Incidental Mutation 'IGL02439:Ndufa5'
ID 293367
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufa5
Ensembl Gene ENSMUSG00000023089
Gene Name NADH:ubiquinone oxidoreductase subunit A5
Synonyms 2900002J19Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02439
Quality Score
Status
Chromosome 6
Chromosomal Location 24518661-24527689 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24519201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 41 (V41E)
Ref Sequence ENSEMBL: ENSMUSP00000112971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023851] [ENSMUST00000052277] [ENSMUST00000118558]
AlphaFold Q9CPP6
Predicted Effect probably damaging
Transcript: ENSMUST00000023851
AA Change: V80E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023851
Gene: ENSMUSG00000023089
AA Change: V80E

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:ETC_C1_NDUFA5 19 73 1.4e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052277
SMART Domains Protein: ENSMUSP00000051177
Gene: ENSMUSG00000046192

DomainStartEndE-ValueType
PDB:2DAF|A 119 216 1e-38 PDB
Blast:UBQ 129 199 3e-26 BLAST
low complexity region 218 229 N/A INTRINSIC
low complexity region 289 306 N/A INTRINSIC
IQ 333 355 1.74e-1 SMART
low complexity region 357 383 N/A INTRINSIC
low complexity region 735 742 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118558
AA Change: V41E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112971
Gene: ENSMUSG00000023089
AA Change: V41E

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132588
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141274
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality at E9. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik A T 14: 4,348,890 (GRCm38) Y17F probably benign Het
Ablim2 A C 5: 36,015,206 (GRCm39) T507P possibly damaging Het
Arhgef28 T C 13: 98,067,647 (GRCm39) Y1426C possibly damaging Het
Cftr T A 6: 18,258,237 (GRCm39) Y592* probably null Het
Eogt C T 6: 97,120,934 (GRCm39) G93D possibly damaging Het
Exosc9 A G 3: 36,607,180 (GRCm39) probably benign Het
Frem1 T C 4: 82,874,582 (GRCm39) I1329V probably benign Het
Gal3st1 T C 11: 3,948,110 (GRCm39) F106L possibly damaging Het
Gulp1 A T 1: 44,820,164 (GRCm39) I216F probably damaging Het
Ints13 A T 6: 146,455,721 (GRCm39) probably benign Het
Kars1 G A 8: 112,724,268 (GRCm39) T453I probably benign Het
Kif14 A G 1: 136,417,999 (GRCm39) D844G probably damaging Het
Lgals3bp A T 11: 118,289,046 (GRCm39) C93S probably damaging Het
Lst1 T C 17: 35,405,958 (GRCm39) I32V probably benign Het
Malsu1 T A 6: 49,052,121 (GRCm39) Y114N probably damaging Het
Nme6 C A 9: 109,670,999 (GRCm39) P80T probably damaging Het
Odad2 T A 18: 7,268,444 (GRCm39) R358S probably benign Het
Or5ac20 A G 16: 59,104,818 (GRCm39) L14P probably damaging Het
Padi4 T C 4: 140,473,532 (GRCm39) D635G probably damaging Het
Pcf11 C T 7: 92,311,049 (GRCm39) S313N possibly damaging Het
Pdik1l T C 4: 134,006,015 (GRCm39) H309R probably benign Het
Pdk2 A T 11: 94,930,323 (GRCm39) probably benign Het
Pprc1 A G 19: 46,060,758 (GRCm39) S1606G possibly damaging Het
Ptch1 A G 13: 63,692,910 (GRCm39) I230T probably damaging Het
Scn10a C T 9: 119,447,914 (GRCm39) R1381Q probably benign Het
Sestd1 T C 2: 77,027,174 (GRCm39) K479E possibly damaging Het
Sez6l2 C T 7: 126,567,361 (GRCm39) S892L probably damaging Het
Slc39a9 G T 12: 80,713,350 (GRCm39) A83S probably benign Het
Slc6a6 A G 6: 91,726,808 (GRCm39) Y483C probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tas2r131 A G 6: 132,934,732 (GRCm39) S26P probably damaging Het
Timd2 A G 11: 46,569,063 (GRCm39) probably benign Het
Tmem126a T C 7: 90,104,641 (GRCm39) E27G probably damaging Het
Tns2 G A 15: 102,022,978 (GRCm39) G1256E probably damaging Het
Trpv6 T A 6: 41,602,421 (GRCm39) I322F probably damaging Het
Tshr G A 12: 91,504,321 (GRCm39) V420M probably damaging Het
Ttn C A 2: 76,596,431 (GRCm39) A20161S probably damaging Het
Vmn2r66 A T 7: 84,654,455 (GRCm39) probably benign Het
Zfp438 T A 18: 5,213,216 (GRCm39) S581C probably damaging Het
Other mutations in Ndufa5
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB004:Ndufa5 UTSW 6 24,527,291 (GRCm39) missense possibly damaging 0.89
BB014:Ndufa5 UTSW 6 24,527,291 (GRCm39) missense possibly damaging 0.89
R0441:Ndufa5 UTSW 6 24,522,750 (GRCm39) missense probably benign 0.30
R0609:Ndufa5 UTSW 6 24,519,248 (GRCm39) missense possibly damaging 0.95
R4891:Ndufa5 UTSW 6 24,519,246 (GRCm39) missense possibly damaging 0.67
R7014:Ndufa5 UTSW 6 24,519,190 (GRCm39) critical splice donor site probably null
R7661:Ndufa5 UTSW 6 24,518,724 (GRCm39) makesense probably null
R7927:Ndufa5 UTSW 6 24,527,291 (GRCm39) missense possibly damaging 0.89
R8139:Ndufa5 UTSW 6 24,522,757 (GRCm39) nonsense probably null
R9349:Ndufa5 UTSW 6 24,522,749 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16