Mutagenetix > Incidental Mutation

Incidental Mutation 'R5789:Cops3'

448224

Institutional Source

Beutler Lab

Gene Symbol

Cops3

Ensembl Gene

ENSMUSG00000019373

Gene Name

COP9 signalosome subunit 3

Synonyms

COP9 complex S3, Csn3, Sgn3

MMRRC Submission

043383-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5789 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59708621-59730664 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 59721106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

O88543

Predicted Effect

probably benign
Transcript: ENSMUST00000019517

SMART Domains

Protein: ENSMUSP00000019517
Gene: ENSMUSG00000019373

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: ENSMUST00000136901

Predicted Effect

probably benign
Transcript: ENSMUST00000141415

Predicted Effect

probably benign
Transcript: ENSMUST00000156837

SMART Domains

Protein: ENSMUSP00000117288
Gene: ENSMUSG00000019373

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

97% (61/63)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,076,108 (GRCm39)	F1200S	probably damaging	Het
Ahnak	A	T	19: 8,979,685 (GRCm39)	D323V	probably benign	Het
Aloxe3	T	C	11: 69,017,265 (GRCm39)	Y13H	probably damaging	Het
Aqp1	A	G	6: 55,313,746 (GRCm39)	I91V	probably benign	Het
C9orf72	T	A	4: 35,226,112 (GRCm39)		probably benign	Het
Carmil1	A	G	13: 24,305,831 (GRCm39)	S318P	probably damaging	Het
Cdan1	A	G	2: 120,560,016 (GRCm39)	F383L	probably benign	Het
Ciao3	T	C	17: 26,000,177 (GRCm39)	C303R	probably benign	Het
Col6a2	T	A	10: 76,440,223 (GRCm39)	E606V	probably damaging	Het
Col6a5	T	C	9: 105,741,807 (GRCm39)	T2371A	possibly damaging	Het
Coq7	G	T	7: 118,128,929 (GRCm39)	H35Q	possibly damaging	Het
Cp	T	A	3: 20,011,454 (GRCm39)	F3I	probably benign	Het
D630003M21Rik	C	T	2: 158,058,734 (GRCm39)	E389K	possibly damaging	Het
Dclre1c	A	T	2: 3,438,993 (GRCm39)	Q51L	probably damaging	Het
Dhx37	A	C	5: 125,498,103 (GRCm39)	I702S	possibly damaging	Het
Dnah3	G	T	7: 119,542,822 (GRCm39)	A3530D	possibly damaging	Het
Dnajc13	T	C	9: 104,091,387 (GRCm39)	R635G	probably damaging	Het
Dnhd1	A	G	7: 105,354,217 (GRCm39)	S3066G	possibly damaging	Het
Doc2b	T	A	11: 75,676,941 (GRCm39)	H144L	probably damaging	Het
Eif2b3	T	A	4: 116,885,692 (GRCm39)	I78N	probably damaging	Het
Enpp1	A	T	10: 24,523,137 (GRCm39)	H767Q	probably benign	Het
Fam180a	C	A	6: 35,290,461 (GRCm39)	*174L	probably null	Het
Gabra1	A	T	11: 42,073,742 (GRCm39)		probably benign	Het
Gfral	C	T	9: 76,104,328 (GRCm39)	R228Q	probably benign	Het
Gm16551	T	A	9: 74,756,535 (GRCm39)		noncoding transcript	Het
Ifi213	C	A	1: 173,396,360 (GRCm39)		probably benign	Het
Inpp4a	T	C	1: 37,411,410 (GRCm39)	V358A	possibly damaging	Het
Kmt2a	T	C	9: 44,731,201 (GRCm39)		probably benign	Het
Mrgprb13	A	T	7: 47,961,946 (GRCm39)		noncoding transcript	Het
Mtrex	A	T	13: 113,027,819 (GRCm39)	N680K	probably benign	Het
Nckap5	A	G	1: 125,955,439 (GRCm39)	F371S	probably damaging	Het
Nudcd1	G	A	15: 44,251,879 (GRCm39)	Q428*	probably null	Het
Pcdhgc5	C	A	18: 37,954,559 (GRCm39)	P611Q	probably damaging	Het
Plekhb1	A	T	7: 100,294,793 (GRCm39)	Y193*	probably null	Het
Prrt1	T	C	17: 34,850,931 (GRCm39)		probably null	Het
Ptpn12	G	A	5: 21,194,013 (GRCm39)	T753I	possibly damaging	Het
Samsn1	T	C	16: 75,673,336 (GRCm39)	D180G	probably damaging	Het
Sh2d2a	T	A	3: 87,756,820 (GRCm39)		probably benign	Het
Slc12a2	T	A	18: 58,045,091 (GRCm39)		probably null	Het
Socs3	T	A	11: 117,858,608 (GRCm39)	Q150L	probably benign	Het
Supt6	A	G	11: 78,124,412 (GRCm39)	V23A	unknown	Het
Tcf12	T	C	9: 71,792,518 (GRCm39)	Y119C	probably damaging	Het
Them5	A	G	3: 94,253,908 (GRCm39)	E210G	probably damaging	Het
Tmem135	A	G	7: 88,845,330 (GRCm39)	F167S	possibly damaging	Het
Tmem170	A	G	8: 112,593,032 (GRCm39)	V134A	possibly damaging	Het
Trbv20	A	G	6: 41,165,725 (GRCm39)	Y50C	probably damaging	Het
Uroc1	A	G	6: 90,321,179 (GRCm39)	M252V	probably damaging	Het
Wasf1	G	A	10: 40,802,570 (GRCm39)	R75Q	probably damaging	Het
Xpnpep3	T	A	15: 81,300,065 (GRCm39)		probably benign	Het
Yars1	C	T	4: 129,090,690 (GRCm39)	T78M	probably damaging	Het
Zdhhc16	T	A	19: 41,926,572 (GRCm39)	H98Q	probably damaging	Het
Zfp90	T	C	8: 107,150,605 (GRCm39)	L106P	probably benign	Het
Zscan22	T	G	7: 12,637,853 (GRCm39)	S82A	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
IGL03271:Cops3	APN	11	59,723,889 (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
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

Predicted Primers

PCR Primer
(F):5'- CAGGAACAGCCTCACATCTCTG -3'
(R):5'- GCAATACGGTTTATTAGTGATAGCC -3'

Sequencing Primer
(F):5'- TGAGCATGTGAATCCCATACCTGG -3'
(R):5'- GTGACTGAGTAGACACAGAC -3'

Posted On

2016-12-15