Incidental Mutation 'IGL01688:Ndufb5'
ID 104029
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufb5
Ensembl Gene ENSMUSG00000027673
Gene Name NADH:ubiquinone oxidoreductase subunit B5
Synonyms 0610007D05Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.579) question?
Stock # IGL01688
Quality Score
Status
Chromosome 3
Chromosomal Location 32791206-32805708 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 32800613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 62 (L62*)
Ref Sequence ENSEMBL: ENSMUSP00000117240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029217] [ENSMUST00000121778] [ENSMUST00000122290] [ENSMUST00000127477] [ENSMUST00000139593] [ENSMUST00000154257]
AlphaFold Q9CQH3
Predicted Effect probably benign
Transcript: ENSMUST00000029217
Predicted Effect probably null
Transcript: ENSMUST00000121778
AA Change: L77*
SMART Domains Protein: ENSMUSP00000113169
Gene: ENSMUSG00000027673
AA Change: L77*

DomainStartEndE-ValueType
Pfam:NDUF_B5 1 163 5.1e-75 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000122290
AA Change: L7*
SMART Domains Protein: ENSMUSP00000113602
Gene: ENSMUSG00000027673
AA Change: L7*

DomainStartEndE-ValueType
Pfam:NDUF_B5 1 119 1.1e-68 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000127477
AA Change: L77*
SMART Domains Protein: ENSMUSP00000114963
Gene: ENSMUSG00000027673
AA Change: L77*

DomainStartEndE-ValueType
Pfam:NDUF_B5 1 189 3.5e-91 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000139593
AA Change: L75*
SMART Domains Protein: ENSMUSP00000115088
Gene: ENSMUSG00000027673
AA Change: L75*

DomainStartEndE-ValueType
Pfam:NDUF_B5 6 172 6e-79 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000154257
AA Change: L62*
SMART Domains Protein: ENSMUSP00000117240
Gene: ENSMUSG00000027673
AA Change: L62*

DomainStartEndE-ValueType
Pfam:NDUF_B5 1 135 8.4e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156174
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,000,985 (GRCm39) L59P probably damaging Het
Ccin A T 4: 43,984,985 (GRCm39) E464V possibly damaging Het
Cfap58 A G 19: 47,963,006 (GRCm39) D472G probably benign Het
Col28a1 C T 6: 7,998,517 (GRCm39) E1131K probably damaging Het
Cpne2 A G 8: 95,281,381 (GRCm39) T196A possibly damaging Het
Cul4a A T 8: 13,196,571 (GRCm39) R742* probably null Het
Cyp21a1 T A 17: 35,021,194 (GRCm39) I370F probably damaging Het
Ddx51 T C 5: 110,803,513 (GRCm39) F332L probably benign Het
Gm8232 A G 14: 44,671,179 (GRCm39) D29G unknown Het
Got1 A G 19: 43,512,775 (GRCm39) probably null Het
Gpat4 A G 8: 23,671,861 (GRCm39) I58T probably benign Het
Hdac3 T A 18: 38,087,932 (GRCm39) D12V possibly damaging Het
Helb T C 10: 119,944,885 (GRCm39) H217R probably damaging Het
Hpf1 A T 8: 61,349,830 (GRCm39) I153L probably benign Het
Lgsn G A 1: 31,243,486 (GRCm39) D523N probably damaging Het
Lrrc63 A G 14: 75,322,422 (GRCm39) S561P possibly damaging Het
Myh6 G A 14: 55,201,417 (GRCm39) T94I possibly damaging Het
Mzt2 T C 16: 15,680,793 (GRCm39) probably benign Het
Nek1 A T 8: 61,558,631 (GRCm39) R970* probably null Het
Nepro T C 16: 44,556,369 (GRCm39) L509P probably damaging Het
Pank1 T A 19: 34,818,252 (GRCm39) I96F probably damaging Het
Parp11 C A 6: 127,448,569 (GRCm39) T62K probably benign Het
Pla2g2e T A 4: 138,606,781 (GRCm39) probably benign Het
Plekha5 T A 6: 140,515,115 (GRCm39) Y207N probably damaging Het
Pomt2 T A 12: 87,194,294 (GRCm39) I37F probably benign Het
Prl6a1 T A 13: 27,501,969 (GRCm39) V117E probably damaging Het
Prmt3 T A 7: 49,498,480 (GRCm39) probably null Het
Rcor3 T A 1: 191,807,900 (GRCm39) E20V probably damaging Het
Rere A G 4: 150,702,893 (GRCm39) D1449G probably damaging Het
Ric1 T C 19: 29,555,014 (GRCm39) V376A probably benign Het
Rims1 G A 1: 22,467,764 (GRCm39) T873I probably benign Het
Rras2 T C 7: 113,659,632 (GRCm39) D44G probably damaging Het
Sbk2 C T 7: 4,960,716 (GRCm39) probably benign Het
Slit1 A G 19: 41,717,545 (GRCm39) I73T probably damaging Het
Spice1 T A 16: 44,205,073 (GRCm39) M793K probably benign Het
Suco T C 1: 161,691,480 (GRCm39) probably null Het
Tarbp1 A T 8: 127,174,290 (GRCm39) W839R probably damaging Het
Trpc4 T A 3: 54,173,495 (GRCm39) probably benign Het
Tubgcp5 T C 7: 55,464,766 (GRCm39) V549A possibly damaging Het
Ubap2 T A 4: 41,226,308 (GRCm39) T182S probably benign Het
Wrn A C 8: 33,800,730 (GRCm39) probably benign Het
Zc3h15 A G 2: 83,492,536 (GRCm39) Y337C probably damaging Het
Zfp292 T A 4: 34,807,855 (GRCm39) I1730F possibly damaging Het
Zfp609 A G 9: 65,611,307 (GRCm39) V552A probably benign Het
Other mutations in Ndufb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Ndufb5 APN 3 32,799,048 (GRCm39) missense probably damaging 0.98
IGL02629:Ndufb5 APN 3 32,791,348 (GRCm39) missense probably benign 0.02
R0084:Ndufb5 UTSW 3 32,791,352 (GRCm39) missense probably benign 0.02
R2851:Ndufb5 UTSW 3 32,800,600 (GRCm39) missense probably damaging 1.00
R5663:Ndufb5 UTSW 3 32,801,898 (GRCm39) missense possibly damaging 0.90
R5742:Ndufb5 UTSW 3 32,801,930 (GRCm39) missense probably damaging 0.99
R6609:Ndufb5 UTSW 3 32,795,832 (GRCm39) missense probably benign 0.01
R8492:Ndufb5 UTSW 3 32,805,377 (GRCm39) splice site probably null
R9244:Ndufb5 UTSW 3 32,795,906 (GRCm39) missense probably null 0.00
R9598:Ndufb5 UTSW 3 32,795,881 (GRCm39) missense probably benign 0.03
Z31818:Ndufb5 UTSW 3 32,800,610 (GRCm39) missense probably benign 0.19
Posted On 2014-01-21