Incidental Mutation 'R1705:Cox14'
ID 190040
Institutional Source Beutler Lab
Gene Symbol Cox14
Ensembl Gene ENSMUSG00000023020
Gene Name cytochrome c oxidase assembly protein 14
Synonyms 2310016M24Rik
MMRRC Submission 039738-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # R1705 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 99623499-99626017 bp(+) (GRCm39)
Type of Mutation splice site (3886 bp from exon)
DNA Base Change (assembly) A to G at 99625559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023760] [ENSMUST00000023761] [ENSMUST00000162194]
AlphaFold Q8BH51
Predicted Effect probably null
Transcript: ENSMUST00000023760
SMART Domains Protein: ENSMUSP00000023760
Gene: ENSMUSG00000023019

DomainStartEndE-ValueType
Pfam:NAD_Gly3P_dh_N 5 174 6.2e-57 PFAM
Pfam:NAD_Gly3P_dh_C 193 340 8.5e-52 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000023761
AA Change: D9G

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023761
Gene: ENSMUSG00000023020
AA Change: D9G

DomainStartEndE-ValueType
Pfam:COX14 1 55 1.4e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161529
Predicted Effect probably null
Transcript: ENSMUST00000162194
SMART Domains Protein: ENSMUSP00000125164
Gene: ENSMUSG00000023019

DomainStartEndE-ValueType
Pfam:NAD_Gly3P_dh_N 5 77 3.6e-21 PFAM
Pfam:NAD_Gly3P_dh_N 71 151 1.9e-22 PFAM
Pfam:NAD_Gly3P_dh_C 169 319 4.2e-60 PFAM
Meta Mutation Damage Score 0.7106 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 90% (43/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Apaf1 A G 10: 90,903,133 (GRCm39) probably benign Het
C1ql2 A G 1: 120,270,271 (GRCm39) T278A probably damaging Het
Card14 A G 11: 119,229,232 (GRCm39) H714R possibly damaging Het
Catsperd T C 17: 56,940,521 (GRCm39) F69S probably damaging Het
Cep250 A G 2: 155,805,706 (GRCm39) E105G probably damaging Het
Coil A G 11: 88,864,962 (GRCm39) Y63C probably damaging Het
Defa24 T C 8: 22,224,617 (GRCm39) I22T probably damaging Het
F5 T C 1: 164,045,059 (GRCm39) Y2116H possibly damaging Het
Faf1 C T 4: 109,534,199 (GRCm39) probably benign Het
Hectd4 A G 5: 121,436,167 (GRCm39) S1026G probably benign Het
Hgf A T 5: 16,820,800 (GRCm39) H649L probably benign Het
Hmces T C 6: 87,910,283 (GRCm39) V231A probably damaging Het
Kcnh4 A G 11: 100,632,598 (GRCm39) V963A probably benign Het
Ltbp1 T C 17: 75,692,196 (GRCm39) probably null Het
Meox2 G A 12: 37,217,493 (GRCm39) probably benign Het
Mis18bp1 A C 12: 65,196,113 (GRCm39) S550R probably benign Het
Nap1l4 A T 7: 143,095,497 (GRCm39) M1K probably null Het
Nav1 G T 1: 135,512,337 (GRCm39) T241N probably damaging Het
Nbeal2 A G 9: 110,454,264 (GRCm39) W2694R probably damaging Het
Or11g2 A T 14: 50,856,579 (GRCm39) H300L probably benign Het
Or2b6 C A 13: 21,823,331 (GRCm39) D121Y probably damaging Het
Or4c52 A T 2: 89,845,855 (GRCm39) I194F possibly damaging Het
Phaf1 T C 8: 105,965,104 (GRCm39) probably benign Het
Pld1 G A 3: 28,125,426 (GRCm39) probably null Het
Podn T C 4: 107,875,055 (GRCm39) R164G probably benign Het
Qrfprl A T 6: 65,433,290 (GRCm39) H370L probably benign Het
R3hdm1 T A 1: 128,162,821 (GRCm39) L966Q probably damaging Het
Rasef A T 4: 73,662,301 (GRCm39) Y369* probably null Het
Ryr1 A T 7: 28,777,989 (GRCm39) V2176E probably damaging Het
Sec14l2 A G 11: 4,053,980 (GRCm39) L229P possibly damaging Het
Sec23a T C 12: 59,048,652 (GRCm39) S157G possibly damaging Het
Slit2 T A 5: 48,346,814 (GRCm39) W219R probably damaging Het
Smarcad1 G A 6: 65,033,400 (GRCm39) E128K probably damaging Het
Stk31 A T 6: 49,400,318 (GRCm39) N381I possibly damaging Het
Svop A G 5: 114,180,356 (GRCm39) Y264H probably damaging Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Ush2a T A 1: 188,607,066 (GRCm39) I3987N probably damaging Het
Ush2a T A 1: 188,643,738 (GRCm39) S4367T probably benign Het
Vdr A T 15: 97,765,052 (GRCm39) V229D probably damaging Het
Ywhaz G T 15: 36,790,959 (GRCm39) T88K possibly damaging Het
Zc3h10 A T 10: 128,380,672 (GRCm39) C228* probably null Het
Predicted Primers PCR Primer
(F):5'- TTTTAAGAGCAGCCACACAGGAGTC -3'
(R):5'- ACCAAGGCATTTTAGCCCAGCAG -3'

Sequencing Primer
(F):5'- CACAGGAGTCACCAGCATAGG -3'
(R):5'- TTTAGCCCAGCAGGTTTGAAAG -3'
Posted On 2014-05-14