Mutagenetix > Incidental Mutation

Incidental Mutation 'R7698:Exosc10'

593770

Institutional Source

Beutler Lab

Gene Symbol

Exosc10

Ensembl Gene

ENSMUSG00000017264

Gene Name

exosome component 10

Synonyms

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

MMRRC Submission

045759-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.972) question?

Stock #

R7698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

148642886-148666858 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 148642955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 11 (S11T)

Ref Sequence

ENSEMBL: ENSMUSP00000017408 (fasta)

Gene Model

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

AlphaFold

P56960

Predicted Effect

probably benign
Transcript: ENSMUST00000017408
AA Change: S11T

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

SMART Domains

Protein: ENSMUSP00000017408
Gene: ENSMUSG00000017264
AA Change: S11T

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: S11T

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

SMART Domains

Protein: ENSMUSP00000075401
Gene: ENSMUSG00000017264
AA Change: S11T

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: S11T

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

SMART Domains

Protein: ENSMUSP00000095388
Gene: ENSMUSG00000017264
AA Change: S11T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630023A22Rik	C	A	14: 33,774,570 (GRCm39)	L140F	unknown	Het
Actn1	T	C	12: 80,221,311 (GRCm39)	T581A	probably benign	Het
Ak9	T	C	10: 41,224,072 (GRCm39)	L495S		Het
Aldh5a1	T	C	13: 25,095,731 (GRCm39)	D462G	probably damaging	Het
Amz2	A	G	11: 109,319,833 (GRCm39)	D73G	probably damaging	Het
Ank2	A	G	3: 126,825,860 (GRCm39)	Y361H	probably benign	Het
Atp8b1	A	G	18: 64,704,093 (GRCm39)	Y342H	probably benign	Het
Atp8b5	C	T	4: 43,366,735 (GRCm39)	T833I	probably benign	Het
Camkk2	A	G	5: 122,884,482 (GRCm39)	I313T	probably damaging	Het
Cdk18	T	C	1: 132,050,116 (GRCm39)	T20A	probably damaging	Het
Cenpf	A	T	1: 189,394,269 (GRCm39)	C479S	probably benign	Het
Cfap221	C	A	1: 119,889,659 (GRCm39)	E192*	probably null	Het
Cfap44	C	T	16: 44,254,149 (GRCm39)	H958Y	probably damaging	Het
Cic	A	T	7: 24,972,597 (GRCm39)	Q776L	possibly damaging	Het
Cldn17	C	A	16: 88,303,244 (GRCm39)	G162*	probably null	Het
Col19a1	T	A	1: 24,351,159 (GRCm39)	Y748F	probably benign	Het
Col27a1	C	T	4: 63,143,955 (GRCm39)	P548S	possibly damaging	Het
Cracdl	T	G	1: 37,664,452 (GRCm39)	E482A	probably benign	Het
Ctsr	T	A	13: 61,310,381 (GRCm39)	M92L	probably benign	Het
Cyp2d12	T	C	15: 82,443,171 (GRCm39)	V360A	probably benign	Het
Defa34	G	T	8: 22,156,645 (GRCm39)	C91F	probably damaging	Het
Dennd2c	G	A	3: 103,072,359 (GRCm39)	V815I	possibly damaging	Het
Dlgap4	C	T	2: 156,591,015 (GRCm39)	Q734*	probably null	Het
Dph1	A	T	11: 75,081,267 (GRCm39)	S7T	probably benign	Het
Dpp8	T	C	9: 64,949,618 (GRCm39)	V121A	probably benign	Het
Dst	G	A	1: 34,229,468 (GRCm39)	G2354S	probably benign	Het
Duox2	A	T	2: 122,111,245 (GRCm39)	L1453Q	probably damaging	Het
Ecpas	C	G	4: 58,832,660 (GRCm39)	C900S	unknown	Het
Fetub	A	G	16: 22,758,059 (GRCm39)	T281A	probably benign	Het
Flii	A	T	11: 60,610,918 (GRCm39)	W504R	probably damaging	Het
Gm5093	T	C	17: 46,750,866 (GRCm39)	R54G	possibly damaging	Het
Gmcl1	T	C	6: 86,684,397 (GRCm39)	D375G	probably benign	Het
Hikeshi	A	T	7: 89,572,889 (GRCm39)	N101K	probably benign	Het
Hmcn2	T	C	2: 31,313,165 (GRCm39)	V3458A	probably damaging	Het
Hspa2	A	G	12: 76,452,083 (GRCm39)	N259S	possibly damaging	Het
Irf6	T	C	1: 192,844,075 (GRCm39)	I110T	probably damaging	Het
Kcnj8	T	A	6: 142,511,479 (GRCm39)	H376L	probably damaging	Het
Kdm6b	G	A	11: 69,296,807 (GRCm39)	P487S	probably benign	Het
Lcp1	C	A	14: 75,443,651 (GRCm39)	Y222*	probably null	Het
Manea	T	C	4: 26,327,763 (GRCm39)	D426G	probably damaging	Het
Map3k20	G	T	2: 72,195,025 (GRCm39)	E101*	probably null	Het
Map3k20	C	G	2: 72,268,658 (GRCm39)	S555C	probably benign	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Myo6	C	T	9: 80,124,938 (GRCm39)	P6S	unknown	Het
Myoc	A	T	1: 162,467,014 (GRCm39)	Q61L	probably damaging	Het
N4bp2	T	A	5: 65,965,500 (GRCm39)	M1183K	probably benign	Het
Or52e7	T	A	7: 104,685,114 (GRCm39)	H236Q	probably benign	Het
Or5b114-ps1	T	C	19: 13,352,404 (GRCm39)	F26S	probably damaging	Het
Or5b21	T	C	19: 12,840,077 (GRCm39)	S313P	possibly damaging	Het
Or8b40	T	A	9: 38,027,188 (GRCm39)	L37*	probably null	Het
Osbpl11	C	G	16: 33,054,817 (GRCm39)	N633K	probably benign	Het
Pate7	T	C	9: 35,688,472 (GRCm39)	M38V	probably benign	Het
Pcdhgb5	A	G	18: 37,865,684 (GRCm39)	E493G	probably damaging	Het
Phf20	T	A	2: 156,136,058 (GRCm39)	W626R	probably damaging	Het
Pkp2	C	A	16: 16,058,523 (GRCm39)	Q402K	probably benign	Het
Plch2	C	T	4: 155,087,244 (GRCm39)	D336N	possibly damaging	Het
Plk1	T	C	7: 121,768,481 (GRCm39)	F535L	probably damaging	Het
Ppp1r9a	A	T	6: 4,906,430 (GRCm39)	E328D	probably benign	Het
Prss44	G	A	9: 110,646,379 (GRCm39)	V369M	probably benign	Het
Rilp	A	G	11: 75,401,798 (GRCm39)	S193G	probably benign	Het
Rusc2	C	T	4: 43,414,900 (GRCm39)	Q69*	probably null	Het
Ryr2	T	C	13: 11,776,201 (GRCm39)	D1112G	possibly damaging	Het
Smc6	A	G	12: 11,333,141 (GRCm39)	R238G	possibly damaging	Het
Spen	A	G	4: 141,200,156 (GRCm39)	S2824P	probably damaging	Het
Stk4	T	C	2: 163,925,663 (GRCm39)	M77T	probably damaging	Het
Syne2	A	T	12: 75,995,838 (GRCm39)	H2126L	probably damaging	Het
Thsd1	C	T	8: 22,749,003 (GRCm39)	R625*	probably null	Het
Tle3	A	T	9: 61,320,138 (GRCm39)	N522I	probably damaging	Het
Tmcc1	C	A	6: 116,020,763 (GRCm39)	E230*	probably null	Het
Vmn2r90	T	C	17: 17,953,596 (GRCm39)	S587P	probably benign	Het
Wt1	A	T	2: 104,957,161 (GRCm39)	Q7L	probably benign	Het
Zfhx2	T	C	14: 55,300,306 (GRCm39)	I2482V	probably benign	Het
Zfpm2	A	T	15: 40,959,487 (GRCm39)	I189F	probably benign	Het

Other mutations in Exosc10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01400:Exosc10	APN	4	148,649,728 (GRCm39)	missense	probably damaging	1.00
IGL01591:Exosc10	APN	4	148,647,344 (GRCm39)	unclassified	probably benign
IGL01990:Exosc10	APN	4	148,650,867 (GRCm39)	missense	possibly damaging	0.83
IGL02137:Exosc10	APN	4	148,645,590 (GRCm39)	missense	probably damaging	0.97
IGL02186:Exosc10	APN	4	148,649,755 (GRCm39)	missense	probably damaging	0.96
IGL02412:Exosc10	APN	4	148,652,849 (GRCm39)	missense	probably benign	0.15
IGL02880:Exosc10	APN	4	148,660,640 (GRCm39)	missense	probably damaging	1.00
R0172:Exosc10	UTSW	4	148,649,814 (GRCm39)	missense	probably benign	0.02
R0267:Exosc10	UTSW	4	148,647,213 (GRCm39)	missense	probably damaging	1.00
R0592:Exosc10	UTSW	4	148,665,570 (GRCm39)	missense	probably benign
R1122:Exosc10	UTSW	4	148,650,821 (GRCm39)	missense	possibly damaging	0.86
R1218:Exosc10	UTSW	4	148,654,858 (GRCm39)	missense	probably damaging	1.00
R1498:Exosc10	UTSW	4	148,666,243 (GRCm39)	missense	possibly damaging	0.66
R1591:Exosc10	UTSW	4	148,652,840 (GRCm39)	missense	probably benign	0.04
R1719:Exosc10	UTSW	4	148,652,960 (GRCm39)	missense	probably damaging	1.00
R1760:Exosc10	UTSW	4	148,662,926 (GRCm39)	nonsense	probably null
R3727:Exosc10	UTSW	4	148,649,734 (GRCm39)	missense	probably damaging	1.00
R3842:Exosc10	UTSW	4	148,648,322 (GRCm39)	nonsense	probably null
R3876:Exosc10	UTSW	4	148,657,376 (GRCm39)	missense	probably benign	0.00
R4476:Exosc10	UTSW	4	148,649,781 (GRCm39)	missense	probably damaging	0.98
R4750:Exosc10	UTSW	4	148,646,851 (GRCm39)	missense	possibly damaging	0.69
R5306:Exosc10	UTSW	4	148,646,849 (GRCm39)	missense	probably benign	0.13
R5438:Exosc10	UTSW	4	148,650,799 (GRCm39)	nonsense	probably null
R5835:Exosc10	UTSW	4	148,649,844 (GRCm39)	missense	probably damaging	1.00
R5925:Exosc10	UTSW	4	148,657,819 (GRCm39)	missense	probably benign	0.01
R6116:Exosc10	UTSW	4	148,657,810 (GRCm39)	missense	probably benign	0.08
R6217:Exosc10	UTSW	4	148,666,768 (GRCm39)	splice site	probably null
R6365:Exosc10	UTSW	4	148,645,562 (GRCm39)	missense	probably benign	0.13
R6495:Exosc10	UTSW	4	148,647,329 (GRCm39)	missense	probably benign	0.45
R6498:Exosc10	UTSW	4	148,657,795 (GRCm39)	missense	probably benign
R6772:Exosc10	UTSW	4	148,665,591 (GRCm39)	missense	probably damaging	1.00
R7297:Exosc10	UTSW	4	148,664,834 (GRCm39)	missense	probably damaging	1.00
R7523:Exosc10	UTSW	4	148,648,299 (GRCm39)	critical splice acceptor site	probably null
R7967:Exosc10	UTSW	4	148,649,121 (GRCm39)	missense	probably damaging	1.00
R8225:Exosc10	UTSW	4	148,649,661 (GRCm39)	missense	possibly damaging	0.86
R8477:Exosc10	UTSW	4	148,649,847 (GRCm39)	missense	possibly damaging	0.71
R8510:Exosc10	UTSW	4	148,648,646 (GRCm39)	missense	probably damaging	1.00
R8825:Exosc10	UTSW	4	148,653,159 (GRCm39)	critical splice donor site	probably null
R8826:Exosc10	UTSW	4	148,653,159 (GRCm39)	critical splice donor site	probably null
R9080:Exosc10	UTSW	4	148,649,121 (GRCm39)	missense	probably damaging	1.00
R9104:Exosc10	UTSW	4	148,664,859 (GRCm39)	missense	probably benign	0.03
R9159:Exosc10	UTSW	4	148,663,916 (GRCm39)	critical splice donor site	probably null
R9188:Exosc10	UTSW	4	148,643,017 (GRCm39)	missense	probably damaging	0.96
R9337:Exosc10	UTSW	4	148,665,588 (GRCm39)	missense	probably damaging	1.00
R9696:Exosc10	UTSW	4	148,649,704 (GRCm39)	missense	probably damaging	1.00
Z1177:Exosc10	UTSW	4	148,649,843 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCCATCGTTAAGGCAAGAC -3'
(R):5'- ATTGGGGTAACGGACGTCAG -3'

Sequencing Primer
(F):5'- CCCACAAAGCTACGCTACTTGG -3'
(R):5'- TAGTGACAAGGACGCCCC -3'

Posted On

2019-11-12