Incidental Mutation 'PIT4585001:Cox18'
ID 556597
Institutional Source Beutler Lab
Gene Symbol Cox18
Ensembl Gene ENSMUSG00000035505
Gene Name cytochrome c oxidase assembly protein 18
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.376) question?
Stock # PIT4585001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 90362583-90371860 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 90365434 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8VC74
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 172,199,117 (GRCm39) M318V probably benign Het
Cacna2d1 T A 5: 16,531,342 (GRCm39) D560E probably damaging Het
Ccdc148 T A 2: 58,872,988 (GRCm39) T202S probably benign Het
Cdc42bpb T C 12: 111,271,412 (GRCm39) D1149G probably damaging Het
Clasp1 T A 1: 118,390,285 (GRCm39) N156K probably damaging Het
Cse1l A G 2: 166,783,394 (GRCm39) T783A probably damaging Het
Dnajc16 T C 4: 141,491,996 (GRCm39) Y609C probably damaging Het
Doc2g A G 19: 4,056,630 (GRCm39) T339A probably benign Het
Eif5a T C 11: 69,808,896 (GRCm39) probably benign Het
Epha3 A G 16: 63,386,940 (GRCm39) probably null Het
Esco1 A T 18: 10,594,355 (GRCm39) C310* probably null Het
Fam222a A G 5: 114,749,101 (GRCm39) Y99C probably damaging Het
Fzd2 T C 11: 102,496,573 (GRCm39) L339P probably damaging Het
Gfral A T 9: 76,104,576 (GRCm39) N145K probably damaging Het
Gga1 T A 15: 78,777,990 (GRCm39) N618K probably benign Het
Gpatch3 T A 4: 133,310,397 (GRCm39) H447Q probably damaging Het
Gpn1 A T 5: 31,666,747 (GRCm39) R346* probably null Het
Gsg1 T C 6: 135,214,558 (GRCm39) E317G probably benign Het
Gsk3b A G 16: 38,004,816 (GRCm39) N129S probably damaging Het
Hmg20b G T 10: 81,184,789 (GRCm39) D94E possibly damaging Het
Kash5 C T 7: 44,849,695 (GRCm39) G76D probably benign Het
Klhdc9 T A 1: 171,187,386 (GRCm39) H204L possibly damaging Het
Klhl24 A G 16: 19,925,638 (GRCm39) I55M probably benign Het
Kmt2c T C 5: 25,520,104 (GRCm39) D2002G probably benign Het
Lama4 A G 10: 38,950,742 (GRCm39) N1015S probably damaging Het
Lpp T C 16: 24,580,697 (GRCm39) C263R probably benign Het
Lrp1b T C 2: 41,159,216 (GRCm39) I1689V Het
Mipep C A 14: 61,022,284 (GRCm39) Q50K probably benign Het
Mx1 T C 16: 97,257,454 (GRCm39) D101G probably benign Het
Nabp2 C G 10: 128,244,676 (GRCm39) E37Q possibly damaging Het
Nme6 A G 9: 109,671,104 (GRCm39) I115V possibly damaging Het
Nup93 A T 8: 94,970,355 (GRCm39) T85S probably benign Het
Oit3 T A 10: 59,266,835 (GRCm39) I224F possibly damaging Het
Parp14 T C 16: 35,678,975 (GRCm39) K331R probably benign Het
Pls1 T A 9: 95,643,443 (GRCm39) T519S probably benign Het
Rcn3 A G 7: 44,736,118 (GRCm39) F197L probably benign Het
Rnf213 C T 11: 119,349,218 (GRCm39) T3773I Het
Rprd1b A T 2: 157,889,877 (GRCm39) I153L probably benign Het
Scel A G 14: 103,829,804 (GRCm39) D462G possibly damaging Het
Sh3bp1 C T 15: 78,794,276 (GRCm39) S548L possibly damaging Het
Sim1 T A 10: 50,860,284 (GRCm39) Y715* probably null Het
Slc18a2 A T 19: 59,282,293 (GRCm39) Q500L possibly damaging Het
Slc5a8 T G 10: 88,722,365 (GRCm39) M66R probably damaging Het
Slco1a6 T C 6: 142,055,246 (GRCm39) T233A probably damaging Het
Smu1 T C 4: 40,739,623 (GRCm39) T396A probably benign Het
Tas2r104 T C 6: 131,662,521 (GRCm39) T63A possibly damaging Het
Tasor2 G A 13: 3,624,979 (GRCm39) A1657V possibly damaging Het
Top2a C T 11: 98,892,199 (GRCm39) A1088T probably benign Het
Ucp1 T C 8: 84,020,577 (GRCm39) F129S probably damaging Het
Unc13b T A 4: 43,091,298 (GRCm39) D41E probably benign Het
Usp10 T G 8: 120,681,631 (GRCm39) V696G probably benign Het
Xylt2 C T 11: 94,557,066 (GRCm39) V745M probably damaging Het
Zbtb49 A T 5: 38,373,820 (GRCm39) N41K probably damaging Het
Zfp109 T A 7: 23,928,779 (GRCm39) D218V probably benign Het
Zfp420 G A 7: 29,575,430 (GRCm39) R550Q probably benign Het
Other mutations in Cox18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01567:Cox18 APN 5 90,365,447 (GRCm39) nonsense probably null
IGL02260:Cox18 APN 5 90,365,384 (GRCm39) missense possibly damaging 0.94
R0399:Cox18 UTSW 5 90,362,887 (GRCm39) missense probably benign 0.00
R6457:Cox18 UTSW 5 90,371,548 (GRCm39) missense probably benign 0.36
R7309:Cox18 UTSW 5 90,362,917 (GRCm39) missense possibly damaging 0.95
R8006:Cox18 UTSW 5 90,371,672 (GRCm39) missense probably damaging 0.99
R8536:Cox18 UTSW 5 90,362,877 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GTCAGGCAGTGATACAGACG -3'
(R):5'- TAGCTGGTCACAAATCCATAGG -3'

Sequencing Primer
(F):5'- GTGATACAGACGACAGTTATGCAATC -3'
(R):5'- AAATGACGTTGAGTTGCTGATCCAG -3'
Posted On 2019-06-07