Mutagenetix > Incidental Mutation

Incidental Mutation 'R2271:Cops6'

242465

Institutional Source

Beutler Lab

Gene Symbol

Cops6

Ensembl Gene

ENSMUSG00000019494

Gene Name

COP9 signalosome subunit 6

Synonyms

COP9 complex S6, VIP/MOV34, Sgn3

MMRRC Submission

040271-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2271 (G1)

Quality Score

194

Status

Not validated

Chromosome

Chromosomal Location

138159364-138162246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138159403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 10 (N10I)

Ref Sequence

ENSEMBL: ENSMUSP00000019638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000505] [ENSMUST00000019638] [ENSMUST00000110951] [ENSMUST00000132639] [ENSMUST00000148879]

AlphaFold

O88545

Predicted Effect

probably benign
Transcript: ENSMUST00000000505

SMART Domains

Protein: ENSMUSP00000000505
Gene: ENSMUSG00000029730

Domain	Start	End	E-Value	Type
Blast:MCM	48	132	1e-41	BLAST
MCM	145	642	N/A	SMART
AAA	373	526	2.9e-4	SMART
Blast:MCM	658	719	1e-32	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000019638
AA Change: N10I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000019638
Gene: ENSMUSG00000019494
AA Change: N10I

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
JAB_MPN	37	170	9.73e-35	SMART
Pfam:MitMem_reg	191	304	1.1e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083593

Predicted Effect

probably benign
Transcript: ENSMUST00000110951

SMART Domains

Protein: ENSMUSP00000106576
Gene: ENSMUSG00000019494

Domain	Start	End	E-Value	Type
JAB_MPN	10	143	9.73e-35	SMART
Pfam:MitMem_reg	163	279	2.6e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125316

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154867

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127881

Predicted Effect

probably benign
Transcript: ENSMUST00000132639

SMART Domains

Protein: ENSMUSP00000121554
Gene: ENSMUSG00000019494

Domain	Start	End	E-Value	Type
Pfam:MitMem_reg	17	112	3.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148879

SMART Domains

Protein: ENSMUSP00000116131
Gene: ENSMUSG00000029730

Domain	Start	End	E-Value	Type
Blast:MCM	48	132	6e-44	BLAST
MCM	145	389	1.77e-15	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein belongs to translation initiation factor 3 (eIF3) superfamily. It is involved in the regulation of cell cycle and likely to be a cellular cofactor for HIV-1 accessory gene product Vpr. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele or a transgenic gene disruption exhibit embryonic lethality. Mice heterozygous for a gene trap allele exhibit increased sensitivity to irradiation and decreased incidence of ionizing radiation-induced tumors. [provided by MGI curators]

Allele List at MGI

All alleles(15) : Gene trapped(15)

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	A	10: 28,857,575 (GRCm39)	Q194L	probably damaging	Het
Acsf2	T	A	11: 94,449,699 (GRCm39)	K574*	probably null	Het
Adam22	T	C	5: 8,171,108 (GRCm39)	E614G	probably damaging	Het
Ap4e1	T	C	2: 126,889,083 (GRCm39)		probably null	Het
Arid3c	T	A	4: 41,724,744 (GRCm39)	I364F	probably damaging	Het
Bcan	T	A	3: 87,900,401 (GRCm39)	S611C	probably damaging	Het
Birc6	T	C	17: 74,909,966 (GRCm39)	V1453A	probably benign	Het
Carnmt1	T	C	19: 18,680,734 (GRCm39)	L336P	probably damaging	Het
Ccdc146	C	A	5: 21,604,719 (GRCm39)	D40Y	probably benign	Het
Ccdc83	C	T	7: 89,873,285 (GRCm39)	V357I	probably damaging	Het
Cdh22	A	T	2: 164,985,767 (GRCm39)		probably null	Het
Cdk5rap2	A	C	4: 70,184,915 (GRCm39)	S1178R	probably benign	Het
Cdkl3	T	C	11: 51,923,322 (GRCm39)	V45A	probably benign	Het
Chd7	A	G	4: 8,785,532 (GRCm39)	D612G	probably damaging	Het
Chst11	T	C	10: 83,027,004 (GRCm39)	Y144H	probably damaging	Het
Cyfip1	G	T	7: 55,549,705 (GRCm39)	R624L	probably null	Het
Cyp27a1	A	G	1: 74,775,846 (GRCm39)	N344D	probably damaging	Het
Des	T	G	1: 75,340,137 (GRCm39)	M348R	probably damaging	Het
Dis3l	T	A	9: 64,238,165 (GRCm39)	D109V	probably damaging	Het
Disp3	C	T	4: 148,356,059 (GRCm39)	R267Q	possibly damaging	Het
Dnah3	T	A	7: 119,574,352 (GRCm39)	I2136F	probably benign	Het
Dnah9	T	C	11: 66,003,188 (GRCm39)	D872G	probably benign	Het
Dnajb14	G	A	3: 137,591,141 (GRCm39)	G31S	probably benign	Het
Dop1a	T	G	9: 86,376,471 (GRCm39)	V235G	probably damaging	Het
Efcab6	T	A	15: 83,831,200 (GRCm39)	R571S	probably benign	Het
Emsy	T	G	7: 98,275,830 (GRCm39)	K352N	probably damaging	Het
Erbb4	T	C	1: 68,238,047 (GRCm39)	N814S	probably damaging	Het
Fgfbp1	T	A	5: 44,136,672 (GRCm39)	M207L	probably benign	Het
Filip1	T	C	9: 79,727,212 (GRCm39)	E469G	probably damaging	Het
Garem2	T	G	5: 30,321,972 (GRCm39)	L777R	probably damaging	Het
Garin5b	T	A	7: 4,761,186 (GRCm39)	T509S	probably benign	Het
Hkdc1	T	C	10: 62,253,677 (GRCm39)	T35A	probably benign	Het
Hps6	C	T	19: 45,994,121 (GRCm39)	A686V	possibly damaging	Het
Irs1	T	C	1: 82,266,180 (GRCm39)	S679G	probably benign	Het
Ism1	T	A	2: 139,599,293 (GRCm39)	I415N	probably damaging	Het
Kdm1b	TCATTGTCC	TCATTGTCCATTGTCC	13: 47,217,564 (GRCm39)		probably null	Het
Kpna1	G	A	16: 35,851,591 (GRCm39)	A392T	probably damaging	Het
Lipa	T	A	19: 34,488,290 (GRCm39)	R119*	probably null	Het
Lrrc37	T	C	11: 103,505,033 (GRCm39)	T2312A	possibly damaging	Het
Mocs1	A	T	17: 49,756,137 (GRCm39)	K198M	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msh5	A	G	17: 35,263,366 (GRCm39)	I154T	probably benign	Het
Muc6	T	A	7: 141,217,423 (GRCm39)	T2417S	possibly damaging	Het
Ncbp2	T	C	16: 31,775,769 (GRCm39)	Y138H	probably damaging	Het
Ndufv1	C	A	19: 4,058,347 (GRCm39)	R359L	probably benign	Het
Neu3	G	C	7: 99,462,650 (GRCm39)	R358G	probably benign	Het
Ntrk3	A	C	7: 78,166,471 (GRCm39)		probably null	Het
Or1n1	G	A	2: 36,749,637 (GRCm39)	S241F	probably damaging	Het
Or8b12i	T	A	9: 20,082,705 (GRCm39)	H54L	possibly damaging	Het
Or8j3	A	G	2: 86,028,161 (GRCm39)	F312L	probably benign	Het
Pik3c2b	T	C	1: 133,031,166 (GRCm39)	S1491P	probably benign	Het
Plb1	G	T	5: 32,450,586 (GRCm39)	D376Y	probably damaging	Het
Plch1	T	A	3: 63,651,956 (GRCm39)	K378N	probably damaging	Het
Plekhm1	C	T	11: 103,277,948 (GRCm39)	E383K	probably benign	Het
Plxnb1	T	C	9: 108,931,776 (GRCm39)		probably null	Het
Prkdc	A	G	16: 15,472,681 (GRCm39)		probably null	Het
Prpf8	T	A	11: 75,386,189 (GRCm39)	V946E	probably damaging	Het
Psma5-ps	A	G	10: 85,149,595 (GRCm39)		noncoding transcript	Het
Ptprh	C	A	7: 4,606,132 (GRCm39)		probably benign	Het
Rngtt	T	A	4: 33,500,302 (GRCm39)	C565*	probably null	Het
Sacs	A	G	14: 61,442,109 (GRCm39)	H1385R	probably benign	Het
Sec24a	A	G	11: 51,607,277 (GRCm39)	S656P	possibly damaging	Het
Serpinb13	A	T	1: 106,926,756 (GRCm39)	I251L	possibly damaging	Het
Shc1	G	A	3: 89,330,849 (GRCm39)	G91S	probably damaging	Het
Sin3b	T	A	8: 73,460,047 (GRCm39)	N211K	probably benign	Het
Slc22a2	A	T	17: 12,805,692 (GRCm39)	M148L	probably benign	Het
Slc3a1	G	A	17: 85,371,220 (GRCm39)	V591I	probably benign	Het
Slc47a2	A	T	11: 61,219,352 (GRCm39)		probably null	Het
Spag17	C	T	3: 100,014,113 (GRCm39)	P2129S	probably damaging	Het
Specc1l	C	T	10: 75,081,438 (GRCm39)	S278F	probably damaging	Het
Sphkap	T	A	1: 83,234,942 (GRCm39)	D1628V	probably damaging	Het
Themis3	C	T	17: 66,862,699 (GRCm39)	V420I	possibly damaging	Het
Ttc39d	A	G	17: 80,524,675 (GRCm39)	K445E	probably damaging	Het
U2surp	T	C	9: 95,373,473 (GRCm39)	E232G	possibly damaging	Het
Usp25	T	A	16: 76,873,317 (GRCm39)	F458L	probably damaging	Het
Usp7	T	C	16: 8,516,333 (GRCm39)	S649G	probably benign	Het
Vmn1r10	A	G	6: 57,091,088 (GRCm39)	T227A	probably damaging	Het
Zcchc12	C	T	X: 35,462,118 (GRCm39)	T345M	possibly damaging	Het
Zfp444	T	C	7: 6,192,554 (GRCm39)	C191R	probably damaging	Het
Zfp729b	A	T	13: 67,740,352 (GRCm39)	C648S	probably damaging	Het
Zfp799	A	G	17: 33,040,777 (GRCm39)	Y58H	probably damaging	Het
Zfp938	C	T	10: 82,061,381 (GRCm39)	G413D	probably damaging	Het

Other mutations in Cops6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00814:Cops6	APN	5	138,161,640 (GRCm39)	missense	probably damaging	1.00
IGL00929:Cops6	APN	5	138,159,648 (GRCm39)	start codon destroyed	probably null	0.02
IGL01122:Cops6	APN	5	138,160,635 (GRCm39)	missense	probably benign	0.42
IGL02652:Cops6	APN	5	138,159,700 (GRCm39)	splice site	probably null
R0593:Cops6	UTSW	5	138,161,842 (GRCm39)	missense	probably benign	0.18
R5011:Cops6	UTSW	5	138,160,459 (GRCm39)	missense	probably benign	0.00
R5294:Cops6	UTSW	5	138,159,378 (GRCm39)	unclassified	probably benign
R5394:Cops6	UTSW	5	138,161,762 (GRCm39)	splice site	probably null
R6225:Cops6	UTSW	5	138,159,673 (GRCm39)	missense	possibly damaging	0.91
R6526:Cops6	UTSW	5	138,162,162 (GRCm39)	splice site	probably null
R6943:Cops6	UTSW	5	138,161,790 (GRCm39)	missense	probably benign	0.43
R7242:Cops6	UTSW	5	138,161,842 (GRCm39)	missense	probably benign	0.18
R8692:Cops6	UTSW	5	138,162,083 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GAGACCTGGAAACTAATAGCCCTC -3'
(R):5'- TTTTCCCCTAGACATGGAAGC -3'

Sequencing Primer
(F):5'- CTGGTTTACATGAGAACCGCTAGC -3'
(R):5'- CCCTAGACATGGAAGCAGGGG -3'

Posted On

2014-10-16