Incidental Mutation 'IGL02533:Cops9'
ID297410
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cops9
Ensembl Gene ENSMUSG00000073616
Gene NameCOP9 signalosome subunit 9
SynonymsMyeov2, 1110002M09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.134) question?
Stock #IGL02533
Quality Score
Status
Chromosome1
Chromosomal Location92637145-92641985 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 92639716 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 79 (E79G)
Ref Sequence ENSEMBL: ENSMUSP00000108623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053144] [ENSMUST00000097642] [ENSMUST00000112999]
Predicted Effect probably benign
Transcript: ENSMUST00000053144
SMART Domains Protein: ENSMUSP00000061683
Gene: ENSMUSG00000044055

DomainStartEndE-ValueType
Pfam:OTOS 21 89 9.3e-42 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000097642
AA Change: E36G
SMART Domains Protein: ENSMUSP00000095247
Gene: ENSMUSG00000073616
AA Change: E36G

DomainStartEndE-ValueType
Pfam:MYEOV2 1 57 6.2e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112999
AA Change: E79G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108623
Gene: ENSMUSG00000073616
AA Change: E79G

DomainStartEndE-ValueType
low complexity region 5 20 N/A INTRINSIC
Pfam:MYEOV2 48 99 2e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129730
Predicted Effect probably benign
Transcript: ENSMUST00000148508
SMART Domains Protein: ENSMUSP00000123716
Gene: ENSMUSG00000073616

DomainStartEndE-ValueType
low complexity region 17 28 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159803
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1m2 T C 9: 21,296,501 Y396C probably damaging Het
Bach2 T C 4: 32,562,451 V306A probably benign Het
BC080695 A G 4: 143,571,002 probably benign Het
Cnga4 T C 7: 105,407,961 Y424H probably damaging Het
Crebbp T C 16: 4,107,432 N769D probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dennd4b A T 3: 90,272,310 H636L probably benign Het
Dpysl3 T C 18: 43,325,794 T632A probably benign Het
Gabbr1 C T 17: 37,072,147 R857C probably damaging Het
Gbp10 A T 5: 105,220,035 V424D probably damaging Het
Gnptg T C 17: 25,235,455 E146G possibly damaging Het
Has2 A T 15: 56,681,695 H170Q probably benign Het
Il22ra1 G A 4: 135,744,723 G190D possibly damaging Het
Lhcgr T C 17: 88,742,410 T563A probably benign Het
Mgat4b T A 11: 50,233,552 F413Y probably damaging Het
Mms22l T A 4: 24,581,099 probably benign Het
Muc19 C T 15: 91,898,047 noncoding transcript Het
Ncoa7 A C 10: 30,722,785 D47E probably damaging Het
Ncoa7 A T 10: 30,690,899 S545R possibly damaging Het
Nme1 A G 11: 93,959,431 Y142H possibly damaging Het
Olfr1104 T A 2: 87,022,353 S64C probably damaging Het
Olfr1404 A T 1: 173,216,061 M137L probably damaging Het
Olfr193 T A 16: 59,109,684 T309S probably benign Het
Per2 A G 1: 91,431,002 I587T possibly damaging Het
Pias3 A G 3: 96,699,616 D65G possibly damaging Het
Prkacb T C 3: 146,732,696 I304M possibly damaging Het
Ripor2 G T 13: 24,701,395 E538* probably null Het
Sart1 G A 19: 5,383,721 R363* probably null Het
Serpinb3a T G 1: 107,047,162 I214L probably benign Het
Spon2 C A 5: 33,214,598 C288F probably damaging Het
Tmprss11a G A 5: 86,414,527 R320C probably damaging Het
Trpm5 T A 7: 143,089,545 I22F probably benign Het
Ube3a T C 7: 59,304,832 F818L probably damaging Het
Vmn1r120 T G 7: 21,053,138 Q216P probably damaging Het
Vmn2r4 A C 3: 64,398,419 Y527* probably null Het
Zfp618 A T 4: 63,089,405 Y125F probably damaging Het
Other mutations in Cops9
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4823:Cops9 UTSW 1 92641866 unclassified probably benign
R5583:Cops9 UTSW 1 92639767 splice site probably benign
R6649:Cops9 UTSW 1 92640414 intron probably benign
Posted On2015-04-16