Incidental Mutation 'R7309:Cop1'
ID 567425
Institutional Source Beutler Lab
Gene Symbol Cop1
Ensembl Gene ENSMUSG00000040782
Gene Name COP1, E3 ubiquitin ligase
Synonyms Rfwd2, Cop1
MMRRC Submission 045408-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.900) question?
Stock # R7309 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 159059890-159175210 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 159134195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 446 (K446E)
Ref Sequence ENSEMBL: ENSMUSP00000076160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076894] [ENSMUST00000195044]
AlphaFold Q9R1A8
Predicted Effect probably damaging
Transcript: ENSMUST00000076894
AA Change: K446E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000076160
Gene: ENSMUSG00000040782
AA Change: K446E

DomainStartEndE-ValueType
low complexity region 2 87 N/A INTRINSIC
low complexity region 98 112 N/A INTRINSIC
RING 138 175 3.69e-8 SMART
coiled coil region 235 305 N/A INTRINSIC
WD40 412 451 1.72e0 SMART
WD40 462 501 3.4e-2 SMART
WD40 504 544 3.42e-7 SMART
WD40 547 586 6.79e-2 SMART
WD40 590 628 1.9e-5 SMART
WD40 631 670 4.46e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192044
Predicted Effect probably benign
Transcript: ENSMUST00000192762
Predicted Effect probably damaging
Transcript: ENSMUST00000195044
AA Change: K146E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141200
Gene: ENSMUSG00000040782
AA Change: K146E

DomainStartEndE-ValueType
WD40 112 151 1.1e-2 SMART
WD40 162 201 2.1e-4 SMART
Meta Mutation Damage Score 0.4177 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 94% (47/50)
MGI Phenotype PHENOTYPE: Mice homozygous for a conditional allele activated in prostate epithelial cells exhibit prostate gland hyperplasia and prostate intraepithelial neoplasia due to increased cell proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A C 5: 109,884,819 (GRCm39) H346Q probably damaging Het
4932414N04Rik A T 2: 68,546,530 (GRCm39) I71L probably benign Het
Anapc1 A G 2: 128,516,604 (GRCm39) S377P probably damaging Het
Cldnd2 A G 7: 43,091,133 (GRCm39) T22A possibly damaging Het
Comp A T 8: 70,826,328 (GRCm39) probably null Het
Cox18 T C 5: 90,362,917 (GRCm39) T314A possibly damaging Het
Csrp3 A G 7: 48,485,317 (GRCm39) V60A probably benign Het
Dnah8 A T 17: 31,093,988 (GRCm39) Y4694F probably damaging Het
Dnm1l A G 16: 16,139,510 (GRCm39) Y493H probably damaging Het
Esf1 A T 2: 139,967,011 (GRCm39) probably null Het
Fam187a T A 11: 102,776,832 (GRCm39) V212E probably damaging Het
Fign A T 2: 63,810,301 (GRCm39) M323K possibly damaging Het
Foxf2 A G 13: 31,810,496 (GRCm39) K145R probably damaging Het
Fxyd5 T C 7: 30,734,829 (GRCm39) N133D probably benign Het
Hnrnpdl A T 5: 100,185,482 (GRCm39) L240* probably null Het
Kcna7 T G 7: 45,058,679 (GRCm39) F322C probably damaging Het
Kcnj9 A G 1: 172,153,825 (GRCm39) C100R probably damaging Het
Lrrc14b C A 13: 74,511,321 (GRCm39) C253F probably benign Het
Map3k11 T C 19: 5,740,486 (GRCm39) V71A probably damaging Het
Med13 C A 11: 86,181,888 (GRCm39) M1315I probably benign Het
Mettl24 T C 10: 40,686,496 (GRCm39) V291A probably benign Het
Miox G T 15: 89,220,252 (GRCm39) C148F probably damaging Het
Mpdz A T 4: 81,300,195 (GRCm39) probably null Het
Mthfsd G A 8: 121,835,070 (GRCm39) probably benign Het
Myh15 G A 16: 48,916,828 (GRCm39) A383T probably benign Het
Nlrc5 A G 8: 95,200,670 (GRCm39) H117R probably benign Het
Ntrk1 A T 3: 87,702,384 (GRCm39) M23K probably benign Het
Or14c45 T A 7: 86,176,349 (GRCm39) L128H probably damaging Het
Or4c3d T A 2: 89,881,801 (GRCm39) N289I probably damaging Het
Or8g21 T A 9: 38,906,576 (GRCm39) S52C probably damaging Het
Pkd1l3 A G 8: 110,374,893 (GRCm39) probably null Het
Plcz1 A T 6: 139,968,882 (GRCm39) D185E probably damaging Het
Plekhg5 C A 4: 152,196,985 (GRCm39) Q757K possibly damaging Het
Prr23a2 T A 9: 98,739,027 (GRCm39) D128E probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Sgsm1 A T 5: 113,416,712 (GRCm39) probably null Het
Sh3bp5 C T 14: 31,100,246 (GRCm39) V221M probably benign Het
Slc25a27 A T 17: 43,975,083 (GRCm39) D59E probably benign Het
Slc35e1 G C 8: 73,246,358 (GRCm39) R25G unknown Het
Slc4a4 T C 5: 89,318,610 (GRCm39) V626A probably benign Het
Slfn5 T C 11: 82,847,529 (GRCm39) L138P probably damaging Het
Stat1 A G 1: 52,165,780 (GRCm39) probably null Het
Tnks2 G T 19: 36,829,936 (GRCm39) A206S probably damaging Het
Trav7-1 C A 14: 52,892,521 (GRCm39) Q25K probably benign Het
Ttn A G 2: 76,728,670 (GRCm39) M5470T unknown Het
Vps35 A T 8: 86,001,596 (GRCm39) D407E probably benign Het
Wdr90 T C 17: 26,079,676 (GRCm39) D190G probably benign Het
Wdr93 T A 7: 79,423,103 (GRCm39) F456I possibly damaging Het
Wdr95 A G 5: 149,529,758 (GRCm39) E675G probably benign Het
Other mutations in Cop1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02572:Cop1 APN 1 159,136,448 (GRCm39) unclassified probably benign
IGL02945:Cop1 APN 1 159,134,259 (GRCm39) missense probably benign 0.20
IGL03059:Cop1 APN 1 159,134,279 (GRCm39) missense probably damaging 1.00
R0032:Cop1 UTSW 1 159,152,606 (GRCm39) critical splice donor site probably null
R0179:Cop1 UTSW 1 159,077,636 (GRCm39) missense probably benign 0.20
R0846:Cop1 UTSW 1 159,147,386 (GRCm39) missense probably benign 0.26
R0988:Cop1 UTSW 1 159,072,242 (GRCm39) missense probably damaging 1.00
R0988:Cop1 UTSW 1 159,060,417 (GRCm39) missense possibly damaging 0.76
R2296:Cop1 UTSW 1 159,072,220 (GRCm39) missense possibly damaging 0.92
R2297:Cop1 UTSW 1 159,080,124 (GRCm39) missense possibly damaging 0.53
R2504:Cop1 UTSW 1 159,060,375 (GRCm39) missense probably damaging 0.98
R2974:Cop1 UTSW 1 159,152,499 (GRCm39) missense possibly damaging 0.95
R4889:Cop1 UTSW 1 159,112,159 (GRCm39) missense probably damaging 1.00
R4965:Cop1 UTSW 1 159,067,167 (GRCm39) missense probably damaging 0.99
R4981:Cop1 UTSW 1 159,152,638 (GRCm39) unclassified probably benign
R5124:Cop1 UTSW 1 159,105,682 (GRCm39) missense probably damaging 0.96
R5263:Cop1 UTSW 1 159,152,507 (GRCm39) missense probably damaging 1.00
R5268:Cop1 UTSW 1 159,154,734 (GRCm39) missense probably damaging 1.00
R5470:Cop1 UTSW 1 159,094,430 (GRCm39) intron probably benign
R5595:Cop1 UTSW 1 159,077,643 (GRCm39) missense probably benign 0.00
R5919:Cop1 UTSW 1 159,147,294 (GRCm39) missense probably damaging 1.00
R6386:Cop1 UTSW 1 159,116,601 (GRCm39) missense probably damaging 1.00
R6865:Cop1 UTSW 1 159,136,524 (GRCm39) missense probably damaging 1.00
R6995:Cop1 UTSW 1 159,134,154 (GRCm39) missense probably damaging 1.00
R7056:Cop1 UTSW 1 159,077,647 (GRCm39) missense probably damaging 0.98
R7146:Cop1 UTSW 1 159,071,922 (GRCm39) splice site probably null
R7242:Cop1 UTSW 1 159,112,118 (GRCm39) missense probably benign 0.00
R8495:Cop1 UTSW 1 159,077,600 (GRCm39) missense probably benign 0.01
R9125:Cop1 UTSW 1 159,067,187 (GRCm39) missense probably damaging 1.00
R9180:Cop1 UTSW 1 159,147,339 (GRCm39) missense probably damaging 1.00
R9269:Cop1 UTSW 1 159,116,553 (GRCm39) missense probably benign 0.28
R9337:Cop1 UTSW 1 159,072,221 (GRCm39) missense probably benign 0.17
R9696:Cop1 UTSW 1 159,076,783 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGTCTTATTTGGAGGAATAGAAGCTC -3'
(R):5'- CCAAAGCATGCTCTCTGAATG -3'

Sequencing Primer
(F):5'- CCTAAGTTTAAGCTTCAGCACTAGGG -3'
(R):5'- CTCTCTGAATGAGAAAGTCTC -3'
Posted On 2019-06-26