Incidental Mutation 'IGL02152:Cox4i1'
ID282093
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cox4i1
Ensembl Gene ENSMUSG00000031818
Gene Namecytochrome c oxidase subunit 4I1
SynonymsCox4, Cox4a, COXIV
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02152
Quality Score
Status
Chromosome8
Chromosomal Location120668222-120674207 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 120672865 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 72 (S72G)
Ref Sequence ENSEMBL: ENSMUSP00000138019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034276] [ENSMUST00000034277] [ENSMUST00000127664] [ENSMUST00000180417] [ENSMUST00000181333] [ENSMUST00000181334] [ENSMUST00000181586] [ENSMUST00000181795] [ENSMUST00000181847] [ENSMUST00000181950]
Predicted Effect probably benign
Transcript: ENSMUST00000034276
AA Change: S72G

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000034276
Gene: ENSMUSG00000031818
AA Change: S72G

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

DomainStartEndE-ValueType
Pfam:UPF0172 3 199 4.2e-68 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: ENSMUST00000180909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181026
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181172
Predicted Effect probably benign
Transcript: ENSMUST00000181333
SMART Domains Protein: ENSMUSP00000137785
Gene: ENSMUSG00000097919

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:UPF0172 1 101 6.8e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181402
Predicted Effect probably benign
Transcript: ENSMUST00000181586
AA Change: S72G

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000138019
Gene: ENSMUSG00000031818
AA Change: S72G

DomainStartEndE-ValueType
Pfam:COX4 26 168 3.7e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000181795
AA Change: S19G

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000138063
Gene: ENSMUSG00000031818
AA Change: S19G

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
Predicted Effect probably benign
Transcript: ENSMUST00000181950
SMART Domains Protein: ENSMUSP00000137970
Gene: ENSMUSG00000031819

DomainStartEndE-ValueType
Pfam:UPF0172 1 74 1.7e-29 PFAM
Coding Region Coverage
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016K19Rik A G 11: 76,003,225 I143V probably benign Het
1700028K03Rik A G 5: 107,548,117 T140A probably benign Het
4933430I17Rik T C 4: 62,542,754 Y289H possibly damaging Het
Adamts17 T A 7: 67,125,000 S956T probably benign Het
Adamts6 A T 13: 104,313,660 S290C probably null Het
Apaf1 A T 10: 91,061,819 H267Q probably benign Het
Aplp2 G A 9: 31,211,651 P26L unknown Het
Arid1b C T 17: 5,313,968 S1019F probably damaging Het
Armc3 G A 2: 19,286,137 probably null Het
Ass1 T C 2: 31,492,324 I169T probably damaging Het
Ccser1 A G 6: 61,311,708 D285G possibly damaging Het
Cenpf A G 1: 189,649,012 V2737A probably benign Het
Chrm5 A G 2: 112,480,568 Y68H probably damaging Het
Cops4 A G 5: 100,533,590 T164A probably benign Het
Cpox A G 16: 58,674,424 T275A possibly damaging Het
Cyb5a T C 18: 84,873,156 I68T probably benign Het
Efna5 T C 17: 62,651,060 D67G probably benign Het
Enpp3 T C 10: 24,774,002 E842G probably damaging Het
Fam208b C T 13: 3,585,371 E479K probably benign Het
Fam210b A G 2: 172,351,503 K79E probably benign Het
Gm17359 T C 3: 79,345,532 I18T possibly damaging Het
Gm4799 T C 10: 82,954,755 noncoding transcript Het
Gpr146 A T 5: 139,392,712 R90W probably damaging Het
Hal A G 10: 93,503,542 I498V possibly damaging Het
Hist1h2af A G 13: 23,534,281 H124R probably benign Het
Hnrnpm C T 17: 33,658,412 G365R probably damaging Het
Jakmip3 A G 7: 139,025,488 D407G probably damaging Het
Kank1 A G 19: 25,428,172 I1185V possibly damaging Het
Kcnj16 A T 11: 111,025,210 M233L probably benign Het
Klhl5 A T 5: 65,148,800 Q370L probably damaging Het
L3hypdh C T 12: 72,077,143 probably null Het
Las1l A G X: 95,953,302 V130A probably damaging Het
Lrp2bp A T 8: 46,023,044 Y274F probably damaging Het
Morc2b T A 17: 33,137,943 K285M probably damaging Het
Mpp3 A T 11: 102,025,390 Y45* probably null Het
Muc4 T A 16: 32,777,649 probably benign Het
Muc5ac T C 7: 141,800,177 C837R possibly damaging Het
Mum1 A G 10: 80,239,978 D466G probably damaging Het
Nr2f6 T A 8: 71,376,166 I155F probably damaging Het
Nsg1 A G 5: 38,144,801 F50L probably benign Het
Olfr304 T A 7: 86,386,043 M206L probably benign Het
Ostf1 C A 19: 18,590,458 G101C probably damaging Het
Pam C T 1: 97,840,749 R552Q probably damaging Het
Pkd1l3 A G 8: 109,669,292 N2108S probably damaging Het
Prkdc A T 16: 15,669,285 H484L probably benign Het
Rfx5 G A 3: 94,957,182 R213Q probably damaging Het
Ryr1 T C 7: 29,052,015 S3715G possibly damaging Het
Sall2 A G 14: 52,315,514 S73P probably damaging Het
Sec22c G A 9: 121,684,779 A264V probably benign Het
Sis A C 3: 72,888,986 probably benign Het
Spam1 T A 6: 24,800,803 probably benign Het
St13 T A 15: 81,366,382 I318F probably damaging Het
Syne1 T C 10: 5,424,382 I142V probably damaging Het
Trpm6 A T 19: 18,832,539 T1100S possibly damaging Het
Ttll6 G A 11: 96,135,540 W90* probably null Het
Txndc12 T A 4: 108,834,792 C9* probably null Het
Ubr7 C T 12: 102,768,276 Q270* probably null Het
Vps33b A G 7: 80,285,069 S302G probably benign Het
Xylt1 T A 7: 117,634,770 V508E probably damaging Het
Zbtb26 A T 2: 37,436,691 L111Q possibly damaging Het
Zfp410 T C 12: 84,332,928 probably benign Het
Zscan18 A T 7: 12,775,296 probably benign Het
Other mutations in Cox4i1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R2698:Cox4i1 UTSW 8 120669363 unclassified probably benign
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
Posted On2015-04-16