Incidental Mutation 'R6747:Cox4i1'
ID 530592
Institutional Source Beutler Lab
Gene Symbol Cox4i1
Ensembl Gene ENSMUSG00000031818
Gene Name cytochrome c oxidase subunit 4I1
Synonyms Cox4, Cox4a, COXIV
MMRRC Submission 044864-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6747 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 120668222-120674207 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120673230 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 31 (I31T)
Ref Sequence ENSEMBL: ENSMUSP00000138063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034276] [ENSMUST00000127664] [ENSMUST00000180417] [ENSMUST00000181586] [ENSMUST00000181795] [ENSMUST00000181847]
AlphaFold P19783
Predicted Effect possibly damaging
Transcript: ENSMUST00000034276
AA Change: I84T

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034276
Gene: ENSMUSG00000031818
AA Change: I84T

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 probably benign
Transcript: ENSMUST00000180417
SMART Domains Protein: ENSMUSP00000137767
Gene: ENSMUSG00000031819

DomainStartEndE-ValueType
Pfam:UPF0172 1 103 1.4e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180856
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181026
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181172
Predicted Effect possibly damaging
Transcript: ENSMUST00000181586
AA Change: I84T

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138019
Gene: ENSMUSG00000031818
AA Change: I84T

DomainStartEndE-ValueType
Pfam:COX4 26 168 3.7e-52 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000181795
AA Change: I31T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138063
Gene: ENSMUSG00000031818
AA Change: I31T

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
Meta Mutation Damage Score 0.6188 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency 97% (68/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 C T 3: 122,126,313 (GRCm38) probably null Het
Acyp1 C T 12: 85,278,905 (GRCm38) V107I probably null Het
Aftph T C 11: 20,726,144 (GRCm38) probably null Het
Agtpbp1 A T 13: 59,544,353 (GRCm38) probably null Het
Arhgap15 C A 2: 44,116,677 (GRCm38) P269T probably damaging Het
Arhgap30 T C 1: 171,407,729 (GRCm38) V557A probably damaging Het
Asb3 T A 11: 31,081,493 (GRCm38) M410K probably benign Het
B4galnt2 T C 11: 95,868,634 (GRCm38) probably null Het
Birc3 A G 9: 7,860,261 (GRCm38) probably null Het
Cav2 A T 6: 17,286,951 (GRCm38) N69Y probably damaging Het
Cc2d2b G A 19: 40,795,667 (GRCm38) C826Y probably benign Het
Cenpf T A 1: 189,652,854 (GRCm38) T2410S probably benign Het
Chchd1 A G 14: 20,703,380 (GRCm38) D24G probably benign Het
Cmip G A 8: 117,436,879 (GRCm38) G450S probably benign Het
Col11a1 C T 3: 114,212,450 (GRCm38) Q534* probably null Het
Col3a1 G T 1: 45,338,622 (GRCm38) probably benign Het
Cstf3 G T 2: 104,646,767 (GRCm38) V168F probably damaging Het
Dapk1 T C 13: 60,725,340 (GRCm38) I352T probably benign Het
Ddx52 T C 11: 83,955,302 (GRCm38) V456A probably damaging Het
Dmxl2 A T 9: 54,416,088 (GRCm38) H1337Q probably damaging Het
Dnah7a T C 1: 53,636,062 (GRCm38) T369A probably benign Het
Dppa1 T A 11: 46,625,595 (GRCm38) I8F unknown Het
Ebf1 G T 11: 44,883,814 (GRCm38) V213F probably damaging Het
Foxb2 C A 19: 16,872,833 (GRCm38) E270* probably null Het
Gclc A T 9: 77,788,245 (GRCm38) R450W probably damaging Het
Gm13128 T C 4: 144,332,978 (GRCm38) W420R probably benign Het
Grin2d T C 7: 45,862,268 (GRCm38) E251G probably damaging Het
Hal A T 10: 93,500,677 (GRCm38) N423Y probably damaging Het
Krtap4-8 T A 11: 99,780,091 (GRCm38) I185F unknown Het
Lrp3 T A 7: 35,211,437 (GRCm38) Q61L probably benign Het
Met A C 6: 17,571,467 (GRCm38) Q1296H probably damaging Het
Mphosph9 T A 5: 124,297,699 (GRCm38) N557I possibly damaging Het
Mrpl46 C A 7: 78,782,981 (GRCm38) W16C probably benign Het
Myh13 G A 11: 67,350,419 (GRCm38) R874Q probably damaging Het
Nelfb G A 2: 25,203,381 (GRCm38) T453I probably benign Het
Nos2 A G 11: 78,952,954 (GRCm38) D909G probably damaging Het
Nr5a2 T C 1: 136,882,344 (GRCm38) E431G possibly damaging Het
Nsmce2 A G 15: 59,591,724 (GRCm38) D149G probably benign Het
Olfr203 T C 16: 59,303,641 (GRCm38) F164L probably benign Het
Olfr690 C T 7: 105,330,027 (GRCm38) R55H probably benign Het
Pcbp4 C A 9: 106,460,648 (GRCm38) probably null Het
Peg10 A G 6: 4,757,137 (GRCm38) probably benign Het
Pms2 C T 5: 143,925,419 (GRCm38) P154L probably benign Het
Pou6f2 A C 13: 18,129,187 (GRCm38) L112R probably benign Het
Prdm6 A T 18: 53,465,046 (GRCm38) probably benign Het
Prob1 G A 18: 35,655,154 (GRCm38) R12W probably damaging Het
Rif1 T A 2: 52,078,263 (GRCm38) probably null Het
Rpl9-ps6 A G 19: 32,466,143 (GRCm38) S137P probably benign Het
Rsf1 GGCG GGCGACGGCAGCG 7: 97,579,906 (GRCm38) probably benign Homo
Sec23ip A G 7: 128,752,849 (GRCm38) silent Het
Slc38a9 T C 13: 112,690,180 (GRCm38) C151R probably benign Het
Slc39a8 T C 3: 135,849,180 (GRCm38) probably null Het
Slc6a18 C A 13: 73,677,991 (GRCm38) probably benign Het
Snw1 T C 12: 87,464,710 (GRCm38) D57G probably damaging Het
Sox6 C G 7: 115,541,731 (GRCm38) R505P probably damaging Het
Speg T C 1: 75,410,395 (GRCm38) probably null Het
Spire2 C T 8: 123,356,846 (GRCm38) R190C probably damaging Het
Stard9 A C 2: 120,698,383 (GRCm38) H1707P possibly damaging Het
Tenm3 G T 8: 48,343,243 (GRCm38) T237K probably damaging Het
Themis2 T A 4: 132,796,262 (GRCm38) E31V possibly damaging Het
Trim56 T G 5: 137,114,521 (GRCm38) Q47P probably damaging Het
Trim58 T C 11: 58,651,264 (GRCm38) I350T probably benign Het
Ttll7 C T 3: 146,944,056 (GRCm38) P639S probably benign Het
Ubxn6 A G 17: 56,070,650 (GRCm38) probably null Het
Vmn2r114 A T 17: 23,309,876 (GRCm38) F417L probably benign Het
Vmn2r29 T A 7: 7,231,422 (GRCm38) M822L probably benign Het
Vps9d1 T C 8: 123,254,007 (GRCm38) D27G probably damaging Het
Wdr3 C T 3: 100,138,724 (GRCm38) R931Q probably damaging Het
Whamm G A 7: 81,578,302 (GRCm38) probably null Het
Zcchc24 T C 14: 25,757,033 (GRCm38) H142R probably damaging Het
Zfp292 T C 4: 34,806,894 (GRCm38) K2050R probably damaging Het
Other mutations in Cox4i1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02152:Cox4i1 APN 8 120,672,865 (GRCm38) missense probably benign 0.15
R1174:Cox4i1 UTSW 8 120,674,050 (GRCm38) missense probably benign 0.41
R1276:Cox4i1 UTSW 8 120,673,350 (GRCm38) missense probably damaging 1.00
R2507:Cox4i1 UTSW 8 120,673,290 (GRCm38) missense possibly damaging 0.95
R2508:Cox4i1 UTSW 8 120,673,290 (GRCm38) missense possibly damaging 0.95
R2698:Cox4i1 UTSW 8 120,669,363 (GRCm38) unclassified probably benign
R6523:Cox4i1 UTSW 8 120,672,741 (GRCm38) missense probably benign 0.13
R7429:Cox4i1 UTSW 8 120,674,031 (GRCm38) missense probably damaging 1.00
R7430:Cox4i1 UTSW 8 120,674,031 (GRCm38) missense probably damaging 1.00
R7750:Cox4i1 UTSW 8 120,673,310 (GRCm38) missense probably benign 0.01
R8086:Cox4i1 UTSW 8 120,674,040 (GRCm38) missense probably damaging 1.00
R8709:Cox4i1 UTSW 8 120,669,371 (GRCm38) missense possibly damaging 0.95
R9028:Cox4i1 UTSW 8 120,671,283 (GRCm38) unclassified probably benign
Z1177:Cox4i1 UTSW 8 120,668,280 (GRCm38) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AGTCATGTGACCTCGTGTCTG -3'
(R):5'- CTTGGAGGCCACATAAGACC -3'

Sequencing Primer
(F):5'- TCTGAGGGCTGTGCTCAC -3'
(R):5'- GGAGGCCACATAAGACCCCAAC -3'
Posted On 2018-08-01