Incidental Mutation 'IGL00502:Ndufb5'
ID 6916
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 # IGL00502
Quality Score
Status
Chromosome 3
Chromosomal Location 32791206-32805708 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32799048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 55 (V55D)
Ref Sequence ENSEMBL: ENSMUSP00000115088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029217] [ENSMUST00000121778] [ENSMUST00000122290] [ENSMUST00000127477] [ENSMUST00000139593] [ENSMUST00000154257]
AlphaFold Q9CQH3
Predicted Effect silent
Transcript: ENSMUST00000029217
Predicted Effect probably damaging
Transcript: ENSMUST00000121778
AA Change: V57D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113169
Gene: ENSMUSG00000027673
AA Change: V57D

DomainStartEndE-ValueType
Pfam:NDUF_B5 1 163 5.1e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122290
SMART Domains Protein: ENSMUSP00000113602
Gene: ENSMUSG00000027673

DomainStartEndE-ValueType
Pfam:NDUF_B5 1 119 1.1e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000127477
AA Change: V57D

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114963
Gene: ENSMUSG00000027673
AA Change: V57D

DomainStartEndE-ValueType
Pfam:NDUF_B5 1 189 3.5e-91 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000139593
AA Change: V55D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115088
Gene: ENSMUSG00000027673
AA Change: V55D

DomainStartEndE-ValueType
Pfam:NDUF_B5 6 172 6e-79 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000154257
AA Change: V42D

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117240
Gene: ENSMUSG00000027673
AA Change: V42D

DomainStartEndE-ValueType
Pfam:NDUF_B5 1 135 8.4e-69 PFAM
Predicted Effect silent
Transcript: ENSMUST00000156174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195565
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A T 15: 94,301,278 (GRCm39) I82N probably damaging Het
Ampd2 A T 3: 107,984,712 (GRCm39) L422H probably damaging Het
Angptl2 T A 2: 33,118,406 (GRCm39) V60E probably damaging Het
Ano3 G A 2: 110,601,395 (GRCm39) probably benign Het
Arhgap40 A G 2: 158,373,078 (GRCm39) D112G probably benign Het
Bcorl1 T G X: 47,494,919 (GRCm39) V1730G probably damaging Het
Btrc A T 19: 45,515,704 (GRCm39) E553V probably damaging Het
Cacna1b A T 2: 24,541,212 (GRCm39) Y1323* probably null Het
Ccdc146 A G 5: 21,506,420 (GRCm39) C674R possibly damaging Het
Ccdc170 A G 10: 4,496,836 (GRCm39) D458G probably damaging Het
Cfap57 T A 4: 118,438,198 (GRCm39) M898L probably benign Het
Crybg1 C T 10: 43,834,309 (GRCm39) V1961I probably damaging Het
Dsp T C 13: 38,381,822 (GRCm39) S2257P probably damaging Het
Dytn A G 1: 63,717,999 (GRCm39) V12A probably benign Het
Foxk2 A G 11: 121,187,925 (GRCm39) probably benign Het
Galnt2l T C 8: 125,054,837 (GRCm39) M204T probably damaging Het
Gfi1b G A 2: 28,504,797 (GRCm39) Q70* probably null Het
Gsdmc T C 15: 63,676,270 (GRCm39) T58A probably benign Het
Hikeshi G A 7: 89,572,818 (GRCm39) T26I probably benign Het
Mpdz T C 4: 81,287,960 (GRCm39) D433G probably damaging Het
Nostrin T C 2: 69,014,336 (GRCm39) S431P probably benign Het
Pdcd1lg2 A T 19: 29,423,462 (GRCm39) T169S possibly damaging Het
Plekha7 A T 7: 115,734,419 (GRCm39) M1006K probably damaging Het
Rgs6 A T 12: 83,098,097 (GRCm39) I94F probably benign Het
Rims2 A T 15: 39,370,380 (GRCm39) D938V probably damaging Het
Slc4a8 A G 15: 100,705,319 (GRCm39) T842A possibly damaging Het
Spata21 C A 4: 140,838,675 (GRCm39) probably null Het
Stk32a C T 18: 43,443,510 (GRCm39) T229I possibly damaging Het
Tent4b C T 8: 88,978,886 (GRCm39) Q63* probably null Het
Trim33 C T 3: 103,237,498 (GRCm39) P185S probably benign Het
Tspoap1 A G 11: 87,668,647 (GRCm39) probably null Het
Vcan A G 13: 89,840,438 (GRCm39) V742A probably benign Het
Vrtn A T 12: 84,695,837 (GRCm39) I196F probably benign Het
Wasf1 A T 10: 40,796,293 (GRCm39) I8F probably damaging Het
Ythdc2 A G 18: 44,980,879 (GRCm39) I491M probably damaging Het
Zfp292 T C 4: 34,809,775 (GRCm39) T1095A possibly damaging Het
Other mutations in Ndufb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
Z31818:Ndufb5 UTSW 3 32,800,610 (GRCm39) missense probably benign 0.19
Posted On 2012-04-20