Incidental Mutation 'R7703:Cox11'
ID 594141
Institutional Source Beutler Lab
Gene Symbol Cox11
Ensembl Gene ENSMUSG00000020544
Gene Name cytochrome c oxidase assembly protein 11, copper chaperone
Synonyms 2010004I09Rik
MMRRC Submission 045764-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R7703 (G1)
Quality Score 204.009
Status Not validated
Chromosome 11
Chromosomal Location 90528999-90535757 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90529245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 77 (N77S)
Ref Sequence ENSEMBL: ENSMUSP00000020851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020851] [ENSMUST00000020858] [ENSMUST00000099960] [ENSMUST00000107872] [ENSMUST00000107875] [ENSMUST00000143203]
AlphaFold Q6P8I6
Predicted Effect probably benign
Transcript: ENSMUST00000020851
AA Change: N77S

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000020851
Gene: ENSMUSG00000020544
AA Change: N77S

DomainStartEndE-ValueType
low complexity region 42 54 N/A INTRINSIC
Pfam:CtaG_Cox11 112 262 5.5e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000020858
SMART Domains Protein: ENSMUSP00000020858
Gene: ENSMUSG00000020546

DomainStartEndE-ValueType
PDZ 29 109 6.13e-10 SMART
low complexity region 131 154 N/A INTRINSIC
coiled coil region 298 409 N/A INTRINSIC
low complexity region 504 522 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099960
SMART Domains Protein: ENSMUSP00000097543
Gene: ENSMUSG00000020544

DomainStartEndE-ValueType
Pfam:CtaG_Cox11 1 123 1.4e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107872
SMART Domains Protein: ENSMUSP00000103504
Gene: ENSMUSG00000020546

DomainStartEndE-ValueType
PDZ 29 109 6.13e-10 SMART
low complexity region 131 154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107875
SMART Domains Protein: ENSMUSP00000103507
Gene: ENSMUSG00000020546

DomainStartEndE-ValueType
PDZ 29 109 6.13e-10 SMART
low complexity region 131 154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143203
SMART Domains Protein: ENSMUSP00000116191
Gene: ENSMUSG00000020546

DomainStartEndE-ValueType
PDZ 29 109 6.13e-10 SMART
low complexity region 131 154 N/A INTRINSIC
coiled coil region 298 409 N/A INTRINSIC
WW 501 533 1.11e-10 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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 component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component 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 function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be a heme A biosynthetic enzyme involved in COX formation, according to the yeast mutant studies. However, the studies in Rhodobacter sphaeroides suggest that this gene is not required for heme A biosynthesis, but required for stable formation of the Cu(B) and magnesium centers of COX. This human protein is predicted to contain a transmembrane domain localized in the mitochondrial inner membrane. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene has been found on chromosome 6. [provided by RefSeq, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik T C 11: 58,316,593 (GRCm39) I191T probably damaging Het
2310003L06Rik T C 5: 88,120,671 (GRCm39) L476P possibly damaging Het
Aasdh T C 5: 77,035,924 (GRCm39) D387G probably damaging Het
Ahsa2 T A 11: 23,440,415 (GRCm39) T327S probably benign Het
Ap3d1 A T 10: 80,553,678 (GRCm39) V523E probably damaging Het
Baz2b C A 2: 59,747,769 (GRCm39) R1298L probably damaging Het
Cacna2d3 T C 14: 28,765,503 (GRCm39) T802A possibly damaging Het
Cdh23 G T 10: 60,173,043 (GRCm39) T1714K probably damaging Het
Chrna3 A T 9: 54,923,408 (GRCm39) D133E probably benign Het
Cnot1 C T 8: 96,486,726 (GRCm39) probably null Het
Col16a1 A T 4: 129,990,295 (GRCm39) N1396Y unknown Het
Ctsf T G 19: 4,906,567 (GRCm39) F165V probably damaging Het
Cytip A G 2: 58,037,920 (GRCm39) V148A probably damaging Het
Diaph1 T C 18: 38,023,862 (GRCm39) I659V unknown Het
Dmxl2 A T 9: 54,368,370 (GRCm39) M26K probably benign Het
Erp44 T A 4: 48,196,904 (GRCm39) I340F probably benign Het
Fam186a A G 15: 99,852,678 (GRCm39) M180T unknown Het
Frem2 C T 3: 53,429,589 (GRCm39) V2793I probably benign Het
Gm19410 A G 8: 36,266,539 (GRCm39) E1064G probably damaging Het
Gria4 T C 9: 4,503,588 (GRCm39) I343V probably benign Het
Grsf1 T A 5: 88,819,150 (GRCm39) N228Y probably damaging Het
H3c13 C A 3: 96,176,309 (GRCm39) Y100* probably null Het
Ighv1-18 A T 12: 114,646,381 (GRCm39) N74K probably benign Het
Kcnh6 A T 11: 105,914,703 (GRCm39) T703S probably benign Het
Lrp1b T A 2: 41,000,798 (GRCm39) D2256V Het
Lrrc63 T C 14: 75,360,447 (GRCm39) T352A possibly damaging Het
Lztfl1 T C 9: 123,531,194 (GRCm39) E258G probably damaging Het
Mcph1 T C 8: 18,721,122 (GRCm39) I650T possibly damaging Het
Mep1a T C 17: 43,788,997 (GRCm39) D606G possibly damaging Het
Muc16 T C 9: 18,516,578 (GRCm39) I313M Het
Myh7b A G 2: 155,462,356 (GRCm39) Y353C probably null Het
Nfatc1 A G 18: 80,725,504 (GRCm39) L420P probably damaging Het
Olfml1 A G 7: 107,170,392 (GRCm39) E93G probably damaging Het
Or6b1 A T 6: 42,814,938 (GRCm39) E41V probably damaging Het
Or8c11 A G 9: 38,289,357 (GRCm39) H54R probably benign Het
Pax1 A T 2: 147,208,034 (GRCm39) N214I probably damaging Het
Pcdhb17 C A 18: 37,619,801 (GRCm39) H530Q probably benign Het
Pcdhgb7 A T 18: 37,885,321 (GRCm39) M164L probably benign Het
Pcolce T C 5: 137,603,474 (GRCm39) N453S probably benign Het
Prr36 T C 8: 4,262,982 (GRCm39) T895A probably benign Het
Ptprq C T 10: 107,480,007 (GRCm39) V1088I probably benign Het
Rab5a T A 17: 53,807,485 (GRCm39) F174I probably damaging Het
Rapgef4 A G 2: 72,010,315 (GRCm39) D291G probably benign Het
Rbm25 A T 12: 83,721,864 (GRCm39) K683N possibly damaging Het
Rbpj T C 5: 53,803,240 (GRCm39) I156T probably damaging Het
Rgsl1 A G 1: 153,669,610 (GRCm39) S259P possibly damaging Het
Ring1 T C 17: 34,242,109 (GRCm39) D100G probably damaging Het
Ryr3 A T 2: 112,690,110 (GRCm39) D1166E probably damaging Het
Sacs A G 14: 61,443,539 (GRCm39) K1862E possibly damaging Het
Scamp5 A G 9: 57,354,465 (GRCm39) I63T possibly damaging Het
Septin14 C T 5: 129,763,092 (GRCm39) A334T possibly damaging Het
Sh3rf2 A T 18: 42,289,201 (GRCm39) Q706L probably benign Het
Skap2 A T 6: 51,884,934 (GRCm39) H242Q probably benign Het
Spmap2l T C 5: 77,164,444 (GRCm39) I149T probably benign Het
Tfpt A G 7: 3,623,744 (GRCm39) probably null Het
Thg1l T G 11: 45,846,120 (GRCm39) D58A probably damaging Het
Thyn1 A G 9: 26,918,143 (GRCm39) E177G probably benign Het
Tmem151b C T 17: 45,856,724 (GRCm39) A239T probably damaging Het
Ttc21a T C 9: 119,788,095 (GRCm39) V840A probably benign Het
Usp32 A T 11: 84,968,153 (GRCm39) V170E probably damaging Het
Vmn2r29 A G 7: 7,234,864 (GRCm39) V674A probably benign Het
Vwa8 A G 14: 79,263,513 (GRCm39) N781S probably damaging Het
Zbtb7c C A 18: 76,270,433 (GRCm39) Q174K probably benign Het
Zeb1 T C 18: 5,766,917 (GRCm39) I476T probably benign Het
Zfp91 A T 19: 12,754,241 (GRCm39) D282E probably benign Het
Other mutations in Cox11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0233:Cox11 UTSW 11 90,535,326 (GRCm39) missense probably damaging 0.99
R0233:Cox11 UTSW 11 90,535,326 (GRCm39) missense probably damaging 0.99
R0234:Cox11 UTSW 11 90,535,326 (GRCm39) missense probably damaging 0.99
R0234:Cox11 UTSW 11 90,535,326 (GRCm39) missense probably damaging 0.99
R4872:Cox11 UTSW 11 90,535,229 (GRCm39) missense probably benign 0.04
R5271:Cox11 UTSW 11 90,534,558 (GRCm39) missense probably damaging 1.00
R6136:Cox11 UTSW 11 90,535,221 (GRCm39) missense probably damaging 1.00
R8890:Cox11 UTSW 11 90,534,599 (GRCm39) missense probably damaging 1.00
R9079:Cox11 UTSW 11 90,535,246 (GRCm39) missense probably damaging 0.99
R9080:Cox11 UTSW 11 90,535,246 (GRCm39) missense probably damaging 0.99
X0003:Cox11 UTSW 11 90,531,254 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ATCTGGTAGTCAAGGCAGCAG -3'
(R):5'- TTTAGTGACCTTGGGCACGTC -3'

Sequencing Primer
(F):5'- AGGCGGGCATTCTTTCC -3'
(R):5'- TTCCCGGTCTGGATCCGAG -3'
Posted On 2019-11-12