Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00929:Cops6'

27438

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 #

IGL00929

Quality Score

Status

Chromosome

Chromosomal Location

138159364-138162246 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 138159648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

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: M28V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000019638
Gene: ENSMUSG00000019494
AA Change: M28V

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 null
Transcript: ENSMUST00000110951
AA Change: M1V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000106576
Gene: ENSMUSG00000019494
AA Change: M1V

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: 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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp1	A	T	12: 30,954,899 (GRCm39)	H67Q	probably damaging	Het
Ankrd13b	A	G	11: 77,363,578 (GRCm39)	S247P	probably damaging	Het
Aqp4	C	T	18: 15,526,656 (GRCm39)	G275E	probably benign	Het
Arhgef15	A	T	11: 68,844,928 (GRCm39)	L223Q	probably damaging	Het
Asb13	A	G	13: 3,699,427 (GRCm39)	Y209C	probably damaging	Het
Cdk18	A	G	1: 132,046,257 (GRCm39)		probably null	Het
Cntnap5a	G	A	1: 115,988,004 (GRCm39)		probably null	Het
Dab2ip	A	T	2: 35,598,889 (GRCm39)	M137L	possibly damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Lemd1	A	G	1: 132,184,447 (GRCm39)	D73G	probably benign	Het
Lpin1	G	A	12: 16,623,700 (GRCm39)	S228L	probably benign	Het
Mtcl3	C	A	10: 29,024,288 (GRCm39)	N401K	probably damaging	Het
Mtmr9	A	G	14: 63,780,946 (GRCm39)	L48P	probably damaging	Het
Ncoa3	T	A	2: 165,893,529 (GRCm39)		probably null	Het
Ndc1	T	A	4: 107,246,694 (GRCm39)	N372K	probably benign	Het
Ndufa2	A	G	18: 36,877,228 (GRCm39)		probably benign	Het
Nmt1	A	T	11: 102,950,902 (GRCm39)		probably null	Het
Or52s1	A	T	7: 102,861,892 (GRCm39)	H264L	probably damaging	Het
Pcdhgb6	T	C	18: 37,876,758 (GRCm39)	Y489H	probably damaging	Het
Rttn	A	T	18: 89,047,059 (GRCm39)	K907M	probably damaging	Het
Sos1	T	C	17: 80,716,025 (GRCm39)	Y979C	probably damaging	Het
Spag6l	C	T	16: 16,584,877 (GRCm39)	A424T	possibly damaging	Het
Stt3b	A	T	9: 115,095,233 (GRCm39)	I266N	probably damaging	Het
Tet3	A	G	6: 83,345,637 (GRCm39)	L1600P	probably benign	Het
Tiam1	T	A	16: 89,591,627 (GRCm39)	I1358F	probably damaging	Het
Usp37	G	T	1: 74,529,313 (GRCm39)	T122N	probably benign	Het
Vit	T	C	17: 78,886,830 (GRCm39)	S153P	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
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
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

2013-04-17