Incidental Mutation 'PIT4585001:Cox18'
Institutional Source Beutler Lab
Gene Symbol Cox18
Ensembl Gene ENSMUSG00000035505
Gene Namecytochrome c oxidase assembly protein 18
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.210) question?
Stock #PIT4585001 (G1)
Quality Score225.009
Status Not validated
Chromosomal Location90214724-90224001 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 90217575 bp
Amino Acid Change Threonine to Isoleucine at position 255 (T255I)
Ref Sequence ENSEMBL: ENSMUSP00000113353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048363] [ENSMUST00000118816] [ENSMUST00000148480]
Predicted Effect possibly damaging
Transcript: ENSMUST00000048363
AA Change: T254I

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044144
Gene: ENSMUSG00000035505
AA Change: T254I

low complexity region 19 30 N/A INTRINSIC
low complexity region 32 51 N/A INTRINSIC
Pfam:60KD_IMP 78 298 1.3e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000118816
AA Change: T255I

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113353
Gene: ENSMUSG00000035505
AA Change: T255I

low complexity region 19 30 N/A INTRINSIC
low complexity region 32 51 N/A INTRINSIC
Pfam:60KD_IMP 79 296 5.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148480
SMART Domains Protein: ENSMUSP00000116430
Gene: ENSMUSG00000035505

low complexity region 19 30 N/A INTRINSIC
low complexity region 32 51 N/A INTRINSIC
Coding Region Coverage
  • 1x: 93.6%
  • 3x: 91.2%
  • 10x: 86.5%
  • 20x: 76.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aurka T C 2: 172,357,197 M318V probably benign Het
Cacna2d1 T A 5: 16,326,344 D560E probably damaging Het
Ccdc148 T A 2: 58,982,976 T202S probably benign Het
Ccdc155 C T 7: 45,200,271 G76D probably benign Het
Cdc42bpb T C 12: 111,304,978 D1149G probably damaging Het
Clasp1 T A 1: 118,462,555 N156K probably damaging Het
Cse1l A G 2: 166,941,474 T783A probably damaging Het
Dnajc16 T C 4: 141,764,685 Y609C probably damaging Het
Doc2g A G 19: 4,006,630 T339A probably benign Het
Eif5a T C 11: 69,918,070 probably benign Het
Epha3 A G 16: 63,566,577 probably null Het
Esco1 A T 18: 10,594,355 C310* probably null Het
Fam208b G A 13: 3,574,979 A1657V possibly damaging Het
Fam222a A G 5: 114,611,040 Y99C probably damaging Het
Fzd2 T C 11: 102,605,747 L339P probably damaging Het
Gfral A T 9: 76,197,294 N145K probably damaging Het
Gga1 T A 15: 78,893,790 N618K probably benign Het
Gpatch3 T A 4: 133,583,086 H447Q probably damaging Het
Gpn1 A T 5: 31,509,403 R346* probably null Het
Gsg1 T C 6: 135,237,560 E317G probably benign Het
Gsk3b A G 16: 38,184,454 N129S probably damaging Het
Hmg20b G T 10: 81,348,955 D94E possibly damaging Het
Klhdc9 T A 1: 171,359,818 H204L possibly damaging Het
Klhl24 A G 16: 20,106,888 I55M probably benign Het
Kmt2c T C 5: 25,315,106 D2002G probably benign Het
Lama4 A G 10: 39,074,746 N1015S probably damaging Het
Lpp T C 16: 24,761,947 C263R probably benign Het
Lrp1b T C 2: 41,269,204 I1689V Het
Mipep C A 14: 60,784,835 Q50K probably benign Het
Mx1 T C 16: 97,456,254 D101G probably benign Het
Nabp2 C G 10: 128,408,807 E37Q possibly damaging Het
Nme6 A G 9: 109,842,036 I115V possibly damaging Het
Nup93 A T 8: 94,243,727 T85S probably benign Het
Oit3 T A 10: 59,431,013 I224F possibly damaging Het
Parp14 T C 16: 35,858,605 K331R probably benign Het
Pls1 T A 9: 95,761,390 T519S probably benign Het
Rcn3 A G 7: 45,086,694 F197L probably benign Het
Rnf213 C T 11: 119,458,392 T3773I Het
Rprd1b A T 2: 158,047,957 I153L probably benign Het
Scel A G 14: 103,592,368 D462G possibly damaging Het
Sh3bp1 C T 15: 78,910,076 S548L possibly damaging Het
Sim1 T A 10: 50,984,188 Y715* probably null Het
Slc18a2 A T 19: 59,293,861 Q500L possibly damaging Het
Slc5a8 T G 10: 88,886,503 M66R probably damaging Het
Slco1a6 T C 6: 142,109,520 T233A probably damaging Het
Smu1 T C 4: 40,739,623 T396A probably benign Het
Tas2r104 T C 6: 131,685,558 T63A possibly damaging Het
Top2a C T 11: 99,001,373 A1088T probably benign Het
Ucp1 T C 8: 83,293,948 F129S probably damaging Het
Unc13b T A 4: 43,091,298 D41E probably benign Het
Usp10 T G 8: 119,954,892 V696G probably benign Het
Xylt2 C T 11: 94,666,240 V745M probably damaging Het
Zbtb49 A T 5: 38,216,476 N41K probably damaging Het
Zfp109 T A 7: 24,229,354 D218V probably benign Het
Zfp420 G A 7: 29,876,005 R550Q probably benign Het
Other mutations in Cox18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01567:Cox18 APN 5 90217588 nonsense probably null
IGL02260:Cox18 APN 5 90217525 missense possibly damaging 0.94
R0399:Cox18 UTSW 5 90215028 missense probably benign 0.00
R6457:Cox18 UTSW 5 90223689 missense probably benign 0.36
R7309:Cox18 UTSW 5 90215058 missense possibly damaging 0.95
R8006:Cox18 UTSW 5 90223813 missense probably damaging 0.99
R8536:Cox18 UTSW 5 90215018 missense probably damaging 0.96
Predicted Primers PCR Primer

Sequencing Primer
Posted On2019-06-07