Incidental Mutation 'R8275:Oxa1l'
ID 637956
Institutional Source Beutler Lab
Gene Symbol Oxa1l
Ensembl Gene ENSMUSG00000000959
Gene Name oxidase assembly 1-like
Synonyms 1810020M02Rik
MMRRC Submission 067698-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8275 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 54598298-54607130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 54600758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 77 (I77N)
Ref Sequence ENSEMBL: ENSMUSP00000000985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000985]
AlphaFold Q8BGA9
Predicted Effect possibly damaging
Transcript: ENSMUST00000000985
AA Change: I77N

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000000985
Gene: ENSMUSG00000000959
AA Change: I77N

DomainStartEndE-ValueType
low complexity region 9 20 N/A INTRINSIC
low complexity region 29 41 N/A INTRINSIC
Pfam:60KD_IMP 135 330 4.1e-28 PFAM
low complexity region 406 427 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198107
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228567
Predicted Effect probably benign
Transcript: ENSMUST00000228719
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (39/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an evolutionarily conserved protein that is localized to the inner mitochondrial membrane. The encoded protein is essential for the translocation of the N-terminal tail of subunit 2 of cytochrome c oxidase, and is involved in the assembly of the cytochrome c oxidase and ATPase complexes of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alx1 T C 10: 102,864,250 (GRCm39) D73G probably benign Het
Asah1 G A 8: 41,801,159 (GRCm39) H156Y probably damaging Het
Cgn G A 3: 94,682,263 (GRCm39) L439F possibly damaging Het
Creb1 C A 1: 64,597,687 (GRCm39) T7K probably benign Het
Cyp2c54 T A 19: 40,026,749 (GRCm39) I469L probably benign Het
Cyp2s1 T A 7: 25,508,735 (GRCm39) T236S probably benign Het
Duox1 T C 2: 122,175,249 (GRCm39) I1349T probably benign Het
Efhd2 C T 4: 141,602,073 (GRCm39) A36T probably benign Het
Espl1 G A 15: 102,211,188 (GRCm39) probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat3 T A 9: 16,158,046 (GRCm39) Q1188L probably damaging Het
Flt1 A T 5: 147,614,957 (GRCm39) Y330N probably damaging Het
Golga4 A T 9: 118,361,627 (GRCm39) S202C probably damaging Het
Htr2b C T 1: 86,030,294 (GRCm39) D134N probably damaging Het
Katna1 T A 10: 7,628,574 (GRCm39) C268S probably damaging Het
Lama4 T C 10: 38,948,807 (GRCm39) Y857H probably damaging Het
Lyst T C 13: 13,950,667 (GRCm39) I3741T probably benign Het
Mcm4 T C 16: 15,452,435 (GRCm39) I233V probably damaging Het
Mettl22 T C 16: 8,303,792 (GRCm39) V286A possibly damaging Het
Nav3 C A 10: 109,527,984 (GRCm39) G1503V noncoding transcript Het
Obox1 T A 7: 15,290,153 (GRCm39) N165K probably damaging Het
Or11g2 T A 14: 50,855,868 (GRCm39) M63K probably damaging Het
Pakap T C 4: 57,886,329 (GRCm39) probably null Het
Papss2 T C 19: 32,615,760 (GRCm39) L164P probably damaging Het
Pikfyve T A 1: 65,292,501 (GRCm39) probably benign Het
Polr2a G A 11: 69,638,882 (GRCm39) R51C probably damaging Het
Rsph10b C G 5: 143,903,323 (GRCm39) T606S possibly damaging Het
Siglecg T C 7: 43,061,892 (GRCm39) V546A probably benign Het
Slc22a29 T C 19: 8,146,681 (GRCm39) S374G probably benign Het
Tia1 C T 6: 86,404,718 (GRCm39) Q318* probably null Het
Trpm2 T A 10: 77,801,859 (GRCm39) K69* probably null Het
Unc80 C T 1: 66,679,773 (GRCm39) R2115* probably null Het
Usp35 A G 7: 96,964,026 (GRCm39) S436P probably damaging Het
Vmn1r220 A T 13: 23,368,483 (GRCm39) L71* probably null Het
Vmn2r15 A T 5: 109,434,150 (GRCm39) D851E probably benign Het
Vps33a A T 5: 123,707,522 (GRCm39) D148E probably damaging Het
Zfp729a G A 13: 67,768,223 (GRCm39) H669Y probably benign Het
Zfp804b C T 5: 6,822,289 (GRCm39) R258Q probably benign Het
Other mutations in Oxa1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Oxa1l APN 14 54,600,802 (GRCm39) nonsense probably null
R0196:Oxa1l UTSW 14 54,600,944 (GRCm39) missense probably damaging 1.00
R0541:Oxa1l UTSW 14 54,605,646 (GRCm39) missense possibly damaging 0.80
R1773:Oxa1l UTSW 14 54,600,909 (GRCm39) missense probably benign 0.01
R2197:Oxa1l UTSW 14 54,598,924 (GRCm39) missense probably benign 0.29
R5652:Oxa1l UTSW 14 54,604,289 (GRCm39) nonsense probably null
R5850:Oxa1l UTSW 14 54,605,121 (GRCm39) missense possibly damaging 0.87
R5898:Oxa1l UTSW 14 54,600,758 (GRCm39) missense possibly damaging 0.50
R6088:Oxa1l UTSW 14 54,605,151 (GRCm39) critical splice donor site probably null
R6162:Oxa1l UTSW 14 54,605,789 (GRCm39) missense probably damaging 1.00
R6869:Oxa1l UTSW 14 54,604,195 (GRCm39) missense probably damaging 1.00
R7244:Oxa1l UTSW 14 54,598,312 (GRCm39) start codon destroyed probably benign 0.33
R7247:Oxa1l UTSW 14 54,598,312 (GRCm39) start codon destroyed probably benign 0.33
R7317:Oxa1l UTSW 14 54,598,312 (GRCm39) start codon destroyed probably benign 0.33
R7562:Oxa1l UTSW 14 54,600,934 (GRCm39) missense probably damaging 1.00
R7939:Oxa1l UTSW 14 54,604,876 (GRCm39) missense probably benign 0.00
R8018:Oxa1l UTSW 14 54,600,757 (GRCm39) missense not run
R8245:Oxa1l UTSW 14 54,605,274 (GRCm39) missense probably damaging 1.00
R8483:Oxa1l UTSW 14 54,606,001 (GRCm39) splice site probably null
R8679:Oxa1l UTSW 14 54,605,248 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TCTCTTAAGTTATCCTGCTAGAGGC -3'
(R):5'- CTTACACGTGGCAATGGCTC -3'

Sequencing Primer
(F):5'- CACCATTGGCCATCATTG -3'
(R):5'- TGGCAATGGCTCCCCAC -3'
Posted On 2020-07-28