Mutagenetix > Incidental Mutations

Incidental Mutation 'R6017:Copb1'

478642

Institutional Source

Beutler Lab

Gene Symbol

Copb1

Ensembl Gene

ENSMUSG00000030754

Gene Name

coatomer protein complex, subunit beta 1

Synonyms

Copb1, 2610019B04Rik

MMRRC Submission

044191-MU

Accession Numbers

Genbank: NM_033370; MGI: 1917599

Is this an essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R6017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114215559-114254711 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114236797 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 450 (K450E)

Ref Sequence

ENSEMBL: ENSMUSP00000033012 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033012]

Predicted Effect

probably benign
Transcript: ENSMUST00000033012
AA Change: K450E

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000033012
Gene: ENSMUSG00000030754
AA Change: K450E

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	19	539	2.4e-124	PFAM
low complexity region	643	660	N/A	INTRINSIC
Pfam:Coatamer_beta_C	667	807	3.6e-63	PFAM
Pfam:Coatomer_b_Cpla	813	944	3.1e-65	PFAM

Meta Mutation Damage Score

0.1825

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

97% (62/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	A	7: 118,809,921	V635D	probably damaging	Het
Adgb	T	C	10: 10,450,036	I56M	probably damaging	Het
Adgrv1	A	T	13: 81,397,423	L5581*	probably null	Het
Arpc2	C	A	1: 74,262,486	H193N	probably benign	Het
B3galt5	A	G	16: 96,315,184	T6A	probably benign	Het
Bod1l	A	T	5: 41,818,760	V1737E	probably benign	Het
Cacfd1	T	G	2: 27,013,428		probably benign	Het
Cdc42ep4	A	T	11: 113,729,366	D66E	probably benign	Het
Cldn1	G	T	16: 26,363,219	T80N	probably damaging	Het
Cmtm1	C	A	8: 104,310,951		probably benign	Het
Cntnap5c	A	T	17: 58,104,698	I526F	probably benign	Het
Crebrf	A	C	17: 26,757,849	I416L	probably benign	Het
Csmd3	C	A	15: 48,314,012	V377F	possibly damaging	Het
Cyp1a2	T	C	9: 57,681,030	K304E	probably damaging	Het
Cyp2d26	A	G	15: 82,790,573	S403P	possibly damaging	Het
Cyp4a12a	T	A	4: 115,326,279	C198*	probably null	Het
Ddx11	A	G	17: 66,130,017	D102G	probably benign	Het
Dpys	T	A	15: 39,846,718	Q105L	probably null	Het
Dsn1	C	A	2: 156,996,242	R334L	probably damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Epha8	G	T	4: 136,931,743	H867N	probably damaging	Het
Ephb3	T	C	16: 21,222,031	L643P	probably damaging	Het
Fbxo44	G	T	4: 148,158,553	H83Q	probably benign	Het
Gm13102	T	C	4: 144,109,237	Y477H	possibly damaging	Het
Gm7347	T	C	5: 26,057,278	T82A	probably benign	Het
Gss	C	A	2: 155,587,465	A36S	probably benign	Het
Hepacam	A	G	9: 37,380,760	D128G	probably benign	Het
Hepacam2	C	A	6: 3,483,332	V226F	probably damaging	Het
Hgfac	T	C	5: 35,044,395	Y291H	probably damaging	Het
Ip6k2	G	A	9: 108,797,267	R88H	probably benign	Het
Irx5	T	A	8: 92,358,250	Y23N	probably damaging	Het
Kcnf1	T	C	12: 17,175,081	M380V	probably damaging	Het
Kcnj1	A	T	9: 32,394,104		probably benign	Het
Kcnk12	T	C	17: 87,746,736	E166G	probably damaging	Het
Kctd16	T	C	18: 40,258,943	C195R	probably damaging	Het
Kif28	T	A	1: 179,699,453	I718F	probably benign	Het
Lce1e	T	A	3: 92,707,933	K36*	probably null	Het
Map4	T	C	9: 110,034,619	L304P	probably benign	Het
Mettl17	C	T	14: 51,891,617		probably benign	Het
Mpp4	T	C	1: 59,121,359	D595G	probably damaging	Het
Myo18a	A	G	11: 77,841,523	K1282E	probably damaging	Het
Nf2	A	T	11: 4,816,137	V131D	possibly damaging	Het
Olfr147	A	T	9: 38,403,620	M249L	probably benign	Het
Olfr855	T	C	9: 19,585,434	V299A	probably benign	Het
Oxsr1	A	G	9: 119,264,777	L270S	probably benign	Het
Plekhg2	G	A	7: 28,362,884	T536I	probably damaging	Het
Ppp1r9a	T	A	6: 4,906,363	V306D	probably benign	Het
Ptk6	C	T	2: 181,195,812	C438Y	probably benign	Het
Scfd1	T	C	12: 51,445,678	V590A	probably damaging	Het
Serpina1b	A	G	12: 103,729,272	S337P	probably damaging	Het
Skor2	T	A	18: 76,858,927	C115S	unknown	Het
Slc2a7	T	C	4: 150,165,172	S407P	probably damaging	Het
Slc8a1	A	G	17: 81,648,254	S452P	probably damaging	Het
Spata31d1c	A	G	13: 65,035,079	D145G	possibly damaging	Het
Spata6	C	A	4: 111,774,827	T145K	probably damaging	Het
Stab1	C	T	14: 31,141,544	R2087H	probably benign	Het
Stk24	C	T	14: 121,302,245	V180M	probably benign	Het
Trrap	A	G	5: 144,844,241	T3271A	probably damaging	Het
Tyro3	T	A	2: 119,816,666	W755R	probably damaging	Het
Ush2a	T	C	1: 188,957,514		probably null	Het
Uts2b	T	C	16: 27,361,043		probably null	Het
Vmn2r105	T	A	17: 20,208,627	H729L	probably damaging	Het
Wdfy3	T	C	5: 101,851,359	I3068V	probably benign	Het
Zfp457	G	A	13: 67,293,699	H175Y	probably damaging	Het
Zfp758	A	G	17: 22,373,731	D40G	probably damaging	Het

Other mutations in Copb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01802:Copb1	APN	7	114226776	missense	probably benign	0.00
IGL02458:Copb1	APN	7	114246785	missense	probably benign	0.00
IGL02549:Copb1	APN	7	114246797	missense	probably benign	0.00
IGL02639:Copb1	APN	7	114226595	splice site	probably benign
robbers	UTSW	7	114248976	missense	probably damaging	1.00
R0012:Copb1	UTSW	7	114237408	missense	probably damaging	0.99
R0012:Copb1	UTSW	7	114237408	missense	probably damaging	0.99
R0023:Copb1	UTSW	7	114250094	missense	probably benign	0.26
R0631:Copb1	UTSW	7	114233282	missense	probably benign	0.12
R1996:Copb1	UTSW	7	114232203	missense	probably benign	0.00
R2256:Copb1	UTSW	7	114253875	missense	possibly damaging	0.89
R2257:Copb1	UTSW	7	114253875	missense	possibly damaging	0.89
R3853:Copb1	UTSW	7	114223316	missense	probably damaging	1.00
R4679:Copb1	UTSW	7	114248976	missense	probably damaging	1.00
R4686:Copb1	UTSW	7	114221736	missense	possibly damaging	0.94
R5057:Copb1	UTSW	7	114226762	missense	probably benign
R5140:Copb1	UTSW	7	114246800	missense	probably benign	0.01
R5669:Copb1	UTSW	7	114237585	missense	probably damaging	1.00
R5779:Copb1	UTSW	7	114219572	missense	probably damaging	1.00
R6114:Copb1	UTSW	7	114246801	missense	probably benign	0.00
R6403:Copb1	UTSW	7	114238451	missense	probably damaging	1.00
R6826:Copb1	UTSW	7	114226719	missense	probably benign	0.00
R6905:Copb1	UTSW	7	114253890	missense	probably benign	0.00
R7241:Copb1	UTSW	7	114237356	missense	probably damaging	0.96
R7293:Copb1	UTSW	7	114219602	missense	probably damaging	1.00
R7485:Copb1	UTSW	7	114245485	missense	possibly damaging	0.94
R8103:Copb1	UTSW	7	114234967	missense	possibly damaging	0.67
R8427:Copb1	UTSW	7	114226754	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGGTCATCCTGTGATTCACAATG -3'
(R):5'- CTGGAAACTATATAACTGTTTGCCCC -3'

Sequencing Primer
(F):5'- TCATCCTGTGATTCACAATGTTTTAG -3'
(R):5'- AACTATATAACTGTTTGCCCCATTTC -3'

Posted On

2017-06-26