Mutagenetix > Incidental Mutation

Incidental Mutation 'R4679:Copb1'

386431

Institutional Source

Beutler Lab

Gene Symbol

Copb1

Ensembl Gene

ENSMUSG00000030754

Gene Name

coatomer protein complex, subunit beta 1

Synonyms

2610019B04Rik, Copb1

MMRRC Submission

041932-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R4679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113814794-113853915 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113848211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 108 (D108G)

Ref Sequence

ENSEMBL: ENSMUSP00000033012 (fasta)

Gene Model

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

AlphaFold

Q9JIF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000033012
AA Change: D108G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033012
Gene: ENSMUSG00000030754
AA Change: D108G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211417

Meta Mutation Damage Score

0.9727

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (112/114)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	T	A	1: 130,670,140 (GRCm39)	S121T	possibly damaging	Het
Abcb9	A	G	5: 124,216,867 (GRCm39)	V450A	probably benign	Het
Abcg1	A	T	17: 31,333,235 (GRCm39)	R659S	probably benign	Het
Acad9	A	T	3: 36,142,989 (GRCm39)	N508I	possibly damaging	Het
Acrbp	T	A	6: 125,037,881 (GRCm39)	C393S	probably damaging	Het
Adcy7	T	C	8: 89,044,565 (GRCm39)	V486A	probably benign	Het
Adgrf1	G	T	17: 43,621,384 (GRCm39)	L540F	probably damaging	Het
Ap5m1	T	C	14: 49,316,285 (GRCm39)	I285T	probably benign	Het
Arhgap27	G	T	11: 103,251,775 (GRCm39)		probably benign	Het
Armc5	A	T	7: 127,839,276 (GRCm39)	E198V	possibly damaging	Het
Atp8b5	A	T	4: 43,365,955 (GRCm39)	K742M	probably benign	Het
Atp9a	T	G	2: 168,503,884 (GRCm39)	T603P	possibly damaging	Het
Bsn	A	G	9: 107,987,329 (GRCm39)	S2808P	unknown	Het
C9orf72	C	T	4: 35,226,033 (GRCm39)		probably benign	Het
Catsper4	T	C	4: 133,953,916 (GRCm39)	N81S	probably damaging	Het
Ccl17	C	G	8: 95,537,128 (GRCm39)	T10S	probably benign	Het
Cdc123	A	T	2: 5,849,703 (GRCm39)	V6D	probably damaging	Het
Cdca2	T	C	14: 67,952,415 (GRCm39)	K14E	possibly damaging	Het
Cdh3	C	A	8: 107,266,488 (GRCm39)	T302K	probably damaging	Het
Cdh9	A	G	15: 16,851,045 (GRCm39)	M605V	probably benign	Het
Cdk4	A	G	10: 126,900,780 (GRCm39)	E144G	possibly damaging	Het
Clasp1	C	T	1: 118,471,001 (GRCm39)	A879V	probably damaging	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Cntn5	T	C	9: 9,970,536 (GRCm39)	D518G	probably benign	Het
Cog1	C	T	11: 113,543,116 (GRCm39)	A208V	probably damaging	Het
Col4a2	T	A	8: 11,481,337 (GRCm39)	H836Q	possibly damaging	Het
Csmd3	A	T	15: 48,024,479 (GRCm39)	Y600*	probably null	Het
Cyb5r1	T	A	1: 134,335,571 (GRCm39)	H164Q	probably benign	Het
Dkc1	A	G	X: 74,144,598 (GRCm39)	I215V	probably benign	Het
Enpep	A	G	3: 129,097,362 (GRCm39)		probably null	Het
Fam110d	A	G	4: 133,978,747 (GRCm39)	S244P	probably damaging	Het
Fbln7	A	G	2: 128,736,806 (GRCm39)	Y311C	probably damaging	Het
Fign	A	C	2: 63,809,605 (GRCm39)	L555R	probably damaging	Het
Fkbp7	A	T	2: 76,502,032 (GRCm39)		probably benign	Het
Fmn2	T	C	1: 174,330,728 (GRCm39)	S373P	unknown	Het
Frmd4b	C	T	6: 97,272,627 (GRCm39)	D868N	possibly damaging	Het
Garin3	T	A	11: 46,295,640 (GRCm39)	M4K	possibly damaging	Het
Gfpt2	A	G	11: 49,714,564 (GRCm39)	N321S	probably benign	Het
Glmn	G	T	5: 107,708,941 (GRCm39)	T372K	probably damaging	Het
Gm26602	C	T	10: 79,746,808 (GRCm39)		probably benign	Het
Gm6797	A	G	X: 8,505,933 (GRCm39)		noncoding transcript	Het
Gpat3	T	A	5: 101,041,322 (GRCm39)	F383L	probably damaging	Het
H2-M11	C	T	17: 36,859,042 (GRCm39)	T194I	possibly damaging	Het
Hcn1	C	T	13: 117,793,551 (GRCm39)	H268Y	probably benign	Het
Hectd4	G	T	5: 121,463,314 (GRCm39)	C2345F	possibly damaging	Het
Htt	A	G	5: 34,977,424 (GRCm39)	D770G	probably benign	Het
Ints3	T	C	3: 90,315,817 (GRCm39)	T316A	possibly damaging	Het
Ipo9	A	G	1: 135,321,907 (GRCm39)	F608L	probably benign	Het
Irak1	A	C	X: 73,065,995 (GRCm39)		probably benign	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Lag3	T	A	6: 124,881,508 (GRCm39)	Q488L	possibly damaging	Het
Large2	A	T	2: 92,197,903 (GRCm39)	L266Q	probably benign	Het
Lrp3	T	G	7: 34,903,365 (GRCm39)	D327A	probably damaging	Het
Mamstr	C	A	7: 45,294,116 (GRCm39)		probably benign	Het
Mettl14	G	A	3: 123,163,063 (GRCm39)		probably benign	Het
Miga1	A	G	3: 152,028,112 (GRCm39)	V139A	probably damaging	Het
Mthfd2l	A	C	5: 91,096,770 (GRCm39)	R130S	probably benign	Het
Myo1b	A	G	1: 51,797,132 (GRCm39)	I970T	possibly damaging	Het
Nat10	C	A	2: 103,562,515 (GRCm39)	W607L	probably damaging	Het
Nop56	A	G	2: 130,120,193 (GRCm39)	T183A	probably benign	Het
Or10h1	A	G	17: 33,418,367 (GRCm39)	H115R	probably benign	Het
Or2d4	A	T	7: 106,544,152 (GRCm39)	S19T	probably benign	Het
Or4c10	A	G	2: 89,761,008 (GRCm39)	Y285C	possibly damaging	Het
Or4d1	T	A	11: 87,805,136 (GRCm39)	M199L	probably benign	Het
Or52j3	A	G	7: 102,836,309 (GRCm39)	Y167C	probably benign	Het
Or5ae2	T	A	7: 84,506,112 (GRCm39)	Y178*	probably null	Het
Pcdhb12	T	C	18: 37,570,002 (GRCm39)	F383L	probably damaging	Het
Pde4dip	C	A	3: 97,602,321 (GRCm39)	D2252Y	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Plscr2	T	G	9: 92,169,823 (GRCm39)	L91R	probably benign	Het
Plxnc1	T	A	10: 94,630,306 (GRCm39)	Y1531F	probably damaging	Het
Ptprq	A	T	10: 107,521,043 (GRCm39)	F710I	probably benign	Het
Rad51ap2	A	G	12: 11,506,552 (GRCm39)	E158G	probably damaging	Het
Rasip1	T	A	7: 45,277,247 (GRCm39)	H18Q	possibly damaging	Het
Rcsd1	T	A	1: 165,483,493 (GRCm39)	N166I	probably damaging	Het
Ripor1	T	A	8: 106,344,417 (GRCm39)	I517K	possibly damaging	Het
Ryr2	T	A	13: 11,839,255 (GRCm39)	H506L	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Septin14	T	C	5: 129,770,090 (GRCm39)	D202G	possibly damaging	Het
Siglec1	A	T	2: 130,915,331 (GRCm39)	L1420Q	possibly damaging	Het
Slc22a29	T	A	19: 8,138,948 (GRCm39)	I505F	possibly damaging	Het
Sorcs1	T	A	19: 50,171,107 (GRCm39)	Y927F	probably benign	Het
Spats2	T	G	15: 99,078,603 (GRCm39)	M191R	possibly damaging	Het
Sycp1	C	T	3: 102,829,778 (GRCm39)		probably null	Het
T2	A	G	17: 8,609,848 (GRCm39)	E99G	possibly damaging	Het
Taf3	G	A	2: 10,053,375 (GRCm39)		probably benign	Het
Tnfsf10	A	T	3: 27,389,728 (GRCm39)	N263I	probably damaging	Het
Treml2	A	T	17: 48,615,203 (GRCm39)	R229S	probably benign	Het
Trmt13	T	C	3: 116,383,404 (GRCm39)	K125E	probably damaging	Het
Ttc9	G	T	12: 81,678,375 (GRCm39)	C66F	probably damaging	Het
Vmn2r63	C	T	7: 42,577,544 (GRCm39)	M331I	probably benign	Het
Zfp353-ps	T	C	8: 42,535,251 (GRCm39)		noncoding transcript	Het
Zfp932	A	T	5: 110,157,760 (GRCm39)	H486L	probably damaging	Het

Other mutations in Copb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01802:Copb1	APN	7	113,826,011 (GRCm39)	missense	probably benign	0.00
IGL02458:Copb1	APN	7	113,846,020 (GRCm39)	missense	probably benign	0.00
IGL02549:Copb1	APN	7	113,846,032 (GRCm39)	missense	probably benign	0.00
IGL02639:Copb1	APN	7	113,825,830 (GRCm39)	splice site	probably benign
robbers	UTSW	7	113,848,211 (GRCm39)	missense	probably damaging	1.00
R0012:Copb1	UTSW	7	113,836,643 (GRCm39)	missense	probably damaging	0.99
R0012:Copb1	UTSW	7	113,836,643 (GRCm39)	missense	probably damaging	0.99
R0023:Copb1	UTSW	7	113,849,329 (GRCm39)	missense	probably benign	0.26
R0631:Copb1	UTSW	7	113,832,517 (GRCm39)	missense	probably benign	0.12
R1996:Copb1	UTSW	7	113,831,438 (GRCm39)	missense	probably benign	0.00
R2256:Copb1	UTSW	7	113,853,110 (GRCm39)	missense	possibly damaging	0.89
R2257:Copb1	UTSW	7	113,853,110 (GRCm39)	missense	possibly damaging	0.89
R3853:Copb1	UTSW	7	113,822,551 (GRCm39)	missense	probably damaging	1.00
R4686:Copb1	UTSW	7	113,820,971 (GRCm39)	missense	possibly damaging	0.94
R5057:Copb1	UTSW	7	113,825,997 (GRCm39)	missense	probably benign
R5140:Copb1	UTSW	7	113,846,035 (GRCm39)	missense	probably benign	0.01
R5669:Copb1	UTSW	7	113,836,820 (GRCm39)	missense	probably damaging	1.00
R5779:Copb1	UTSW	7	113,818,807 (GRCm39)	missense	probably damaging	1.00
R6017:Copb1	UTSW	7	113,836,032 (GRCm39)	missense	probably benign	0.07
R6114:Copb1	UTSW	7	113,846,036 (GRCm39)	missense	probably benign	0.00
R6403:Copb1	UTSW	7	113,837,686 (GRCm39)	missense	probably damaging	1.00
R6826:Copb1	UTSW	7	113,825,954 (GRCm39)	missense	probably benign	0.00
R6905:Copb1	UTSW	7	113,853,125 (GRCm39)	missense	probably benign	0.00
R7241:Copb1	UTSW	7	113,836,591 (GRCm39)	missense	probably damaging	0.96
R7293:Copb1	UTSW	7	113,818,837 (GRCm39)	missense	probably damaging	1.00
R7485:Copb1	UTSW	7	113,844,720 (GRCm39)	missense	possibly damaging	0.94
R8103:Copb1	UTSW	7	113,834,202 (GRCm39)	missense	possibly damaging	0.67
R8427:Copb1	UTSW	7	113,825,989 (GRCm39)	missense	probably benign	0.03
R8690:Copb1	UTSW	7	113,849,463 (GRCm39)	missense	probably benign	0.02
R8843:Copb1	UTSW	7	113,820,935 (GRCm39)	missense	possibly damaging	0.81
R9405:Copb1	UTSW	7	113,822,458 (GRCm39)	missense	possibly damaging	0.78
R9425:Copb1	UTSW	7	113,848,182 (GRCm39)	missense	probably damaging	1.00
R9513:Copb1	UTSW	7	113,831,432 (GRCm39)	missense	probably benign	0.00
R9563:Copb1	UTSW	7	113,836,034 (GRCm39)	missense	possibly damaging	0.73
R9564:Copb1	UTSW	7	113,836,034 (GRCm39)	missense	possibly damaging	0.73
R9566:Copb1	UTSW	7	113,825,997 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GATCCTCCCTTACCTGTAGATGG -3'
(R):5'- TGAAACTTAAGTCTGTGAGATGGC -3'

Sequencing Primer
(F):5'- ACCTGTAGATGGTATAGATCCTCC -3'
(R):5'- CTCAGCAGGTAAAGAGAGTTTGACTC -3'

Posted On

2016-05-27