Incidental Mutation 'IGL01688:Ndufb5'
ID104029
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufb5
Ensembl Gene ENSMUSG00000027673
Gene NameNADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5
Synonyms0610007D05Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.808) question?
Stock #IGL01688
Quality Score
Status
Chromosome3
Chromosomal Location32736990-32751566 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 32746464 bp
ZygosityHeterozygous
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]
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: 87,165,123 L59P probably damaging Het
Ccin A T 4: 43,984,985 E464V possibly damaging Het
Cfap58 A G 19: 47,974,567 D472G probably benign Het
Col28a1 C T 6: 7,998,517 E1131K probably damaging Het
Cpne2 A G 8: 94,554,753 T196A possibly damaging Het
Cul4a A T 8: 13,146,571 R742* probably null Het
Cyp21a1 T A 17: 34,802,220 I370F probably damaging Het
Ddx51 T C 5: 110,655,647 F332L probably benign Het
Gm8232 A G 14: 44,433,722 D29G unknown Het
Got1 A G 19: 43,524,336 probably null Het
Gpat4 A G 8: 23,181,845 I58T probably benign Het
Hdac3 T A 18: 37,954,879 D12V possibly damaging Het
Helb T C 10: 120,108,980 H217R probably damaging Het
Hpf1 A T 8: 60,896,796 I153L probably benign Het
Lgsn G A 1: 31,204,405 D523N probably damaging Het
Lrrc63 A G 14: 75,084,982 S561P possibly damaging Het
Myh6 G A 14: 54,963,960 T94I possibly damaging Het
Mzt2 T C 16: 15,862,929 probably benign Het
Nek1 A T 8: 61,105,597 R970* probably null Het
Nepro T C 16: 44,736,006 L509P probably damaging Het
Pank1 T A 19: 34,840,852 I96F probably damaging Het
Parp11 C A 6: 127,471,606 T62K probably benign Het
Pla2g2e T A 4: 138,879,470 probably benign Het
Plekha5 T A 6: 140,569,389 Y207N probably damaging Het
Pomt2 T A 12: 87,147,520 I37F probably benign Het
Prl6a1 T A 13: 27,317,986 V117E probably damaging Het
Prmt3 T A 7: 49,848,732 probably null Het
Rcor3 T A 1: 192,123,600 E20V probably damaging Het
Rere A G 4: 150,618,436 D1449G probably damaging Het
Ric1 T C 19: 29,577,614 V376A probably benign Het
Rims1 G A 1: 22,397,540 T873I probably benign Het
Rras2 T C 7: 114,060,397 D44G probably damaging Het
Sbk2 C T 7: 4,957,717 probably benign Het
Slit1 A G 19: 41,729,106 I73T probably damaging Het
Spice1 T A 16: 44,384,710 M793K probably benign Het
Suco T C 1: 161,863,911 probably null Het
Tarbp1 A T 8: 126,447,551 W839R probably damaging Het
Trpc4 T A 3: 54,266,074 probably benign Het
Tubgcp5 T C 7: 55,815,018 V549A possibly damaging Het
Ubap2 T A 4: 41,226,308 T182S probably benign Het
Wrn A C 8: 33,310,702 probably benign Het
Zc3h15 A G 2: 83,662,192 Y337C probably damaging Het
Zfp292 T A 4: 34,807,855 I1730F possibly damaging Het
Zfp609 A G 9: 65,704,025 V552A probably benign Het
Other mutations in Ndufb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Ndufb5 APN 3 32744899 missense probably damaging 0.98
IGL02629:Ndufb5 APN 3 32737199 missense probably benign 0.02
R0084:Ndufb5 UTSW 3 32737203 missense probably benign 0.02
R2851:Ndufb5 UTSW 3 32746451 missense probably damaging 1.00
R5663:Ndufb5 UTSW 3 32747749 missense possibly damaging 0.90
R5742:Ndufb5 UTSW 3 32747781 missense probably damaging 0.99
R6609:Ndufb5 UTSW 3 32741683 missense probably benign 0.01
Z31818:Ndufb5 UTSW 3 32746461 missense probably benign 0.19
Posted On2014-01-21