Mutagenetix > Incidental Mutations

Incidental Mutation 'R0576:Copg1'

56227

Institutional Source

Beutler Lab

Gene Symbol

Copg1

Ensembl Gene

ENSMUSG00000030058

Gene Name

coatomer protein complex, subunit gamma 1

Synonyms

D6Ertd71e, Copg, D6Wsu16e

MMRRC Submission

038766-MU

Accession Numbers

Genbank: NM_017477, NM_201244; MGI: 1858696

Is this an essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R0576 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87887814-87913595 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87897963 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 380 (V380D)

Ref Sequence

ENSEMBL: ENSMUSP00000109237 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113607]

Predicted Effect

probably damaging
Transcript: ENSMUST00000113607
AA Change: V380D

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

SMART Domains

Protein: ENSMUSP00000109237
Gene: ENSMUSG00000030058
AA Change: V380D

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	23	539	4.1e-135	PFAM
Pfam:COP-gamma_platf	611	759	7.6e-64	PFAM
Pfam:Coatomer_g_Cpla	761	873	1.5e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149907

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205234

Meta Mutation Damage Score

0.9598

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.6%
20x: 94.9%

Validation Efficiency

92% (47/51)

Allele List at MGI

All alleles(58) : Targeted, other(2) Gene trapped(56)

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	A	T	2: 130,713,470	F839L	probably benign	Het
Ccdc77	T	A	6: 120,331,848	L335F	probably benign	Het
Ccr3	T	A	9: 124,029,009	F127Y	probably damaging	Het
Cfap43	T	C	19: 47,797,140	N437S	probably benign	Het
Cfh	A	G	1: 140,136,815	V365A	probably damaging	Het
Cxxc1	T	C	18: 74,220,185	I497T	possibly damaging	Het
Disp3	G	A	4: 148,241,590	T1237I	possibly damaging	Het
Dnah7a	A	T	1: 53,636,087	F360L	probably benign	Het
Dnhd1	C	T	7: 105,714,045	A3938V	probably damaging	Het
Eif4g1	A	G	16: 20,684,068	D1000G	probably damaging	Het
Emsy	A	T	7: 98,593,776	V1052D	probably damaging	Het
Ep400	A	G	5: 110,711,093		probably benign	Het
Fa2h	T	C	8: 111,356,147	H146R	probably damaging	Het
Gad1	G	A	2: 70,594,652	C430Y	probably benign	Het
Gm38394	A	G	1: 133,657,838	F587S	probably benign	Het
Gtse1	T	C	15: 85,869,051	S456P	probably damaging	Het
Gucy2g	T	C	19: 55,198,770	T1073A	probably damaging	Het
Hectd2	T	G	19: 36,585,497	N3K	probably benign	Het
Hmcn1	A	T	1: 150,650,017	C3318*	probably null	Het
Lipo2	C	T	19: 33,749,424	S71N	probably benign	Het
Mynn	G	T	3: 30,607,068	D100Y	probably damaging	Het
Myo16	G	A	8: 10,562,318		probably null	Het
Npr2	G	T	4: 43,640,947	K384N	probably benign	Het
Nrde2	A	G	12: 100,132,233	V725A	possibly damaging	Het
Olfr166	A	G	16: 19,487,188	M117V	probably damaging	Het
Olfr748	T	A	14: 50,711,204	S291R	probably damaging	Het
Otud7a	C	T	7: 63,685,518	P101S	possibly damaging	Het
Pcdhb7	T	A	18: 37,342,357	L182Q	probably benign	Het
Pdss1	A	G	2: 22,915,413		probably null	Het
Ppargc1b	T	A	18: 61,311,441	H233L	probably damaging	Het
Ppm1b	A	G	17: 85,013,559		probably null	Het
Prdm14	A	T	1: 13,125,725	S37R	possibly damaging	Het
Prss45	A	G	9: 110,838,429	T39A	probably benign	Het
Qars	T	C	9: 108,514,962		probably benign	Het
Rxfp2	T	G	5: 150,038,247	H77Q	probably benign	Het
Scd4	A	G	19: 44,341,246	M219V	probably benign	Het
Sec24b	G	T	3: 130,041,336	P71Q	probably benign	Het
Snd1	T	G	6: 28,886,577	V861G	probably benign	Het
Sspo	A	G	6: 48,464,942		probably null	Het
Tas2r129	A	G	6: 132,951,534	T145A	probably benign	Het
Tbc1d31	T	A	15: 57,969,724	I953N	possibly damaging	Het
Tlr4	A	G	4: 66,839,495	N175S	probably benign	Het
Tspyl4	A	G	10: 34,298,522	N337D	probably damaging	Het
Ttn	A	T	2: 76,812,201	L13330H	probably damaging	Het
Usp33	T	A	3: 152,384,119	Y765*	probably null	Het
Vmn2r59	T	A	7: 42,047,105	Y71F	probably benign	Het
Zfhx4	T	C	3: 5,402,101	S2465P	probably damaging	Het

Other mutations in Copg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Copg1	APN	6	87902370	missense	possibly damaging	0.94
IGL00816:Copg1	APN	6	87893898	missense	possibly damaging	0.95
IGL02087:Copg1	APN	6	87902210	missense	possibly damaging	0.68
R0194:Copg1	UTSW	6	87904197	splice site	probably benign
R0448:Copg1	UTSW	6	87904926	missense	probably benign
R0701:Copg1	UTSW	6	87894107	nonsense	probably null
R1251:Copg1	UTSW	6	87890007	nonsense	probably null
R1707:Copg1	UTSW	6	87905210	missense	probably benign
R1845:Copg1	UTSW	6	87893818	missense	probably damaging	1.00
R3500:Copg1	UTSW	6	87895923	splice site	probably benign
R3952:Copg1	UTSW	6	87905216	missense	probably benign
R4283:Copg1	UTSW	6	87908545	missense	probably damaging	1.00
R4515:Copg1	UTSW	6	87907546	intron	probably benign
R4715:Copg1	UTSW	6	87912286	nonsense	probably null
R4797:Copg1	UTSW	6	87903468	intron	probably benign
R4864:Copg1	UTSW	6	87889696	missense	probably damaging	1.00
R4947:Copg1	UTSW	6	87903473	splice site	probably benign
R5265:Copg1	UTSW	6	87892270	missense	probably damaging	0.98
R5288:Copg1	UTSW	6	87890207	missense	possibly damaging	0.90
R5386:Copg1	UTSW	6	87890207	missense	possibly damaging	0.90
R5511:Copg1	UTSW	6	87912294	missense	probably damaging	0.99
R5670:Copg1	UTSW	6	87912235	missense	probably damaging	1.00
R5887:Copg1	UTSW	6	87902297	missense	probably damaging	1.00
R7014:Copg1	UTSW	6	87902340	missense	probably damaging	1.00
R7021:Copg1	UTSW	6	87894105	missense	possibly damaging	0.94
R7380:Copg1	UTSW	6	87893842	missense	probably damaging	0.98
R7392:Copg1	UTSW	6	87890275	missense	probably benign	0.01
R7629:Copg1	UTSW	6	87894169	missense	possibly damaging	0.90
R7704:Copg1	UTSW	6	87907958	missense	probably benign	0.13
R8060:Copg1	UTSW	6	87909721	missense	probably damaging	0.96
R8184:Copg1	UTSW	6	87890014	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTGCCAAGACTGCCATATTTCCC -3'
(R):5'- CGCGGAAACAAGCCGTTTAACAG -3'

Sequencing Primer
(F):5'- GCCATATTTCCCCTGCCTTAG -3'
(R):5'- AGTGTTCTGAGCGTAACACC -3'

Posted On

2013-07-11