Incidental Mutation 'R3831:Sco1'
ID 274018
Institutional Source Beutler Lab
Gene Symbol Sco1
Ensembl Gene ENSMUSG00000069844
Gene Name SCO1 cytochrome c oxidase assembly protein
Synonyms 2610001C07Rik, D11Bwg1310e
MMRRC Submission 040777-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3831 (G1)
Quality Score 225
Status Not 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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148379
Meta Mutation Damage Score 0.1865 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,880,992 (GRCm39) T527A unknown Het
Bcat1 T A 6: 144,955,834 (GRCm39) D349V probably damaging Het
Cacna1c A G 6: 118,581,424 (GRCm39) S1727P probably benign Het
Cacnb2 A T 2: 14,986,236 (GRCm39) I338F probably damaging Het
Cemip2 T G 19: 21,825,315 (GRCm39) S1204R probably damaging Het
Cibar2 T A 8: 120,901,633 (GRCm39) Y24F probably damaging 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
Dpp9 A T 17: 56,506,113 (GRCm39) F429I possibly damaging Het
Frmd4b T A 6: 97,389,486 (GRCm39) K73* probably null Het
Hao1 A T 2: 134,364,925 (GRCm39) V234D probably damaging Het
Hkdc1 T C 10: 62,235,991 (GRCm39) Y517C probably benign Het
Iglv2 A T 16: 19,079,593 (GRCm39) M1K probably null Het
Inpp5j T C 11: 3,450,229 (GRCm39) D228G probably damaging Het
Itih5 A G 2: 10,256,081 (GRCm39) D849G possibly damaging Het
Itpkb T C 1: 180,161,260 (GRCm39) V462A probably benign Het
Kif26b GAAA GAA 1: 178,744,181 (GRCm39) probably null Het
Kremen1 G GGGC 11: 5,151,794 (GRCm39) probably benign Het
Lzic G C 4: 149,573,185 (GRCm39) E112D probably null Het
Mageh1 A T X: 151,820,004 (GRCm39) W111R probably damaging Het
Mapk7 A G 11: 61,380,680 (GRCm39) S641P possibly damaging Het
Mapt A T 11: 104,177,961 (GRCm39) Q38L possibly damaging Het
Med12 C A X: 100,339,498 (GRCm39) P2037Q possibly damaging Het
Med22 A G 2: 26,800,379 (GRCm39) S17P probably damaging Het
Melk C A 4: 44,345,021 (GRCm39) Q384K probably benign Het
Morc2b C T 17: 33,356,233 (GRCm39) S513N probably benign Het
Nap1l3 A G X: 121,305,995 (GRCm39) V241A possibly damaging Het
Or2t45 T A 11: 58,669,571 (GRCm39) probably null Het
Or56a4 A G 7: 104,806,589 (GRCm39) F100S probably damaging Het
Or9e1 T G 11: 58,732,686 (GRCm39) F249V probably damaging Het
Pdgfd T C 9: 6,359,762 (GRCm39) S278P probably damaging Het
Pgc C A 17: 48,040,236 (GRCm39) F93L probably null Het
Phf14 A G 6: 11,933,873 (GRCm39) probably null Het
Pja2 T C 17: 64,616,397 (GRCm39) D166G probably benign Het
Rgs5 A G 1: 169,504,470 (GRCm39) Y40C probably benign Het
Rsad1 A G 11: 94,434,130 (GRCm39) V366A probably benign Het
S100a10 T C 3: 93,471,680 (GRCm39) V88A probably damaging Het
Scarf1 T C 11: 75,406,078 (GRCm39) C121R probably damaging Het
Scn7a A G 2: 66,528,028 (GRCm39) S821P probably damaging Het
Selp T A 1: 163,959,849 (GRCm39) C368* probably null Het
Sema3e T A 5: 14,276,496 (GRCm39) C294S probably damaging Het
Slit3 A T 11: 35,579,509 (GRCm39) S1229C probably null Het
Smarca5 A T 8: 81,455,123 (GRCm39) N199K probably damaging Het
Sorbs2 A T 8: 46,248,132 (GRCm39) D442V probably damaging Het
Specc1 T A 11: 62,008,793 (GRCm39) I183N probably damaging Het
Tcerg1 G T 18: 42,701,554 (GRCm39) R872L probably damaging Het
Tekt1 T C 11: 72,245,645 (GRCm39) N170S probably benign Het
Thsd1 T G 8: 22,733,132 (GRCm39) S60A possibly damaging Het
Usp24 T C 4: 106,219,209 (GRCm39) probably null Het
Usp28 A G 9: 48,946,938 (GRCm39) T505A probably benign Het
Zcchc17 T C 4: 130,232,317 (GRCm39) D62G probably benign Het
Zfp445 T G 9: 122,681,541 (GRCm39) E800A probably damaging Het
Zranb1 C T 7: 132,584,505 (GRCm39) A591V 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
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
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