Incidental Mutation 'R2698:Cox4i1'
Institutional Source Beutler Lab
Gene Symbol Cox4i1
Ensembl Gene ENSMUSG00000031818
Gene Namecytochrome c oxidase subunit 4I1
SynonymsCox4, Cox4a, COXIV
MMRRC Submission 040436-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R2698 (G1)
Quality Score225
Status Not validated
Chromosomal Location120668222-120674207 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) G to T at 120669363 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034276] [ENSMUST00000034277] [ENSMUST00000127664] [ENSMUST00000180417] [ENSMUST00000181333] [ENSMUST00000181334] [ENSMUST00000181586] [ENSMUST00000181795] [ENSMUST00000181847] [ENSMUST00000181950]
Predicted Effect silent
Transcript: ENSMUST00000034276
SMART Domains Protein: ENSMUSP00000034276
Gene: ENSMUSG00000031818

Pfam:COX4 28 168 2.5e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000034277
SMART Domains Protein: ENSMUSP00000034277
Gene: ENSMUSG00000031819

Pfam:UPF0172 3 199 4.2e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

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

Pfam:UPF0172 1 103 1.4e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180856
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181026
Predicted Effect probably benign
Transcript: ENSMUST00000181111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181172
Predicted Effect probably benign
Transcript: ENSMUST00000181333
SMART Domains Protein: ENSMUSP00000137785
Gene: ENSMUSG00000097919

Pfam:UPF0172 1 79 4.9e-29 PFAM
Pfam:DUF4597 93 155 2.5e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000181334
SMART Domains Protein: ENSMUSP00000137850
Gene: ENSMUSG00000031819

Pfam:UPF0172 1 101 6.8e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181402
Predicted Effect silent
Transcript: ENSMUST00000181586
SMART Domains Protein: ENSMUSP00000138019
Gene: ENSMUSG00000031818

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

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

PDB:2Y69|Q 1 35 4e-7 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000181836
Predicted Effect probably benign
Transcript: ENSMUST00000181950
SMART Domains Protein: ENSMUSP00000137970
Gene: ENSMUSG00000031819

Pfam:UPF0172 1 74 1.7e-29 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (63/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410141K09Rik A G 13: 66,433,434 S59P probably damaging Het
Abcc9 T C 6: 142,633,136 R901G possibly damaging Het
Abhd18 T A 3: 40,930,966 M262K probably benign Het
Ano2 C A 6: 125,712,346 L145I probably benign Het
Ckap5 T C 2: 91,578,081 W874R probably damaging Het
Cwc27 A T 13: 104,806,751 N94K probably damaging Het
Dcaf11 T C 14: 55,566,885 S372P probably damaging Het
Dpysl4 A G 7: 139,096,765 N356S probably damaging Het
Dusp8 A G 7: 142,081,964 probably benign Het
Erc2 G A 14: 28,271,705 V894M probably benign Het
Fbxo28 T A 1: 182,317,154 I282F probably benign Het
Fsd2 T C 7: 81,545,860 T434A probably damaging Het
Gabra4 T C 5: 71,572,078 H453R probably benign Het
Glrx T A 13: 75,839,946 probably null Het
Gm11541 A T 11: 94,695,615 L102* probably null Het
Gm5113 T A 7: 30,178,725 Y79* probably null Het
Gpr87 T A 3: 59,179,166 N306I probably damaging Het
Hydin T A 8: 110,609,929 Y5113N possibly damaging Het
Iqsec3 C T 6: 121,413,471 probably benign Het
Kbtbd8 C A 6: 95,126,589 Y406* probably null Het
Lamb1 G T 12: 31,298,883 R590L probably benign Het
Lin54 A T 5: 100,480,250 N31K probably damaging Het
Lnpk T C 2: 74,537,501 E165G probably damaging Het
Lrp4 C T 2: 91,475,212 R276C probably damaging Het
Lrrc7 T A 3: 158,135,391 T1384S probably benign Het
Mia2 T C 12: 59,170,994 probably null Het
Morc2a T C 11: 3,685,400 V797A probably damaging Het
Mrps23 T C 11: 88,205,367 probably benign Het
Muc3 A T 5: 137,146,636 I62K probably damaging Het
Nlrp4g T A 9: 124,349,630 noncoding transcript Het
Nptx1 A T 11: 119,544,843 probably benign Het
Olfr352 T A 2: 36,870,196 I210K possibly damaging Het
Pabpc1l T G 2: 164,044,382 probably null Het
Pdcd6ip A T 9: 113,674,507 probably null Het
Plcg1 A G 2: 160,761,463 T1185A possibly damaging Het
Plcxd1 A G 5: 110,102,483 Q230R probably benign Het
Psme4 T A 11: 30,874,282 probably null Het
Ptch1 T G 13: 63,524,959 E944A probably benign Het
Ptch1 T A 13: 63,542,224 N320Y probably damaging Het
Qars G A 9: 108,508,443 V60I possibly damaging Het
Rbp3 C T 14: 33,956,018 T641M probably damaging Het
Rhag T C 17: 40,836,476 S410P probably damaging Het
Rnf213 A G 11: 119,410,144 K297E probably benign Het
Rps6ka4 T C 19: 6,837,352 E294G probably benign Het
Scaf4 T A 16: 90,244,356 I695F unknown Het
Scrn2 T C 11: 97,032,296 probably benign Het
Scx T A 15: 76,458,163 C188S probably damaging Het
Sdk1 G T 5: 142,212,050 V1893L possibly damaging Het
Sema5a C A 15: 32,673,400 Q795K probably damaging Het
Slc24a3 A G 2: 145,613,567 S459G probably benign Het
Smurf1 A G 5: 144,883,562 probably benign Het
Taar4 T C 10: 23,961,430 Y313H probably damaging Het
Tmprss11c A G 5: 86,271,463 F79S probably damaging Het
Tnfaip8l2 T A 3: 95,140,361 I64F possibly damaging Het
Trbv13-1 A G 6: 41,116,438 T102A probably damaging Het
Trpa1 A T 1: 14,905,998 N160K probably damaging Het
Ttc22 A G 4: 106,639,238 Y495C probably benign Het
Usp50 A G 2: 126,778,029 I121T probably damaging Het
Vmn2r117 A G 17: 23,459,911 S780P probably damaging Het
Vmn2r66 A T 7: 84,995,399 V601D probably damaging Het
Wapl G A 14: 34,691,777 A199T probably benign Het
Zfp658 A G 7: 43,573,545 T415A possibly damaging Het
Zfp760 C T 17: 21,720,954 T9I probably damaging Het
Other mutations in Cox4i1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02152:Cox4i1 APN 8 120672865 missense probably benign 0.15
R1174:Cox4i1 UTSW 8 120674050 missense probably benign 0.41
R1276:Cox4i1 UTSW 8 120673350 missense probably damaging 1.00
R2507:Cox4i1 UTSW 8 120673290 missense possibly damaging 0.95
R2508:Cox4i1 UTSW 8 120673290 missense possibly damaging 0.95
R6523:Cox4i1 UTSW 8 120672741 missense probably benign 0.13
R6747:Cox4i1 UTSW 8 120673230 missense possibly damaging 0.95
R7429:Cox4i1 UTSW 8 120674031 missense probably damaging 1.00
R7430:Cox4i1 UTSW 8 120674031 missense probably damaging 1.00
R7750:Cox4i1 UTSW 8 120673310 missense probably benign 0.01
R8086:Cox4i1 UTSW 8 120674040 missense probably damaging 1.00
R8709:Cox4i1 UTSW 8 120669371 missense possibly damaging 0.95
Z1177:Cox4i1 UTSW 8 120668280 unclassified probably benign
Predicted Primers
Posted On2017-05-15