Incidental Mutation 'Z31818:Ndufb5'
ID 478394
Institutional Source Beutler Lab
Gene Symbol Ndufb5
Ensembl Gene ENSMUSG00000027673
Gene Name NADH:ubiquinone oxidoreductase subunit B5
Synonyms 0610007D05Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.530) question?
Stock # Z31818 (F1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 32791206-32805708 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32800610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 74 (M74K)
Ref Sequence ENSEMBL: ENSMUSP00000115088 (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 benign
Transcript: ENSMUST00000121778
AA Change: M76K

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113169
Gene: ENSMUSG00000027673
AA Change: M76K

DomainStartEndE-ValueType
Pfam:NDUF_B5 1 163 5.1e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122290
AA Change: M6K

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113602
Gene: ENSMUSG00000027673
AA Change: M6K

DomainStartEndE-ValueType
Pfam:NDUF_B5 1 119 1.1e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127477
AA Change: M76K

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000114963
Gene: ENSMUSG00000027673
AA Change: M76K

DomainStartEndE-ValueType
Pfam:NDUF_B5 1 189 3.5e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139593
AA Change: M74K

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000115088
Gene: ENSMUSG00000027673
AA Change: M74K

DomainStartEndE-ValueType
Pfam:NDUF_B5 6 172 6e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154257
AA Change: M61K

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000117240
Gene: ENSMUSG00000027673
AA Change: M61K

DomainStartEndE-ValueType
Pfam:NDUF_B5 1 135 8.4e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156174
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 96.9%
  • 20x: 89.9%
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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dmrtc2 C A 7: 24,576,583 (GRCm39) P336T probably benign Het
Flt3 C T 5: 147,303,728 (GRCm39) probably null Het
Fndc5 G A 4: 129,033,142 (GRCm39) D70N probably damaging Het
Gan T A 8: 117,922,536 (GRCm39) I423N probably damaging Het
Itpr3 T G 17: 27,314,452 (GRCm39) L634R probably damaging Het
Or9m1b A T 2: 87,836,234 (GRCm39) L287* probably null Het
Osbpl6 A G 2: 76,385,426 (GRCm39) R287G probably damaging Het
Pkd1l3 A C 8: 110,395,924 (GRCm39) N2098T probably damaging Het
Proser3 G A 7: 30,245,790 (GRCm39) P97L possibly damaging Het
Rag2 G A 2: 101,461,150 (GRCm39) A487T probably damaging Het
Sorl1 A T 9: 41,952,892 (GRCm39) C716* probably null Het
Ugt1a6b T C 1: 88,034,877 (GRCm39) Y72H probably benign Het
Vmn2r74 T C 7: 85,604,729 (GRCm39) probably null Het
Vps13a C T 19: 16,758,118 (GRCm39) V6M possibly damaging Het
Other mutations in Ndufb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Ndufb5 APN 3 32,799,048 (GRCm39) missense probably damaging 0.98
IGL01688:Ndufb5 APN 3 32,800,613 (GRCm39) nonsense probably null
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
Predicted Primers PCR Primer
(F):5'- TGGCTGAAATGCTACTGTTTTC -3'
(R):5'- AGTGTGTGGTCGCAGCAATG -3'

Sequencing Primer
(F):5'- TCTCATTGCTTTAACCAAGAAGTC -3'
(R):5'- TGGTCGCAGCAATGCAAAAG -3'
Posted On 2017-06-26