Incidental Mutation 'IGL00336:Oxa1l'
ID 5877
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oxa1l
Ensembl Gene ENSMUSG00000000959
Gene Name oxidase assembly 1-like
Synonyms 1810020M02Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL00336
Quality Score
Status
Chromosome 14
Chromosomal Location 54360834-54369673 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 54363345 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Stop codon at position 92 (G92*)
Ref Sequence ENSEMBL: ENSMUSP00000000985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000985]
AlphaFold Q8BGA9
Predicted Effect probably null
Transcript: ENSMUST00000000985
AA Change: G92*
SMART Domains Protein: ENSMUSP00000000985
Gene: ENSMUSG00000000959
AA Change: G92*

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
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik A T 13: 63,015,423 D86V possibly damaging Het
A430033K04Rik A G 5: 138,647,104 Y417C probably damaging Het
Adam28 T A 14: 68,622,120 H548L possibly damaging Het
AF529169 T C 9: 89,603,143 D67G probably damaging Het
Agbl3 A T 6: 34,846,836 D812V probably damaging Het
Aox1 T A 1: 58,059,044 L305Q probably damaging Het
Arhgef38 A G 3: 133,132,051 V706A probably benign Het
Arl15 A G 13: 114,154,752 I171V probably benign Het
Cacna1s C A 1: 136,084,273 Y237* probably null Het
Ccnt1 T C 15: 98,565,109 T61A possibly damaging Het
Col25a1 T A 3: 130,181,784 probably benign Het
Col4a1 T A 8: 11,240,077 probably benign Het
Dcun1d1 T C 3: 35,916,306 E130G possibly damaging Het
Dnah7b G A 1: 46,142,149 M1065I probably benign Het
Ephb2 T G 4: 136,657,484 K872T probably damaging Het
Fga G A 3: 83,031,674 G452D probably damaging Het
Flrt1 T A 19: 7,096,912 N90I probably damaging Het
Fut10 T A 8: 31,195,291 probably null Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gpr137b T C 13: 13,374,415 probably benign Het
Gprc5d G A 6: 135,116,490 Q140* probably null Het
Ifi27l2b T C 12: 103,451,217 K237R unknown Het
Ipo8 A T 6: 148,782,786 M836K possibly damaging Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Lama1 A T 17: 67,813,948 H2693L probably benign Het
Lrrc23 A G 6: 124,778,926 W40R probably damaging Het
Morn2 C A 17: 80,295,504 probably benign Het
Ms4a6b T A 19: 11,529,490 N214K possibly damaging Het
Nags A T 11: 102,149,066 S527C probably damaging Het
Ndst1 C T 18: 60,707,956 G218D probably damaging Het
Olfr1097 C T 2: 86,890,245 C310Y probably benign Het
Olfr1442 T A 19: 12,674,560 Y118* probably null Het
Olfr16 G A 1: 172,957,478 V228M probably benign Het
Parp16 A T 9: 65,229,963 E157V probably damaging Het
Pcdh17 A T 14: 84,447,544 I484F probably damaging Het
Pex16 A G 2: 92,379,235 R263G probably benign Het
Pkd1l3 G A 8: 109,630,237 E765K possibly damaging Het
Plce1 T C 19: 38,651,906 V532A probably damaging Het
Polq A G 16: 37,065,247 probably benign Het
Pramel5 T C 4: 144,271,621 T351A probably damaging Het
Prokr1 A T 6: 87,588,611 I84N probably damaging Het
Prss30 A T 17: 23,973,721 S162T probably benign Het
Ranbp2 A G 10: 58,451,984 K25E probably damaging Het
Rapsn A G 2: 91,035,860 T22A probably damaging Het
Rhoj G T 12: 75,308,906 G9V probably damaging Het
Rnf213 A G 11: 119,449,343 R3467G probably benign Het
Rreb1 C A 13: 37,929,646 S327* probably null Het
Scn5a G A 9: 119,486,224 P1806L probably damaging Het
Sema6a C A 18: 47,289,975 probably null Het
Stag3 G A 5: 138,297,659 E416K probably benign Het
Stpg1 T A 4: 135,529,545 S216T possibly damaging Het
Tfeb C A 17: 47,791,664 N426K probably benign Het
Trp53bp1 G T 2: 121,256,579 Q199K possibly damaging Het
Ubr4 A G 4: 139,428,566 D2234G probably damaging Het
Ush1c T G 7: 46,196,770 Q866P probably benign Het
Vdr T A 15: 97,884,854 D29V probably damaging Het
Vps13c T C 9: 67,945,942 V2439A probably benign Het
Xirp2 T C 2: 67,512,598 S1728P possibly damaging Het
Zfp9 A G 6: 118,464,475 S409P probably damaging Het
Other mutations in Oxa1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0196:Oxa1l UTSW 14 54363487 missense probably damaging 1.00
R0541:Oxa1l UTSW 14 54368189 missense possibly damaging 0.80
R1773:Oxa1l UTSW 14 54363452 missense probably benign 0.01
R2197:Oxa1l UTSW 14 54361467 missense probably benign 0.29
R5652:Oxa1l UTSW 14 54366832 nonsense probably null
R5850:Oxa1l UTSW 14 54367664 missense possibly damaging 0.87
R5898:Oxa1l UTSW 14 54363301 missense possibly damaging 0.50
R6088:Oxa1l UTSW 14 54367694 critical splice donor site probably null
R6162:Oxa1l UTSW 14 54368332 missense probably damaging 1.00
R6869:Oxa1l UTSW 14 54366738 missense probably damaging 1.00
R7244:Oxa1l UTSW 14 54360855 start codon destroyed probably benign 0.33
R7247:Oxa1l UTSW 14 54360855 start codon destroyed probably benign 0.33
R7317:Oxa1l UTSW 14 54360855 start codon destroyed probably benign 0.33
R7562:Oxa1l UTSW 14 54363477 missense probably damaging 1.00
R7939:Oxa1l UTSW 14 54367419 missense probably benign 0.00
R8018:Oxa1l UTSW 14 54363300 missense not run
R8245:Oxa1l UTSW 14 54367817 missense probably damaging 1.00
R8275:Oxa1l UTSW 14 54363301 missense possibly damaging 0.50
R8483:Oxa1l UTSW 14 54368544 splice site probably null
R8679:Oxa1l UTSW 14 54367791 critical splice acceptor site probably null
Posted On 2012-04-20