Incidental Mutation 'IGL00960:Sco1'
ID28601
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sco1
Ensembl Gene ENSMUSG00000069844
Gene NameSCO1 cytochrome c oxidase assembly protein
SynonymsD11Bwg1310e, 2610001C07Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00960
Quality Score
Status
Chromosome11
Chromosomal Location67052670-67067070 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) T to C at 67064038 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Glutamine at position 290 (*290Q)
Ref Sequence ENSEMBL: ENSMUSP00000104330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092996] [ENSMUST00000108690]
Predicted Effect probably null
Transcript: ENSMUST00000092996
AA Change: *285Q
SMART Domains Protein: ENSMUSP00000090673
Gene: ENSMUSG00000069844
AA Change: *285Q

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 null
Transcript: ENSMUST00000108690
AA Change: *290Q
SMART Domains Protein: ENSMUSP00000104330
Gene: ENSMUSG00000069844
AA Change: *290Q

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
Coding Region Coverage
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C A 17: 46,323,745 R444L probably damaging Het
Baiap2 T A 11: 119,999,292 S460T possibly damaging Het
Cckar A G 5: 53,701,292 Y158H probably damaging Het
Cdk4 A G 10: 127,064,297 Y21C probably damaging Het
Entpd1 C T 19: 40,711,270 P42S probably benign Het
Epha8 A T 4: 136,951,839 probably null Het
Fastkd1 A T 2: 69,694,653 probably benign Het
Fmnl2 A G 2: 53,123,482 D951G probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kcnj5 T A 9: 32,322,423 T199S probably damaging Het
Med13 T C 11: 86,291,040 probably benign Het
Mycbp2 G T 14: 103,229,384 H1314Q possibly damaging Het
Ncapd2 A T 6: 125,173,848 S795T probably benign Het
Nf1 T C 11: 79,445,121 S1042P probably damaging Het
Nlgn1 C A 3: 25,912,697 L197F probably damaging Het
Nsun7 A G 5: 66,289,503 Y428C probably benign Het
Olfr976 A G 9: 39,956,159 Y259H probably damaging Het
Parp14 T C 16: 35,841,219 D1453G probably benign Het
Pcdhb8 A T 18: 37,355,973 I235F probably benign Het
Pclo T C 5: 14,675,220 V1364A unknown Het
Polq T C 16: 37,060,512 S734P probably damaging Het
Slc22a3 A T 17: 12,425,610 I496N probably damaging Het
Slc5a8 T G 10: 88,921,765 I539S probably benign Het
Tecta A G 9: 42,359,080 F1311L possibly damaging Het
Tex261 A T 6: 83,775,668 I19N possibly damaging Het
Tfr2 T C 5: 137,571,692 V120A probably benign Het
Vmn2r71 A T 7: 85,624,374 S799C probably damaging Het
Zar1 G A 5: 72,577,285 T197I probably damaging Het
Zfa-ps A G 10: 52,543,947 noncoding transcript Het
Other mutations in Sco1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01765:Sco1 APN 11 67053790 missense probably damaging 1.00
IGL03103:Sco1 APN 11 67055742 nonsense probably null
R2929:Sco1 UTSW 11 67063922 missense probably damaging 1.00
R3831:Sco1 UTSW 11 67053779 missense probably damaging 0.99
R3832:Sco1 UTSW 11 67053779 missense probably damaging 0.99
R3833:Sco1 UTSW 11 67053779 missense probably damaging 0.99
R4019:Sco1 UTSW 11 67064020 missense probably benign
R4020:Sco1 UTSW 11 67064020 missense probably benign
R4299:Sco1 UTSW 11 67055800 missense possibly damaging 0.84
R4541:Sco1 UTSW 11 67052842 missense probably benign 0.00
R4715:Sco1 UTSW 11 67056599 missense probably damaging 1.00
R5411:Sco1 UTSW 11 67063958 missense probably damaging 1.00
R6344:Sco1 UTSW 11 67055745 missense probably damaging 1.00
R7026:Sco1 UTSW 11 67053857 missense probably damaging 1.00
R7798:Sco1 UTSW 11 67053802 missense possibly damaging 0.67
R7819:Sco1 UTSW 11 67058393 missense probably damaging 1.00
Z1176:Sco1 UTSW 11 67063936 missense probably damaging 1.00
Posted On2013-04-17