Incidental Mutation 'R6136:Cox11'
ID 488360
Institutional Source Beutler Lab
Gene Symbol Cox11
Ensembl Gene ENSMUSG00000020544
Gene Name cytochrome c oxidase assembly protein 11, copper chaperone
Synonyms 2010004I09Rik
MMRRC Submission 044283-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R6136 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 90528999-90535757 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90535221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 84 (L84P)
Ref Sequence ENSEMBL: ENSMUSP00000097543 (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: L224P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020851
Gene: ENSMUSG00000020544
AA Change: L224P

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: L84P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097543
Gene: ENSMUSG00000020544
AA Change: L84P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127034
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 98% (52/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik C A 4: 124,504,181 (GRCm39) G124C unknown Het
3425401B19Rik A T 14: 32,384,239 (GRCm39) D575E possibly damaging Het
Abca15 A T 7: 119,939,272 (GRCm39) H222L possibly damaging Het
Arhgef18 T C 8: 3,504,507 (GRCm39) V1013A probably benign Het
Arsj T C 3: 126,158,424 (GRCm39) M1T probably null Het
Atp10a A C 7: 58,478,088 (GRCm39) Q1377P probably benign Het
Atrip T A 9: 108,900,804 (GRCm39) E178D probably damaging Het
Cblif G A 19: 11,727,649 (GRCm39) A158T probably damaging Het
Chadl T C 15: 81,577,755 (GRCm39) N625D probably benign Het
Chrng G A 1: 87,137,523 (GRCm39) V320I probably benign Het
Dchs1 T G 7: 105,410,132 (GRCm39) T1747P probably benign Het
Dnah12 A G 14: 26,597,227 (GRCm39) K3529E probably damaging Het
Ecd T C 14: 20,370,859 (GRCm39) N620S probably damaging Het
Fbn1 T A 2: 125,245,052 (GRCm39) K278N possibly damaging Het
Fcho2 T C 13: 98,926,275 (GRCm39) K103E probably damaging Het
Fzd7 T G 1: 59,522,419 (GRCm39) F101V probably damaging Het
Galnt13 G T 2: 54,406,491 (GRCm39) probably benign Het
Gm32647 C T 7: 94,124,939 (GRCm39) Het
Gm5624 A T 14: 44,797,333 (GRCm39) D152E probably benign Het
Heatr6 T A 11: 83,663,329 (GRCm39) V664E possibly damaging Het
Hpgd A G 8: 56,747,987 (GRCm39) D36G probably damaging Het
Ifnlr1 A G 4: 135,431,108 (GRCm39) T199A possibly damaging Het
Kalrn T G 16: 34,177,481 (GRCm39) D228A probably damaging Het
Miox T C 15: 89,219,524 (GRCm39) M47T probably damaging Het
Nampt A T 12: 32,880,301 (GRCm39) I65F probably benign Het
Ncf1 T C 5: 134,255,487 (GRCm39) K135E probably damaging Het
Nop53 G A 7: 15,672,314 (GRCm39) Q452* probably null Het
Or8u10 A G 2: 85,915,245 (GRCm39) L292S probably damaging Het
Pik3cg A G 12: 32,254,358 (GRCm39) V543A probably benign Het
Ralgds T C 2: 28,440,577 (GRCm39) probably null Het
Rap1a A G 3: 105,657,598 (GRCm39) V7A probably damaging Het
Rasal1 T C 5: 120,813,543 (GRCm39) V639A possibly damaging Het
Rassf8 A G 6: 145,761,382 (GRCm39) N236S probably benign Het
Rbm47 G C 5: 66,183,626 (GRCm39) R326G probably damaging Het
Sbno1 T C 5: 124,516,554 (GRCm39) D1272G probably benign Het
Setx A G 2: 29,038,039 (GRCm39) D1508G probably benign Het
Slc1a1 T A 19: 28,882,810 (GRCm39) L358Q probably damaging Het
Slc7a12 C A 3: 14,564,186 (GRCm39) L20I probably benign Het
Spata31g1 T C 4: 42,972,853 (GRCm39) S729P probably damaging Het
Spats2l C T 1: 57,941,302 (GRCm39) T187M probably damaging Het
Specc1l A G 10: 75,082,494 (GRCm39) D647G probably benign Het
Steap4 G A 5: 8,028,562 (GRCm39) R380Q probably damaging Het
Syne2 A G 12: 75,952,099 (GRCm39) S456G probably benign Het
Tfcp2 G T 15: 100,410,194 (GRCm39) T391N probably damaging Het
Tns2 T A 15: 102,015,465 (GRCm39) D122E probably damaging Het
Tshr A G 12: 91,505,008 (GRCm39) M649V probably benign Het
Ubr3 A G 2: 69,824,107 (GRCm39) T1440A probably benign Het
Urb2 A G 8: 124,756,831 (GRCm39) D846G probably benign Het
Vmn1r202 T C 13: 22,685,632 (GRCm39) T262A possibly damaging Het
Vmn2r61 G T 7: 41,916,455 (GRCm39) W356L probably damaging Het
Wdr11 T A 7: 129,220,427 (GRCm39) M605K possibly damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L 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
R7703:Cox11 UTSW 11 90,529,245 (GRCm39) missense probably benign 0.18
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'- AGCTAGATGGTGTTTGCTCC -3'
(R):5'- CTTGGGAGCTGCTTCAATTATAGC -3'

Sequencing Primer
(F):5'- ACTCTGTAGACCAAGGCTGACTG -3'
(R):5'- GAGCTGCTTCAATTATAGCCTGGAAC -3'
Posted On 2017-10-10