Mutagenetix > Incidental Mutations

Incidental Mutation 'R4750:Exosc10'

357482

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

042031-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R4750 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

148558429-148582401 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 148562394 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 154 (S154T)

Ref Sequence

ENSEMBL: ENSMUSP00000017408 (fasta)

Gene Model

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

AlphaFold

P56960

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017408
AA Change: S154T

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000017408
Gene: ENSMUSG00000017264
AA Change: S154T

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

possibly damaging
Transcript: ENSMUST00000076022
AA Change: S154T

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000075401
Gene: ENSMUSG00000017264
AA Change: S154T

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: S154T

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000095388
Gene: ENSMUSG00000017264
AA Change: S154T

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

0.1891

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

97% (89/92)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008P14Rik	C	T	2: 32,379,413		probably null	Het
1700074P13Rik	A	G	6: 40,921,021	W243R	probably damaging	Het
2510039O18Rik	T	A	4: 147,941,488	L155Q	probably damaging	Het
Aadac	T	C	3: 60,035,817	F48L	probably benign	Het
Aadat	T	A	8: 60,526,600	N165K	probably benign	Het
Acan	C	A	7: 79,092,718	D557E	probably damaging	Het
Adamts4	T	A	1: 171,251,066	V85D	probably benign	Het
Agt	A	G	8: 124,556,937	V481A	probably benign	Het
Angpt1	T	C	15: 42,676,401	N21D	probably benign	Het
Ankrd52	A	C	10: 128,378,089	D38A	probably damaging	Het
Ap1g2	G	T	14: 55,104,365	Q247K	probably damaging	Het
Apaf1	T	C	10: 91,060,188	R341G	probably damaging	Het
Arf2	T	C	11: 103,979,759		probably null	Het
Arhgef1	A	G	7: 24,918,576		probably benign	Het
Bbox1	T	A	2: 110,265,521	Y366F	possibly damaging	Het
Bmp3	A	G	5: 98,872,558	E280G	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdh12	T	A	15: 21,583,808	V578D	possibly damaging	Het
Cdk19	T	C	10: 40,476,199	S282P	probably damaging	Het
Cfap46	A	G	7: 139,679,323		probably null	Het
Cfhr3	T	A	1: 139,584,828		noncoding transcript	Het
Ctrc	T	A	4: 141,841,523	Y123F	probably benign	Het
Enpp4	A	G	17: 44,102,355	M96T	probably damaging	Het
Fbxo21	G	A	5: 118,000,468	R486H	probably benign	Het
Foxj3	C	A	4: 119,616,590	A204E	probably damaging	Het
Gas6	T	G	8: 13,476,227	D237A	probably benign	Het
Gimap8	A	G	6: 48,650,427	S112G	probably benign	Het
Gm4787	T	C	12: 81,378,367	N339S	possibly damaging	Het
Gm6185	T	C	1: 161,182,363		noncoding transcript	Het
Gramd3	A	G	18: 56,432,300	E9G	probably benign	Het
Hmgxb3	A	T	18: 61,167,496	D169E	probably benign	Het
Isl2	T	A	9: 55,544,312	V162D	probably benign	Het
Kcns3	T	A	12: 11,091,654	D348V	probably damaging	Het
Kcp	G	A	6: 29,484,626	P1318S	probably benign	Het
Kif12	T	A	4: 63,167,783	Q415L	probably damaging	Het
Lama3	T	A	18: 12,504,359	H45Q	probably benign	Het
Lonp2	A	T	8: 86,631,502	K117M	probably benign	Het
Loxl4	T	A	19: 42,605,004	N243Y	probably damaging	Het
Lrif1	C	A	3: 106,735,564	Q662K	probably benign	Het
Lrrc37a	T	A	11: 103,455,480	I3187L	probably benign	Het
Lsg1	A	G	16: 30,565,449	I521T	probably damaging	Het
Mecom	T	G	3: 29,957,530	K865Q	probably damaging	Het
Myh10	T	C	11: 68,785,314	I790T	probably damaging	Het
Nek7	C	T	1: 138,498,673	S234N	probably damaging	Het
Nepro	T	C	16: 44,730,182	L179P	probably damaging	Het
Nexn	A	G	3: 152,237,722	C649R	probably damaging	Het
Nsmf	T	C	2: 25,055,026	S34P	probably damaging	Het
Olfr1140	C	T	2: 87,746,508	T104I	probably benign	Het
Olfr1339	T	A	4: 118,734,733	V68D	possibly damaging	Het
Olfr1350	A	G	7: 6,570,851	I287V	probably benign	Het
Olfr1364	A	G	13: 21,573,743	S238P	possibly damaging	Het
Olfr354	T	A	2: 36,907,716	S257T	probably benign	Het
Olfr406	T	A	11: 74,269,420	F10L	probably benign	Het
Olfr417	A	G	1: 174,368,922	I2V	probably benign	Het
Olfr685	A	T	7: 105,180,926	I144N	probably damaging	Het
Olfr702	A	G	7: 106,824,307	F73S	probably damaging	Het
P2rx5	G	T	11: 73,164,877	K53N	probably damaging	Het
Pcdhb20	C	A	18: 37,506,131	A570E	possibly damaging	Het
Pip4k2c	T	C	10: 127,211,417	H32R	unknown	Het
Pkhd1	T	A	1: 20,524,112	D1259V	possibly damaging	Het
Plekha7	A	T	7: 116,137,311	V889E	probably damaging	Het
Polr2b	A	C	5: 77,332,039	E546D	possibly damaging	Het
Ppm1l	A	G	3: 69,549,328	T193A	probably damaging	Het
Ppp1r37	G	T	7: 19,531,520	D710E	probably benign	Het
Prdm4	A	G	10: 85,899,221	F679L	probably damaging	Het
Prkcd	A	G	14: 30,610,301	M1T	probably null	Het
Rcor3	A	G	1: 192,130,449	Y77H	unknown	Het
Rdh5	T	C	10: 128,918,366	E66G	possibly damaging	Het
Slc12a5	A	G	2: 164,982,931	M396V	probably benign	Het
Slco5a1	T	G	1: 12,879,280	T629P	probably damaging	Het
Smarca5	A	C	8: 80,733,707	N133K	probably benign	Het
Spag5	T	C	11: 78,320,052	M927T	probably benign	Het
Spint4	A	T	2: 164,700,146	D39V	probably damaging	Het
Syt6	T	A	3: 103,630,917	*512R	probably null	Het
Tmem247	T	C	17: 86,922,342	C204R	probably damaging	Het
Tmem72	A	G	6: 116,695,434	Y149H	probably damaging	Het
Trpm6	T	C	19: 18,876,064	V1816A	probably damaging	Het
Usp35	A	G	7: 97,310,339	V1008A	possibly damaging	Het
Washc4	T	C	10: 83,591,052	S1075P	probably damaging	Het
Wdr34	T	C	2: 30,033,920	T198A	probably benign	Het
Xylb	G	T	9: 119,359,313	G62*	probably null	Het
Zfp142	T	C	1: 74,572,458	E623G	probably damaging	Het
Zfp239	A	G	6: 117,871,739	Y146C	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
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
R8825:Exosc10	UTSW	4	148568702	critical splice donor site	probably null
R8826:Exosc10	UTSW	4	148568702	critical splice donor site	probably null
R9080:Exosc10	UTSW	4	148564664	missense	probably damaging	1.00
R9104:Exosc10	UTSW	4	148580402	missense	probably benign	0.03
R9159:Exosc10	UTSW	4	148579459	critical splice donor site	probably null
R9188:Exosc10	UTSW	4	148558560	missense	probably damaging	0.96
R9337:Exosc10	UTSW	4	148581131	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'- TCTCAGGACCACACATTTGGAATG -3'

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

Posted On

2015-11-11