Incidental Mutation 'R8890:Cox11'
ID 677642
Institutional Source Beutler Lab
Gene Symbol Cox11
Ensembl Gene ENSMUSG00000020544
Gene Name cytochrome c oxidase assembly protein 11, copper chaperone
Synonyms 2010004I09Rik
MMRRC Submission 068694-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R8890 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 90528999-90535757 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 90534599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 214 (I214L)
Ref Sequence ENSEMBL: ENSMUSP00000020851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020849] [ENSMUST00000020851] [ENSMUST00000099960] [ENSMUST00000107867] [ENSMUST00000107868] [ENSMUST00000107869]
AlphaFold Q6P8I6
Predicted Effect probably benign
Transcript: ENSMUST00000020849
SMART Domains Protein: ENSMUSP00000020849
Gene: ENSMUSG00000020541

DomainStartEndE-ValueType
VHS 15 150 7.37e-53 SMART
Pfam:GAT 212 288 5.8e-17 PFAM
low complexity region 340 349 N/A INTRINSIC
low complexity region 409 416 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000020851
AA Change: I214L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020851
Gene: ENSMUSG00000020544
AA Change: I214L

DomainStartEndE-ValueType
low complexity region 42 54 N/A INTRINSIC
Pfam:CtaG_Cox11 112 262 5.5e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000099960
AA Change: I74L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097543
Gene: ENSMUSG00000020544
AA Change: I74L

DomainStartEndE-ValueType
Pfam:CtaG_Cox11 1 123 1.4e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107867
SMART Domains Protein: ENSMUSP00000103499
Gene: ENSMUSG00000020541

DomainStartEndE-ValueType
Pfam:GAT 1 50 5.4e-12 PFAM
low complexity region 93 102 N/A INTRINSIC
low complexity region 162 169 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107868
SMART Domains Protein: ENSMUSP00000103500
Gene: ENSMUSG00000020541

DomainStartEndE-ValueType
Pfam:VHS 1 73 4.2e-10 PFAM
Pfam:GAT 119 220 5.5e-29 PFAM
low complexity region 263 272 N/A INTRINSIC
low complexity region 332 339 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107869
SMART Domains Protein: ENSMUSP00000103501
Gene: ENSMUSG00000020541

DomainStartEndE-ValueType
VHS 15 152 7.23e-38 SMART
low complexity region 264 273 N/A INTRINSIC
low complexity region 333 340 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (59/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik G A X: 69,437,994 (GRCm39) R100W possibly damaging Het
Acrv1 A T 9: 36,604,608 (GRCm39) M1L probably benign Het
Adam23 G A 1: 63,624,524 (GRCm39) G784D possibly damaging Het
Astl A T 2: 127,198,479 (GRCm39) M365L probably benign Het
C1ql3 T A 2: 13,015,184 (GRCm39) T159S Het
Ccser2 T G 14: 36,601,352 (GRCm39) D344A probably damaging Het
Cramp1 C T 17: 25,202,114 (GRCm39) G456D probably damaging Het
Ctsq T A 13: 61,185,502 (GRCm39) Y213F probably damaging Het
Cyp2j5 T A 4: 96,522,555 (GRCm39) I340F probably damaging Het
Efcab6 A G 15: 83,829,349 (GRCm39) F664L probably damaging Het
Eif3j2 A G 18: 43,610,276 (GRCm39) L179P probably benign Het
Fhad1 A T 4: 141,656,902 (GRCm39) M84K probably benign Het
Gabbr1 T C 17: 37,358,436 (GRCm39) V58A probably benign Het
Gabra1 T A 11: 42,024,553 (GRCm39) Y374F probably benign Het
Glt28d2 A T 3: 85,779,359 (GRCm39) V38D possibly damaging Het
Grid2 A T 6: 63,233,923 (GRCm39) H28L probably benign Het
Hat1 G A 2: 71,269,137 (GRCm39) R355K probably damaging Het
Hivep3 T C 4: 119,953,657 (GRCm39) Y658H possibly damaging Het
Hsh2d T C 8: 72,951,690 (GRCm39) F108S probably damaging Het
Il17rc G T 6: 113,456,031 (GRCm39) C292F probably damaging Het
Il31ra T C 13: 112,660,861 (GRCm39) D576G possibly damaging Het
Iqsec3 T C 6: 121,389,515 (GRCm39) D652G probably damaging Het
Kdm5a T A 6: 120,366,624 (GRCm39) S420R probably damaging Het
Klhdc7b A G 15: 89,272,888 (GRCm39) T599A probably benign Het
Lrrc8c A T 5: 105,754,954 (GRCm39) E243V probably damaging Het
Mecom A G 3: 30,006,882 (GRCm39) S714P probably damaging Het
Mindy4 T C 6: 55,255,223 (GRCm39) L567P probably benign Het
Mipep G T 14: 61,109,506 (GRCm39) A628S probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mterf3 C T 13: 67,064,676 (GRCm39) probably null Het
Myh15 C A 16: 48,959,130 (GRCm39) L1001I probably damaging Het
Myom3 G A 4: 135,541,565 (GRCm39) M1385I probably benign Het
Nbea T C 3: 55,926,784 (GRCm39) probably benign Het
Nphs1 C T 7: 30,162,080 (GRCm39) R270W probably damaging Het
Nwd1 T A 8: 73,438,484 (GRCm39) S1552T probably benign Het
Or10ag60 A T 2: 87,438,412 (GRCm39) I227F probably damaging Het
Or10j5 G A 1: 172,785,045 (GRCm39) V228M probably benign Het
Or52ae9 G T 7: 103,389,675 (GRCm39) F257L probably damaging Het
Or52r1 A T 7: 102,536,699 (GRCm39) Y220* probably null Het
Pcdh7 A T 5: 57,876,717 (GRCm39) I91F probably damaging Het
Pheta2 G T 15: 82,227,618 (GRCm39) V46F probably damaging Het
Piezo1 T C 8: 123,216,330 (GRCm39) R1394G Het
Pramel28 G T 4: 143,691,494 (GRCm39) Q410K probably benign Het
Psmd1 G A 1: 86,012,914 (GRCm39) R361Q probably damaging Het
Ralb G A 1: 119,411,246 (GRCm39) T31M probably damaging Het
Rassf4 T A 6: 116,617,305 (GRCm39) K233N probably damaging Het
Rif1 T C 2: 51,988,875 (GRCm39) F756S probably damaging Het
Rpgrip1 G A 14: 52,382,501 (GRCm39) D556N possibly damaging Het
Scai T C 2: 39,040,400 (GRCm39) probably benign Het
Scfd1 A G 12: 51,474,678 (GRCm39) T478A probably benign Het
Spag17 T A 3: 99,911,994 (GRCm39) I288N possibly damaging Het
Sult1e1 C T 5: 87,727,719 (GRCm39) V188I probably benign Het
Tmco1 A G 1: 167,143,814 (GRCm39) R82G Het
Tmem109 T C 19: 10,849,235 (GRCm39) S207G probably benign Het
Vmn2r115 A G 17: 23,578,497 (GRCm39) T657A probably damaging Het
Whamm A G 7: 81,243,640 (GRCm39) T621A probably benign Het
Zbtb40 A G 4: 136,725,897 (GRCm39) L554P probably damaging Het
Zfp131 A T 13: 120,244,338 (GRCm39) M114K probably damaging Het
Zfp532 C T 18: 65,757,404 (GRCm39) P446S probably damaging 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
R7703:Cox11 UTSW 11 90,529,245 (GRCm39) missense probably benign 0.18
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'- TGACTTAATTTAGCAGGAGGAAAGC -3'
(R):5'- CAAACACCATCTAGCTAGTGTAGG -3'

Sequencing Primer
(F):5'- CATGGCACTGGAGCTAATGTG -3'
(R):5'- CGGCCTAGTATCAATTACATATCCGG -3'
Posted On 2021-08-02