Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00468:Cops5'

7534

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cops5

Ensembl Gene

ENSMUSG00000025917

Gene Name

COP9 signalosome subunit 5

Synonyms

COP9 complex S5, CSN5, Sgn5, JUN activation binding protein, Jab1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00468

Quality Score

Status

Chromosome

Chromosomal Location

10094825-10108384 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 10104295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 132 (G132W)

Ref Sequence

ENSEMBL: ENSMUSP00000140115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027050] [ENSMUST00000071087] [ENSMUST00000117415] [ENSMUST00000186528] [ENSMUST00000188619] [ENSMUST00000191012]

AlphaFold

O35864

Predicted Effect

probably damaging
Transcript: ENSMUST00000027050
AA Change: G149W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027050
Gene: ENSMUSG00000025917
AA Change: G149W

Domain	Start	End	E-Value	Type
Blast:JAB_MPN	8	49	8e-12	BLAST
JAB_MPN	54	191	1.19e-52	SMART
Blast:JAB_MPN	192	249	5e-30	BLAST
low complexity region	250	256	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071087

SMART Domains

Protein: ENSMUSP00000068804
Gene: ENSMUSG00000056763

Domain	Start	End	E-Value	Type
low complexity region	10	24	N/A	INTRINSIC
low complexity region	270	285	N/A	INTRINSIC
coiled coil region	349	383	N/A	INTRINSIC
low complexity region	426	447	N/A	INTRINSIC
low complexity region	465	484	N/A	INTRINSIC
coiled coil region	568	610	N/A	INTRINSIC
Pfam:CCDC66	661	810	2e-11	PFAM
coiled coil region	866	903	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117415

SMART Domains

Protein: ENSMUSP00000112800
Gene: ENSMUSG00000056763

Domain	Start	End	E-Value	Type
low complexity region	10	24	N/A	INTRINSIC
low complexity region	270	285	N/A	INTRINSIC
low complexity region	295	306	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139578

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150509

Predicted Effect

probably benign
Transcript: ENSMUST00000186528

Predicted Effect

probably damaging
Transcript: ENSMUST00000188619
AA Change: G132W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140115
Gene: ENSMUSG00000025917
AA Change: G132W

Domain	Start	End	E-Value	Type
JAB_MPN	37	174	5.3e-55	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000190155
AA Change: G89W

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190610

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191360

Predicted Effect

probably benign
Transcript: ENSMUST00000191012

SMART Domains

Protein: ENSMUSP00000140856
Gene: ENSMUSG00000056763

Domain	Start	End	E-Value	Type
low complexity region	10	24	N/A	INTRINSIC

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 is reported to be involved in the degradation of cyclin-dependent kinase inhibitor CDKN1B/p27Kip1. It is also known to be an coactivator that increases the specificity of JUN/AP1 transcription factors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice die soon after implantation and exhibit growth-retardation, decrease in cell proliferation, and an increase in cell apoptosis. [provided by MGI curators]

Allele List at MGI

All alleles(14) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(12)

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,630,453 (GRCm39)	E123G	probably damaging	Het
Alpk2	A	T	18: 65,438,894 (GRCm39)	L1300Q	probably benign	Het
Armc9	T	C	1: 86,126,061 (GRCm39)	Y51H	probably damaging	Het
Bcl11b	A	G	12: 107,932,074 (GRCm39)	V166A	possibly damaging	Het
Cfap70	T	A	14: 20,462,530 (GRCm39)	D565V	possibly damaging	Het
Dync1i1	G	A	6: 5,972,135 (GRCm39)	V468M	probably damaging	Het
Fasn	A	C	11: 120,711,365 (GRCm39)	D216E	probably damaging	Het
Fktn	T	A	4: 53,734,866 (GRCm39)	I168K	probably benign	Het
Gal3st2c	A	G	1: 93,936,771 (GRCm39)	R239G	probably benign	Het
Glt6d1	A	C	2: 25,701,041 (GRCm39)	L36R	probably damaging	Het
Herc3	A	G	6: 58,895,751 (GRCm39)	I1000V	probably benign	Het
Hycc2	T	G	1: 58,569,391 (GRCm39)	E396A	probably benign	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Lhcgr	C	T	17: 89,049,874 (GRCm39)	V551I	probably benign	Het
Lmna	G	T	3: 88,391,991 (GRCm39)	S437R	probably benign	Het
Lrrc49	A	G	9: 60,595,151 (GRCm39)		probably benign	Het
Lrriq3	A	G	3: 154,806,816 (GRCm39)	D155G	probably damaging	Het
Mcf2	G	A	X: 59,179,095 (GRCm39)	T104I	probably damaging	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mipep	A	G	14: 61,112,709 (GRCm39)	E664G	probably benign	Het
Mybpc1	A	T	10: 88,385,124 (GRCm39)	V519D	probably damaging	Het
Nfil3	C	A	13: 53,121,610 (GRCm39)	L431F	probably damaging	Het
Sctr	T	A	1: 119,972,450 (GRCm39)	V197E	probably damaging	Het
Sesn2	T	C	4: 132,227,124 (GRCm39)	T103A	probably benign	Het
Sptbn4	A	T	7: 27,117,390 (GRCm39)	V453D	probably damaging	Het
Supt5	A	T	7: 28,014,807 (GRCm39)	H1023Q	probably benign	Het
Tcof1	T	C	18: 60,947,640 (GRCm39)		probably benign	Het
Tekt2	T	A	4: 126,216,982 (GRCm39)	E262D	possibly damaging	Het
Tenm4	T	A	7: 96,523,679 (GRCm39)	H1732Q	probably damaging	Het
Tln2	T	C	9: 67,251,469 (GRCm39)	D840G	possibly damaging	Het
Tox4	A	G	14: 52,523,202 (GRCm39)	D54G	probably damaging	Het

Other mutations in Cops5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01759:Cops5	APN	1	10,097,474 (GRCm39)	missense	probably damaging	0.99
IGL02141:Cops5	APN	1	10,105,342 (GRCm39)	missense	probably damaging	1.00
IGL02492:Cops5	APN	1	10,097,377 (GRCm39)	missense	probably benign
R1491:Cops5	UTSW	1	10,104,243 (GRCm39)	missense	possibly damaging	0.88
R2055:Cops5	UTSW	1	10,102,562 (GRCm39)	critical splice donor site	probably null
R4163:Cops5	UTSW	1	10,100,912 (GRCm39)	missense	probably damaging	1.00
R5945:Cops5	UTSW	1	10,108,235 (GRCm39)	utr 5 prime	probably benign
R6295:Cops5	UTSW	1	10,100,920 (GRCm39)	utr 3 prime	probably benign
R6419:Cops5	UTSW	1	10,103,532 (GRCm39)	missense	probably damaging	1.00
R6487:Cops5	UTSW	1	10,108,004 (GRCm39)	missense	probably benign	0.13
R6817:Cops5	UTSW	1	10,100,829 (GRCm39)	missense	probably benign	0.03
R7012:Cops5	UTSW	1	10,100,890 (GRCm39)	makesense	probably null
R9588:Cops5	UTSW	1	10,108,222 (GRCm39)	missense	unknown

Posted On

2012-04-20