Mutagenetix > Incidental Mutation

Incidental Mutation 'R9104:Exosc10'

691874

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R9104 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148642886-148666858 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 148664859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 789 (L789R)

Ref Sequence

ENSEMBL: ENSMUSP00000017408 (fasta)

Gene Model

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

AlphaFold

P56960

Predicted Effect

probably benign
Transcript: ENSMUST00000017408
AA Change: L789R

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000017408
Gene: ENSMUSG00000017264
AA Change: L789R

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: L764R

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000075401
Gene: ENSMUSG00000017264
AA Change: L764R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (69/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	T	8: 44,023,108 (GRCm39)	N127K	probably damaging	Het
Adgrl3	C	T	5: 81,457,912 (GRCm39)	A14V	probably benign	Het
Adra2b	A	G	2: 127,205,858 (GRCm39)	Y125C	probably damaging	Het
Ahnak	T	A	19: 8,987,711 (GRCm39)	H2998Q	probably benign	Het
B3galt1	C	A	2: 67,948,406 (GRCm39)	H40Q	probably benign	Het
Best3	T	G	10: 116,860,680 (GRCm39)	L647V	probably benign	Het
Brip1	T	A	11: 86,077,897 (GRCm39)	E177V	possibly damaging	Het
C1qtnf6	T	C	15: 78,409,109 (GRCm39)	D246G	probably benign	Het
C4b	G	A	17: 34,948,233 (GRCm39)	T1622M	probably benign	Het
Catip	G	A	1: 74,401,682 (GRCm39)		probably null	Het
Ccdc138	T	C	10: 58,348,982 (GRCm39)	V176A	probably benign	Het
Ccdc85a	T	C	11: 28,526,879 (GRCm39)	H243R	probably damaging	Het
Cep19	C	T	16: 31,925,883 (GRCm39)	T97M	probably damaging	Het
Copz2	G	A	11: 96,747,514 (GRCm39)	D166N	possibly damaging	Het
Dedd	C	T	1: 171,168,572 (GRCm39)	L253F	probably damaging	Het
Dennd5a	A	G	7: 109,497,713 (GRCm39)		probably null	Het
Dpp10	A	T	1: 123,339,484 (GRCm39)	S348T	probably damaging	Het
Eci3	A	G	13: 35,144,382 (GRCm39)		probably null	Het
Egr4	A	G	6: 85,490,337 (GRCm39)	S15P	probably benign	Het
Elp6	A	G	9: 110,134,397 (GRCm39)	T12A	probably benign	Het
Ewsr1	G	T	11: 5,041,367 (GRCm39)	P113T	unknown	Het
Flt4	A	G	11: 49,525,161 (GRCm39)	Y669C	probably damaging	Het
Foxred2	A	T	15: 77,836,517 (GRCm39)	F333I	probably damaging	Het
Frs2	G	T	10: 116,910,070 (GRCm39)	H431N	probably benign	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gm19410	T	C	8: 36,247,621 (GRCm39)	Y478H	probably damaging	Het
Gm3629	G	A	14: 17,834,542 (GRCm39)	R150C		Het
Grik4	A	C	9: 42,571,168 (GRCm39)	L179R	probably damaging	Het
Gsdmc3	C	T	15: 63,730,941 (GRCm39)		probably null	Het
Il20ra	T	A	10: 19,635,364 (GRCm39)	M535K	probably benign	Het
Il9	A	G	13: 56,628,401 (GRCm39)	V96A	possibly damaging	Het
Itgal	A	G	7: 126,910,794 (GRCm39)	D592G	probably damaging	Het
Klk1b11	C	T	7: 43,427,875 (GRCm39)		probably benign	Het
Klk1b27	G	A	7: 43,705,310 (GRCm39)	W159*	probably null	Het
Mapk9	T	C	11: 49,760,000 (GRCm39)	Y105H	probably damaging	Het
Mmp7	A	G	9: 7,697,947 (GRCm39)		probably benign	Het
Muc2	T	C	7: 141,286,224 (GRCm39)	I118T	probably damaging	Het
N4bp2l2	T	C	5: 150,566,724 (GRCm39)	N131D	unknown	Het
Nbea	A	C	3: 55,862,809 (GRCm39)	S1814R	probably benign	Het
Nlrp9c	G	T	7: 26,081,837 (GRCm39)	L630I	probably benign	Het
Or1j8	T	C	2: 36,191,956 (GRCm39)	V135A		Het
Or6c76	T	C	10: 129,612,521 (GRCm39)	V261A	probably damaging	Het
Or8g27	G	A	9: 39,128,831 (GRCm39)	M59I	probably damaging	Het
Pbx3	C	A	2: 34,114,629 (GRCm39)	D102Y	probably damaging	Het
Pdia6	G	A	12: 17,320,492 (GRCm39)	V44I	probably benign	Het
Pkdcc	G	A	17: 83,528,471 (GRCm39)	R280H	probably damaging	Het
Ppm1h	A	G	10: 122,638,264 (GRCm39)	E178G	probably benign	Het
Prom1	C	T	5: 44,172,161 (GRCm39)	S619N	probably benign	Het
Prtg	A	C	9: 72,755,607 (GRCm39)	I270L	probably damaging	Het
Rfx6	A	T	10: 51,599,106 (GRCm39)	H487L	probably damaging	Het
Rpl18a	A	C	8: 71,348,788 (GRCm39)	Y63D	probably benign	Het
Rtl1	T	A	12: 109,560,718 (GRCm39)	M374L	probably benign	Het
Scaper	A	G	9: 55,819,400 (GRCm39)	L105P	unknown	Het
Slc16a13	T	A	11: 70,111,530 (GRCm39)		probably benign	Het
Slc6a13	A	G	6: 121,313,044 (GRCm39)	K487R	probably benign	Het
Slc7a11	T	A	3: 50,332,082 (GRCm39)	T459S	probably benign	Het
Smarcad1	A	G	6: 65,075,649 (GRCm39)	Q708R	probably benign	Het
Stat2	T	C	10: 128,117,111 (GRCm39)		probably null	Het
Syde1	T	C	10: 78,421,670 (GRCm39)	H627R	probably benign	Het
Tas2r113	G	A	6: 132,870,116 (GRCm39)	R48H	probably benign	Het
Tbc1d16	T	C	11: 119,038,626 (GRCm39)	Y690C	probably damaging	Het
Tchh	A	T	3: 93,354,610 (GRCm39)	H1350L	unknown	Het
Tex15	T	A	8: 34,060,950 (GRCm39)	Y127N	possibly damaging	Het
Thsd4	T	C	9: 59,964,179 (GRCm39)	T438A	possibly damaging	Het
Tubg1	A	G	11: 101,015,099 (GRCm39)	D216G	probably benign	Het
Tyk2	T	C	9: 21,026,762 (GRCm39)	D642G	possibly damaging	Het
Uqcc1	C	T	2: 155,743,217 (GRCm39)		probably null	Het
Uvssa	A	C	5: 33,571,404 (GRCm39)	K683Q	probably damaging	Het
Vmn1r59	A	T	7: 5,457,166 (GRCm39)	M198K	probably benign	Het
Zfp772	T	A	7: 7,207,190 (GRCm39)	H167L	possibly damaging	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
R7698:Exosc10	UTSW	4	148,642,955 (GRCm39)	missense	probably benign
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
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'- GATGACCTGCAGACTGTGTG -3'
(R):5'- TGCTTGTCCCATGTACTGG -3'

Sequencing Primer
(F):5'- ACCTGCAGACTGTGTGTGTAAG -3'
(R):5'- CATGTACTGGACAGGACTCAC -3'

Posted On

2021-12-30