Incidental Mutation 'R4300:Ccs'
ID 322399
Institutional Source Beutler Lab
Gene Symbol Ccs
Ensembl Gene ENSMUSG00000034108
Gene Name copper chaperone for superoxide dismutase
Synonyms CCS, Ccsd
MMRRC Submission 041657-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.305) question?
Stock # R4300 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 4875394-4889326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4884285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 56 (T56A)
Ref Sequence ENSEMBL: ENSMUSP00000035486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037246]
AlphaFold Q9WU84
Predicted Effect probably benign
Transcript: ENSMUST00000037246
AA Change: T56A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000035486
Gene: ENSMUSG00000034108
AA Change: T56A

DomainStartEndE-ValueType
Pfam:HMA 15 72 2.4e-12 PFAM
Pfam:Sod_Cu 93 230 6.7e-43 PFAM
Meta Mutation Damage Score 0.0807 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (40/40)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik T A 3: 146,356,675 (GRCm39) R78* probably null Het
A2m G A 6: 121,650,434 (GRCm39) V1181I probably benign Het
Cacna1b T C 2: 24,525,251 (GRCm39) S1639G probably damaging Het
Cd177 T C 7: 24,449,845 (GRCm39) I547V possibly damaging Het
Ckmt2 C A 13: 92,011,457 (GRCm39) probably null Het
Cyth1 A G 11: 118,074,720 (GRCm39) F180L probably damaging Het
Dip2c A G 13: 9,660,747 (GRCm39) I840M probably damaging Het
Gm37150 G A 9: 72,292,758 (GRCm39) noncoding transcript Het
Herc1 A G 9: 66,396,688 (GRCm39) D4255G probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnn4 G T 7: 24,077,029 (GRCm39) V193L probably benign Het
Lrrc8d G A 5: 105,961,606 (GRCm39) R672Q probably damaging Het
Mboat2 A G 12: 25,009,082 (GRCm39) N463D probably benign Het
Mtfr1 T A 3: 19,269,621 (GRCm39) probably null Het
Or10g6 A C 9: 39,934,435 (GRCm39) I249L probably benign Het
Or5h24 T C 16: 58,918,641 (GRCm39) Y238C unknown Het
Pcnt G C 10: 76,203,225 (GRCm39) R2626G probably benign Het
Pik3cg A G 12: 32,226,671 (GRCm39) I1072T probably damaging Het
Prc1 G A 7: 79,960,964 (GRCm39) probably benign Het
Psph G T 5: 129,864,529 (GRCm39) probably null Het
Rfx4 T C 10: 84,740,966 (GRCm39) Y601H probably damaging Het
Rmc1 A G 18: 12,321,919 (GRCm39) N513D probably benign Het
Setd5 T G 6: 113,127,123 (GRCm39) V1249G probably damaging Het
Sirpb1b A T 3: 15,613,821 (GRCm39) I87K probably damaging Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Spata31 A T 13: 65,067,575 (GRCm39) H79L probably benign Het
Srbd1 C A 17: 86,292,632 (GRCm39) R979L probably damaging Het
Stox2 A T 8: 47,647,027 (GRCm39) Y208* probably null Het
Sun1 A T 5: 139,213,349 (GRCm39) probably benign Het
Tfap4 T C 16: 4,369,224 (GRCm39) D132G probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Tubgcp3 G T 8: 12,707,600 (GRCm39) P130T probably damaging Het
Txlnb A G 10: 17,703,673 (GRCm39) E277G probably damaging Het
Other mutations in Ccs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Ccs APN 19 4,875,636 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer
(F):5'- GGGAAGGAATCTCACATAACTCTC -3'
(R):5'- GGAAGCTTCCAGGTTTACCTC -3'

Sequencing Primer
(F):5'- GGAATCTCACATAACTCTCCTGACTC -3'
(R):5'- CCAGGTTTACCTCTGGCCATATAAAG -3'
Posted On 2015-06-20