Incidental Mutation 'R1174:Cox4i1'
ID 99817
Institutional Source Beutler Lab
Gene Symbol Cox4i1
Ensembl Gene ENSMUSG00000031818
Gene Name cytochrome c oxidase subunit 4I1
Synonyms COXIV, Cox4a, Cox4
MMRRC Submission 039247-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1174 (G1)
Quality Score 186
Status Not validated
Chromosome 8
Chromosomal Location 121394964-121400948 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 121400789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 151 (N151K)
Ref Sequence ENSEMBL: ENSMUSP00000138019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034276] [ENSMUST00000127664] [ENSMUST00000181586] [ENSMUST00000181795] [ENSMUST00000181847]
AlphaFold P19783
Predicted Effect probably benign
Transcript: ENSMUST00000034276
AA Change: N151K

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000034276
Gene: ENSMUSG00000031818
AA Change: N151K

DomainStartEndE-ValueType
Pfam:COX4 28 168 2.5e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180856
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181026
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181172
Predicted Effect probably benign
Transcript: ENSMUST00000181586
AA Change: N151K

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000138019
Gene: ENSMUSG00000031818
AA Change: N151K

DomainStartEndE-ValueType
Pfam:COX4 26 168 3.7e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000181795
SMART Domains Protein: ENSMUSP00000138063
Gene: ENSMUSG00000031818

DomainStartEndE-ValueType
Pfam:COX4 2 92 4.5e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000181847
SMART Domains Protein: ENSMUSP00000138053
Gene: ENSMUSG00000031818

DomainStartEndE-ValueType
PDB:2Y69|Q 1 35 4e-7 PDB
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit IV isoform 1 of the human mitochondrial respiratory chain enzyme. It is located at the 3' of the NOC4 (neighbor of COX4) gene in a head-to-head orientation, and shares a promoter with it. Pseudogenes related to this gene are located on chromosomes 13 and 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik T A 16: 16,935,446 (GRCm39) H214L probably benign Het
Actn3 A G 19: 4,914,784 (GRCm39) L477P probably damaging Het
Adamts12 T C 15: 11,071,843 (GRCm39) V129A probably benign Het
Agxt2 T C 15: 10,373,837 (GRCm39) F81S probably damaging Het
Alpk1 T A 3: 127,474,459 (GRCm39) S515C probably damaging Het
Aoc1l3 C A 6: 48,967,173 (GRCm39) P707H probably damaging Het
Bivm A G 1: 44,165,942 (GRCm39) T131A probably benign Het
Borcs5 T A 6: 134,687,096 (GRCm39) N150K probably damaging Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Cpeb4 T C 11: 31,870,472 (GRCm39) L432P probably damaging Het
Dnajb11 T A 16: 22,689,423 (GRCm39) D281E probably damaging Het
Eml6 A G 11: 29,699,824 (GRCm39) S1771P possibly damaging Het
Fes A T 7: 80,027,699 (GRCm39) I815N probably damaging Het
Ghrhr T A 6: 55,365,254 (GRCm39) L416* probably null Het
Glipr1l2 C A 10: 111,919,371 (GRCm39) L31I possibly damaging Het
Gm1818 A G 12: 48,602,982 (GRCm39) noncoding transcript Het
Gpr149 A G 3: 62,511,888 (GRCm39) L37P probably damaging Het
Hdac1-ps A T 17: 78,799,507 (GRCm39) Y166F probably benign Het
Hoxa9 A G 6: 52,202,693 (GRCm39) I131T probably damaging Het
Idh1 G T 1: 65,200,319 (GRCm39) N348K probably benign Het
Klf6 A G 13: 5,911,711 (GRCm39) D25G probably benign Het
Laptm4a T C 12: 8,986,716 (GRCm39) V258A probably damaging Het
Lypd6b C T 2: 49,833,609 (GRCm39) A83V possibly damaging Het
Map3k19 A G 1: 127,751,617 (GRCm39) V578A probably benign Het
Mfsd13a T A 19: 46,363,125 (GRCm39) I511N probably benign Het
Mrm3 T C 11: 76,140,850 (GRCm39) V286A probably damaging Het
Muc6 C T 7: 141,234,368 (GRCm39) G708S probably damaging Het
Neurl4 T C 11: 69,794,547 (GRCm39) probably null Het
Pclo T C 5: 14,727,660 (GRCm39) probably benign Het
Pcnt A T 10: 76,228,878 (GRCm39) probably null Het
Pik3r4 G T 9: 105,540,373 (GRCm39) G754C probably damaging Het
Qtrt1 A G 9: 21,323,782 (GRCm39) T136A probably benign Het
Rgs12 T A 5: 35,123,809 (GRCm39) C531S probably benign Het
Rin1 C A 19: 5,105,231 (GRCm39) Q764K probably benign Het
Robo4 C T 9: 37,324,348 (GRCm39) R959W probably damaging Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Serpinb9d C T 13: 33,384,608 (GRCm39) P195L probably benign Het
Sos1 A C 17: 80,753,037 (GRCm39) Y323* probably null Het
Spmip4 T A 6: 50,566,121 (GRCm39) K118M probably damaging Het
Ssxb8 T G X: 8,556,062 (GRCm39) H88P probably damaging Het
Tas2r140 T C 6: 133,031,834 (GRCm39) E308G probably benign Het
Tdo2 A T 3: 81,881,683 (GRCm39) S40R probably damaging Het
Tle4 C T 19: 14,445,626 (GRCm39) V207I probably benign Het
Txlnb A G 10: 17,718,504 (GRCm39) N445S probably benign Het
Ubap2l A T 3: 89,930,807 (GRCm39) S413T probably benign Het
Vangl2 G T 1: 171,832,353 (GRCm39) T501N probably damaging Het
Vmn2r12 A T 5: 109,240,720 (GRCm39) I131N probably benign Het
Vwa1 C T 4: 155,857,723 (GRCm39) G25D probably damaging Het
Zfp185 A T X: 72,042,929 (GRCm39) E138D possibly damaging Het
Other mutations in Cox4i1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02152:Cox4i1 APN 8 121,399,604 (GRCm39) missense probably benign 0.15
R1276:Cox4i1 UTSW 8 121,400,089 (GRCm39) missense probably damaging 1.00
R2507:Cox4i1 UTSW 8 121,400,029 (GRCm39) missense possibly damaging 0.95
R2508:Cox4i1 UTSW 8 121,400,029 (GRCm39) missense possibly damaging 0.95
R2698:Cox4i1 UTSW 8 121,396,102 (GRCm39) unclassified probably benign
R6523:Cox4i1 UTSW 8 121,399,480 (GRCm39) missense probably benign 0.13
R6747:Cox4i1 UTSW 8 121,399,969 (GRCm39) missense possibly damaging 0.95
R7429:Cox4i1 UTSW 8 121,400,770 (GRCm39) missense probably damaging 1.00
R7430:Cox4i1 UTSW 8 121,400,770 (GRCm39) missense probably damaging 1.00
R7750:Cox4i1 UTSW 8 121,400,049 (GRCm39) missense probably benign 0.01
R8086:Cox4i1 UTSW 8 121,400,779 (GRCm39) missense probably damaging 1.00
R8709:Cox4i1 UTSW 8 121,396,110 (GRCm39) missense possibly damaging 0.95
R9028:Cox4i1 UTSW 8 121,398,022 (GRCm39) unclassified probably benign
Z1177:Cox4i1 UTSW 8 121,395,019 (GRCm39) unclassified probably benign
Predicted Primers
Posted On 2014-01-15