Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01122:Cops6'

51149

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cops6

Ensembl Gene

ENSMUSG00000019494

Gene Name

COP9 signalosome subunit 6

Synonyms

COP9 complex S6, VIP/MOV34, Sgn3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01122

Quality Score

Status

Chromosome

Chromosomal Location

138159364-138162246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138160635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 129 (K129E)

Ref Sequence

ENSEMBL: ENSMUSP00000106576 (fasta)

Gene Model

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

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: K156E

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000019638
Gene: ENSMUSG00000019494
AA Change: K156E

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
AA Change: K129E

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106576
Gene: ENSMUSG00000019494
AA Change: K129E

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: ENSMUST00000127881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154867

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

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

Coding Region Coverage

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap6	A	T	X: 168,029,666 (GRCm39)	K142N	possibly damaging	Het
Atp13a1	T	A	8: 70,251,555 (GRCm39)	L540Q	probably damaging	Het
Cacna1a	T	C	8: 85,341,422 (GRCm39)		probably null	Het
Cracd	T	C	5: 77,018,522 (GRCm39)	*1289Q	probably null	Het
Cyp11a1	T	C	9: 57,923,589 (GRCm39)	I98T	probably damaging	Het
Cyp2c65	A	G	19: 39,060,621 (GRCm39)		probably null	Het
Dapl1	A	T	2: 59,324,839 (GRCm39)	K30I	probably damaging	Het
Dlg2	A	G	7: 92,091,816 (GRCm39)	M894V	possibly damaging	Het
Eme2	C	T	17: 25,112,320 (GRCm39)	A202T	possibly damaging	Het
Fbxw22	A	T	9: 109,215,739 (GRCm39)	S170T	probably damaging	Het
Havcr2	A	G	11: 46,347,254 (GRCm39)	Y77C	probably damaging	Het
Ivd	T	A	2: 118,707,361 (GRCm39)		probably benign	Het
Map3k9	T	C	12: 81,778,900 (GRCm39)	D471G	possibly damaging	Het
Med12	T	C	X: 100,325,149 (GRCm39)		probably benign	Het
Megf6	C	T	4: 154,338,264 (GRCm39)	R445W	probably damaging	Het
Mptx1	A	G	1: 174,159,964 (GRCm39)	Y90C	probably damaging	Het
Nek1	G	A	8: 61,574,000 (GRCm39)	V1083I	possibly damaging	Het
Nepn	T	A	10: 52,267,911 (GRCm39)	I59N	probably damaging	Het
Or4a72	A	G	2: 89,405,767 (GRCm39)	I101T	possibly damaging	Het
Pbdc1	T	C	X: 104,126,297 (GRCm39)		probably benign	Het
Phlpp1	G	T	1: 106,101,166 (GRCm39)	R478L	possibly damaging	Het
Ppp2r3c	C	T	12: 55,344,587 (GRCm39)	G127D	probably benign	Het
Ppp2r3d	A	G	9: 101,088,844 (GRCm39)	L493P	probably benign	Het
Pramel24	A	G	4: 143,454,971 (GRCm39)	D423G	probably benign	Het
Psap	T	C	10: 60,135,253 (GRCm39)	V303A	probably benign	Het
Rdh13	T	C	7: 4,445,694 (GRCm39)	K60R	probably benign	Het
Scaf4	A	G	16: 90,045,518 (GRCm39)	S528P	unknown	Het
Sfmbt1	A	G	14: 30,532,268 (GRCm39)	I543V	probably damaging	Het
Speg	T	C	1: 75,386,679 (GRCm39)	L1271P	probably damaging	Het
Stard9	C	A	2: 120,528,960 (GRCm39)	T1739K	possibly damaging	Het
Tas2r134	G	T	2: 51,517,671 (GRCm39)	C50F	probably damaging	Het
Tmprss11b	G	T	5: 86,811,376 (GRCm39)	T186K	probably benign	Het
U2surp	G	T	9: 95,372,287 (GRCm39)	Q291K	probably benign	Het
Ulk4	A	G	9: 120,997,358 (GRCm39)	I738T	possibly damaging	Het
Urb1	A	T	16: 90,601,346 (GRCm39)	S142T	possibly damaging	Het
Vmn2r112	T	A	17: 22,821,988 (GRCm39)	I222N	probably benign	Het
Zmym4	T	C	4: 126,758,045 (GRCm39)	N1503S	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
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
R2271:Cops6	UTSW	5	138,159,403 (GRCm39)	missense	probably benign	0.00
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

Posted On

2013-06-21