Incidental Mutation 'R8536:Cox18'
ID 659237
Institutional Source Beutler Lab
Gene Symbol Cox18
Ensembl Gene ENSMUSG00000035505
Gene Name cytochrome c oxidase assembly protein 18
Synonyms
MMRRC Submission 067890-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.418) question?
Stock # R8536 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 90362583-90371860 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90362877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 326 (F326S)
Ref Sequence ENSEMBL: ENSMUSP00000044144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048363] [ENSMUST00000118816] [ENSMUST00000148480]
AlphaFold Q8VC74
Predicted Effect probably damaging
Transcript: ENSMUST00000048363
AA Change: F326S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000044144
Gene: ENSMUSG00000035505
AA Change: F326S

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: F327S

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113353
Gene: ENSMUSG00000035505
AA Change: F327S

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (43/43)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,217 (GRCm39) V217M probably benign Het
Abca4 A G 3: 121,973,394 (GRCm39) Q1074R probably benign Het
Ablim1 T C 19: 57,170,718 (GRCm39) probably benign Het
Acox2 A T 14: 8,256,081 (GRCm38) D79E probably benign Het
Bpifb9b A G 2: 154,158,197 (GRCm39) I440V probably benign Het
Ccdc7a T A 8: 129,516,601 (GRCm39) T118S possibly damaging Het
Cntln T C 4: 84,875,286 (GRCm39) I240T probably damaging Het
Col15a1 T C 4: 47,208,536 (GRCm39) probably null Het
Dnm1l C A 16: 16,176,639 (GRCm39) V31L probably benign Het
Dst C A 1: 34,236,327 (GRCm39) L3578M possibly damaging Het
Fbxw24 G A 9: 109,452,599 (GRCm39) T132I probably damaging Het
Fchsd1 A G 18: 38,100,823 (GRCm39) V120A probably benign Het
Fibcd1 T C 2: 31,706,643 (GRCm39) E396G probably damaging Het
Fryl G T 5: 73,257,696 (GRCm39) T702K probably damaging Het
Gatb A T 3: 85,511,868 (GRCm39) I208F probably damaging Het
Gzmd T C 14: 56,367,158 (GRCm39) I245V probably damaging Het
Lats2 G A 14: 57,940,495 (GRCm39) A119V probably damaging Het
Lztfl1 A T 9: 123,540,119 (GRCm39) F129L probably benign Het
Meak7 T C 8: 120,490,787 (GRCm39) N320S probably benign Het
Mmp2 A T 8: 93,557,253 (GRCm39) Y53F probably damaging Het
Mttp G A 3: 137,810,704 (GRCm39) R637C probably damaging Het
Ndufa8 A C 2: 35,939,312 (GRCm39) probably benign Het
Nek11 A T 9: 105,175,538 (GRCm39) M302K probably benign Het
Nek6 A G 2: 38,404,797 (GRCm39) probably null Het
Numa1 C T 7: 101,650,787 (GRCm39) A1506V probably damaging Het
Plxdc1 A T 11: 97,869,522 (GRCm39) probably null Het
Poteg C A 8: 27,938,048 (GRCm39) T6K probably benign Het
Rbm26 A T 14: 105,380,274 (GRCm39) N514K possibly damaging Het
Rnf145 T C 11: 44,450,942 (GRCm39) L422P probably damaging Het
Scn5a G T 9: 119,368,811 (GRCm39) T238K probably damaging Het
Shd G A 17: 56,283,315 (GRCm39) A315T probably damaging Het
Sirpd A G 3: 15,361,614 (GRCm39) *179R probably null Het
Slco5a1 T G 1: 12,951,525 (GRCm39) T593P possibly damaging Het
Stard9 G A 2: 120,545,140 (GRCm39) R4560H possibly damaging Het
Traf3ip3 C T 1: 192,876,823 (GRCm39) probably null Het
Trpm1 G C 7: 63,897,155 (GRCm39) K252N probably damaging Het
Ttc7b A T 12: 100,339,803 (GRCm39) I584K possibly damaging Het
Vmn1r218 T C 13: 23,321,535 (GRCm39) V214A probably benign Het
Wdfy3 G T 5: 102,033,064 (GRCm39) H2215Q probably benign Het
Wls G A 3: 159,578,748 (GRCm39) M103I probably damaging Het
Zmat4 T C 8: 24,238,523 (GRCm39) probably null Het
Zmynd15 G T 11: 70,353,387 (GRCm39) C334F probably damaging 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
PIT4585001:Cox18 UTSW 5 90,365,434 (GRCm39) missense possibly damaging 0.69
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
Predicted Primers PCR Primer
(F):5'- GGACCTAATCCTGTTCTCAGC -3'
(R):5'- GACCCATGTGTTCTCTCTAGGC -3'

Sequencing Primer
(F):5'- TTATGAATAAGGCCAGGCATCC -3'
(R):5'- AGGCGCTTGTTCTCTACTGGC -3'
Posted On 2021-01-18