Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02141:Cops5'

281554

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cops5

Ensembl Gene

ENSMUSG00000025917

Gene Name

COP9 signalosome subunit 5

Synonyms

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

Accession Numbers

Genbank: NM_013715; MGI: 1349415

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02141

Quality Score

Status

Chromosome

Chromosomal Location

10024601-10038168 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10035117 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 47 (K47E)

Ref Sequence

ENSEMBL: ENSMUSP00000140115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027050] [ENSMUST00000071087] [ENSMUST00000117415] [ENSMUST00000118263] [ENSMUST00000119714] [ENSMUST00000122156] [ENSMUST00000188619] [ENSMUST00000191012] [ENSMUST00000186528]

AlphaFold

O35864

Predicted Effect

probably damaging
Transcript: ENSMUST00000027050
AA Change: K64E

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

SMART Domains

Protein: ENSMUSP00000027050
Gene: ENSMUSG00000025917
AA Change: K64E

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

probably benign
Transcript: ENSMUST00000118263

SMART Domains

Protein: ENSMUSP00000112476
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

probably benign
Transcript: ENSMUST00000119714

SMART Domains

Protein: ENSMUSP00000114091
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

probably benign
Transcript: ENSMUST00000122156

SMART Domains

Protein: ENSMUSP00000113663
Gene: ENSMUSG00000056763

Domain	Start	End	E-Value	Type
low complexity region	10	24	N/A	INTRINSIC
low complexity region	278	293	N/A	INTRINSIC
low complexity region	303	314	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139578

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150509

Predicted Effect

probably damaging
Transcript: ENSMUST00000188619
AA Change: K47E

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

SMART Domains

Protein: ENSMUSP00000140115
Gene: ENSMUSG00000025917
AA Change: K47E

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

Predicted Effect

unknown
Transcript: ENSMUST00000190155
AA Change: K4E

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190610

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191360

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190063

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191296

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

Predicted Effect

probably benign
Transcript: ENSMUST00000186528

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	C	T	5: 146,183,465	A188T	probably benign	Het
2310022B05Rik	A	T	8: 124,637,906		probably benign	Het
4931423N10Rik	T	C	2: 23,230,200	F203L	probably damaging	Het
Arntl2	T	A	6: 146,828,095		probably benign	Het
Atf6b	C	A	17: 34,653,277	H539Q	probably benign	Het
Bpifb5	G	T	2: 154,229,557		probably null	Het
Cep89	T	A	7: 35,420,924	M377K	probably damaging	Het
Clpx	G	T	9: 65,312,118		probably null	Het
Cryba2	T	C	1: 74,892,784	N35S	probably benign	Het
Ddx27	A	G	2: 167,020,523	K162E	possibly damaging	Het
Dhx36	A	G	3: 62,493,889	S319P	probably benign	Het
Dram2	A	G	3: 106,571,696		probably benign	Het
Eci2	T	A	13: 34,978,673	T300S	probably benign	Het
Egf	C	A	3: 129,739,982	G70*	probably null	Het
Eif5b	T	C	1: 38,032,322	V444A	probably benign	Het
Elf3	T	C	1: 135,257,707	D23G	possibly damaging	Het
Epb41l4b	A	T	4: 57,103,422		probably null	Het
Fam167a	T	A	14: 63,452,259	S2T	probably benign	Het
Flrt3	A	G	2: 140,660,688	V340A	probably damaging	Het
Gimap3	T	C	6: 48,765,378	E206G	probably benign	Het
Gp6	T	C	7: 4,394,104		probably benign	Het
Gpr158	A	T	2: 21,783,290	M581L	probably damaging	Het
Hapln3	A	G	7: 79,118,145	V167A	probably damaging	Het
Hnrnpll	G	A	17: 80,050,713	T203I	probably benign	Het
Ighv3-6	A	G	12: 114,288,362	I47T	probably damaging	Het
Iqgap1	G	A	7: 80,738,121	T926M	probably damaging	Het
Lonp1	A	T	17: 56,615,086	S765T	probably benign	Het
Lpp	C	T	16: 24,761,615	S27F	probably damaging	Het
Lrit2	T	C	14: 37,068,074		probably benign	Het
Luc7l	C	A	17: 26,253,080	T17K	probably damaging	Het
Mroh1	G	T	15: 76,446,599	S1161I	possibly damaging	Het
Muc5b	T	G	7: 141,853,367	C1091G	unknown	Het
Mut	A	G	17: 40,938,817	T228A	possibly damaging	Het
Nppb	A	T	4: 147,986,006	I11F	probably benign	Het
Nsf	A	T	11: 103,828,525	D650E	probably benign	Het
Ogdh	A	G	11: 6,355,015	K907E	probably damaging	Het
Olfr1351	A	G	10: 79,017,721	Y133C	probably damaging	Het
Olfr344	A	G	2: 36,568,808	D70G	probably damaging	Het
Olfr362	G	A	2: 37,105,425	S75F	probably benign	Het
Pcnx	A	T	12: 81,860,382	Q4L	possibly damaging	Het
Pgc	T	A	17: 47,726,931	L9H	probably damaging	Het
Pikfyve	T	A	1: 65,246,397	S887T	probably benign	Het
Plec	T	C	15: 76,175,615	D3239G	probably damaging	Het
Pole4	T	C	6: 82,648,034	T116A	probably benign	Het
Prpf8	A	G	11: 75,490,672	N300D	possibly damaging	Het
Rara	T	A	11: 98,968,081	Y119N	probably damaging	Het
Rbck1	G	T	2: 152,318,374	R462S	possibly damaging	Het
Setdb2	C	T	14: 59,402,315	R709Q	probably damaging	Het
Slfn2	C	A	11: 83,069,844	N216K	probably benign	Het
Suox	A	G	10: 128,672,098		probably benign	Het
Tars	T	A	15: 11,391,194	Y283F	probably damaging	Het
Trpm4	A	T	7: 45,318,179		probably null	Het
Ubtd2	A	T	11: 32,499,262	K36N	probably benign	Het
Unkl	T	C	17: 25,229,434	L327P	probably damaging	Het
Vmn1r11	T	A	6: 57,137,379	Y9*	probably null	Het
Vps13b	T	C	15: 35,572,081	V948A	probably benign	Het
Zbtb17	A	G	4: 141,464,953	H403R	probably damaging	Het

Other mutations in Cops5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Cops5	APN	1	10034070	missense	probably damaging	1.00
IGL01759:Cops5	APN	1	10027249	missense	probably damaging	0.99
IGL02492:Cops5	APN	1	10027152	missense	probably benign
R1491:Cops5	UTSW	1	10034018	missense	possibly damaging	0.88
R2055:Cops5	UTSW	1	10032337	critical splice donor site	probably null
R4163:Cops5	UTSW	1	10030687	missense	probably damaging	1.00
R5945:Cops5	UTSW	1	10038010	utr 5 prime	probably benign
R6295:Cops5	UTSW	1	10030695	utr 3 prime	probably benign
R6419:Cops5	UTSW	1	10033307	missense	probably damaging	1.00
R6487:Cops5	UTSW	1	10037779	missense	probably benign	0.13
R6817:Cops5	UTSW	1	10030604	missense	probably benign	0.03
R7012:Cops5	UTSW	1	10030665	makesense	probably null
R9588:Cops5	UTSW	1	10037997	missense	unknown

Posted On

2015-04-16