Mutagenetix > Incidental Mutations

Incidental Mutation 'R0267:Exosc10'

34985

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

038493-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R0267 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

148558429-148582401 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148562756 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 174 (L174P)

Ref Sequence

ENSEMBL: ENSMUSP00000095388 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000017408
AA Change: L174P

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

SMART Domains

Protein: ENSMUSP00000017408
Gene: ENSMUSG00000017264
AA Change: L174P

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 damaging
Transcript: ENSMUST00000076022
AA Change: L174P

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

SMART Domains

Protein: ENSMUSP00000075401
Gene: ENSMUSG00000017264
AA Change: L174P

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 damaging
Transcript: ENSMUST00000097781
AA Change: L174P

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

SMART Domains

Protein: ENSMUSP00000095388
Gene: ENSMUSG00000017264
AA Change: L174P

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

0.7490

Coding Region Coverage

1x: 98.6%
3x: 97.7%
10x: 96.2%
20x: 94.0%

Validation Efficiency

97% (64/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,105	F1721S	probably damaging	Het
Adgrb1	G	A	15: 74,529,389	R78H	probably damaging	Het
Adgrd1	G	A	5: 129,139,594	A342T	probably benign	Het
Adrb1	A	T	19: 56,723,491	K374*	probably null	Het
Aldh18a1	C	A	19: 40,573,789	V264F	probably benign	Het
Aldh1l2	C	T	10: 83,522,687		probably benign	Het
Alox15	T	A	11: 70,346,153	H393L	probably damaging	Het
Aox2	A	G	1: 58,339,446		probably benign	Het
Appbp2	T	C	11: 85,201,462	Y297C	probably damaging	Het
Atxn2l	T	G	7: 126,493,207	Q950P	probably damaging	Het
Bicd1	A	T	6: 149,517,042	D737V	probably damaging	Het
C9	T	C	15: 6,467,458	I212T	probably benign	Het
Ccdc63	A	T	5: 122,117,044		probably benign	Het
Chst1	C	A	2: 92,613,606	P141Q	probably damaging	Het
Cped1	T	A	6: 22,119,476	F311L	probably damaging	Het
D6Wsu163e	T	A	6: 126,946,491	H113Q	probably benign	Het
Dcn	A	T	10: 97,506,483		probably benign	Het
Dmbx1	C	T	4: 115,918,112	A324T	probably benign	Het
Dock10	G	T	1: 80,512,454	Q1618K	probably damaging	Het
Dpyd	A	G	3: 118,917,272	E443G	probably benign	Het
Espl1	T	C	15: 102,313,017	V953A	possibly damaging	Het
Foxg1	A	G	12: 49,385,582	Y366C	probably damaging	Het
Fxyd3	T	C	7: 31,070,734		probably benign	Het
Gbp2	T	C	3: 142,630,106	V189A	probably benign	Het
Gins4	T	C	8: 23,229,410		probably benign	Het
Gm12789	A	G	4: 101,988,122	T3A	probably benign	Het
Gnb1l	T	C	16: 18,548,089		probably benign	Het
Gtpbp3	T	C	8: 71,491,497	L295S	probably damaging	Het
Hrh4	C	A	18: 13,022,398	Y331*	probably null	Het
Hsd11b1	A	T	1: 193,241,397	Y52N	probably damaging	Het
Jam3	A	G	9: 27,106,405	I29T	probably benign	Het
Kctd16	T	A	18: 40,530,877	I353N	probably benign	Het
Lama4	G	T	10: 39,028,639	G246C	probably damaging	Het
Lhx3	T	A	2: 26,203,028	M137L	probably benign	Het
Morc2a	T	C	11: 3,678,567	I340T	probably benign	Het
Myo7a	A	C	7: 98,054,624	I1969S	probably benign	Het
Olfr1471	T	A	19: 13,445,428	C139S	probably damaging	Het
Olfr304	T	C	7: 86,386,267	E131G	possibly damaging	Het
Olfr429	A	G	1: 174,089,166	N42S	probably damaging	Het
Pclo	T	C	5: 14,681,180	L3232P	unknown	Het
Polr1a	T	G	6: 71,974,139	I1407M	probably damaging	Het
Ppip5k2	A	G	1: 97,728,997	V817A	probably damaging	Het
Rbfox3	T	C	11: 118,495,240	T280A	probably benign	Het
Rfx3	T	C	19: 27,793,788	D521G	probably benign	Het
Scn5a	C	T	9: 119,543,135	V223I	probably damaging	Het
Sgsm3	T	G	15: 81,006,602	M119R	probably damaging	Het
Slc6a7	T	A	18: 60,996,711	M608L	probably benign	Het
Slit2	A	G	5: 48,182,331		probably benign	Het
Steap2	T	A	5: 5,673,561	I440F	probably benign	Het
Syn2	T	G	6: 115,254,150		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tfb2m	G	A	1: 179,533,638	H262Y	probably benign	Het
Trmt1l	A	G	1: 151,457,675		probably benign	Het
Trpm6	C	A	19: 18,823,378	P819T	probably benign	Het
Ttn	G	A	2: 76,743,689	A25620V	probably damaging	Het
Ubn2	T	C	6: 38,482,618		probably null	Het
Vars	T	C	17: 35,011,596		probably benign	Het
Vip	A	T	10: 5,644,004	D119V	possibly damaging	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Vps33b	T	C	7: 80,286,054	I405T	possibly damaging	Het
Zbtb21	T	A	16: 97,952,100	S356C	probably damaging	Het
Zdhhc6	A	T	19: 55,308,930	S237T	probably benign	Het
Zfp142	G	A	1: 74,576,064	A427V	probably benign	Het
Zfp692	T	A	11: 58,314,314	V463E	possibly damaging	Het
Zmynd8	A	T	2: 165,828,402	I384N	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
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	synonymous	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

Predicted Primers

PCR Primer
(F):5'- TGAACAAGCATCAGCAGCCTGTC -3'
(R):5'- AGCGAGGTTGAACTCTCAAGCAC -3'

Sequencing Primer
(F):5'- TTGCTGCAAGTAGCTGACC -3'
(R):5'- GTTGAACTCTCAAGCACTTCAAAGG -3'

Posted On

2013-05-09