Incidental Mutation 'R4020:Sco1'
ID 312744
Institutional Source Beutler Lab
Gene Symbol Sco1
Ensembl Gene ENSMUSG00000069844
Gene Name SCO1 cytochrome c oxidase assembly protein
Synonyms 2610001C07Rik, D11Bwg1310e
MMRRC Submission 040954-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4020 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 66943496-66957896 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 66954846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 284 (S284A)
Ref Sequence ENSEMBL: ENSMUSP00000104330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092996] [ENSMUST00000108690]
AlphaFold Q5SUC9
Predicted Effect probably benign
Transcript: ENSMUST00000092996
AA Change: S279A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000090673
Gene: ENSMUSG00000069844
AA Change: S279A

DomainStartEndE-ValueType
low complexity region 50 67 N/A INTRINSIC
Pfam:SCO1-SenC 81 265 1.5e-48 PFAM
Pfam:AhpC-TSA 118 250 9.8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108690
AA Change: S284A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104330
Gene: ENSMUSG00000069844
AA Change: S284A

DomainStartEndE-ValueType
low complexity region 50 67 N/A INTRINSIC
Pfam:SCO1-SenC 91 270 2.4e-49 PFAM
Pfam:AhpC-TSA 125 254 7.6e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137779
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele knocked out in the liver exhibit weight loss, premature death, spleen atrophy, reduced white blood cells, increased mitochondria proliferation, increased iron levels in the liver and spleen, and decreased copper levels in the liver and kidney. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy7 G C 8: 89,035,362 (GRCm39) V89L probably benign Het
Aebp2 T A 6: 140,588,021 (GRCm39) S364T probably damaging Het
Akr1b10 C T 6: 34,369,388 (GRCm39) T206I probably benign Het
Ap4e1 C T 2: 126,903,846 (GRCm39) S916F probably benign Het
Apob C T 12: 8,044,914 (GRCm39) Q845* probably null Het
Asb4 A G 6: 5,390,803 (GRCm39) probably benign Het
Bltp1 A G 3: 37,066,724 (GRCm39) probably benign Het
C1ra A T 6: 124,496,736 (GRCm39) T391S probably benign Het
Catsperg2 C A 7: 29,416,429 (GRCm39) D328Y probably damaging Het
Ciapin1 G T 8: 95,555,814 (GRCm39) L119M probably damaging Het
Crhr2 A G 6: 55,077,765 (GRCm39) probably benign Het
Cyp2j6 A G 4: 96,406,407 (GRCm39) S455P probably benign Het
Dctn4 G A 18: 60,671,329 (GRCm39) probably benign Het
Defa25 C T 8: 21,575,245 (GRCm39) R75C probably benign Het
Dnajc10 T C 2: 80,175,296 (GRCm39) L561P probably damaging Het
Dnajc7 A T 11: 100,482,292 (GRCm39) F185L probably damaging Het
Dock9 T C 14: 121,844,267 (GRCm39) I1175V probably benign Het
Drosha T G 15: 12,837,422 (GRCm39) L302R possibly damaging Het
Efcab5 C T 11: 76,994,930 (GRCm39) V1214I probably benign Het
Erich3 G A 3: 154,419,686 (GRCm39) R260H probably damaging Het
Fam168b T C 1: 34,867,860 (GRCm39) T47A possibly damaging Het
Gorasp1 G A 9: 119,757,936 (GRCm39) R290C probably benign Het
Gtf2a1 A G 12: 91,539,351 (GRCm39) S94P possibly damaging Het
Ighv1-53 C T 12: 115,122,442 (GRCm39) C5Y probably benign Het
Impdh1 T C 6: 29,202,693 (GRCm39) I446V probably benign Het
Krtap5-1 T C 7: 141,850,094 (GRCm39) probably null Het
Lipo3 T A 19: 33,764,804 (GRCm39) I17L probably benign Het
Lrrc37 A G 11: 103,506,119 (GRCm39) S1950P probably benign Het
Lss T C 10: 76,383,278 (GRCm39) M526T probably damaging Het
Med12l A C 3: 59,155,363 (GRCm39) Q1181P probably damaging Het
Mtrf1l T C 10: 5,767,454 (GRCm39) T221A probably benign Het
Muc21 T C 17: 35,930,953 (GRCm39) probably benign Het
Mxi1 C A 19: 53,360,160 (GRCm39) A294E probably benign Het
Naip5 T C 13: 100,359,883 (GRCm39) E451G probably benign Het
Naip5 T C 13: 100,359,902 (GRCm39) I445V probably benign Het
Nfrkb T A 9: 31,325,407 (GRCm39) L950Q possibly damaging Het
Nherf4 A T 9: 44,162,117 (GRCm39) probably null Het
Oplah A G 15: 76,181,476 (GRCm39) Y1155H probably damaging Het
Or5b105 T G 19: 13,079,790 (GRCm39) K287Q probably damaging Het
Pcnx1 C T 12: 81,965,018 (GRCm39) T395I probably damaging Het
Pitrm1 A G 13: 6,606,723 (GRCm39) H259R probably damaging Het
Pllp C A 8: 95,406,072 (GRCm39) M70I possibly damaging Het
Pop1 A G 15: 34,508,926 (GRCm39) T334A probably benign Het
Prep T C 10: 44,968,894 (GRCm39) probably benign Het
Ptprz1 C A 6: 22,959,623 (GRCm39) probably benign Het
Sbsn A G 7: 30,455,390 (GRCm39) S170G probably damaging Het
Slc25a10 T A 11: 120,388,265 (GRCm39) M227K probably damaging Het
Trav7-6 A G 14: 53,954,638 (GRCm39) K56R probably benign Het
Ubr4 T G 4: 139,179,116 (GRCm39) C3322G probably damaging Het
Unc5a T C 13: 55,151,182 (GRCm39) Y608H probably damaging Het
Zfand1 A C 3: 10,405,816 (GRCm39) N262K probably benign Het
Zfp335 C T 2: 164,743,380 (GRCm39) R536H probably damaging Het
Other mutations in Sco1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00960:Sco1 APN 11 66,954,864 (GRCm39) makesense probably null
IGL01765:Sco1 APN 11 66,944,616 (GRCm39) missense probably damaging 1.00
IGL03103:Sco1 APN 11 66,946,568 (GRCm39) nonsense probably null
R2929:Sco1 UTSW 11 66,954,748 (GRCm39) missense probably damaging 1.00
R3831:Sco1 UTSW 11 66,944,605 (GRCm39) missense probably damaging 0.99
R3832:Sco1 UTSW 11 66,944,605 (GRCm39) missense probably damaging 0.99
R3833:Sco1 UTSW 11 66,944,605 (GRCm39) missense probably damaging 0.99
R4019:Sco1 UTSW 11 66,954,846 (GRCm39) missense probably benign
R4299:Sco1 UTSW 11 66,946,626 (GRCm39) missense possibly damaging 0.84
R4541:Sco1 UTSW 11 66,943,668 (GRCm39) missense probably benign 0.00
R4715:Sco1 UTSW 11 66,947,425 (GRCm39) missense probably damaging 1.00
R5411:Sco1 UTSW 11 66,954,784 (GRCm39) missense probably damaging 1.00
R6344:Sco1 UTSW 11 66,946,571 (GRCm39) missense probably damaging 1.00
R7026:Sco1 UTSW 11 66,944,683 (GRCm39) missense probably damaging 1.00
R7798:Sco1 UTSW 11 66,944,628 (GRCm39) missense possibly damaging 0.67
R7819:Sco1 UTSW 11 66,949,219 (GRCm39) missense probably damaging 1.00
R9758:Sco1 UTSW 11 66,949,250 (GRCm39) missense probably damaging 1.00
Z1176:Sco1 UTSW 11 66,954,762 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGAACTGCTGTGGTTACTTAC -3'
(R):5'- TAGTTTCCTGGCAGACTGGG -3'

Sequencing Primer
(F):5'- GAACTGCTGTGGTTACTTACATACTG -3'
(R):5'- CAGACTGGGTTGGCTGAGC -3'
Posted On 2015-04-30