Mutagenetix > Incidental Mutation

Incidental Mutation 'R8803:Cops3'

671641

Institutional Source

Beutler Lab

Gene Symbol

Cops3

Ensembl Gene

ENSMUSG00000019373

Gene Name

COP9 signalosome subunit 3

Synonyms

COP9 complex S3, Csn3, Sgn3

MMRRC Submission

068640-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8803 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59708621-59730664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59718802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 164 (V164A)

Ref Sequence

ENSEMBL: ENSMUSP00000019517 (fasta)

Gene Model

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

AlphaFold

O88543

Predicted Effect

probably benign
Transcript: ENSMUST00000019517
AA Change: V164A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000019517
Gene: ENSMUSG00000019373
AA Change: V164A

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000117288
Gene: ENSMUSG00000019373
AA Change: V86A

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

Meta Mutation Damage Score

0.0691

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (68/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	A	8: 60,998,290 (GRCm39)	S431T	probably benign	Het
Acot7	T	G	4: 152,302,272 (GRCm39)	V128G	probably damaging	Het
Actn3	T	C	19: 4,914,691 (GRCm39)	D508G	probably benign	Het
Adam18	T	C	8: 25,137,878 (GRCm39)	I321V	probably benign	Het
Ak1	T	C	2: 32,523,490 (GRCm39)	V186A	probably benign	Het
Aldh3a2	A	G	11: 61,139,756 (GRCm39)	F459L	probably benign	Het
Atp11a	T	C	8: 12,875,721 (GRCm39)	L256P	probably benign	Het
Bcan	T	C	3: 87,903,999 (GRCm39)	E162G	probably benign	Het
Birc6	A	G	17: 74,959,033 (GRCm39)	Q3850R	probably damaging	Het
Btf3l4	T	G	4: 108,689,084 (GRCm39)		probably benign	Het
Btla	A	G	16: 45,059,430 (GRCm39)	T45A	probably benign	Het
Cad	T	G	5: 31,226,908 (GRCm39)	S1222A	probably damaging	Het
Cbarp	A	G	10: 79,972,976 (GRCm39)	V39A	possibly damaging	Het
Cct2	A	C	10: 116,894,090 (GRCm39)	D221E	probably benign	Het
Cmya5	T	C	13: 93,177,991 (GRCm39)	D3621G	probably damaging	Het
Col20a1	G	T	2: 180,643,131 (GRCm39)	R867L	possibly damaging	Het
Crygf	A	G	1: 65,967,148 (GRCm39)	R91G	probably damaging	Het
Csmd2	T	A	4: 128,440,477 (GRCm39)	S3181T		Het
Cyb5r1	G	T	1: 134,333,696 (GRCm39)		probably benign	Het
Dennd6b	T	A	15: 89,070,383 (GRCm39)	I429F	probably benign	Het
Dock1	A	G	7: 134,475,816 (GRCm39)	T864A	probably benign	Het
Eea1	A	T	10: 95,859,853 (GRCm39)	D713V	probably benign	Het
Fam78b	G	A	1: 166,829,160 (GRCm39)	C9Y	probably damaging	Het
Gga2	A	C	7: 121,597,002 (GRCm39)	D371E	probably benign	Het
Gtpbp6	A	T	5: 110,255,186 (GRCm39)	V2E	unknown	Het
Hectd4	A	T	5: 121,461,994 (GRCm39)	M954L	probably benign	Het
Hmcn1	A	G	1: 150,610,248 (GRCm39)	C1474R	probably damaging	Het
Igkv1-99	G	T	6: 68,519,370 (GRCm39)	G109V		Het
Izumo3	T	C	4: 92,033,310 (GRCm39)		probably null	Het
Kremen1	T	C	11: 5,144,981 (GRCm39)	D465G	probably benign	Het
Ksr1	T	C	11: 79,036,882 (GRCm39)	E75G	probably benign	Het
Mmp17	G	T	5: 129,675,773 (GRCm39)	E311*	probably null	Het
Mmrn1	T	A	6: 60,965,271 (GRCm39)	F1101I	probably damaging	Het
Muc13	G	A	16: 33,633,287 (GRCm39)		probably benign	Het
Myl4	T	A	11: 104,475,403 (GRCm39)	M147K	probably damaging	Het
Myo1a	T	A	10: 127,546,856 (GRCm39)	N334K	probably benign	Het
Myo3b	T	C	2: 70,083,338 (GRCm39)	S664P	probably benign	Het
Nptxr	T	C	15: 79,678,655 (GRCm39)	N211D	probably damaging	Het
Ntf5	A	G	7: 45,065,485 (GRCm39)	T206A	probably benign	Het
Obscn	T	A	11: 58,945,229 (GRCm39)	E4596D	probably benign	Het
Or4d10c	T	C	19: 12,065,469 (GRCm39)	E229G	probably benign	Het
Or4f14d	T	C	2: 111,960,427 (GRCm39)	H243R	probably damaging	Het
Or5ak20	T	A	2: 85,184,078 (GRCm39)	Q64L	probably damaging	Het
Or5ak25	T	A	2: 85,268,981 (GRCm39)	I174F	probably damaging	Het
Or5b3	A	T	19: 13,388,037 (GRCm39)	I35F	probably damaging	Het
Or7e169	A	T	9: 19,757,462 (GRCm39)	I151N	possibly damaging	Het
Paip2	A	G	18: 35,749,273 (GRCm39)	N114D	possibly damaging	Het
Pcnx1	T	C	12: 82,039,925 (GRCm39)	S2071P	possibly damaging	Het
Pcsk2	A	G	2: 143,637,870 (GRCm39)	T369A	probably damaging	Het
Ppp1r12b	A	C	1: 134,818,492 (GRCm39)		probably benign	Het
Ppp1r35	T	A	5: 137,777,731 (GRCm39)	D132E	possibly damaging	Het
Pramel7	A	T	2: 87,320,405 (GRCm39)	V296E	probably benign	Het
Prh1	C	T	6: 132,548,948 (GRCm39)	P152S	unknown	Het
Pygl	T	C	12: 70,242,390 (GRCm39)	T689A	probably damaging	Het
Rasgef1b	T	C	5: 99,369,269 (GRCm39)	S450G	probably benign	Het
Rtn4ip1	G	T	10: 43,783,842 (GRCm39)	R121L	probably damaging	Het
Scarf2	A	T	16: 17,620,695 (GRCm39)	H121L	probably damaging	Het
Selenbp1	C	A	3: 94,851,821 (GRCm39)	A454E	possibly damaging	Het
Slc7a9	A	G	7: 35,163,143 (GRCm39)	I449M	possibly damaging	Het
Snapc2	C	T	8: 4,305,558 (GRCm39)	H278Y	probably damaging	Het
Stambp	C	T	6: 83,524,212 (GRCm39)		probably null	Het
Syne1	T	C	10: 5,311,535 (GRCm39)	Y550C	probably damaging	Het
Tas2r113	T	C	6: 132,870,104 (GRCm39)	V44A	possibly damaging	Het
Trpv4	T	C	5: 114,772,816 (GRCm39)	T305A	probably benign	Het
Twf1	T	C	15: 94,479,136 (GRCm39)	Y241C	probably damaging	Het
Ugt2a3	T	C	5: 87,484,389 (GRCm39)	K212E	probably damaging	Het
Ush2a	A	T	1: 188,676,998 (GRCm39)	H4770L	probably benign	Het
Zfc3h1	T	C	10: 115,247,800 (GRCm39)	V1001A	probably benign	Het
Zfp335	C	T	2: 164,751,290 (GRCm39)	R92Q	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
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

Predicted Primers

PCR Primer
(F):5'- TAACACTCGCTGACTGTTTGG -3'
(R):5'- TAACCCTAGATGGCTAAGAAAATGG -3'

Sequencing Primer
(F):5'- CGCTGACTGTTTGGATCACACAAG -3'
(R):5'- TCATCTGTGAAACAAAACAG -3'

Posted On

2021-04-30