Incidental Mutation 'R5548:Cox4i2'
ID 434971
Institutional Source Beutler Lab
Gene Symbol Cox4i2
Ensembl Gene ENSMUSG00000009876
Gene Name cytochrome c oxidase subunit 4I2
Synonyms Cox IV-2, Cox4b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R5548 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 152596093-152606957 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 152599011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 56 (T56I)
Ref Sequence ENSEMBL: ENSMUSP00000105446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010020] [ENSMUST00000109821]
AlphaFold Q91W29
Predicted Effect possibly damaging
Transcript: ENSMUST00000010020
AA Change: T56I

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000010020
Gene: ENSMUSG00000009876
AA Change: T56I

DomainStartEndE-ValueType
low complexity region 12 22 N/A INTRINSIC
Pfam:COX4 30 171 4.1e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109821
AA Change: T56I

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105446
Gene: ENSMUSG00000009876
AA Change: T56I

DomainStartEndE-ValueType
low complexity region 12 22 N/A INTRINSIC
Pfam:COX4 32 171 4.2e-55 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display lung inflammation and decreased airway responsiveness. Females show decreased lean body mass and improved glucose tolerance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik T C 10: 28,849,863 (GRCm39) D191G probably benign Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Cdh12 C T 15: 21,492,740 (GRCm39) T253I probably damaging Het
Cpsf1 A C 15: 76,481,527 (GRCm39) D1141E possibly damaging Het
Dennd5b T C 6: 148,920,847 (GRCm39) probably null Het
Dnah6 A T 6: 73,128,672 (GRCm39) D1194E probably damaging Het
Dst C A 1: 34,228,409 (GRCm39) H1676N probably benign Het
Eif4a3l1 T C 6: 136,306,568 (GRCm39) V343A probably damaging Het
Fitm1 A G 14: 55,813,154 (GRCm39) T6A probably benign Het
Galnt5 T A 2: 57,904,922 (GRCm39) V495E probably damaging Het
Gtf2h2 C A 13: 100,617,544 (GRCm39) R206L possibly damaging Het
Heatr5a A T 12: 52,005,734 (GRCm39) Y80* probably null Het
Il17ra A G 6: 120,455,434 (GRCm39) R348G probably benign Het
Mmp28 A T 11: 83,334,733 (GRCm39) Y340* probably null Het
Mrgprb8 A T 7: 48,038,778 (GRCm39) T150S probably benign Het
Ms4a10 A T 19: 10,945,484 (GRCm39) probably null Het
Muc5b A T 7: 141,417,679 (GRCm39) I3542F probably benign Het
Mybbp1a T C 11: 72,336,998 (GRCm39) L578P probably damaging Het
N4bp2l1 G A 5: 150,496,420 (GRCm39) R65* probably null Het
Nhsl3 GGTG GGTGTG 4: 129,117,773 (GRCm39) probably null Het
Nup188 T A 2: 30,216,505 (GRCm39) Y770N probably damaging Het
Or8b3b T C 9: 38,584,600 (GRCm39) I60V probably benign Het
Or8s5 T A 15: 98,238,253 (GRCm39) T206S probably benign Het
Pbrm1 T A 14: 30,827,381 (GRCm39) C1257S probably damaging Het
Pcdh8 T C 14: 80,004,942 (GRCm39) T1028A probably damaging Het
Pramel16 C T 4: 143,676,550 (GRCm39) E185K probably benign Het
Qars1 C T 9: 108,390,117 (GRCm39) P348S possibly damaging Het
Qrfpr T A 3: 36,276,075 (GRCm39) Q105L possibly damaging Het
Slc10a5 A T 3: 10,399,377 (GRCm39) Y428N probably benign Het
Slc16a5 A T 11: 115,360,630 (GRCm39) Y271F probably benign Het
Slc1a4 T A 11: 20,254,429 (GRCm39) Q479L possibly damaging Het
Slc38a1 C T 15: 96,488,355 (GRCm39) G143S probably damaging Het
Susd1 G A 4: 59,369,577 (GRCm39) T364M probably benign Het
Tmem132c T A 5: 127,628,587 (GRCm39) Y496* probably null Het
Tmem63b A G 17: 45,975,884 (GRCm39) I523T probably damaging Het
Tnrc6c T C 11: 117,651,669 (GRCm39) S1731P possibly damaging Het
Ttll3 T A 6: 113,370,078 (GRCm39) W139R probably damaging Het
Ubr4 C T 4: 139,187,401 (GRCm39) T3823M probably damaging Het
Vangl1 T A 3: 102,091,762 (GRCm39) D108V possibly damaging Het
Vmn1r120 T C 7: 20,787,482 (GRCm39) I76M probably benign Het
Wdr17 A G 8: 55,156,886 (GRCm39) Y17H probably damaging Het
Xkr4 C T 1: 3,287,153 (GRCm39) A346T probably damaging Het
Zfp267 C G 3: 36,219,640 (GRCm39) H554Q possibly damaging Het
Zfp600 T A 4: 146,133,019 (GRCm39) S562R possibly damaging Het
Other mutations in Cox4i2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01707:Cox4i2 APN 2 152,598,956 (GRCm39) missense probably damaging 1.00
IGL02066:Cox4i2 APN 2 152,602,602 (GRCm39) missense probably damaging 1.00
R5782:Cox4i2 UTSW 2 152,606,731 (GRCm39) missense probably damaging 1.00
R6922:Cox4i2 UTSW 2 152,599,015 (GRCm39) missense probably benign 0.01
R7072:Cox4i2 UTSW 2 152,602,573 (GRCm39) missense probably damaging 1.00
R7204:Cox4i2 UTSW 2 152,602,618 (GRCm39) frame shift probably null
R9669:Cox4i2 UTSW 2 152,602,610 (GRCm39) missense probably damaging 0.99
R9670:Cox4i2 UTSW 2 152,602,610 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTGAACACGGAATGTACTGC -3'
(R):5'- ATGAGGTCAGTCCAGGTGAC -3'

Sequencing Primer
(F):5'- ACGGAATGTACTGCCTGCCTG -3'
(R):5'- TCCCTTCAGACGTGGAAGTTCAG -3'
Posted On 2016-10-24