Incidental Mutation 'IGL00433:Ccs'
ID 332407
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccs
Ensembl Gene ENSMUSG00000034108
Gene Name copper chaperone for superoxide dismutase
Synonyms CCS, Ccsd
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.350) question?
Stock # IGL00433
Quality Score
Status
Chromosome 19
Chromosomal Location 4875394-4889326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4875636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 243 (I243T)
Ref Sequence ENSEMBL: ENSMUSP00000035486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037246]
AlphaFold Q9WU84
Predicted Effect possibly damaging
Transcript: ENSMUST00000037246
AA Change: I243T

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035486
Gene: ENSMUSG00000034108
AA Change: I243T

DomainStartEndE-ValueType
Pfam:HMA 15 72 2.4e-12 PFAM
Pfam:Sod_Cu 93 230 6.7e-43 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Copper chaperone for superoxide dismutase specifically delivers Cu to copper/zinc superoxide dismutase and may activate copper/zinc superoxide dismutase through direct insertion of the Cu cofactor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in increased sensitivity to paraquat and reduced female fertility. Ovaries of mutant female animals have reduced numbers of mature ovarian follicles and corpora lutea. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G A 15: 94,292,522 (GRCm39) A196V probably benign Het
BC024139 A G 15: 76,009,300 (GRCm39) V238A probably benign Het
Bfar G A 16: 13,516,827 (GRCm39) D350N probably benign Het
C4b A T 17: 34,961,015 (GRCm39) F217Y possibly damaging Het
Camk1g T C 1: 193,029,657 (GRCm39) probably benign Het
Camkmt A G 17: 85,404,094 (GRCm39) probably benign Het
Cass4 T C 2: 172,258,170 (GRCm39) L56P probably damaging Het
Cds2 T C 2: 132,139,213 (GRCm39) V152A probably damaging Het
Chd1l T C 3: 97,497,921 (GRCm39) N307D probably damaging Het
Cmtm2b T C 8: 105,057,078 (GRCm39) I146T possibly damaging Het
Cntnap3 T C 13: 64,920,545 (GRCm39) Y608C probably damaging Het
Cog5 A G 12: 31,735,703 (GRCm39) R157G probably damaging Het
Csmd1 A C 8: 16,281,387 (GRCm39) F713V probably damaging Het
Csrp3 T C 7: 48,480,440 (GRCm39) N175D probably benign Het
Exoc4 A G 6: 33,273,723 (GRCm39) D176G probably damaging Het
Fbxo10 T C 4: 45,058,684 (GRCm39) D351G probably damaging Het
Gm12185 A T 11: 48,798,049 (GRCm39) S815T probably benign Het
Gpld1 A G 13: 25,170,905 (GRCm39) probably benign Het
Hspa2 T C 12: 76,453,123 (GRCm39) C606R possibly damaging Het
Leo1 C T 9: 75,357,762 (GRCm39) probably benign Het
Mta3 C T 17: 84,015,861 (GRCm39) P21L probably damaging Het
Pkn1 T C 8: 84,407,635 (GRCm39) E471G probably damaging Het
Postn C T 3: 54,281,149 (GRCm39) R425C probably damaging Het
Reln A G 5: 22,250,007 (GRCm39) L676P probably damaging Het
Sin3a G A 9: 57,005,185 (GRCm39) V362M probably damaging Het
Slc6a7 C T 18: 61,134,363 (GRCm39) probably null Het
Smc6 A T 12: 11,349,264 (GRCm39) D749V possibly damaging Het
Smg5 C T 3: 88,258,735 (GRCm39) Q569* probably null Het
Sspo G A 6: 48,466,970 (GRCm39) C4130Y probably damaging Het
Tlcd3a T C 11: 76,098,817 (GRCm39) F164L probably damaging Het
Tnn A T 1: 159,925,776 (GRCm39) probably benign Het
Tomt C T 7: 101,551,393 (GRCm39) R29H probably benign Het
Uggt2 A T 14: 119,250,899 (GRCm39) D1199E probably benign Het
Usp33 A G 3: 152,079,046 (GRCm39) K433E probably benign Het
Vmn2r89 A G 14: 51,692,422 (GRCm39) Y75C probably damaging Het
Wnt7a C T 6: 91,342,973 (GRCm39) G303D probably damaging Het
Other mutations in Ccs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Ccs APN 19 4,884,269 (GRCm39) missense possibly damaging 0.95
R0128:Ccs UTSW 19 4,875,654 (GRCm39) missense probably damaging 1.00
R0928:Ccs UTSW 19 4,875,988 (GRCm39) missense probably damaging 1.00
R4300:Ccs UTSW 19 4,884,285 (GRCm39) missense probably benign 0.02
R4655:Ccs UTSW 19 4,889,232 (GRCm39) missense probably benign
R5391:Ccs UTSW 19 4,883,510 (GRCm39) missense probably benign
R5795:Ccs UTSW 19 4,883,367 (GRCm39) critical splice donor site probably null
R6054:Ccs UTSW 19 4,875,893 (GRCm39) missense probably benign 0.43
R7175:Ccs UTSW 19 4,883,390 (GRCm39) missense probably damaging 1.00
R7361:Ccs UTSW 19 4,883,378 (GRCm39) missense probably benign
R7681:Ccs UTSW 19 4,882,858 (GRCm39) splice site probably null
R8846:Ccs UTSW 19 4,883,480 (GRCm39) missense probably damaging 1.00
R9606:Ccs UTSW 19 4,882,897 (GRCm39) missense probably benign 0.02
Posted On 2015-08-05