Mutagenetix > Incidental Mutations

Incidental Mutation 'R0592:Exosc10'

56018

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

038782-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R0592 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

148558429-148582401 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148581113 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 811 (S811P)

Ref Sequence

ENSEMBL: ENSMUSP00000075401 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000017408
AA Change: S836P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000017408
Gene: ENSMUSG00000017264
AA Change: S836P

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: S811P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075401
Gene: ENSMUSG00000017264
AA Change: S811P

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

SMART Domains

Protein: ENSMUSP00000095388
Gene: ENSMUSG00000017264

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

noncoding transcript
Transcript: ENSMUST00000126897

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173892

Meta Mutation Damage Score

0.0607

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

Validation Efficiency

100% (35/35)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2a	GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	19: 6,245,007		probably benign	Het
Bbs7	A	T	3: 36,610,297	V53D	probably benign	Het
Bglap	T	A	3: 88,383,655	I90F	probably benign	Het
C2cd4b	G	A	9: 67,760,691	R323H	probably damaging	Het
Cdh5	T	A	8: 104,130,902		probably null	Het
Cdh8	T	A	8: 99,279,478	D159V	probably damaging	Het
Dnah7a	A	G	1: 53,456,612	Y3229H	possibly damaging	Het
Dzip1	T	C	14: 118,902,139	E381G	probably damaging	Het
Elmod1	A	G	9: 53,926,106		probably benign	Het
Fhl3	A	G	4: 124,705,677	Y15C	probably benign	Het
Gstz1	G	A	12: 87,163,721	S126N	probably benign	Het
Hey2	C	A	10: 30,833,957	A267S	probably benign	Het
Iqce	A	T	5: 140,686,107		probably null	Het
Katnal2	A	T	18: 77,002,560		probably null	Het
Kdm2b	G	A	5: 122,961,134		probably benign	Het
Mov10l1	A	G	15: 88,998,766		probably null	Het
Numa1	A	G	7: 102,013,897	T724A	probably benign	Het
Oas3	A	G	5: 120,771,149	F244S	probably damaging	Het
Olfr1472	T	C	19: 13,453,705	I271V	probably benign	Het
Olfr715	G	A	7: 107,129,343	L17F	probably benign	Het
Ppil2	A	G	16: 17,107,219	S30P	probably benign	Het
Rab37	T	G	11: 115,160,523		probably benign	Het
Riox2	T	C	16: 59,489,579		probably benign	Het
Ryr3	A	G	2: 112,678,481	S3358P	probably damaging	Het
Sash1	T	A	10: 8,729,782	H948L	probably benign	Het
Serpinb6e	T	A	13: 33,841,074	N78I	probably damaging	Het
Slc25a47	G	A	12: 108,854,258	V63M	probably damaging	Het
Slc9b1	A	T	3: 135,394,074		probably benign	Het
Strip2	T	A	6: 29,931,210	S387T	probably benign	Het
Tcaf3	T	C	6: 42,596,843	N145S	probably benign	Het
Tex10	C	T	4: 48,456,800	R637Q	probably benign	Het
Trmu	T	C	15: 85,896,826		probably benign	Het
Vezf1	A	T	11: 88,068,435		probably benign	Het
Vmn2r116	C	T	17: 23,386,915	T267I	probably damaging	Het
Whrn	C	A	4: 63,415,567	A450S	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
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
R6495:Exosc10	UTSW	4	148562872	missense	probably benign	0.45
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'- TGGATGTCAGCTCACTTTGTCACC -3'
(R):5'- GGCCAGAAAGCCCATACTGTTCTC -3'

Sequencing Primer
(F):5'- TTGTCACCAGTGCCATGAG -3'
(R):5'- TCGCACTCTCACACATTAGTAAATTC -3'

Posted On

2013-07-11