Mutagenetix > Incidental Mutations

Incidental Mutation 'R5306:Exosc10'

404549

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

042889-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R5306 (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 148562392 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 153 (V153A)

Ref Sequence

ENSEMBL: ENSMUSP00000075401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017408] [ENSMUST00000076022] [ENSMUST00000097781] [ENSMUST00000103221]

Predicted Effect

probably benign
Transcript: ENSMUST00000017408
AA Change: V153A

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000017408
Gene: ENSMUSG00000017264
AA Change: V153A

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: V153A

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000075401
Gene: ENSMUSG00000017264
AA Change: V153A

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: V153A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000095388
Gene: ENSMUSG00000017264
AA Change: V153A

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: ENSMUST00000103221

SMART Domains

Protein: ENSMUSP00000099510
Gene: ENSMUSG00000028991

Domain	Start	End	E-Value	Type
low complexity region	7	21	N/A	INTRINSIC
low complexity region	179	191	N/A	INTRINSIC
low complexity region	277	288	N/A	INTRINSIC
low complexity region	774	790	N/A	INTRINSIC
DUF3385	854	1024	1.51e-93	SMART
low complexity region	1279	1300	N/A	INTRINSIC
Pfam:FAT	1513	1908	2.3e-134	PFAM
Rapamycin_bind	2015	2114	7.94e-61	SMART
PI3Kc	2183	2484	8.84e-121	SMART
FATC	2517	2549	2.11e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173767

Meta Mutation Damage Score

0.1308

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	G	19: 29,729,830		probably benign	Het
Adam29	T	A	8: 55,871,757	D554V	probably damaging	Het
Ankrd44	G	A	1: 54,926,203		probably benign	Het
Api5	A	T	2: 94,423,466	C297*	probably null	Het
Asb14	G	A	14: 26,911,909	C357Y	probably damaging	Het
Brdt	T	A	5: 107,345,144	D112E	probably damaging	Het
Capsl	C	A	15: 9,457,790	Q32K	probably benign	Het
Ccdc106	A	G	7: 5,058,097	D81G	probably damaging	Het
Cep104	C	A	4: 154,006,242	T884K	probably benign	Het
Cmbl	T	C	15: 31,582,069	Y71H	probably damaging	Het
Crybg3	A	T	16: 59,559,993		probably benign	Het
Dynlt1c	T	C	17: 6,601,811	M1T	probably null	Het
Erbb2	T	C	11: 98,428,206	S574P	probably benign	Het
Faxc	G	T	4: 21,931,557		probably benign	Het
Fcgbp	A	G	7: 28,091,818	T835A	probably damaging	Het
Fmo5	G	T	3: 97,641,760	M241I	probably benign	Het
Gabra1	A	C	11: 42,133,552	I432S	probably benign	Het
Gfap	A	G	11: 102,895,748		probably null	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gm12185	T	A	11: 48,915,555	M270L	probably benign	Het
Gm14443	T	C	2: 175,169,579	N358S	possibly damaging	Het
Gm6583	T	C	5: 112,355,044	R265G	probably benign	Het
Gpr3	C	T	4: 133,211,179	V61M	probably damaging	Het
Herc2	C	T	7: 56,184,961	T3229M	probably damaging	Het
Ifit3	A	G	19: 34,587,807	Y251C	probably damaging	Het
Inf2	G	A	12: 112,601,553	V180I	probably benign	Het
Ints11	T	C	4: 155,875,208	Y91H	probably damaging	Het
Ints4	A	C	7: 97,509,678	D419A	probably damaging	Het
Kmt2e	T	C	5: 23,499,333	S1175P	probably damaging	Het
Mki67	A	T	7: 135,714,001	V44E	probably damaging	Het
Mrgprb13	A	T	7: 48,312,192		noncoding transcript	Het
Myh2	T	C	11: 67,186,556	L839P	probably damaging	Het
Nos1ap	T	A	1: 170,349,399	K145M	probably damaging	Het
Olfr723	A	G	14: 49,929,550		probably benign	Het
Olfr814	A	C	10: 129,873,941	I272R	probably damaging	Het
Pced1a	T	A	2: 130,419,171	H422L	probably benign	Het
Plpp1	G	T	13: 112,851,555		probably null	Het
Plxna4	T	C	6: 32,206,121	Y949C	probably damaging	Het
Polg2	G	A	11: 106,778,970	T158I	probably damaging	Het
Prss38	A	T	11: 59,372,995	I297K	probably benign	Het
Psph	A	G	5: 129,769,367	L98P	probably damaging	Het
Rab11b	G	A	17: 33,760,269		probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,579,929		probably benign	Het
Serpine3	G	A	14: 62,670,933	A137T	probably damaging	Het
Sh3bp4	T	C	1: 89,144,275	F282L	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slco2b1	T	A	7: 99,688,991	Y109F	possibly damaging	Het
Slfn10-ps	T	A	11: 83,035,529		noncoding transcript	Het
Smc5	A	G	19: 23,259,645		probably null	Het
Smyd4	A	G	11: 75,402,158	N638S	probably benign	Het
Stxbp5	T	C	10: 9,799,991	E628G	probably damaging	Het
Tmem236	A	T	2: 14,219,164	K255*	probably null	Het
Ttc29	T	A	8: 78,251,910		probably null	Het
Ttc37	G	A	13: 76,147,767	E1050K	possibly damaging	Het
Tyr	A	G	7: 87,438,014	I430T	probably damaging	Het
Uckl1	A	G	2: 181,574,367		probably null	Het
Vmn2r52	A	C	7: 10,170,745	I389R	possibly damaging	Het
Wdr62	A	T	7: 30,265,263	F352Y	possibly damaging	Het
Wdr70	T	C	15: 7,924,273	D379G	probably benign	Het
Zfp408	T	A	2: 91,646,345	M155L	probably benign	Het
Zfp459	T	A	13: 67,413,130	Q66H	probably damaging	Het
Zfp870	C	A	17: 32,883,653	G234V	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
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'- ACCACGTATTTCTGTGACTACG -3'
(R):5'- CTCAGGACCACACATTTGGAATG -3'

Sequencing Primer
(F):5'- ACTACGTTTCTTGAGGATGTCAG -3'
(R):5'- GGGTTCAAGTGCCACATGG -3'

Posted On

2016-07-22