Mutagenetix > Incidental Mutation

Incidental Mutation 'R5945:Cops5'

460509

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

044137-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5945 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10094825-10108384 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to A at 10108235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027050] [ENSMUST00000071087] [ENSMUST00000117415] [ENSMUST00000118263] [ENSMUST00000119714] [ENSMUST00000122156] [ENSMUST00000188619] [ENSMUST00000186528] [ENSMUST00000191012] [ENSMUST00000155974]

AlphaFold

O35864

Predicted Effect

probably benign
Transcript: ENSMUST00000027050

SMART Domains

Protein: ENSMUSP00000027050
Gene: ENSMUSG00000025917

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: ENSMUST00000190610

Predicted Effect

unknown
Transcript: ENSMUST00000188619
AA Change: M1L

SMART Domains

Protein: ENSMUSP00000140115
Gene: ENSMUSG00000025917
AA Change: M1L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139578

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191360

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150509

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190063

Predicted Effect

probably benign
Transcript: ENSMUST00000186528

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: ENSMUST00000155974

SMART Domains

Protein: ENSMUSP00000117726
Gene: ENSMUSG00000056763

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190155

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (101/101)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,326,601 (GRCm39)		noncoding transcript	Het
Abca13	C	T	11: 9,243,398 (GRCm39)	H1754Y	probably benign	Het
Abi1	T	C	2: 22,929,977 (GRCm39)	E34G	probably damaging	Het
Apobec3	C	T	15: 79,782,047 (GRCm39)	T19I	probably damaging	Het
Arel1	C	A	12: 84,973,121 (GRCm39)	V559L	probably benign	Het
Arhgef10	T	C	8: 15,030,028 (GRCm39)		probably null	Het
Asb6	T	C	2: 30,718,215 (GRCm39)		probably benign	Het
Asxl2	T	C	12: 3,550,439 (GRCm39)	V727A	possibly damaging	Het
Atp13a5	C	A	16: 29,055,995 (GRCm39)	R1100L	probably benign	Het
Atp6v1a	A	G	16: 43,920,309 (GRCm39)	V429A	probably damaging	Het
Caml	A	G	13: 55,776,445 (GRCm39)	Y228C	probably damaging	Het
Ccdc14	A	G	16: 34,543,958 (GRCm39)	E772G	probably damaging	Het
Ccdc96	A	G	5: 36,643,194 (GRCm39)	E400G	probably damaging	Het
Ces1h	T	A	8: 94,090,254 (GRCm39)	E266V	probably benign	Het
Chd5	G	T	4: 152,464,408 (GRCm39)	Q1522H	probably benign	Het
CN725425	T	A	15: 91,129,980 (GRCm39)	I281N	possibly damaging	Het
Cngb3	A	T	4: 19,283,579 (GRCm39)	E62V	probably null	Het
Crhr2	T	A	6: 55,077,667 (GRCm39)	I232F	possibly damaging	Het
Cxcl3	C	T	5: 90,934,175 (GRCm39)		probably benign	Het
Ddx31	T	A	2: 28,749,902 (GRCm39)	I308N	probably damaging	Het
Efcab14	T	A	4: 115,613,664 (GRCm39)	V204D	probably damaging	Het
Emsy	T	C	7: 98,268,590 (GRCm39)	T484A	probably damaging	Het
Ep400	A	T	5: 110,830,732 (GRCm39)	I2257N	unknown	Het
Epb41l4a	T	A	18: 33,961,783 (GRCm39)	Q420L	possibly damaging	Het
Fat4	A	G	3: 39,037,355 (GRCm39)	D3669G	probably benign	Het
Fmnl2	C	A	2: 53,004,211 (GRCm39)	T607K	probably damaging	Het
Glod4	T	C	11: 76,125,297 (GRCm39)	Y135C	probably damaging	Het
Gm10912	A	G	2: 103,896,961 (GRCm39)	I33M	possibly damaging	Het
Gm5592	T	C	7: 40,865,036 (GRCm39)		probably benign	Het
Gria4	A	G	9: 4,456,122 (GRCm39)	L726P	probably damaging	Het
H2-M10.4	T	C	17: 36,771,518 (GRCm39)	E220G	probably benign	Het
Itga1	T	G	13: 115,103,126 (GRCm39)	N1102H	probably benign	Het
Itpk1	A	G	12: 102,554,812 (GRCm39)	I6T	probably damaging	Het
Kcnh4	T	C	11: 100,636,148 (GRCm39)	D833G	probably damaging	Het
Kdm1a	T	C	4: 136,296,012 (GRCm39)		probably null	Het
Kif24	G	A	4: 41,428,670 (GRCm39)	Q97*	probably null	Het
Klhl2	T	C	8: 65,202,762 (GRCm39)	I479V	probably benign	Het
Large1	T	C	8: 73,578,828 (GRCm39)	Y459C	probably damaging	Het
Lcn8	T	G	2: 25,545,509 (GRCm39)	L169R	probably damaging	Het
Loxl3	T	G	6: 83,014,492 (GRCm39)	S133R	probably damaging	Het
Lyzl4	A	G	9: 121,413,529 (GRCm39)	Y4H	unknown	Het
Marchf7	A	G	2: 60,071,331 (GRCm39)	K612E	probably damaging	Het
Mreg	C	T	1: 72,231,359 (GRCm39)	G33D	probably benign	Het
Ms4a6c	A	C	19: 11,457,863 (GRCm39)		probably benign	Het
Nrbf2	G	A	10: 67,103,299 (GRCm39)	S268F	possibly damaging	Het
Oog4	T	A	4: 143,164,293 (GRCm39)	I341F	probably benign	Het
Or4k5	A	G	14: 50,386,220 (GRCm39)	V37A	probably benign	Het
Or5h26	A	G	16: 58,988,482 (GRCm39)	L8P	probably benign	Het
Or5h27	C	T	16: 59,006,091 (GRCm39)	V252I	unknown	Het
Or5l14	A	T	2: 87,792,946 (GRCm39)	C97S	probably damaging	Het
Pcdhb5	G	A	18: 37,454,523 (GRCm39)	R301Q	probably benign	Het
Podn	T	C	4: 107,878,910 (GRCm39)	K174R	possibly damaging	Het
Pphln1	T	C	15: 93,353,413 (GRCm39)		probably null	Het
Ppp2r1a	C	G	17: 21,179,675 (GRCm39)	H112D	possibly damaging	Het
Prmt5	A	G	14: 54,752,344 (GRCm39)	F151L	possibly damaging	Het
Ptch1	A	T	13: 63,721,233 (GRCm39)		probably benign	Het
Rgl2	A	G	17: 34,151,012 (GRCm39)		probably null	Het
Ryr2	A	T	13: 11,675,008 (GRCm39)	I3373N	probably damaging	Het
Scap	A	G	9: 110,213,664 (GRCm39)	N1209S	probably benign	Het
Sin3b	T	C	8: 73,457,793 (GRCm39)	S170P	probably damaging	Het
Slc22a4	A	T	11: 53,886,854 (GRCm39)	I296N	probably damaging	Het
Slco1a8	T	A	6: 141,940,008 (GRCm39)	N145I	probably damaging	Het
Slco2a1	T	C	9: 102,923,989 (GRCm39)	S68P	probably damaging	Het
Snx8	A	G	5: 140,339,235 (GRCm39)	C161R	probably benign	Het
Spryd3	C	T	15: 102,026,630 (GRCm39)	C347Y	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Strn3	T	C	12: 51,676,279 (GRCm39)	T333A	probably benign	Het
Swt1	T	A	1: 151,286,921 (GRCm39)	E190D	probably benign	Het
Tchh	A	T	3: 93,352,644 (GRCm39)	I695F	unknown	Het
Tfap4	G	A	16: 4,363,493 (GRCm39)	S314L	possibly damaging	Het
Tigd3	G	T	19: 5,941,894 (GRCm39)	T412K	probably benign	Het
Tmem184b	T	A	15: 79,249,681 (GRCm39)		probably null	Het
Trpa1	T	C	1: 14,968,359 (GRCm39)	D469G	probably benign	Het
Tssk1	T	C	16: 17,712,565 (GRCm39)	F117L	probably damaging	Het
Tuba3b	T	A	6: 145,565,471 (GRCm39)	M313K	probably damaging	Het
Tubgcp6	T	C	15: 88,993,420 (GRCm39)		probably null	Het
Vav1	A	G	17: 57,608,870 (GRCm39)	K345E	possibly damaging	Het
Zdhhc4	G	A	5: 143,310,641 (GRCm39)	R64C	probably damaging	Het
Zfp280d	T	A	9: 72,269,614 (GRCm39)	L892*	probably null	Het
Zfp46	T	A	4: 136,014,528 (GRCm39)	M3K	probably damaging	Het
Zfp607b	C	A	7: 27,401,841 (GRCm39)	P99Q	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp990	T	A	4: 145,264,613 (GRCm39)	I537N	probably 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
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

Predicted Primers

PCR Primer
(F):5'- TGTCGCTCCACAATCAAGATG -3'
(R):5'- AATATGGTGGCATCTGAGTCTG -3'

Sequencing Primer
(F):5'- CAAGATGCAACTTTCTTCTACTGGG -3'
(R):5'- ATCTGAGTCTGCGCAGTACG -3'

Posted On

2017-02-28