Mutagenetix > Incidental Mutation

Incidental Mutation 'R1393:Copz1'

162715

Institutional Source

Beutler Lab

Gene Symbol

Copz1

Ensembl Gene

ENSMUSG00000060992

Gene Name

coatomer protein complex, subunit zeta 1

Synonyms

5930435A22Rik, nonclathrin coat protein zeta1-COP, D4Ertd360e

MMRRC Submission

039455-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R1393 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103181261-103208295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103203171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 95 (N95S)

Ref Sequence

ENSEMBL: ENSMUSP00000097738 (fasta)

Gene Model

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

AlphaFold

P61924

Predicted Effect

probably benign
Transcript: ENSMUST00000100162
AA Change: N95S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000097738
Gene: ENSMUSG00000060992
AA Change: N95S

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: N95S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.7%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	A	G	16: 20,379,180 (GRCm39)	N682S	probably benign	Het
Acta2	G	A	19: 34,219,192 (GRCm39)	R337C	probably damaging	Het
Anxa5	G	A	3: 36,507,658 (GRCm39)	T194I	probably damaging	Het
Atf1	A	G	15: 100,130,647 (GRCm39)	T6A	possibly damaging	Het
Atg4d	T	A	9: 21,182,129 (GRCm39)	Y317N	probably damaging	Het
Bcl6	A	G	16: 23,796,316 (GRCm39)	V37A	probably damaging	Het
Bsn	T	C	9: 107,987,716 (GRCm39)		probably benign	Het
Cd300ld2	G	A	11: 114,903,404 (GRCm39)		probably benign	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Chad	A	T	11: 94,456,140 (GRCm39)	M73L	probably benign	Het
Cwf19l2	T	C	9: 3,456,818 (GRCm39)	V717A	probably benign	Het
Dock3	C	T	9: 106,788,548 (GRCm39)	G140R	probably damaging	Het
Gm14226	A	T	2: 154,866,111 (GRCm39)	S23C	probably damaging	Het
Gria2	T	C	3: 80,614,405 (GRCm39)	E545G	probably damaging	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Or6c215	A	G	10: 129,637,801 (GRCm39)	F198L	probably benign	Het
Patj	G	A	4: 98,312,648 (GRCm39)	V329I	probably benign	Het
Ptcd3	T	A	6: 71,866,605 (GRCm39)	T404S	probably benign	Het
Rasa1	A	G	13: 85,371,641 (GRCm39)	C867R	probably damaging	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Rsad2	T	C	12: 26,506,376 (GRCm39)	S15G	probably damaging	Het
Serpina12	T	C	12: 104,004,009 (GRCm39)	I208V	possibly damaging	Het
Spock1	A	T	13: 58,055,268 (GRCm39)	L45Q	probably damaging	Het
Stat3	A	T	11: 100,779,591 (GRCm39)		probably null	Het
Zfp810	T	C	9: 22,191,810 (GRCm39)	D90G	probably benign	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
IGL03013:Copz1	APN	15	103,204,995 (GRCm39)	missense	probably benign	0.41
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
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

Predicted Primers

PCR Primer
(F):5'- TGAGAAGCCAGAGTCCTTCTGCTG -3'
(R):5'- GCATCTGATATGCTCTGCTCCCAAC -3'

Sequencing Primer
(F):5'- CAGAGTCCTTCTGCTGTTGTG -3'
(R):5'- ttctttctttcttttttttttCCCCC -3'

Posted On

2014-03-17