Mutagenetix > Incidental Mutation

Incidental Mutation 'R1593:Exosc7'

175617

Institutional Source

Beutler Lab

Gene Symbol

Exosc7

Ensembl Gene

ENSMUSG00000025785

Gene Name

exosome component 7

Synonyms

2610002K22Rik

MMRRC Submission

039630-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R1593 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122942310-122965194 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 122961058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 242 (V242L)

Ref Sequence

ENSEMBL: ENSMUSP00000026891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026891] [ENSMUST00000215377]

AlphaFold

Q9D0M0

Predicted Effect

probably benign
Transcript: ENSMUST00000026891
AA Change: V242L

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

SMART Domains

Protein: ENSMUSP00000026891
Gene: ENSMUSG00000025785
AA Change: V242L

Domain	Start	End	E-Value	Type
Pfam:RNase_PH	31	166	5.8e-27	PFAM
Pfam:RNase_PH_C	196	262	1.4e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214741

Predicted Effect

probably benign
Transcript: ENSMUST00000215377

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215590

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	T	11: 100,372,581 (GRCm39)	I902N	possibly damaging	Het
Acsl6	A	G	11: 54,214,134 (GRCm39)	D88G	probably damaging	Het
Adam1a	A	C	5: 121,657,706 (GRCm39)	I529S	probably benign	Het
Ap3b1	T	C	13: 94,638,435 (GRCm39)	V838A	unknown	Het
Arrdc2	T	C	8: 71,289,764 (GRCm39)	Y280C	probably damaging	Het
Atg10	T	C	13: 91,302,380 (GRCm39)	T53A	probably benign	Het
Ccdc136	T	C	6: 29,415,583 (GRCm39)	S699P	probably damaging	Het
Cdc23	C	A	18: 34,769,379 (GRCm39)	V462L	possibly damaging	Het
Clcn6	C	T	4: 148,099,051 (GRCm39)	A431T	probably benign	Het
Cntn6	T	G	6: 104,809,541 (GRCm39)	H525Q	possibly damaging	Het
Ctr9	T	C	7: 110,642,060 (GRCm39)	F296S	possibly damaging	Het
Ctsq	T	A	13: 61,183,986 (GRCm39)		probably null	Het
Ehd1	A	G	19: 6,348,330 (GRCm39)	D436G		Het
Epha6	A	T	16: 60,245,267 (GRCm39)	F311I	probably damaging	Het
Esrrg	A	T	1: 187,798,582 (GRCm39)	T150S	possibly damaging	Het
Exoc2	C	A	13: 31,040,744 (GRCm39)	R758L	possibly damaging	Het
Fcho2	T	C	13: 98,921,315 (GRCm39)	D190G	possibly damaging	Het
Fgd6	T	C	10: 93,880,894 (GRCm39)	S583P	probably damaging	Het
Frmd4a	A	G	2: 4,477,999 (GRCm39)	Y60C	probably damaging	Het
Gldc	A	T	19: 30,091,150 (GRCm39)	I815N	probably damaging	Het
Grm2	A	T	9: 106,528,113 (GRCm39)	L257Q	probably damaging	Het
Hectd3	C	A	4: 116,854,217 (GRCm39)	T289K	possibly damaging	Het
Itgb4	T	C	11: 115,871,817 (GRCm39)	V207A	probably damaging	Het
Lamb3	A	G	1: 193,013,104 (GRCm39)	E443G	probably damaging	Het
Meis2	T	A	2: 115,830,745 (GRCm39)	D256V	probably damaging	Het
Muc4	A	G	16: 32,754,686 (GRCm38)	N1520S	probably benign	Het
Nckap1l	A	G	15: 103,387,281 (GRCm39)	R719G	probably null	Het
Or6c210	A	T	10: 129,496,094 (GRCm39)	R140*	probably null	Het
Pabpc6	A	T	17: 9,886,742 (GRCm39)	M603K	probably damaging	Het
Pcnx2	C	A	8: 126,486,012 (GRCm39)	R1862L	probably benign	Het
Pgap6	T	A	17: 26,337,381 (GRCm39)	I399N	possibly damaging	Het
Pon2	T	C	6: 5,273,003 (GRCm39)	D122G	probably benign	Het
Ppig	T	A	2: 69,579,425 (GRCm39)	W378R	unknown	Het
Ralgapa1	T	A	12: 55,817,488 (GRCm39)	E389D	probably damaging	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Rarg	A	G	15: 102,148,376 (GRCm39)	F233L	probably damaging	Het
Rasgrp2	T	C	19: 6,453,490 (GRCm39)	F90L	possibly damaging	Het
Rrp12	T	A	19: 41,851,680 (GRCm39)	H1285L	probably benign	Het
Slc16a13	C	A	11: 70,109,908 (GRCm39)	A198S	probably benign	Het
Spag9	A	G	11: 93,988,059 (GRCm39)	D441G	probably damaging	Het
Stxbp5l	A	G	16: 36,936,414 (GRCm39)	F1099S	probably damaging	Het
Tex19.1	T	A	11: 121,038,079 (GRCm39)	W146R	probably damaging	Het
Tmod3	T	C	9: 75,418,445 (GRCm39)	D197G	probably benign	Het
Tpp2	A	G	1: 44,014,593 (GRCm39)	H644R	probably benign	Het
Trpm2	A	G	10: 77,778,910 (GRCm39)	V352A	possibly damaging	Het
Tulp1	T	C	17: 28,581,675 (GRCm39)	K233E	probably damaging	Het
Vsir	A	G	10: 60,193,737 (GRCm39)	T67A	possibly damaging	Het
Wdr49	T	C	3: 75,304,248 (GRCm39)	N487S	probably benign	Het
Zbtb20	A	G	16: 43,429,786 (GRCm39)	N99S	probably damaging	Het
Zfp583	C	T	7: 6,320,008 (GRCm39)	G335S	probably benign	Het
Zgrf1	T	A	3: 127,354,675 (GRCm39)	V98E	possibly damaging	Het

Other mutations in Exosc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01936:Exosc7	APN	9	122,964,956 (GRCm39)	splice site	probably benign
R0029:Exosc7	UTSW	9	122,948,302 (GRCm39)	splice site	probably benign
R0029:Exosc7	UTSW	9	122,948,302 (GRCm39)	splice site	probably benign
R0268:Exosc7	UTSW	9	122,948,025 (GRCm39)	missense	probably benign	0.08
R0319:Exosc7	UTSW	9	122,960,025 (GRCm39)	unclassified	probably benign
R0830:Exosc7	UTSW	9	122,948,358 (GRCm39)	missense	probably benign	0.00
R5388:Exosc7	UTSW	9	122,947,972 (GRCm39)	missense	probably damaging	1.00
R6534:Exosc7	UTSW	9	122,961,077 (GRCm39)	missense	probably benign	0.09
R6886:Exosc7	UTSW	9	122,965,023 (GRCm39)	missense	probably benign	0.04
R7313:Exosc7	UTSW	9	122,948,013 (GRCm39)	missense	probably benign	0.43
R7833:Exosc7	UTSW	9	122,959,984 (GRCm39)	missense	probably benign
R8313:Exosc7	UTSW	9	122,956,942 (GRCm39)	missense	probably damaging	0.96
R8981:Exosc7	UTSW	9	122,942,365 (GRCm39)	missense	probably benign
R9789:Exosc7	UTSW	9	122,959,990 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAATGAACCATGATGACAGTGTTGAG -3'
(R):5'- ACCAAAATGCAGCCACTAGGGATTAG -3'

Sequencing Primer
(F):5'- CAGCATTTTCCAGATGAGCAG -3'
(R):5'- CTTGGTGAAGATAAACAGTCACTAGC -3'

Posted On

2014-04-24