Mutagenetix > Incidental Mutation

Incidental Mutation 'R6419:Cops5'

517975

Institutional Source

Beutler Lab

Gene Symbol

Cops5

Ensembl Gene

ENSMUSG00000025917

Gene Name

COP9 signalosome subunit 5

Synonyms

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

MMRRC Submission

044561-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6419 (G1)

Quality Score

216.009

Status

Validated

Chromosome

Chromosomal Location

10094825-10108384 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10103532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 158 (T158I)

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: T175I

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

SMART Domains

Protein: ENSMUSP00000027050
Gene: ENSMUSG00000025917
AA Change: T175I

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: T158I

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

SMART Domains

Protein: ENSMUSP00000140115
Gene: ENSMUSG00000025917
AA Change: T158I

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

Predicted Effect

unknown
Transcript: ENSMUST00000190155
AA Change: T115I

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

noncoding transcript
Transcript: ENSMUST00000191296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190610

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191360

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.3%

Validation Efficiency

96% (67/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578G10Rik	T	C	4: 42,812,473 (GRCm39)		probably benign	Het
Abcc2	T	A	19: 43,825,947 (GRCm39)		probably null	Het
Adamts12	C	T	15: 11,215,759 (GRCm39)	T260M	possibly damaging	Het
Adamts20	C	T	15: 94,231,556 (GRCm39)	V878I	possibly damaging	Het
Adgrl4	A	G	3: 151,144,953 (GRCm39)	E34G	probably damaging	Het
Asah1	A	T	8: 41,796,803 (GRCm39)	I293N	probably damaging	Het
Atosa	G	A	9: 74,916,619 (GRCm39)	S413N	probably benign	Het
B3galt2	A	T	1: 143,522,839 (GRCm39)	E325V	possibly damaging	Het
Baz1b	T	A	5: 135,271,348 (GRCm39)	H1310Q	probably benign	Het
Ccdc125	T	A	13: 100,826,834 (GRCm39)	N204K	probably damaging	Het
Cd36	C	T	5: 18,002,150 (GRCm39)	D284N	probably benign	Het
Cdh12	T	C	15: 21,520,483 (GRCm39)	L316S	probably damaging	Het
Cenpv	T	C	11: 62,416,008 (GRCm39)	K247R	probably benign	Het
Cldn18	T	C	9: 99,574,801 (GRCm39)	H257R	possibly damaging	Het
Cnot8	T	A	11: 58,004,891 (GRCm39)	Y197N	probably damaging	Het
Cog3	A	T	14: 75,962,178 (GRCm39)	C554*	probably null	Het
Col4a4	A	G	1: 82,444,207 (GRCm39)		probably null	Het
Dhh	A	G	15: 98,792,282 (GRCm39)	F242S	probably damaging	Het
Dot1l	T	C	10: 80,627,315 (GRCm39)	V1512A	possibly damaging	Het
Dstn	T	G	2: 143,781,907 (GRCm39)	I116S	possibly damaging	Het
Egfem1	G	A	3: 29,711,398 (GRCm39)	D326N	probably damaging	Het
Enpp3	A	T	10: 24,684,089 (GRCm39)	Y52N	probably damaging	Het
Gabra2	A	G	5: 71,119,426 (GRCm39)	S359P	probably benign	Het
Gbp7	G	A	3: 142,252,214 (GRCm39)	G599E	probably benign	Het
Gcat	T	G	15: 78,920,264 (GRCm39)	I198S	probably damaging	Het
Gm8439	A	G	4: 120,466,755 (GRCm39)	K82R	unknown	Het
Grin2b	A	G	6: 135,717,965 (GRCm39)	F709S	probably damaging	Het
Grm3	T	C	5: 9,620,201 (GRCm39)	N348D	probably damaging	Het
Hdgfl1	G	A	13: 26,954,075 (GRCm39)		probably benign	Het
Hmgxb3	G	T	18: 61,285,296 (GRCm39)	D564E	possibly damaging	Het
Igkv4-61	C	A	6: 69,394,138 (GRCm39)	A31S	possibly damaging	Het
Impg1	A	G	9: 80,287,300 (GRCm39)	V305A	probably benign	Het
Ints7	T	A	1: 191,334,414 (GRCm39)	S313T	possibly damaging	Het
Knl1	T	A	2: 118,899,484 (GRCm39)	I395K	probably benign	Het
Lactb2	A	T	1: 13,708,459 (GRCm39)	Y196*	probably null	Het
Lad1	T	C	1: 135,759,630 (GRCm39)	S509P	possibly damaging	Het
Ltf	T	C	9: 110,860,090 (GRCm39)	F504L	possibly damaging	Het
Med4	A	T	14: 73,751,363 (GRCm39)	D104V	probably damaging	Het
Mrpl58	A	T	11: 115,301,073 (GRCm39)	N128Y	probably damaging	Het
Ndufs2	T	C	1: 171,068,668 (GRCm39)	T54A	probably benign	Het
Notch2	G	T	3: 98,007,705 (GRCm39)		probably null	Het
Ntng1	A	T	3: 109,690,169 (GRCm39)	N424K	possibly damaging	Het
Ntrk2	G	A	13: 59,009,113 (GRCm39)	W301*	probably null	Het
Or5b116	T	A	19: 13,423,131 (GRCm39)	S252T	probably benign	Het
Otud6b	A	G	4: 14,822,766 (GRCm39)	S113P	possibly damaging	Het
Pcdhb20	A	G	18: 37,638,608 (GRCm39)	N378S	probably damaging	Het
Polr3b	T	C	10: 84,473,975 (GRCm39)	S185P	possibly damaging	Het
Ptprn	G	A	1: 75,240,681 (GRCm39)	R31C	probably benign	Het
Rgsl1	C	T	1: 153,698,117 (GRCm39)	V478M	probably damaging	Het
Sema6b	A	T	17: 56,439,784 (GRCm39)	L19*	probably null	Het
Slfn8	A	G	11: 82,894,881 (GRCm39)		probably null	Het
Spen	A	T	4: 141,203,621 (GRCm39)	S1669T	unknown	Het
Syne2	T	C	12: 76,143,740 (GRCm39)	F1522L	probably damaging	Het
Tarbp1	C	T	8: 127,185,783 (GRCm39)	A470T	possibly damaging	Het
Tent4a	A	C	13: 69,658,785 (GRCm39)	M350R	possibly damaging	Het
Tiam1	C	A	16: 89,694,912 (GRCm39)	E182*	probably null	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Trip12	C	T	1: 84,771,591 (GRCm39)	A186T	probably damaging	Het
Ufc1	C	T	1: 171,116,529 (GRCm39)	A147T	probably damaging	Het
Vmn1r199	A	G	13: 22,567,777 (GRCm39)	K314R	possibly damaging	Het
Vmn2r13	A	T	5: 109,323,085 (GRCm39)	I68K	possibly damaging	Het
Vmn2r77	A	T	7: 86,460,767 (GRCm39)	I698F	probably damaging	Het
Vmn2r86	T	C	10: 130,282,795 (GRCm39)	K607R	probably damaging	Het
Vwa3b	T	C	1: 37,196,457 (GRCm39)	V28A	probably benign	Het
Wdr19	A	G	5: 65,373,236 (GRCm39)	N166S	possibly damaging	Het
Wfdc17	G	A	11: 83,595,634 (GRCm39)	G33R	probably damaging	Het
Zfp330	T	G	8: 83,491,545 (GRCm39)	K209N	probably benign	Het
Zfp493	A	G	13: 67,934,526 (GRCm39)	T160A	probably benign	Het
Zfp974	A	T	7: 27,610,940 (GRCm39)	C262S	possibly damaging	Het

Other mutations in Cops5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Cops5	APN	1	10,104,295 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GACCAGTGCCTGTACTCATG -3'
(R):5'- TTGCCAAGTAGCATCCACAG -3'

Sequencing Primer
(F):5'- GTGCCTGTACTCATGAACATATCAC -3'
(R):5'- GTAGCATCCACAGCTTAAGTAATAC -3'

Posted On

2018-05-24