Incidental Mutation 'R0233:Cox11'
ID65957
Institutional Source Beutler Lab
Gene Symbol Cox11
Ensembl Gene ENSMUSG00000020544
Gene Namecytochrome c oxidase assembly protein 11
Synonyms
MMRRC Submission 038474-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.966) question?
Stock #R0233 (G1)
Quality Score136
Status Not validated
Chromosome11
Chromosomal Location90638173-90644931 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 90644500 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 259 (T259I)
Ref Sequence ENSEMBL: ENSMUSP00000020851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020849] [ENSMUST00000020851] [ENSMUST00000099960] [ENSMUST00000107867] [ENSMUST00000107868] [ENSMUST00000107869]
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: T259I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020851
Gene: ENSMUSG00000020544
AA Change: T259I

DomainStartEndE-ValueType
low complexity region 42 54 N/A INTRINSIC
Pfam:CtaG_Cox11 112 262 5.5e-62 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000099960
AA Change: T119I

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097543
Gene: ENSMUSG00000020544
AA Change: T119I

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
Meta Mutation Damage Score 0.9207 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.8%
  • 20x: 81.7%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,663,373 S212P probably benign Het
4932438A13Rik T A 3: 36,948,563 C1552* probably null Het
A730018C14Rik A C 12: 112,415,430 noncoding transcript Het
Acsf3 A G 8: 122,780,292 Y108C probably damaging Het
Adad1 T A 3: 37,084,948 I389N possibly damaging Het
Ankrd27 T C 7: 35,601,560 L95P probably damaging Het
Ano5 T C 7: 51,535,470 F46S possibly damaging Het
Ap2a1 T C 7: 44,915,973 N114S probably damaging Het
Arap1 C T 7: 101,400,241 S970L possibly damaging Het
Atad3a A T 4: 155,746,067 S525T probably damaging Het
Cacna2d2 A T 9: 107,514,670 I463F probably damaging Het
Casp6 T A 3: 129,905,975 N34K probably damaging Het
Ccdc175 A T 12: 72,105,876 F752I probably benign Het
Cdhr4 A G 9: 107,996,934 I76V probably benign Het
Cuzd1 C A 7: 131,311,816 K357N possibly damaging Het
Dnase2b T A 3: 146,582,550 K263N probably benign Het
Dync1h1 T A 12: 110,640,980 D2668E probably benign Het
Fam124b T C 1: 80,212,986 S227G probably damaging Het
Fgf21 T A 7: 45,615,297 M4L probably benign Het
Flg2 T A 3: 93,201,797 C377* probably null Het
Gli2 A T 1: 118,835,925 S1499T probably damaging Het
Gm13078 A T 4: 143,726,063 E21D possibly damaging Het
Gm43638 T C 5: 87,475,001 N36S probably damaging Het
Gm8909 A G 17: 36,167,469 Y224H probably benign Het
Gpx5 T A 13: 21,287,403 D210V probably damaging Het
Hoxb5 T A 11: 96,305,027 S234T probably benign Het
Irf9 C A 14: 55,606,094 N140K probably benign Het
Isg20 C T 7: 78,914,495 T50M probably damaging Het
Isg20 C A 7: 78,916,586 D94E probably damaging Het
Izumo1 T C 7: 45,624,168 L115P probably damaging Het
Krt73 A T 15: 101,802,016 N94K probably benign Het
Lgmn G T 12: 102,399,989 D247E probably damaging Het
Lilra6 C T 7: 3,914,936 V70I possibly damaging Het
Lrig3 G A 10: 126,013,526 probably null Het
Lrrc4 T C 6: 28,829,735 H627R probably benign Het
Nat9 C A 11: 115,183,408 probably null Het
Nutm2 A G 13: 50,467,405 D2G probably benign Het
Olfr1151 A G 2: 87,857,752 I192M probably benign Het
Olfr1404 A T 1: 173,216,301 I217F probably benign Het
Olfr191 A T 16: 59,085,675 D269E probably benign Het
Pdzd8 A T 19: 59,300,379 M863K probably damaging Het
Phlda3 T C 1: 135,766,821 S125P probably damaging Het
Pkd1l3 A T 8: 109,650,780 R217* probably null Het
Plekhg5 T C 4: 152,112,219 C695R probably damaging Het
Pyroxd1 A G 6: 142,354,630 E162G possibly damaging Het
R3hcc1l G A 19: 42,582,921 probably null Het
Rgs12 T A 5: 35,030,498 S500T probably damaging Het
Ripor3 T C 2: 167,992,598 D299G probably damaging Het
Robo4 T C 9: 37,402,681 L76P probably damaging Het
Sbno1 T C 5: 124,376,226 Y1302C probably damaging Het
Sec63 A G 10: 42,823,908 I655V possibly damaging Het
Serpina11 T A 12: 103,980,470 M389L probably benign Het
Sfswap C A 5: 129,554,543 P745Q possibly damaging Het
Slitrk3 C T 3: 73,048,577 S954N probably benign Het
Sorbs2 A G 8: 45,769,829 T190A probably damaging Het
Sos2 A T 12: 69,617,330 I460N probably benign Het
Spink7 T A 18: 62,594,352 I34L probably benign Het
Srbd1 A G 17: 86,057,745 S628P probably damaging Het
Srm G A 4: 148,593,372 G156S probably damaging Het
Tmc4 T A 7: 3,666,867 Y6F probably benign Het
Tmcc2 A G 1: 132,360,651 F433L probably damaging Het
Tnxb T C 17: 34,699,033 F2307L probably benign Het
Tsr3 A G 17: 25,242,510 E274G probably benign Het
Ttn T C 2: 76,895,144 probably benign Het
Tub T C 7: 109,029,341 V352A possibly damaging Het
Tubb2a A G 13: 34,075,342 I155T possibly damaging Het
Usp13 T A 3: 32,915,664 probably null Het
Vmn1r52 T G 6: 90,179,611 L120R possibly damaging Het
Vmn2r11 A T 5: 109,054,102 S179T probably benign Het
Vwf A T 6: 125,686,510 R2805W possibly damaging Het
Zfp286 T C 11: 62,780,393 T285A possibly damaging Het
Other mutations in Cox11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0233:Cox11 UTSW 11 90644500 missense probably damaging 0.99
R0234:Cox11 UTSW 11 90644500 missense probably damaging 0.99
R0234:Cox11 UTSW 11 90644500 missense probably damaging 0.99
R4872:Cox11 UTSW 11 90644403 missense probably benign 0.04
R5271:Cox11 UTSW 11 90643732 missense probably damaging 1.00
R6136:Cox11 UTSW 11 90644395 missense probably damaging 1.00
R7703:Cox11 UTSW 11 90638419 missense probably benign 0.18
X0003:Cox11 UTSW 11 90640428 missense probably benign 0.04
Predicted Primers
Posted On2013-08-19