Mutagenetix > Incidental Mutation

Incidental Mutation 'R9564:Copb1'

721348

Institutional Source

Beutler Lab

Gene Symbol

Copb1

Ensembl Gene

ENSMUSG00000030754

Gene Name

coatomer protein complex, subunit beta 1

Synonyms

2610019B04Rik, Copb1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R9564 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113814794-113853915 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113836034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 449 (I449T)

Ref Sequence

ENSEMBL: ENSMUSP00000033012 (fasta)

Gene Model

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

AlphaFold

Q9JIF7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033012
AA Change: I449T

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000033012
Gene: ENSMUSG00000030754
AA Change: I449T

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: 99.6%
20x: 98.8%

Validation Efficiency

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: 135 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,104,090 (GRCm39)	N176K	possibly damaging	Het
3110009E18Rik	T	A	1: 120,097,006 (GRCm39)	V134E		Het
Abca8a	T	A	11: 109,965,010 (GRCm39)	H429L	probably benign	Het
Acsf2	T	A	11: 94,463,891 (GRCm39)	I98F	possibly damaging	Het
Actr5	A	G	2: 158,470,135 (GRCm39)	D255G	probably damaging	Het
Adam21	C	T	12: 81,605,833 (GRCm39)	C643Y	probably damaging	Het
Adcy7	TGG	TG	8: 89,053,053 (GRCm39)		probably null	Het
AI429214	A	G	8: 37,461,067 (GRCm39)	S72G	possibly damaging	Het
Akap13	T	C	7: 75,259,161 (GRCm39)	V595A	probably benign	Het
Akt3	T	C	1: 176,907,769 (GRCm39)	T209A	possibly damaging	Het
Alpk2	C	T	18: 65,439,014 (GRCm39)	G793D	probably damaging	Het
Amotl1	T	C	9: 14,473,513 (GRCm39)	K562R	possibly damaging	Het
Ankib1	T	A	5: 3,805,733 (GRCm39)	N178I	possibly damaging	Het
Arfgef1	A	T	1: 10,217,758 (GRCm39)	D1560E	probably benign	Het
Arhgap20	AAGAGAG	AAGAG	9: 51,761,413 (GRCm39)		probably null	Het
Arpc5l	A	G	2: 38,905,124 (GRCm39)	T152A	probably benign	Het
Asic3	C	G	5: 24,620,875 (GRCm39)	D252E	possibly damaging	Het
Atf7	T	A	15: 102,442,712 (GRCm39)	M466L	probably benign	Het
Bcl9l	A	G	9: 44,420,554 (GRCm39)	D1320G	probably damaging	Het
Bdkrb1	G	A	12: 105,571,078 (GRCm39)	V215I	probably benign	Het
Brpf3	T	G	17: 29,026,152 (GRCm39)	D408E	probably benign	Het
Btn2a2	C	A	13: 23,662,848 (GRCm39)	K367N	possibly damaging	Het
Btnl10	T	A	11: 58,813,189 (GRCm39)	F273I	probably benign	Het
C1qtnf12	C	T	4: 156,049,473 (GRCm39)	T145I	probably benign	Het
Cacna1s	T	C	1: 136,046,516 (GRCm39)	C1763R	probably benign	Het
Ccdc154	C	A	17: 25,387,381 (GRCm39)	Q372K	possibly damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Celsr2	T	C	3: 108,321,834 (GRCm39)	Y326C	probably damaging	Het
Cfap46	A	T	7: 139,231,471 (GRCm39)	V914E		Het
Coil	T	A	11: 88,872,626 (GRCm39)	V329E	possibly damaging	Het
Copg1	T	G	6: 87,869,683 (GRCm39)	S187R	probably damaging	Het
Cps1	T	A	1: 67,198,048 (GRCm39)	F371Y	probably benign	Het
Cpt1b	A	T	15: 89,303,472 (GRCm39)	F554L	probably damaging	Het
Ctdsp2	A	G	10: 126,832,040 (GRCm39)	D216G	probably damaging	Het
Ctla2b	A	T	13: 61,043,856 (GRCm39)	Y104*	probably null	Het
Cyp2j6	A	G	4: 96,414,245 (GRCm39)	I340T	probably damaging	Het
Ddi1	T	A	9: 6,265,730 (GRCm39)	D213V	probably damaging	Het
Degs1l	G	T	1: 180,882,810 (GRCm39)	V191F	possibly damaging	Het
Dennd2b	G	T	7: 109,125,536 (GRCm39)	D980E	probably damaging	Het
Dlgap1	T	G	17: 70,964,458 (GRCm39)	N400K	probably benign	Het
Dnah5	G	A	15: 28,290,422 (GRCm39)	V1271M	probably benign	Het
Dnah8	T	A	17: 30,932,021 (GRCm39)	V1463E	probably benign	Het
Dstyk	G	A	1: 132,362,023 (GRCm39)	R151H	probably damaging	Het
Ehd3	T	G	17: 74,137,361 (GRCm39)	V510G	probably benign	Het
Enthd1	G	T	15: 80,444,235 (GRCm39)	Q107K	probably damaging	Het
Entpd7	A	G	19: 43,705,889 (GRCm39)	E237G	probably benign	Het
Fadd	A	T	7: 144,136,048 (GRCm39)	C27S	probably damaging	Het
Fan1	A	G	7: 63,999,240 (GRCm39)	L874P	possibly damaging	Het
Fbxw17	T	C	13: 50,579,605 (GRCm39)	W141R	probably damaging	Het
Fig4	A	G	10: 41,161,387 (GRCm39)	V63A	probably benign	Het
Fmo3	T	C	1: 162,786,021 (GRCm39)	D323G	probably damaging	Het
Gas8	T	A	8: 124,263,179 (GRCm39)	V452E	possibly damaging	Het
Gdf9	T	A	11: 53,327,511 (GRCm39)	S156T	probably damaging	Het
Hlcs	T	C	16: 93,935,580 (GRCm39)	S571G	probably benign	Het
Hmox2	A	G	16: 4,582,870 (GRCm39)	Y201C	probably damaging	Het
Ikzf3	T	A	11: 98,358,032 (GRCm39)	D435V	probably damaging	Het
Kank2	T	C	9: 21,705,852 (GRCm39)	T389A	possibly damaging	Het
Kank2	A	G	9: 21,706,631 (GRCm39)	L129P	probably damaging	Het
Kdr	T	A	5: 76,125,565 (GRCm39)	K339N	probably benign	Het
Lmntd2	A	G	7: 140,790,701 (GRCm39)	S516P		Het
Lrrc37	T	C	11: 103,503,822 (GRCm39)	I2715M	unknown	Het
Lrrc40	T	A	3: 157,746,078 (GRCm39)	V51D	probably benign	Het
Lrrtm1	A	G	6: 77,221,536 (GRCm39)	N331S	probably benign	Het
Lvrn	T	G	18: 47,017,506 (GRCm39)	I612S	probably damaging	Het
Map3k3	T	A	11: 106,041,860 (GRCm39)	I413N	probably damaging	Het
Mcm9	C	T	10: 53,506,104 (GRCm39)	A57T	possibly damaging	Het
Met	T	A	6: 17,531,425 (GRCm39)	F568I	probably benign	Het
Mkx	A	G	18: 7,002,457 (GRCm39)	F30L	probably benign	Het
Mrc1	A	G	2: 14,266,117 (GRCm39)	N345S	probably benign	Het
Mstn	T	A	1: 53,103,367 (GRCm39)	N234K	probably benign	Het
Mtmr3	A	T	11: 4,440,992 (GRCm39)	S554T	possibly damaging	Het
Mug1	G	A	6: 121,861,587 (GRCm39)	V1350I	probably benign	Het
Myh8	T	C	11: 67,177,215 (GRCm39)	V427A	probably benign	Het
Nr4a2	A	T	2: 57,000,190 (GRCm39)	I365N	probably damaging	Het
Nrxn2	A	G	19: 6,559,887 (GRCm39)	D1215G	probably damaging	Het
Or2d3c	A	G	7: 106,525,847 (GRCm39)	M273T	probably benign	Het
Or6c33	T	C	10: 129,853,287 (GRCm39)	I19T	probably benign	Het
Or7g18	G	A	9: 18,786,640 (GRCm39)	V3I	probably benign	Het
Osbpl6	T	A	2: 76,426,321 (GRCm39)	W967R	probably damaging	Het
Pcdhb21	T	C	18: 37,646,972 (GRCm39)	S34P	possibly damaging	Het
Pibf1	G	T	14: 99,374,610 (GRCm39)	D350Y	possibly damaging	Het
Pira1	C	T	7: 3,742,646 (GRCm39)	V21M	possibly damaging	Het
Plekhs1	A	T	19: 56,461,628 (GRCm39)	I123F	probably damaging	Het
Pold2	C	T	11: 5,824,163 (GRCm39)	G214D	probably benign	Het
Pomc	A	G	12: 4,009,971 (GRCm39)	T71A	probably benign	Het
Pot1b	A	G	17: 55,969,465 (GRCm39)	S568P	possibly damaging	Het
Prkd2	C	A	7: 16,591,744 (GRCm39)	Q592K	possibly damaging	Het
Prss28	C	T	17: 25,528,911 (GRCm39)	A84V	probably damaging	Het
Prtg	T	A	9: 72,766,153 (GRCm39)	Y649N	probably damaging	Het
Psip1	T	C	4: 83,386,888 (GRCm39)	E161G	possibly damaging	Het
Rab3gap2	A	G	1: 185,014,691 (GRCm39)	D1280G	probably damaging	Het
Rab3ip	A	T	10: 116,751,780 (GRCm39)	I329N	probably damaging	Het
Rarres2	C	T	6: 48,549,164 (GRCm39)	G13D	possibly damaging	Het
Rbp3	A	G	14: 33,677,477 (GRCm39)	D475G	probably damaging	Het
Ric3	A	G	7: 108,638,018 (GRCm39)	V246A	probably damaging	Het
Robo3	A	G	9: 37,340,900 (GRCm39)	F124S	probably damaging	Het
Rpl27a	C	A	7: 109,118,837 (GRCm39)	H17N	probably benign	Het
Rptn	A	G	3: 93,304,536 (GRCm39)	D623G	probably benign	Het
Rtl1	G	T	12: 109,556,713 (GRCm39)	Q1709K	probably benign	Het
Sacs	T	A	14: 61,449,046 (GRCm39)	D3697E	probably damaging	Het
Sec61b	A	G	4: 47,483,049 (GRCm39)	Y93C	probably damaging	Het
Serpina3a	A	T	12: 104,084,886 (GRCm39)	I94L	probably benign	Het
Skic2	C	T	17: 35,063,758 (GRCm39)	A562T	probably benign	Het
Skor2	C	T	18: 76,946,376 (GRCm39)	H33Y	unknown	Het
Slc12a3	G	A	8: 95,082,983 (GRCm39)	V874I	probably benign	Het
Slit1	T	A	19: 41,591,861 (GRCm39)	M1254L	probably benign	Het
Smg1	A	G	7: 117,812,208 (GRCm39)	S52P	unknown	Het
Sorl1	A	G	9: 41,957,893 (GRCm39)	Y584H	probably damaging	Het
Spata32	T	A	11: 103,099,779 (GRCm39)	Q242L	possibly damaging	Het
Sptbn4	T	G	7: 27,117,504 (GRCm39)	E415A	probably damaging	Het
St6galnac5	T	C	3: 152,545,782 (GRCm39)	R259G	probably damaging	Het
Stat3	T	C	11: 100,784,614 (GRCm39)	I589V	probably benign	Het
Tecta	T	A	9: 42,249,123 (GRCm39)	K1913M	probably damaging	Het
Tek	C	A	4: 94,762,172 (GRCm39)	N1103K	probably damaging	Het
Telo2	A	G	17: 25,334,199 (GRCm39)	I16T	probably benign	Het
Tmem207	G	T	16: 26,335,499 (GRCm39)	C79*	probably null	Het
Topaz1	C	T	9: 122,579,219 (GRCm39)	H710Y	probably benign	Het
Trim33	T	A	3: 103,238,965 (GRCm39)	S648T	probably benign	Het
Trpm6	A	G	19: 18,851,240 (GRCm39)	T1734A	possibly damaging	Het
Trpm8	A	G	1: 88,254,158 (GRCm39)	E127G	possibly damaging	Het
Ttc3	T	A	16: 94,248,918 (GRCm39)	C1139S	probably benign	Het
Ttn	T	C	2: 76,580,330 (GRCm39)	E23521G	probably damaging	Het
Ush2a	T	C	1: 188,268,551 (GRCm39)	I1669T	possibly damaging	Het
Vcpip1	C	A	1: 9,817,456 (GRCm39)	S309I	possibly damaging	Het
Vmn1r208	A	G	13: 22,956,789 (GRCm39)	V236A	probably damaging	Het
Vmn1r74	T	C	7: 11,581,534 (GRCm39)	F278S	probably damaging	Het
Vmn2r33	T	C	7: 7,557,081 (GRCm39)	S540G	probably benign	Het
Vmn2r52	T	C	7: 9,905,182 (GRCm39)	D219G	probably benign	Het
Wiz	G	T	17: 32,575,939 (GRCm39)	D812E	probably benign	Het
Ylpm1	C	T	12: 85,091,176 (GRCm39)	P1787S	probably benign	Het
Zan	T	C	5: 137,404,688 (GRCm39)	E3858G	unknown	Het
Zfp760	T	G	17: 21,942,272 (GRCm39)	H482Q	possibly damaging	Het
Zfp78	A	G	7: 6,381,390 (GRCm39)	T147A	probably benign	Het
Zfp808	T	A	13: 62,320,661 (GRCm39)	I630K	possibly damaging	Het
Zpld1	T	A	16: 55,061,701 (GRCm39)	R227*	probably null	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
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
R9566:Copb1	UTSW	7	113,825,997 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTCATCCTGTGATTCACAATG -3'
(R):5'- GGAAACTATATAACTGTTTGCCCC -3'

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

Posted On

2022-08-09