Incidental Mutation 'IGL01936:Cops7a'
ID 180707
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cops7a
Ensembl Gene ENSMUSG00000030127
Gene Name COP9 signalosome subunit 7A
Synonyms COP9 complex S7a, D6Ertd35e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01936
Quality Score
Status
Chromosome 6
Chromosomal Location 124935376-124942501 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124939379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 90 (D90G)
Ref Sequence ENSEMBL: ENSMUSP00000108058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032220] [ENSMUST00000112439] [ENSMUST00000129446] [ENSMUST00000129976] [ENSMUST00000148485]
AlphaFold Q9CZ04
Predicted Effect probably benign
Transcript: ENSMUST00000032220
AA Change: D90G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032220
Gene: ENSMUSG00000030127
AA Change: D90G

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
PINT 87 177 2.65e-18 SMART
coiled coil region 197 230 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083831
Predicted Effect probably benign
Transcript: ENSMUST00000112439
AA Change: D90G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108058
Gene: ENSMUSG00000030127
AA Change: D90G

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
PINT 87 177 2.65e-18 SMART
coiled coil region 197 230 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129446
AA Change: D90G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114420
Gene: ENSMUSG00000030127
AA Change: D90G

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
PINT 87 176 2e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129976
AA Change: D90G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117584
Gene: ENSMUSG00000030127
AA Change: D90G

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
PINT 87 177 2.65e-18 SMART
coiled coil region 197 222 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135645
Predicted Effect probably benign
Transcript: ENSMUST00000148485
SMART Domains Protein: ENSMUSP00000115348
Gene: ENSMUSG00000030127

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
Blast:PINT 31 77 2e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149346
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the COP9 signalosome, an evolutionarily conserved multi-subunit protease that regulates the activity of the ubiquitin conjugation pathway. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T A 5: 90,009,282 (GRCm39) H127L probably benign Het
Adamtsl3 T C 7: 82,244,579 (GRCm39) V419A possibly damaging Het
Arhgap31 T A 16: 38,423,287 (GRCm39) L926F probably damaging Het
Asgr2 A T 11: 69,988,877 (GRCm39) probably null Het
C3ar1 T A 6: 122,828,194 (GRCm39) T8S probably benign Het
Caskin2 T C 11: 115,695,543 (GRCm39) I273V probably damaging Het
Ccnl2 T A 4: 155,904,856 (GRCm39) C242S probably damaging Het
Cdkn2a A T 4: 89,212,569 (GRCm39) probably null Het
Cfap45 T G 1: 172,361,616 (GRCm39) M231R probably damaging Het
Clcn7 A C 17: 25,374,350 (GRCm39) N464H probably benign Het
Col20a1 T A 2: 180,651,161 (GRCm39) probably benign Het
Col7a1 T A 9: 108,797,067 (GRCm39) probably benign Het
Ctcf T C 8: 106,396,864 (GRCm39) V363A probably benign Het
Cyp2j12 A G 4: 96,021,306 (GRCm39) V100A probably benign Het
Dcaf1 T A 9: 106,736,800 (GRCm39) F1085Y possibly damaging Het
Drc7 T A 8: 95,800,760 (GRCm39) F594Y possibly damaging Het
Ehbp1l1 C A 19: 5,768,277 (GRCm39) E1009* probably null Het
Epg5 C A 18: 78,028,316 (GRCm39) R1286S probably damaging Het
Etv1 T C 12: 38,885,060 (GRCm39) probably benign Het
Exosc7 T C 9: 122,964,956 (GRCm39) probably benign Het
Fam227a T C 15: 79,496,747 (GRCm39) D610G possibly damaging Het
Fat4 T A 3: 39,033,923 (GRCm39) M2525K probably benign Het
Gimap5 G T 6: 48,729,999 (GRCm39) A190S probably damaging Het
Glcci1 T A 6: 8,579,596 (GRCm39) S79T probably damaging Het
Gpnmb C T 6: 49,024,384 (GRCm39) T233I probably null Het
Hdac1-ps T C 17: 78,799,558 (GRCm39) V183A probably damaging Het
Hyls1 T C 9: 35,473,363 (GRCm39) I18V probably benign Het
Ighv1-63 C T 12: 115,459,274 (GRCm39) E108K probably damaging Het
Ighv5-12 C A 12: 113,665,927 (GRCm39) R57L probably damaging Het
Igkv5-37 T C 6: 69,940,323 (GRCm39) Y107C probably damaging Het
Il20ra T A 10: 19,631,591 (GRCm39) V264D probably damaging Het
Jph1 A T 1: 17,167,608 (GRCm39) V74E probably damaging Het
Kcnab1 C T 3: 65,265,695 (GRCm39) L280F probably damaging Het
Kcnk1 T C 8: 126,751,826 (GRCm39) F144S probably damaging Het
Kcnq1 G A 7: 142,738,241 (GRCm39) E294K possibly damaging Het
Kdm4b T A 17: 56,704,355 (GRCm39) V813E probably damaging Het
Kntc1 T A 5: 123,949,439 (GRCm39) F1937I probably damaging Het
Ldb2 G A 5: 44,637,586 (GRCm39) R241W probably damaging Het
Lgr5 T C 10: 115,288,319 (GRCm39) N703S probably damaging Het
Map4k1 A T 7: 28,688,032 (GRCm39) M227L possibly damaging Het
Mbnl1 T A 3: 60,520,940 (GRCm39) M268K possibly damaging Het
Mcm2 C A 6: 88,868,708 (GRCm39) G350C probably damaging Het
Myh2 A T 11: 67,082,599 (GRCm39) T1390S possibly damaging Het
Npat T A 9: 53,469,526 (GRCm39) probably benign Het
Nr2e1 T A 10: 42,443,969 (GRCm39) D251V possibly damaging Het
Or1x2 A G 11: 50,918,162 (GRCm39) N111S probably benign Het
Or4d10 C T 19: 12,051,421 (GRCm39) V192I probably benign Het
Or5b107 C A 19: 13,142,767 (GRCm39) P130T probably damaging Het
Plekha5 T A 6: 140,470,621 (GRCm39) H87Q probably damaging Het
Polr3a A G 14: 24,529,256 (GRCm39) V368A probably damaging Het
Psmb8 T A 17: 34,419,168 (GRCm39) L154Q probably damaging Het
Rab40c A C 17: 26,103,644 (GRCm39) C140G probably damaging Het
Ranbp17 G A 11: 33,437,689 (GRCm39) T183I probably benign Het
Ruvbl2 T C 7: 45,078,122 (GRCm39) E117G probably damaging Het
Serpinb3b T A 1: 107,082,368 (GRCm39) M299L probably benign Het
Smpdl3a A G 10: 57,678,530 (GRCm39) H111R probably damaging Het
Sspo C A 6: 48,452,821 (GRCm39) P2843H probably damaging Het
Stk39 T C 2: 68,144,908 (GRCm39) T389A probably benign Het
Synrg T A 11: 83,910,531 (GRCm39) F1000Y probably benign Het
Thbs2 C T 17: 14,908,076 (GRCm39) S229N probably benign Het
Thsd1 G A 8: 22,742,247 (GRCm39) C305Y probably damaging Het
Ticrr C A 7: 79,344,297 (GRCm39) D1387E probably benign Het
Tmem145 G T 7: 25,010,816 (GRCm39) A383S probably damaging Het
Tmprss4 A G 9: 45,090,718 (GRCm39) V187A probably damaging Het
Unc13c T A 9: 73,600,524 (GRCm39) M1407L probably benign Het
Vps39 C T 2: 120,153,609 (GRCm39) G655D probably benign Het
Wwtr1 T C 3: 57,482,241 (GRCm39) probably benign Het
Xrn1 T C 9: 95,930,397 (GRCm39) S1535P probably damaging Het
Other mutations in Cops7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
rubric UTSW 6 124,937,139 (GRCm39) missense probably damaging 1.00
H8562:Cops7a UTSW 6 124,939,416 (GRCm39) unclassified probably benign
R0139:Cops7a UTSW 6 124,938,323 (GRCm39) missense probably damaging 0.98
R0242:Cops7a UTSW 6 124,941,817 (GRCm39) missense probably benign 0.00
R0242:Cops7a UTSW 6 124,941,817 (GRCm39) missense probably benign 0.00
R1121:Cops7a UTSW 6 124,939,379 (GRCm39) missense probably benign 0.00
R1662:Cops7a UTSW 6 124,939,401 (GRCm39) missense probably damaging 0.96
R1935:Cops7a UTSW 6 124,939,359 (GRCm39) nonsense probably null
R2920:Cops7a UTSW 6 124,939,325 (GRCm39) missense probably benign 0.21
R3796:Cops7a UTSW 6 124,936,795 (GRCm39) missense probably damaging 1.00
R3797:Cops7a UTSW 6 124,936,795 (GRCm39) missense probably damaging 1.00
R3799:Cops7a UTSW 6 124,936,795 (GRCm39) missense probably damaging 1.00
R3854:Cops7a UTSW 6 124,936,795 (GRCm39) missense probably damaging 1.00
R5034:Cops7a UTSW 6 124,939,583 (GRCm39) splice site probably null
R5858:Cops7a UTSW 6 124,937,134 (GRCm39) missense possibly damaging 0.82
R6477:Cops7a UTSW 6 124,937,139 (GRCm39) missense probably damaging 1.00
R6879:Cops7a UTSW 6 124,935,748 (GRCm39) splice site probably null
R8906:Cops7a UTSW 6 124,939,371 (GRCm39) missense possibly damaging 0.91
Posted On 2014-05-07