Incidental Mutation 'R3832:Sco1'
ID 274073
Institutional Source Beutler Lab
Gene Symbol Sco1
Ensembl Gene ENSMUSG00000069844
Gene Name SCO1 cytochrome c oxidase assembly protein
Synonyms 2610001C07Rik, D11Bwg1310e
MMRRC Submission 040887-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3832 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 66943496-66957896 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66944605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 76 (V76A)
Ref Sequence ENSEMBL: ENSMUSP00000104330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092996] [ENSMUST00000108690] [ENSMUST00000116363] [ENSMUST00000146338]
AlphaFold Q5SUC9
Predicted Effect probably damaging
Transcript: ENSMUST00000092996
AA Change: V76A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090673
Gene: ENSMUSG00000069844
AA Change: V76A

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 damaging
Transcript: ENSMUST00000108690
AA Change: V76A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104330
Gene: ENSMUSG00000069844
AA Change: V76A

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 probably benign
Transcript: ENSMUST00000116363
SMART Domains Protein: ENSMUSP00000112064
Gene: ENSMUSG00000020910

DomainStartEndE-ValueType
Pfam:Metallophos 18 282 1.8e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127407
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148379
Predicted Effect probably benign
Transcript: ENSMUST00000146338
SMART Domains Protein: ENSMUSP00000137768
Gene: ENSMUSG00000020910

DomainStartEndE-ValueType
PDB:2NXF|A 13 199 4e-47 PDB
SCOP:d1utea_ 15 176 3e-11 SMART
Meta Mutation Damage Score 0.1865 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (54/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A C 15: 94,229,339 (GRCm39) C927G probably damaging Het
Afdn T A 17: 14,116,436 (GRCm39) D190E probably benign Het
Aldh1a7 T C 19: 20,685,602 (GRCm39) Y316C probably damaging Het
Arhgef38 T C 3: 132,912,686 (GRCm39) R118G possibly damaging Het
Bcar3 A G 3: 122,220,298 (GRCm39) D65G probably damaging Het
Cacna1i T C 15: 80,240,388 (GRCm39) F370S probably damaging Het
Cacnb2 A T 2: 14,986,236 (GRCm39) I338F probably damaging Het
Cblc T C 7: 19,526,097 (GRCm39) M238V probably damaging Het
Ccdc3 A G 2: 5,233,953 (GRCm39) N259S probably benign Het
Cep55 A G 19: 38,041,560 (GRCm39) probably benign Het
Col6a1 T C 10: 76,546,951 (GRCm39) D757G unknown Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyb5d2 G T 11: 72,686,349 (GRCm39) S80R possibly damaging Het
Cyfip2 T C 11: 46,152,333 (GRCm39) D485G probably benign Het
Cyp27b1 G T 10: 126,886,929 (GRCm39) V382L probably damaging Het
Erich3 G A 3: 154,467,998 (GRCm39) V817M probably damaging Het
Gdf6 T C 4: 9,844,568 (GRCm39) S31P probably benign Het
Gtsf1 T C 15: 103,333,902 (GRCm39) I25V probably damaging Het
Hephl1 T C 9: 14,981,044 (GRCm39) E796G probably damaging Het
Iglv2 A T 16: 19,079,593 (GRCm39) M1K probably null Het
Kif26b GAAA GAA 1: 178,744,181 (GRCm39) probably null Het
Klhl28 C A 12: 64,998,195 (GRCm39) G433V probably damaging Het
Lipn T C 19: 34,046,933 (GRCm39) probably null Het
Lypd10 T A 7: 24,413,712 (GRCm39) S243T probably benign Het
Mapk7 A G 11: 61,380,680 (GRCm39) S641P possibly damaging Het
Med22 A G 2: 26,800,379 (GRCm39) S17P probably damaging Het
Or14c44 A T 7: 86,062,401 (GRCm39) Y277F probably damaging Het
Or14j5 T C 17: 38,162,071 (GRCm39) V196A probably benign Het
Otud1 G C 2: 19,662,951 (GRCm39) A27P possibly damaging Het
Pcdhga6 A T 18: 37,841,479 (GRCm39) N400Y probably damaging Het
Pdgfd T C 9: 6,359,762 (GRCm39) S278P probably damaging Het
Pdzd7 A T 19: 45,028,693 (GRCm39) V150E probably damaging Het
Peak1 T C 9: 56,165,667 (GRCm39) S754G probably benign Het
Phf14 A G 6: 11,933,873 (GRCm39) probably null Het
Phlpp1 G A 1: 106,320,327 (GRCm39) E1441K probably damaging Het
Piezo2 A G 18: 63,214,733 (GRCm39) probably null Het
Pikfyve G A 1: 65,283,579 (GRCm39) V739I probably damaging Het
Plcg1 T G 2: 160,596,357 (GRCm39) M651R possibly damaging Het
Prex2 T C 1: 11,226,588 (GRCm39) probably benign Het
Pus3 G C 9: 35,477,874 (GRCm39) G369R probably benign Het
Rab11fip1 G A 8: 27,642,774 (GRCm39) T675I probably benign Het
Scarf1 T C 11: 75,406,078 (GRCm39) C121R probably damaging Het
Slc39a8 T A 3: 135,554,894 (GRCm39) C113S probably damaging Het
Slit3 A T 11: 35,579,509 (GRCm39) S1229C probably null Het
Snd1 G T 6: 28,531,403 (GRCm39) probably benign Het
Tbc1d9 A G 8: 83,960,292 (GRCm39) S182G probably damaging Het
Tecta A C 9: 42,250,329 (GRCm39) F1816C probably damaging Het
Tekt1 T C 11: 72,245,645 (GRCm39) N170S probably benign Het
Trim47 T C 11: 115,998,783 (GRCm39) T279A probably benign Het
Ttll4 A G 1: 74,725,550 (GRCm39) K653E probably damaging Het
Vcam1 T C 3: 115,908,140 (GRCm39) T641A possibly damaging Het
Vmn1r16 A G 6: 57,300,212 (GRCm39) F137L probably benign Het
Vmn2r17 T A 5: 109,576,262 (GRCm39) W378R probably damaging Het
Zfp777 T C 6: 48,021,149 (GRCm39) T158A probably benign Het
Zp1 T C 19: 10,893,888 (GRCm39) D439G 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
R3833:Sco1 UTSW 11 66,944,605 (GRCm39) missense probably damaging 0.99
R4019:Sco1 UTSW 11 66,954,846 (GRCm39) missense probably benign
R4020: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'- GCTTTTGCAGTAGATTATAGCCATTAC -3'
(R):5'- TGCCCTCTGACCTGGAAAAC -3'

Sequencing Primer
(F):5'- GCCATTACTTATCCCCAAATAACCTG -3'
(R):5'- GGGGTAACCACTTACTTTCT -3'
Posted On 2015-04-02