Incidental Mutation 'R0928:Ccs'
ID80703
Institutional Source Beutler Lab
Gene Symbol Ccs
Ensembl Gene ENSMUSG00000034108
Gene Namecopper chaperone for superoxide dismutase
SynonymsCCS, Ccsd
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.277) question?
Stock #R0928 (G1)
Quality Score225
Status Not validated
Chromosome19
Chromosomal Location4825366-4839322 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 4825960 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 184 (E184G)
Ref Sequence ENSEMBL: ENSMUSP00000035486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037246]
Predicted Effect probably damaging
Transcript: ENSMUST00000037246
AA Change: E184G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000035486
Gene: ENSMUSG00000034108
AA Change: E184G

DomainStartEndE-ValueType
Pfam:HMA 15 72 2.4e-12 PFAM
Pfam:Sod_Cu 93 230 6.7e-43 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.1%
  • 10x: 93.0%
  • 20x: 75.6%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik T C 1: 37,624,582 D745G possibly damaging Het
4931406P16Rik A T 7: 34,248,246 probably null Het
Abca12 T A 1: 71,349,174 D179V probably benign Het
Abcc1 T C 16: 14,389,985 probably null Het
Adad1 G A 3: 37,076,740 probably null Het
Apobec4 T C 1: 152,756,277 Y19H probably damaging Het
Bco2 T A 9: 50,545,931 T104S probably damaging Het
Bnc1 A G 7: 81,973,502 V659A probably benign Het
Ccdc144b A C 3: 36,025,366 N258K possibly damaging Het
Cfap70 T G 14: 20,443,919 K97N probably damaging Het
Daam2 T C 17: 49,488,227 I313V probably benign Het
Dach1 T C 14: 97,915,832 S467G probably damaging Het
Dnah11 A G 12: 118,045,562 S2122P probably damaging Het
Dnah3 T A 7: 120,030,051 D1427V probably damaging Het
Dnaic1 T C 4: 41,602,566 F97L possibly damaging Het
Dsc1 A T 18: 20,110,249 probably null Het
En2 A T 5: 28,170,331 K291* probably null Het
Eps15 T C 4: 109,312,963 V154A possibly damaging Het
Etnk1 A G 6: 143,184,703 I183V probably benign Het
Fcrlb A T 1: 170,907,940 V255D possibly damaging Het
Fry A T 5: 150,437,084 E52V probably damaging Het
Gm8251 C A 1: 44,057,228 S1570I possibly damaging Het
Gtf2h4 T C 17: 35,670,885 Y152C probably damaging Het
Hao1 C A 2: 134,505,616 L256F possibly damaging Het
Helz T A 11: 107,626,693 I685K probably damaging Het
Hjurp GT GTT 1: 88,266,524 probably null Het
Izumo2 A T 7: 44,715,423 I171F possibly damaging Het
Krt83 C A 15: 101,491,280 C57F probably benign Het
Mapkbp1 A G 2: 120,015,368 H400R probably benign Het
Megf6 T A 4: 154,177,047 V43E probably damaging Het
Mut T C 17: 40,937,283 I67T probably benign Het
Ninl A T 2: 150,963,475 V396E probably damaging Het
Nvl A T 1: 181,093,902 V844E probably benign Het
Olfr11 C T 13: 21,638,956 C189Y probably damaging Het
P2rx3 A T 2: 85,035,298 M1K probably null Het
Pabpn1l T C 8: 122,622,619 T20A probably benign Het
Ppp3r2 C A 4: 49,681,439 probably null Het
Prmt6 C T 3: 110,250,682 G97D probably damaging Het
Prmt9 T C 8: 77,581,176 V823A probably damaging Het
Skint11 C A 4: 114,244,601 D79E possibly damaging Het
Slc17a8 T A 10: 89,598,683 H194L probably damaging Het
Slco6c1 T A 1: 97,104,848 I293F possibly damaging Het
Tcl1b4 A T 12: 105,202,606 H43L probably benign Het
Tm9sf1 T C 14: 55,636,457 D528G probably damaging Het
Tpbpb C T 13: 60,902,175 V47I probably benign Het
Ttc37 T G 13: 76,113,592 L142W probably damaging Het
Ttn G T 2: 76,907,532 probably benign Het
Usp28 T G 9: 49,030,891 S341A possibly damaging Het
Vwa5a T C 9: 38,728,007 Y345H probably damaging Het
Wdr11 C A 7: 129,606,653 D377E probably damaging Het
Zer1 A G 2: 30,101,763 probably null Het
Other mutations in Ccs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Ccs APN 19 4825608 missense possibly damaging 0.94
IGL01543:Ccs APN 19 4834241 missense possibly damaging 0.95
R0128:Ccs UTSW 19 4825626 missense probably damaging 1.00
R4300:Ccs UTSW 19 4834257 missense probably benign 0.02
R4655:Ccs UTSW 19 4839204 missense probably benign
R5391:Ccs UTSW 19 4833482 missense probably benign
R5795:Ccs UTSW 19 4833339 critical splice donor site probably null
R6054:Ccs UTSW 19 4825865 missense probably benign 0.43
R7175:Ccs UTSW 19 4833362 missense probably damaging 1.00
R7361:Ccs UTSW 19 4833350 missense probably benign
R7681:Ccs UTSW 19 4832830 splice site probably null
Predicted Primers PCR Primer
(F):5'- GTGCAATGATGCCACAGGCCAA -3'
(R):5'- GTGGCTTTCTGCCCAGGATTTCA -3'

Sequencing Primer
(F):5'- GTGTGATCAGCAAAAGGCTCTTC -3'
(R):5'- TTTCCCCTATGGGGTCTCAT -3'
Posted On2013-11-07