Incidental Mutation 'R8086:Cox4i1'
ID 629657
Institutional Source Beutler Lab
Gene Symbol Cox4i1
Ensembl Gene ENSMUSG00000031818
Gene Name cytochrome c oxidase subunit 4I1
Synonyms COXIV, Cox4a, Cox4
MMRRC Submission 067519-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8086 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 121394964-121400948 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121400779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 148 (M148K)
Ref Sequence ENSEMBL: ENSMUSP00000034276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034276] [ENSMUST00000127664] [ENSMUST00000181586] [ENSMUST00000181795] [ENSMUST00000181847]
AlphaFold P19783
Predicted Effect probably damaging
Transcript: ENSMUST00000034276
AA Change: M148K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034276
Gene: ENSMUSG00000031818
AA Change: M148K

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 damaging
Transcript: ENSMUST00000181586
AA Change: M148K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138019
Gene: ENSMUSG00000031818
AA Change: M148K

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: 99.8%
  • 3x: 99.7%
  • 10x: 98.9%
  • 20x: 96.4%
Validation Efficiency 98% (51/52)
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
2010315B03Rik T A 9: 124,055,808 (GRCm39) H372L Het
Abcb1a A T 5: 8,724,833 (GRCm39) T89S probably benign Het
Ago1 A G 4: 126,354,774 (GRCm39) V146A probably benign Het
App T C 16: 84,917,428 (GRCm39) Y72C unknown Het
Arhgap20 T C 9: 51,760,563 (GRCm39) S805P probably benign Het
Bak1 T A 17: 27,239,911 (GRCm39) R208S probably benign Het
Btnl4 A C 17: 34,692,976 (GRCm39) probably null Het
Cacng7 T C 7: 3,387,518 (GRCm39) S134P probably benign Het
Capn9 A T 8: 125,334,692 (GRCm39) probably null Het
Ctnna1 A G 18: 35,285,713 (GRCm39) I20V possibly damaging Het
Dennd2c T A 3: 103,040,661 (GRCm39) Y309N possibly damaging Het
Dnah14 C A 1: 181,593,797 (GRCm39) T3380K probably damaging Het
Dnajc3 G T 14: 119,208,192 (GRCm39) E276* probably null Het
Dock10 C A 1: 80,481,707 (GRCm39) C1772F probably benign Het
Fank1 A T 7: 133,454,959 (GRCm39) E26D possibly damaging Het
Fcgbp G T 7: 27,813,389 (GRCm39) C2308F probably damaging Het
Fyco1 A T 9: 123,659,471 (GRCm39) M235K probably damaging Het
Gm7361 C T 5: 26,465,446 (GRCm39) R148C probably damaging Het
Hinfp C T 9: 44,210,286 (GRCm39) R183Q probably damaging Het
Hpd T C 5: 123,314,252 (GRCm39) Y221C probably benign Het
Hrnr A T 3: 93,230,728 (GRCm39) H322L unknown Het
Il6st T A 13: 112,631,094 (GRCm39) probably null Het
Impa1 T C 3: 10,387,988 (GRCm39) K145E probably benign Het
Itga9 A T 9: 118,679,869 (GRCm39) M847L probably benign Het
Itgb6 A G 2: 60,480,376 (GRCm39) V320A probably damaging Het
Lrrfip1 T A 1: 91,043,630 (GRCm39) H678Q probably benign Het
Mettl16 A G 11: 74,696,091 (GRCm39) T311A probably benign Het
Nefl T C 14: 68,323,480 (GRCm39) Y369H probably damaging Het
Or1d2 C A 11: 74,255,780 (GRCm39) P95Q probably benign Het
Pkd1 A G 17: 24,800,188 (GRCm39) Y2983C probably damaging Het
Potegl A G 2: 23,130,934 (GRCm39) probably null Het
Prr5l C T 2: 101,571,709 (GRCm39) E123K probably benign Het
Ptprq A T 10: 107,482,500 (GRCm39) Y1024* probably null Het
Ramp2 T A 11: 101,138,762 (GRCm39) L147Q probably damaging Het
Rassf1 C T 9: 107,435,173 (GRCm39) R223C probably benign Het
Rcbtb2 T C 14: 73,411,305 (GRCm39) F357L probably damaging Het
Rnf24 A G 2: 131,145,468 (GRCm39) V114A probably benign Het
Slc7a1 T G 5: 148,288,899 (GRCm39) N116T probably damaging Het
Sstr2 T C 11: 113,515,998 (GRCm39) C306R probably damaging Het
Tatdn2 T C 6: 113,686,482 (GRCm39) S697P probably damaging Het
Tmem67 T A 4: 12,040,738 (GRCm39) N935I probably damaging Het
Trp73 G A 4: 154,201,052 (GRCm39) P4S unknown Het
Vmn1r237 T G 17: 21,534,509 (GRCm39) D77E possibly damaging Het
Vmn1r238 C T 18: 3,123,250 (GRCm39) A55T probably damaging Het
Vsig10l C A 7: 43,114,876 (GRCm39) A359E possibly damaging Het
Wdr24 T C 17: 26,045,101 (GRCm39) Y279H probably damaging Het
Zbtb25 A G 12: 76,395,923 (GRCm39) V433A probably benign Het
Zfp180 C A 7: 23,805,535 (GRCm39) D651E probably benign Het
Zfp979 T C 4: 147,698,004 (GRCm39) D235G probably damaging Het
Other mutations in Cox4i1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02152:Cox4i1 APN 8 121,399,604 (GRCm39) missense probably benign 0.15
R1174:Cox4i1 UTSW 8 121,400,789 (GRCm39) missense probably benign 0.41
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
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 PCR Primer
(F):5'- ACCTTTCACAATCGAGGGAGG -3'
(R):5'- CCTTCATCTAGTGACTGCCAAAG -3'

Sequencing Primer
(F):5'- TCACAATCGAGGGAGGTTCTG -3'
(R):5'- TCTAGTGACTGCCAAAGAATGAAC -3'
Posted On 2020-06-30