Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03013:Copz1'

407835

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Copz1

Ensembl Gene

ENSMUSG00000060992

Gene Name

coatomer protein complex, subunit zeta 1

Synonyms

5930435A22Rik, nonclathrin coat protein zeta1-COP, D4Ertd360e

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

IGL03013

Quality Score

Status

Chromosome

Chromosomal Location

103181261-103208295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103204995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 118 (M118K)

Ref Sequence

ENSEMBL: ENSMUSP00000155674 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100162] [ENSMUST00000229549] [ENSMUST00000230893]

AlphaFold

P61924

Predicted Effect

probably benign
Transcript: ENSMUST00000100162
AA Change: M118K

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097738
Gene: ENSMUSG00000060992
AA Change: M118K

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	12	153	2.7e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229549

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230417

Predicted Effect

probably benign
Transcript: ENSMUST00000230893
AA Change: M118K

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231068

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the cytoplasmic coatamer protein complex, which is involved in autophagy and intracellular protein trafficking. The coatomer protein complex is comprised of seven subunits and functions as the coat protein of coat protein complex (COP)I-vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
B3galt6	G	A	4: 156,076,215 (GRCm39)	Q287*	probably null	Het
C2	A	G	17: 35,091,435 (GRCm39)	V353A	probably damaging	Het
Cntnap2	A	T	6: 47,072,483 (GRCm39)	Y1017F	possibly damaging	Het
Dnm1	T	C	2: 32,226,296 (GRCm39)	N298D	probably benign	Het
Exog	T	C	9: 119,291,679 (GRCm39)	S295P	possibly damaging	Het
Ext2	A	T	2: 93,537,571 (GRCm39)		probably benign	Het
Garin5b	A	G	7: 4,761,632 (GRCm39)	L360S	probably benign	Het
Gpatch8	T	C	11: 102,399,023 (GRCm39)	I70V	unknown	Het
Krt5	T	A	15: 101,620,103 (GRCm39)	I205L	probably benign	Het
Leng9	A	G	7: 4,151,737 (GRCm39)	V313A	probably damaging	Het
Macrod2	A	G	2: 141,357,147 (GRCm39)	I148V	probably benign	Het
Mapk14	G	T	17: 28,947,323 (GRCm39)		probably benign	Het
Mfsd4b3-ps	A	T	10: 39,823,891 (GRCm39)	M123K	probably benign	Het
Mmp8	A	G	9: 7,561,690 (GRCm39)	D205G	probably benign	Het
Muc5b	A	T	7: 141,417,665 (GRCm39)	H3537L	possibly damaging	Het
Nde1	C	T	16: 14,009,611 (GRCm39)	P324L	probably benign	Het
Nlrp9b	A	T	7: 19,782,750 (GRCm39)	H888L	probably damaging	Het
Npy2r	A	G	3: 82,447,819 (GRCm39)	F319L	probably damaging	Het
Nup210	A	G	6: 91,030,361 (GRCm39)	V156A	probably benign	Het
Nxph2	T	C	2: 23,289,945 (GRCm39)	I99T	probably benign	Het
Parpbp	A	G	10: 87,975,840 (GRCm39)	I91T	probably damaging	Het
Pld2	A	G	11: 70,432,003 (GRCm39)	Y75C	probably damaging	Het
Pramel12	A	G	4: 143,144,037 (GRCm39)	T128A	possibly damaging	Het
Pramel33	A	T	5: 93,630,391 (GRCm39)	S394T	probably damaging	Het
Prkcb	C	A	7: 122,226,905 (GRCm39)	D630E	probably damaging	Het
Prl3c1	T	C	13: 27,383,349 (GRCm39)	V5A	probably benign	Het
Ro60	A	G	1: 143,646,446 (GRCm39)	S100P	probably damaging	Het
Sdcbp2	A	G	2: 151,429,255 (GRCm39)	T192A	probably benign	Het
Sema6a	C	T	18: 47,381,461 (GRCm39)	A1046T	probably benign	Het
Serpinb3a	A	G	1: 106,973,813 (GRCm39)	F366S	probably damaging	Het
Serpinb9d	T	A	13: 33,380,521 (GRCm39)	W136R	probably damaging	Het
Smc2	G	T	4: 52,442,280 (GRCm39)	V66F	probably damaging	Het
Speg	A	G	1: 75,407,923 (GRCm39)	D3206G	probably damaging	Het
Syne2	C	T	12: 75,976,111 (GRCm39)	A1187V	probably benign	Het
Unc5cl	G	A	17: 48,772,049 (GRCm39)	M442I	possibly damaging	Het

Other mutations in Copz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Copz1	APN	15	103,207,176 (GRCm39)	utr 3 prime	probably benign
IGL01732:Copz1	APN	15	103,206,318 (GRCm39)	missense	probably benign	0.18
R0539:Copz1	UTSW	15	103,199,792 (GRCm39)	missense	probably damaging	1.00
R0684:Copz1	UTSW	15	103,204,958 (GRCm39)	critical splice acceptor site	probably null
R1393:Copz1	UTSW	15	103,203,171 (GRCm39)	missense	probably benign	0.01
R4928:Copz1	UTSW	15	103,199,757 (GRCm39)	missense	probably damaging	0.96
R5935:Copz1	UTSW	15	103,203,197 (GRCm39)	missense	probably benign
R7493:Copz1	UTSW	15	103,204,971 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02