	T	17: 23,359,598	I682F	probably benign	Het
Vmn2r75	A	T	7: 86,164,079	M505K	probably benign	Het
Wdr19	A	T	5: 65,258,123	T1313S	probably benign	Het
Zbtb22	A	G	17: 33,917,250	D123G	probably damaging	Het
Zcchc6	T	C	13: 59,799,939	E454G	possibly damaging	Het
Zdhhc7	A	G	8: 120,086,656	I138T	probably benign	Het
Zfp706	T	C	15: 37,003,801	K7R	unknown	Het
Zkscan3	G	A	13: 21,387,905	P519L	probably damaging	Het

Other mutations in Exosc10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01400:Exosc10	APN	4	148565271	missense	probably damaging	1.00
IGL01591:Exosc10	APN	4	148562887	unclassified	probably benign
IGL01990:Exosc10	APN	4	148566410	missense	possibly damaging	0.83
IGL02137:Exosc10	APN	4	148561133	missense	probably damaging	0.97
IGL02186:Exosc10	APN	4	148565298	missense	probably damaging	0.96
IGL02412:Exosc10	APN	4	148568392	missense	probably benign	0.15
IGL02880:Exosc10	APN	4	148576183	missense	probably damaging	1.00
R0172:Exosc10	UTSW	4	148565357	missense	probably benign	0.02
R0267:Exosc10	UTSW	4	148562756	missense	probably damaging	1.00
R0592:Exosc10	UTSW	4	148581113	missense	probably benign
R1122:Exosc10	UTSW	4	148566364	missense	possibly damaging	0.86
R1218:Exosc10	UTSW	4	148570401	missense	probably damaging	1.00
R1498:Exosc10	UTSW	4	148581786	missense	possibly damaging	0.66
R1591:Exosc10	UTSW	4	148568383	missense	probably benign	0.04
R1719:Exosc10	UTSW	4	148568503	missense	probably damaging	1.00
R1760:Exosc10	UTSW	4	148578469	nonsense	probably null
R3727:Exosc10	UTSW	4	148565277	missense	probably damaging	1.00
R3842:Exosc10	UTSW	4	148563865	nonsense	probably null
R3876:Exosc10	UTSW	4	148572919	missense	probably benign	0.00
R4476:Exosc10	UTSW	4	148565324	missense	probably damaging	0.98
R4750:Exosc10	UTSW	4	148562394	missense	possibly damaging	0.69
R5306:Exosc10	UTSW	4	148562392	missense	probably benign	0.13
R5438:Exosc10	UTSW	4	148566342	nonsense	probably null
R5835:Exosc10	UTSW	4	148565387	missense	probably damaging	1.00
R5925:Exosc10	UTSW	4	148573362	missense	probably benign	0.01
R6116:Exosc10	UTSW	4	148573353	missense	probably benign	0.08
R6217:Exosc10	UTSW	4	148582311	splice site	probably null
R6365:Exosc10	UTSW	4	148561105	missense	probably benign	0.13
R6498:Exosc10	UTSW	4	148573338	missense	probably benign
R6772:Exosc10	UTSW	4	148581134	missense	probably damaging	1.00
R7297:Exosc10	UTSW	4	148580377	missense	probably damaging	1.00
R7523:Exosc10	UTSW	4	148563842	critical splice acceptor site	probably null
R7698:Exosc10	UTSW	4	148558498	missense	probably benign
R7967:Exosc10	UTSW	4	148564664	missense	probably damaging	1.00
R8225:Exosc10	UTSW	4	148565204	missense	possibly damaging	0.86
R8477:Exosc10	UTSW	4	148565390	missense	possibly damaging	0.71
R8510:Exosc10	UTSW	4	148564189	missense	probably damaging	1.00
Z1177:Exosc10	UTSW	4	148565386	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGTGTGTTGACTGCAGGC -3'
(R):5'- ATGAAATCTGCCAGGGCTG -3'

Sequencing Primer
(F):5'- CTGCAGGCAGGAGAGTATGGC -3'
(R):5'- ACATCCAGGTCCTCCGG -3'

Posted On

2018-06-06