Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02657:Cops3'

302392

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 #

IGL02657

Quality Score

Status

Chromosome

Chromosomal Location

59708621-59730664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59721043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 124 (L124H)

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: L124H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000019517
Gene: ENSMUSG00000019373
AA Change: L124H

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	G	A	11: 117,725,648 (GRCm39)	V120M	possibly damaging	Het
Aldh1l1	T	C	6: 90,567,776 (GRCm39)	L680P	probably damaging	Het
Alox12	A	T	11: 70,138,104 (GRCm39)	D410E	probably benign	Het
Amt	T	A	9: 108,178,579 (GRCm39)	V365E	probably damaging	Het
Ano9	A	G	7: 140,687,353 (GRCm39)	S321P	probably damaging	Het
Atp2c2	A	T	8: 120,479,771 (GRCm39)	I767F	probably damaging	Het
Bag1	A	T	4: 40,936,643 (GRCm39)	Y338N	probably benign	Het
Bcr	T	A	10: 74,990,796 (GRCm39)	D767E	probably benign	Het
Chfr	A	T	5: 110,302,705 (GRCm39)	Q350L	probably damaging	Het
Ddx60	T	C	8: 62,437,149 (GRCm39)	Y988H	probably benign	Het
Dnajc2	A	T	5: 21,975,479 (GRCm39)		probably benign	Het
Dym	C	T	18: 75,215,527 (GRCm39)	Q238*	probably null	Het
Fbn1	A	T	2: 125,193,945 (GRCm39)	C1341S	possibly damaging	Het
Fryl	G	T	5: 73,212,203 (GRCm39)	N2308K	probably benign	Het
Gbp2b	G	T	3: 142,309,873 (GRCm39)	R221L	probably damaging	Het
Gpat2	A	G	2: 127,269,251 (GRCm39)	N8S	probably benign	Het
Gvin2	T	C	7: 105,545,972 (GRCm39)	K2360R	probably damaging	Het
Hycc2	A	T	1: 58,574,561 (GRCm39)	W327R	probably damaging	Het
Ift52	A	G	2: 162,887,135 (GRCm39)	D379G	probably damaging	Het
Inhbe	C	A	10: 127,186,645 (GRCm39)	L178F	probably damaging	Het
Ipo5	T	C	14: 121,181,212 (GRCm39)	Y913H	possibly damaging	Het
Kif21b	T	A	1: 136,099,968 (GRCm39)	D1507E	possibly damaging	Het
Lnx2	A	G	5: 146,964,984 (GRCm39)	V413A	probably damaging	Het
Lrrc40	C	A	3: 157,742,410 (GRCm39)	F16L	probably damaging	Het
Magi2	A	G	5: 19,432,581 (GRCm39)	K99E	probably damaging	Het
Me3	A	G	7: 89,495,461 (GRCm39)	I357M	probably benign	Het
Med30	A	G	15: 52,582,761 (GRCm39)	Y66C	probably benign	Het
Mief2	A	T	11: 60,621,783 (GRCm39)	S118C	probably damaging	Het
Mylip	A	G	13: 45,544,722 (GRCm39)	S49G	probably benign	Het
Ncoa7	T	A	10: 30,528,972 (GRCm39)	D107V	probably damaging	Het
Nvl	C	A	1: 180,934,541 (GRCm39)	V655F	probably damaging	Het
Olfml2b	C	T	1: 170,508,645 (GRCm39)	T501I	probably benign	Het
Ormdl2	T	C	10: 128,656,186 (GRCm39)	I40V	probably benign	Het
Pde6b	G	T	5: 108,568,142 (GRCm39)		probably benign	Het
Ralgapa1	A	C	12: 55,720,292 (GRCm39)	L1785W	probably damaging	Het
Rnf112	A	T	11: 61,341,078 (GRCm39)		probably null	Het
Sema3c	A	T	5: 17,781,866 (GRCm39)	M1L	possibly damaging	Het
Sema3c	T	A	5: 17,867,972 (GRCm39)	Y128N	probably damaging	Het
Sema4b	G	A	7: 79,866,789 (GRCm39)	G255D	probably damaging	Het
Setd1a	C	T	7: 127,394,997 (GRCm39)		probably benign	Het
Sirpb1a	A	C	3: 15,482,111 (GRCm39)	S72R	possibly damaging	Het
Slu7	T	A	11: 43,332,849 (GRCm39)		probably null	Het
Spata19	T	C	9: 27,309,276 (GRCm39)	V59A	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Suclg1	T	A	6: 73,237,504 (GRCm39)	V83E	probably damaging	Het
Syncrip	G	T	9: 88,338,457 (GRCm39)	R536S	probably benign	Het
Tap2	T	C	17: 34,424,432 (GRCm39)	V55A	probably damaging	Het
Tekt4	T	C	17: 25,692,732 (GRCm39)	I186T	possibly damaging	Het
Trpc6	C	A	9: 8,643,602 (GRCm39)	D462E	possibly damaging	Het
Ubqln3	T	G	7: 103,791,170 (GRCm39)	T307P	probably damaging	Het
Vmn1r64	A	T	7: 5,886,727 (GRCm39)	I272K	probably benign	Het
Xpr1	T	C	1: 155,166,026 (GRCm39)	T574A	probably benign	Het
Zfc3h1	A	G	10: 115,247,859 (GRCm39)	T1021A	possibly damaging	Het
Zfp512	A	T	5: 31,628,501 (GRCm39)	H159L	probably damaging	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
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
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

2015-04-16