Incidental Mutation 'R5652:Oxa1l'
ID 441516
Institutional Source Beutler Lab
Gene Symbol Oxa1l
Ensembl Gene ENSMUSG00000000959
Gene Name oxidase assembly 1-like
Synonyms 1810020M02Rik
MMRRC Submission 043298-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5652 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 54598298-54607130 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 54604289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 183 (L183*)
Ref Sequence ENSEMBL: ENSMUSP00000000985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000984] [ENSMUST00000000985] [ENSMUST00000195970] [ENSMUST00000197440] [ENSMUST00000226753]
AlphaFold Q8BGA9
Predicted Effect probably benign
Transcript: ENSMUST00000000984
SMART Domains Protein: ENSMUSP00000000984
Gene: ENSMUSG00000000958

DomainStartEndE-ValueType
Pfam:AA_permease_2 38 463 2e-64 PFAM
Pfam:AA_permease 43 463 6.3e-28 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000000985
AA Change: L183*
SMART Domains Protein: ENSMUSP00000000985
Gene: ENSMUSG00000000959
AA Change: L183*

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 probably benign
Transcript: ENSMUST00000195970
SMART Domains Protein: ENSMUSP00000143091
Gene: ENSMUSG00000000958

DomainStartEndE-ValueType
Pfam:AA_permease_2 38 462 6.4e-66 PFAM
Pfam:AA_permease 43 467 5.3e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196882
Predicted Effect probably benign
Transcript: ENSMUST00000197440
SMART Domains Protein: ENSMUSP00000143743
Gene: ENSMUSG00000000958

DomainStartEndE-ValueType
Pfam:AA_permease_2 38 463 2e-64 PFAM
Pfam:AA_permease 43 463 6.3e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198107
Predicted Effect probably benign
Transcript: ENSMUST00000226753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228567
Predicted Effect probably benign
Transcript: ENSMUST00000228719
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T C 14: 118,856,339 (GRCm39) I334V probably benign Het
Adamts5 C T 16: 85,696,156 (GRCm39) A334T probably damaging Het
Adcy4 G C 14: 56,010,900 (GRCm39) F672L probably benign Het
Adgrl1 A G 8: 84,656,444 (GRCm39) Y254C probably damaging Het
Adnp2 A G 18: 80,174,065 (GRCm39) S115P probably damaging Het
Aox1 A T 1: 58,134,356 (GRCm39) S1110C probably damaging Het
Arhgap44 G T 11: 64,915,064 (GRCm39) N401K probably damaging Het
Atp23 A T 10: 126,735,494 (GRCm39) N63K possibly damaging Het
Atp8b1 G C 18: 64,664,453 (GRCm39) I1238M probably benign Het
Ccdc38 A T 10: 93,391,448 (GRCm39) probably null Het
Celsr2 T C 3: 108,304,051 (GRCm39) D2364G probably null Het
Celsr3 G A 9: 108,715,671 (GRCm39) D2116N probably benign Het
Cenpf A G 1: 189,389,279 (GRCm39) S1518P probably damaging Het
Clcn3 C A 8: 61,372,387 (GRCm39) V758L possibly damaging Het
Cmklr2 A G 1: 63,222,626 (GRCm39) V203A probably benign Het
Ctsf T C 19: 4,908,505 (GRCm39) L288P probably damaging Het
Cwh43 A G 5: 73,575,484 (GRCm39) T334A probably damaging Het
Cyp3a57 A T 5: 145,286,135 (GRCm39) probably null Het
Ddr1 C T 17: 35,997,400 (GRCm39) A531T probably benign Het
Dennd1a A G 2: 37,691,138 (GRCm39) I260T probably benign Het
Dgkh T C 14: 78,865,201 (GRCm39) H47R probably damaging Het
Dync1h1 G A 12: 110,632,422 (GRCm39) V4514I possibly damaging Het
Dync2h1 A T 9: 7,116,638 (GRCm39) M66K probably benign Het
Fam186a T G 15: 99,843,253 (GRCm39) Y997S possibly damaging Het
Fam8a1 T A 13: 46,827,814 (GRCm39) L334H probably damaging Het
Fat4 C T 3: 39,057,117 (GRCm39) T4271I probably damaging Het
Fdxacb1 T A 9: 50,679,705 (GRCm39) L41Q probably damaging Het
Fgfr2 C T 7: 129,863,593 (GRCm39) V18M probably damaging Het
Gpa33 A C 1: 165,992,714 (GRCm39) probably null Het
Gpr107 A G 2: 31,075,601 (GRCm39) I371V probably benign Het
H1f6 A G 13: 23,880,219 (GRCm39) K124R probably benign Het
Hectd2 T C 19: 36,581,720 (GRCm39) V420A probably damaging Het
Iglc3 A G 16: 18,884,420 (GRCm39) probably benign Het
Igtp A G 11: 58,097,455 (GRCm39) T209A probably benign Het
Itgb7 T A 15: 102,124,638 (GRCm39) N793I possibly damaging Het
Kansl1 G A 11: 104,228,992 (GRCm39) R870C probably damaging Het
Kcnh6 C T 11: 105,899,811 (GRCm39) R27C probably damaging Het
Kif2b T A 11: 91,466,656 (GRCm39) E542D possibly damaging Het
Klhl24 C A 16: 19,938,997 (GRCm39) Y517* probably null Het
Klhl25 A G 7: 75,515,895 (GRCm39) D267G probably benign Het
Krr1 C A 10: 111,813,288 (GRCm39) F195L possibly damaging Het
Lsr C T 7: 30,658,456 (GRCm39) G95D probably damaging Het
Matcap2 A G 9: 22,335,786 (GRCm39) T135A probably benign Het
Med15 A T 16: 17,473,055 (GRCm39) I504N probably damaging Het
Mug1 A G 6: 121,817,140 (GRCm39) R70G probably benign Het
Mypn T A 10: 62,971,580 (GRCm39) Q820L probably damaging Het
Nlrp4f A T 13: 65,330,803 (GRCm39) H863Q probably benign Het
Nudt9 G A 5: 104,207,646 (GRCm39) V213M probably benign Het
Or5ak4 T A 2: 85,161,717 (GRCm39) N175I probably damaging Het
Or5k14 A G 16: 58,692,847 (GRCm39) L222P probably damaging Het
Or7g16 A G 9: 18,726,922 (GRCm39) S223P probably damaging Het
Or8c13 T C 9: 38,092,111 (GRCm39) T3A probably benign Het
Orc2 A G 1: 58,505,231 (GRCm39) F475L probably damaging Het
Pcdh20 T C 14: 88,704,760 (GRCm39) T847A probably damaging Het
Pcdha6 G A 18: 37,101,889 (GRCm39) probably null Het
Pip5k1a T C 3: 94,974,750 (GRCm39) N376S probably benign Het
Pkd1l1 T C 11: 8,859,889 (GRCm39) E573G probably benign Het
Pkp1 T A 1: 135,810,335 (GRCm39) probably null Het
Pum1 T C 4: 130,491,438 (GRCm39) I643T possibly damaging Het
Rapgef3 A G 15: 97,656,318 (GRCm39) S328P probably benign Het
Raver1 A G 9: 21,001,608 (GRCm39) V75A probably damaging Het
Rbm28 T C 6: 29,135,408 (GRCm39) E511G probably damaging Het
Satb1 T A 17: 52,049,823 (GRCm39) T544S probably damaging Het
Sdcbp2 T C 2: 151,431,135 (GRCm39) V248A probably benign Het
Sema7a A G 9: 57,867,942 (GRCm39) D506G probably damaging Het
Septin8 A G 11: 53,428,044 (GRCm39) E286G probably damaging Het
Sh3pxd2b A G 11: 32,372,812 (GRCm39) I660V probably damaging Het
Stk38l G T 6: 146,674,826 (GRCm39) D364Y possibly damaging Het
Sycp2 T C 2: 178,000,498 (GRCm39) probably null Het
Tbc1d31 T A 15: 57,815,062 (GRCm39) S580T probably damaging Het
Tcerg1l G A 7: 137,881,775 (GRCm39) R305C probably damaging Het
Tek T A 4: 94,743,561 (GRCm39) Y859N probably damaging Het
Tjp1 A T 7: 64,962,191 (GRCm39) probably null Het
Tmem132d A T 5: 127,861,859 (GRCm39) I754N possibly damaging Het
Togaram1 G A 12: 65,063,424 (GRCm39) V1580I probably benign Het
Troap A G 15: 98,980,145 (GRCm39) T442A probably benign Het
Ttn A T 2: 76,712,097 (GRCm39) probably benign Het
Twnk T A 19: 44,995,732 (GRCm39) V55E possibly damaging Het
Uggt1 A T 1: 36,255,234 (GRCm39) Y225* probably null Het
Vmn2r109 A G 17: 20,760,781 (GRCm39) *859Q probably null Het
Vmn2r17 A T 5: 109,577,430 (GRCm39) I494L probably benign Het
Vmn2r88 T C 14: 51,656,029 (GRCm39) V746A probably damaging Het
Yae1d1 A G 13: 18,166,291 (GRCm39) L57P probably damaging Het
Zfp26 G A 9: 20,349,137 (GRCm39) R476* probably null Het
Zmynd8 T A 2: 165,649,618 (GRCm39) Q816L probably damaging Het
Zswim8 A T 14: 20,763,495 (GRCm39) H414L possibly 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
R2197:Oxa1l UTSW 14 54,598,924 (GRCm39) missense probably benign 0.29
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'- GTCTTCTAGCTACAGGCAGC -3'
(R):5'- AGCGTGTCATCTCTATGGTG -3'

Sequencing Primer
(F):5'- AGGCAGCTTTTCATTTCACTCCAAG -3'
(R):5'- ATCTCTATGGTGGCCTTGTAAAC -3'
Posted On 2016-11-08