Mutagenetix > Incidental Mutation

Incidental Mutation 'R7485:Copb1'

580075

Institutional Source

Beutler Lab

Gene Symbol

Copb1

Ensembl Gene

ENSMUSG00000030754

Gene Name

coatomer protein complex, subunit beta 1

Synonyms

2610019B04Rik, Copb1

MMRRC Submission

045559-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R7485 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113814794-113853915 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 113844720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 213 (I213S)

Ref Sequence

ENSEMBL: ENSMUSP00000033012 (fasta)

Gene Model

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

AlphaFold

Q9JIF7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033012
AA Change: I213S

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033012
Gene: ENSMUSG00000030754
AA Change: I213S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (99/100)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat3	C	T	10: 80,442,234 (GRCm39)	A24V	probably benign	Het
Agbl1	A	T	7: 76,239,241 (GRCm39)	E832D	unknown	Het
Akap8l	G	A	17: 32,554,545 (GRCm39)	S347L	probably benign	Het
Ankmy1	G	T	1: 92,804,379 (GRCm39)	A868E	probably damaging	Het
Ankrd49	A	T	9: 14,693,837 (GRCm39)	L110*	probably null	Het
Aoc3	A	G	11: 101,228,229 (GRCm39)	T679A	probably damaging	Het
Ap1s3	A	G	1: 79,592,018 (GRCm39)	Y111H	probably damaging	Het
Arnt	T	A	3: 95,402,659 (GRCm39)	N777K	probably damaging	Het
Atp4b	A	T	8: 13,436,732 (GRCm39)	M260K	probably benign	Het
Bcl2l15	A	T	3: 103,740,729 (GRCm39)	D65V	probably damaging	Het
Bicdl1	G	T	5: 115,801,845 (GRCm39)	S340*	probably null	Het
Ccdc15	T	C	9: 37,226,574 (GRCm39)	R467G	probably benign	Het
Ccdc68	T	A	18: 70,102,084 (GRCm39)	M327K	possibly damaging	Het
Ccdc83	T	C	7: 89,873,138 (GRCm39)	T406A	probably benign	Het
Ccnf	A	T	17: 24,468,232 (GRCm39)	V55D	probably damaging	Het
Cdcp3	C	A	7: 130,830,562 (GRCm39)	P332Q	probably damaging	Het
Cldn12	A	G	5: 5,558,008 (GRCm39)	F140L	probably benign	Het
Cps1	G	A	1: 67,179,016 (GRCm39)	G76D	probably damaging	Het
Ctrc	A	G	4: 141,567,627 (GRCm39)	W159R	probably damaging	Het
Cul4a	C	T	8: 13,190,279 (GRCm39)	T572M	possibly damaging	Het
Cyp2c40	A	T	19: 39,796,050 (GRCm39)	Y109*	probably null	Het
Dcc	A	G	18: 71,553,317 (GRCm39)	Y780H	probably benign	Het
Dctn1	C	T	6: 83,166,887 (GRCm39)	A283V	possibly damaging	Het
Dio1	T	C	4: 107,154,874 (GRCm39)	D134G	probably benign	Het
Dlg5	A	T	14: 24,227,907 (GRCm39)	L338Q	probably damaging	Het
Dlg5	A	T	14: 24,198,390 (GRCm39)	D1514E	probably benign	Het
Dlgap2	A	T	8: 14,879,952 (GRCm39)	K767N	probably damaging	Het
Dst	A	T	1: 34,313,270 (GRCm39)	I4346F	probably benign	Het
Dzip1l	T	C	9: 99,543,065 (GRCm39)	F507L	probably benign	Het
Erich2	A	T	2: 70,362,109 (GRCm39)	D300V	probably damaging	Het
Fam114a2	C	T	11: 57,404,515 (GRCm39)	G83D	probably damaging	Het
Fam131a	C	T	16: 20,520,444 (GRCm39)	A299V	probably benign	Het
Fbln2	A	G	6: 91,247,143 (GRCm39)		probably null	Het
Fbn2	T	C	18: 58,204,912 (GRCm39)	D1177G	possibly damaging	Het
Fbxl6	T	C	15: 76,422,113 (GRCm39)		probably null	Het
Frem3	A	T	8: 81,339,965 (GRCm39)	I753F	probably damaging	Het
Gfra1	A	G	19: 58,288,744 (GRCm39)	S234P	probably damaging	Het
Gtse1	T	A	15: 85,752,901 (GRCm39)	S339T	probably benign	Het
Hdgfl3	T	C	7: 81,550,106 (GRCm39)	N76S	probably benign	Het
Herc6	A	G	6: 57,558,089 (GRCm39)	E23G	probably benign	Het
Hid1	T	A	11: 115,245,545 (GRCm39)	H420L	probably damaging	Het
Igsf21	G	A	4: 139,755,049 (GRCm39)	T440I	probably benign	Het
Ikzf4	T	A	10: 128,468,451 (GRCm39)	H676L	unknown	Het
Il18r1	A	G	1: 40,520,140 (GRCm39)	E177G	probably benign	Het
Iqch	A	G	9: 63,415,599 (GRCm39)	Y558H	possibly damaging	Het
Kif11	A	T	19: 37,399,072 (GRCm39)	N752I	possibly damaging	Het
Kntc1	T	A	5: 123,925,019 (GRCm39)	C1111S	possibly damaging	Het
Krtap9-5	A	G	11: 99,839,800 (GRCm39)	K167R	unknown	Het
Lgalsl2	C	T	7: 5,362,440 (GRCm39)	R24C	probably benign	Het
Lipe	G	T	7: 25,080,036 (GRCm39)	T704K	probably benign	Het
Lrrc32	A	T	7: 98,147,414 (GRCm39)	I65F	possibly damaging	Het
Mogs	C	T	6: 83,093,188 (GRCm39)	H179Y	probably damaging	Het
Mtnr1b	A	T	9: 15,774,590 (GRCm39)	Y156*	probably null	Het
Mtus1	T	C	8: 41,537,590 (GRCm39)	H42R	probably benign	Het
Mx2	T	A	16: 97,346,918 (GRCm39)	D128E	probably benign	Het
Myof	A	T	19: 37,939,939 (GRCm39)	L829*	probably null	Het
Naip6	T	C	13: 100,420,359 (GRCm39)	K1304E	probably benign	Het
Neo1	A	C	9: 58,791,826 (GRCm39)	S1307R	probably benign	Het
Nipbl	A	T	15: 8,359,779 (GRCm39)	D1475E	probably benign	Het
Nlrp9b	T	A	7: 19,757,875 (GRCm39)	F371I	probably damaging	Het
Nrip1	A	T	16: 76,088,338 (GRCm39)	M1073K	probably damaging	Het
Obox6	T	C	7: 15,567,863 (GRCm39)	N195D	probably damaging	Het
Or13a18	T	A	7: 140,190,091 (GRCm39)	I4K	probably benign	Het
Or1j18	T	A	2: 36,624,650 (GRCm39)	F106I	probably benign	Het
Or5ac24	A	T	16: 59,165,687 (GRCm39)	C126S	probably damaging	Het
Or5b99	C	T	19: 12,976,922 (GRCm39)	H191Y	probably benign	Het
Or5p64	C	A	7: 107,855,045 (GRCm39)	C100F	probably damaging	Het
Pax7	T	C	4: 139,511,880 (GRCm39)	K232E	probably benign	Het
Phldb3	C	T	7: 24,310,689 (GRCm39)		probably benign	Het
Pkd1l1	C	A	11: 8,915,148 (GRCm39)	V131L		Het
Ppp2r5a	A	G	1: 191,128,532 (GRCm39)	S28P	probably benign	Het
Prl8a1	A	G	13: 27,758,068 (GRCm39)	S214P	probably damaging	Het
Prmt2	A	T	10: 76,056,838 (GRCm39)	C228*	probably null	Het
Prpf8	C	T	11: 75,399,738 (GRCm39)	R2266*	probably null	Het
Rabl6	A	G	2: 25,474,153 (GRCm39)	S648P	unknown	Het
Ralgapa1	T	C	12: 55,759,457 (GRCm39)	K1022R	probably damaging	Het
Ralgapb	T	A	2: 158,285,275 (GRCm39)	D591E	probably benign	Het
Rprd1a	A	G	18: 24,639,889 (GRCm39)		probably null	Het
Rsu1	T	C	2: 13,221,686 (GRCm39)	R165G	probably damaging	Het
Samd8	A	G	14: 21,842,491 (GRCm39)	E334G	probably benign	Het
Scn9a	T	A	2: 66,364,561 (GRCm39)	Q804L	probably damaging	Het
Sez6	A	G	11: 77,864,711 (GRCm39)	D557G	probably benign	Het
Sgsm1	A	T	5: 113,427,501 (GRCm39)		probably null	Het
Slc17a3	T	A	13: 24,039,832 (GRCm39)	M290K		Het
Snd1	T	A	6: 28,531,449 (GRCm39)	V330E	probably benign	Het
Tceanc2	T	C	4: 107,022,852 (GRCm39)	K45R	probably damaging	Het
Tg	A	T	15: 66,568,437 (GRCm39)	I1375F	probably benign	Het
Tmem116	T	A	5: 121,633,124 (GRCm39)	I357K		Het
Tmem39a	G	T	16: 38,408,658 (GRCm39)	R407L	possibly damaging	Het
Tmem74	A	T	15: 43,730,761 (GRCm39)	M94K	probably benign	Het
Tpp1	C	T	7: 105,398,751 (GRCm39)	C226Y	probably damaging	Het
Trbv21	T	C	6: 41,179,861 (GRCm39)	I59T	not run	Het
Trim11	A	G	11: 58,869,463 (GRCm39)	D133G	probably benign	Het
Uaca	G	A	9: 60,753,282 (GRCm39)	V76I	probably damaging	Het
Ugt2a3	A	G	5: 87,475,539 (GRCm39)		probably null	Het
Vmn2r104	G	T	17: 20,249,737 (GRCm39)	H845N	probably benign	Het
Wdr24	T	C	17: 26,045,101 (GRCm39)	Y279H	probably damaging	Het
Zbtb46	A	G	2: 181,065,512 (GRCm39)	S213P	probably benign	Het
Zdhhc13	C	A	7: 48,461,103 (GRCm39)	Y346*	probably null	Het
Zfp280b	A	T	10: 75,875,075 (GRCm39)	H318L	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
R4679:Copb1	UTSW	7	113,848,211 (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
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'- ACCATTTGTTGAAGATGCTTCCTTT -3'
(R):5'- CATGAGCCCATGTGGTTGCT -3'

Sequencing Primer
(F):5'- GGGTCTTTGATTCACTGATCAAC -3'
(R):5'- GTTTTATATCTGGGGAAAAGTG -3'

Posted On

2019-10-07