Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03271:Cops3'

415240

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cops3

Ensembl Gene

ENSMUSG00000019373

Gene Name

COP9 signalosome subunit 3

Synonyms

COP9 complex S3, Csn3, Sgn3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03271

Quality Score

Status

Chromosome

Chromosomal Location

59708621-59730664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59723889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 89 (N89K)

Ref Sequence

ENSEMBL: ENSMUSP00000019517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019517] [ENSMUST00000141415]

AlphaFold

O88543

Predicted Effect

probably damaging
Transcript: ENSMUST00000019517
AA Change: N89K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000019517
Gene: ENSMUSG00000019373
AA Change: N89K

Domain	Start	End	E-Value	Type
PINT	293	383	1.16e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124101

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130027

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133652

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136901

Predicted Effect

probably benign
Transcript: ENSMUST00000141415

Predicted Effect

unknown
Transcript: ENSMUST00000156837
AA Change: N42K

SMART Domains

Protein: ENSMUSP00000117288
Gene: ENSMUSG00000019373
AA Change: N42K

Domain	Start	End	E-Value	Type
SCOP:d1ihga1	55	132	6e-4	SMART
Blast:PINT	216	244	4e-10	BLAST

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 possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality with defects in developmental patterning and failure of the inner cell mass to proliferate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	G	T	13: 111,392,408 (GRCm39)	V248L	probably benign	Het
Actl6b	T	A	5: 137,564,246 (GRCm39)	I256N	probably damaging	Het
Agl	G	T	3: 116,572,776 (GRCm39)	T825K	probably benign	Het
Arid5b	A	T	10: 67,933,287 (GRCm39)	S629T	possibly damaging	Het
Atp13a2	T	C	4: 140,727,708 (GRCm39)	I495T	possibly damaging	Het
Bcl6	G	T	16: 23,788,756 (GRCm39)	H537Q	probably benign	Het
Cdh12	A	G	15: 21,586,539 (GRCm39)	E786G	probably benign	Het
Cep290	T	A	10: 100,373,663 (GRCm39)	N1307K	probably benign	Het
Cyp4a29	T	C	4: 115,111,705 (GRCm39)	V494A	probably damaging	Het
Dlg1	A	G	16: 31,676,710 (GRCm39)	H675R	possibly damaging	Het
Dnajc6	T	A	4: 101,365,274 (GRCm39)		probably benign	Het
Dock10	C	A	1: 80,483,126 (GRCm39)	K2107N	probably damaging	Het
Dop1a	T	A	9: 86,386,275 (GRCm39)	L382*	probably null	Het
Faxc	A	C	4: 21,948,757 (GRCm39)	K156N	possibly damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gapvd1	C	A	2: 34,617,219 (GRCm39)		probably benign	Het
Gfm1	T	C	3: 67,382,076 (GRCm39)	Y717H	probably damaging	Het
Gm4884	A	T	7: 40,692,699 (GRCm39)	T223S	probably benign	Het
Gstm3	C	A	3: 107,873,513 (GRCm39)	V153F	possibly damaging	Het
H2-M10.5	G	T	17: 37,084,243 (GRCm39)	L68F	possibly damaging	Het
Hmcn1	G	T	1: 150,474,175 (GRCm39)	H4756N	possibly damaging	Het
Ift140	C	A	17: 25,306,880 (GRCm39)	R872S	probably damaging	Het
Lars2	T	A	9: 123,288,549 (GRCm39)		probably null	Het
Ltbp4	A	G	7: 27,029,240 (GRCm39)	V149A	unknown	Het
Mpp2	A	T	11: 101,954,249 (GRCm39)		probably benign	Het
Mybbp1a	A	G	11: 72,334,744 (GRCm39)		probably benign	Het
Nxpe4	C	A	9: 48,304,345 (GRCm39)	P144Q	probably damaging	Het
Or13p3	T	A	4: 118,566,982 (GRCm39)	I126N	probably damaging	Het
Or5p6	C	T	7: 107,630,714 (GRCm39)	V279M	probably damaging	Het
Parp4	C	A	14: 56,823,082 (GRCm39)	N67K	probably benign	Het
Pdk1	G	T	2: 71,710,374 (GRCm39)		probably benign	Het
Phip	A	T	9: 82,766,877 (GRCm39)		probably benign	Het
Pls1	A	G	9: 95,658,883 (GRCm39)	S202P	probably benign	Het
Pmpcb	A	G	5: 21,943,874 (GRCm39)	Y36C	probably benign	Het
Pole	T	C	5: 110,466,185 (GRCm39)	S1296P	probably benign	Het
Ptpn13	T	C	5: 103,610,014 (GRCm39)	S4P	probably damaging	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Sec61a2	A	T	2: 5,887,745 (GRCm39)	L79*	probably null	Het
Slc2a5	T	C	4: 150,220,040 (GRCm39)	L152P	probably damaging	Het
Smu1	C	T	4: 40,738,408 (GRCm39)	G442D	probably benign	Het
Spag16	T	A	1: 69,892,511 (GRCm39)	N97K	probably benign	Het
Spag6l	C	T	16: 16,598,592 (GRCm39)	D300N	probably damaging	Het
Sult3a1	A	G	10: 33,739,997 (GRCm39)	T19A	probably benign	Het
Ttll6	A	G	11: 96,047,513 (GRCm39)	H704R	probably benign	Het
Uba1	T	A	X: 20,541,956 (GRCm39)	D569E	probably damaging	Het
Umodl1	T	A	17: 31,205,473 (GRCm39)	Y689*	probably null	Het
Unc80	A	G	1: 66,734,762 (GRCm39)		probably benign	Het
Utp15	C	A	13: 98,390,202 (GRCm39)	V282F	probably damaging	Het
Vmn1r184	A	G	7: 25,967,034 (GRCm39)	Y260C	probably benign	Het
Vmn1r69	A	G	7: 10,314,596 (GRCm39)	V45A	probably benign	Het
Vmn2r4	C	A	3: 64,305,850 (GRCm39)	R524L	probably benign	Het

Other mutations in Cops3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01957:Cops3	APN	11	59,712,217 (GRCm39)	splice site	probably benign
IGL02622:Cops3	APN	11	59,723,864 (GRCm39)	missense	probably benign	0.26
IGL02657:Cops3	APN	11	59,721,043 (GRCm39)	missense	probably damaging	0.99
IGL03400:Cops3	APN	11	59,708,914 (GRCm39)	missense	probably benign	0.02
R0449:Cops3	UTSW	11	59,709,243 (GRCm39)	critical splice donor site	probably null
R0699:Cops3	UTSW	11	59,717,148 (GRCm39)	missense	probably damaging	1.00
R1485:Cops3	UTSW	11	59,718,715 (GRCm39)	missense	possibly damaging	0.85
R1894:Cops3	UTSW	11	59,710,844 (GRCm39)	missense	probably benign	0.00
R2077:Cops3	UTSW	11	59,715,136 (GRCm39)	missense	possibly damaging	0.95
R2265:Cops3	UTSW	11	59,718,716 (GRCm39)	missense	probably benign	0.06
R3790:Cops3	UTSW	11	59,718,797 (GRCm39)	missense	probably benign	0.00
R4540:Cops3	UTSW	11	59,720,980 (GRCm39)	missense	probably damaging	1.00
R4548:Cops3	UTSW	11	59,718,671 (GRCm39)	critical splice donor site	probably null
R4930:Cops3	UTSW	11	59,726,193 (GRCm39)	intron	probably benign
R5028:Cops3	UTSW	11	59,708,856 (GRCm39)	unclassified	probably benign
R5150:Cops3	UTSW	11	59,710,839 (GRCm39)	missense	probably damaging	0.99
R5319:Cops3	UTSW	11	59,718,762 (GRCm39)	missense	possibly damaging	0.78
R5436:Cops3	UTSW	11	59,715,171 (GRCm39)	missense	probably damaging	1.00
R5789:Cops3	UTSW	11	59,721,106 (GRCm39)	intron	probably benign
R6211:Cops3	UTSW	11	59,708,727 (GRCm39)	unclassified	probably benign
R6364:Cops3	UTSW	11	59,726,230 (GRCm39)	intron	probably benign
R6442:Cops3	UTSW	11	59,718,780 (GRCm39)	missense	probably benign	0.06
R6479:Cops3	UTSW	11	59,723,898 (GRCm39)	missense	probably benign	0.34
R6622:Cops3	UTSW	11	59,723,960 (GRCm39)	missense	probably damaging	0.99
R8698:Cops3	UTSW	11	59,708,886 (GRCm39)	missense	probably damaging	0.96
R8803:Cops3	UTSW	11	59,718,802 (GRCm39)	missense	probably benign

Posted On

2016-08-02