Incidental Mutation 'R2197:Oxa1l'
ID 238447
Institutional Source Beutler Lab
Gene Symbol Oxa1l
Ensembl Gene ENSMUSG00000000959
Gene Name oxidase assembly 1-like
Synonyms 1810020M02Rik
MMRRC Submission 040199-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2197 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 54598298-54607130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54598924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 70 (Q70L)
Ref Sequence ENSEMBL: ENSMUSP00000000985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000985]
AlphaFold Q8BGA9
Predicted Effect probably benign
Transcript: ENSMUST00000000985
AA Change: Q70L

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000000985
Gene: ENSMUSG00000000959
AA Change: Q70L

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 A T 11: 102,660,750 (GRCm39) I94F possibly damaging Het
Ankrd50 A T 3: 38,509,741 (GRCm39) D875E probably damaging Het
Arf3 T C 15: 98,639,285 (GRCm39) N60S probably benign Het
Atxn2 T G 5: 121,944,280 (GRCm39) probably null Het
B3gnt8 A T 7: 25,328,373 (GRCm39) I268F probably benign Het
Bmp1 T A 14: 70,723,712 (GRCm39) D708V possibly damaging Het
C1s2 A G 6: 124,609,069 (GRCm39) S163P probably damaging Het
C3 A G 17: 57,526,623 (GRCm39) I786T probably benign Het
Cacna2d2 T A 9: 107,404,602 (GRCm39) L1138Q probably damaging Het
Cage1 T A 13: 38,207,029 (GRCm39) Y272F probably damaging Het
Cd300ld A T 11: 114,875,058 (GRCm39) M192K possibly damaging Het
Cdc5l A T 17: 45,718,745 (GRCm39) F624I probably benign Het
Cdh8 T A 8: 99,922,897 (GRCm39) Q333L probably damaging Het
Ciapin1 T A 8: 95,555,787 (GRCm39) K128* probably null Het
Col6a3 T A 1: 90,731,467 (GRCm39) E988D probably benign Het
Crip3 A G 17: 46,740,338 (GRCm39) E46G probably damaging Het
D5Ertd579e A G 5: 36,772,137 (GRCm39) S753P possibly damaging Het
Dock6 T A 9: 21,744,177 (GRCm39) D126V probably damaging Het
Duxf4 T A 10: 58,072,158 (GRCm39) I19F possibly damaging Het
Dvl3 A G 16: 20,342,506 (GRCm39) E153G probably damaging Het
Epas1 A T 17: 87,136,471 (GRCm39) M748L probably benign Het
Exoc8 A G 8: 125,622,477 (GRCm39) L630P probably damaging Het
Fam227a G A 15: 79,507,668 (GRCm39) T454M probably damaging Het
Flnc A T 6: 29,459,134 (GRCm39) D2472V probably damaging Het
Galnt4 G A 10: 98,944,509 (GRCm39) G78E probably damaging Het
Ghr A T 15: 3,362,956 (GRCm39) L172* probably null Het
Gjb5 A T 4: 127,250,063 (GRCm39) probably null Het
Hdac5 T C 11: 102,095,340 (GRCm39) D427G probably damaging Het
Hsd17b4 G A 18: 50,316,369 (GRCm39) probably null Het
Kcnab1 T C 3: 65,017,368 (GRCm39) I59T probably benign Het
Kcnh7 A G 2: 62,607,950 (GRCm39) Y544H probably damaging Het
Kdm7a A G 6: 39,123,870 (GRCm39) S765P probably damaging Het
Lama1 A T 17: 68,059,936 (GRCm39) H675L probably benign Het
Lemd3 CCCTCCTCCTCCTCCTCCTCC CCCTCCTCCTCCTCCTCC 10: 120,814,432 (GRCm39) probably benign Het
Llgl1 T C 11: 60,600,865 (GRCm39) S654P possibly damaging Het
Lvrn G T 18: 47,011,409 (GRCm39) M455I probably benign Het
Mfsd12 T A 10: 81,193,568 (GRCm39) L46Q probably damaging Het
Mtcl1 A T 17: 66,673,427 (GRCm39) M783K probably benign Het
Mthfd1l A T 10: 3,978,399 (GRCm39) T420S probably damaging Het
Mybphl T A 3: 108,284,635 (GRCm39) I294N probably damaging Het
Or4c52 G A 2: 89,845,768 (GRCm39) G165S probably damaging Het
Or4f14b T C 2: 111,775,658 (GRCm39) T48A possibly damaging Het
Or52ab7 T A 7: 102,977,831 (GRCm39) L46* probably null Het
Pcdhac2 A T 18: 37,279,185 (GRCm39) I722F probably damaging Het
Pde4d A G 13: 110,084,924 (GRCm39) D460G probably damaging Het
Pth1r CGGG CGGGGGG 9: 110,556,058 (GRCm39) probably benign Het
Rab11fip3 A G 17: 26,287,152 (GRCm39) S334P probably benign Het
Ror2 C T 13: 53,439,816 (GRCm39) probably null Het
Scnn1g G C 7: 121,366,519 (GRCm39) W572S probably damaging Het
Skint5 G A 4: 113,798,046 (GRCm39) S179L probably damaging Het
Slc22a2 G T 17: 12,817,949 (GRCm39) G175V probably damaging Het
Spaca6 G A 17: 18,056,416 (GRCm39) probably null Het
Tbc1d30 C T 10: 121,140,312 (GRCm39) R207H probably damaging Het
Tdrd5 A G 1: 156,087,435 (GRCm39) I829T probably benign Het
Tmcc3 T C 10: 94,414,780 (GRCm39) S161P probably damaging Het
Tmem150b A G 7: 4,719,353 (GRCm39) V189A probably benign Het
Tmem248 A G 5: 130,260,597 (GRCm39) D54G probably benign Het
Trmt1 T A 8: 85,417,487 (GRCm39) S121T probably damaging Het
Tyk2 C T 9: 21,026,503 (GRCm39) V698M probably damaging Het
Usp17la A G 7: 104,509,919 (GRCm39) R175G probably damaging Het
Vav1 A G 17: 57,610,140 (GRCm39) N464S probably benign Het
Vmn2r57 T G 7: 41,078,249 (GRCm39) probably null Het
Vmn2r78 A G 7: 86,570,535 (GRCm39) Y351C probably damaging 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
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
R8275:Oxa1l UTSW 14 54,600,758 (GRCm39) missense possibly damaging 0.50
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'- AGTCTGTGCGAGCAGAGTTG -3'
(R):5'- CTGAGATGAGAATCTACTTCTACTCC -3'

Sequencing Primer
(F):5'- TGGGACTCAAGGCCTTCC -3'
(R):5'- GAGAATCTACTTCTACTCCAAACAGG -3'
Posted On 2014-10-02