Incidental Mutation 'R5742:Ndufb5'
ID 445599
Institutional Source Beutler Lab
Gene Symbol Ndufb5
Ensembl Gene ENSMUSG00000027673
Gene Name NADH:ubiquinone oxidoreductase subunit B5
Synonyms 0610007D05Rik
MMRRC Submission 043352-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.530) question?
Stock # R5742 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 32791206-32805708 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32801930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 112 (Y112H)
Ref Sequence ENSEMBL: ENSMUSP00000113169 (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 damaging
Transcript: ENSMUST00000121778
AA Change: Y112H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113169
Gene: ENSMUSG00000027673
AA Change: Y112H

DomainStartEndE-ValueType
Pfam:NDUF_B5 1 163 5.1e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000122290
AA Change: Y42H

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113602
Gene: ENSMUSG00000027673
AA Change: Y42H

DomainStartEndE-ValueType
Pfam:NDUF_B5 1 119 1.1e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000127477
AA Change: Y112H

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114963
Gene: ENSMUSG00000027673
AA Change: Y112H

DomainStartEndE-ValueType
Pfam:NDUF_B5 1 189 3.5e-91 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000139593
AA Change: Y110H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115088
Gene: ENSMUSG00000027673
AA Change: Y110H

DomainStartEndE-ValueType
Pfam:NDUF_B5 6 172 6e-79 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000154257
AA Change: Y97H

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117240
Gene: ENSMUSG00000027673
AA Change: Y97H

DomainStartEndE-ValueType
Pfam:NDUF_B5 1 135 8.4e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156174
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C T 11: 72,056,379 (GRCm39) A794T possibly damaging Het
Abca9 T G 11: 110,051,243 (GRCm39) E151A probably damaging Het
Abcb5 A G 12: 118,881,992 (GRCm39) V579A probably damaging Het
Apob T A 12: 8,057,191 (GRCm39) L1858Q probably damaging Het
Cerk C T 15: 86,025,773 (GRCm39) E223K probably damaging Het
Cntnap2 T A 6: 45,897,860 (GRCm39) Y179* probably null Het
Ddx60 A T 8: 62,401,955 (GRCm39) Y277F probably benign Het
Dlgap1 T G 17: 71,025,194 (GRCm39) V538G probably benign Het
Duox2 A G 2: 122,115,402 (GRCm39) I1050T probably benign Het
Dusp10 A G 1: 183,769,853 (GRCm39) probably null Het
Dync2h1 T A 9: 7,165,762 (GRCm39) I500F possibly damaging Het
Erich3 T A 3: 154,438,960 (GRCm39) C398S probably damaging Het
Fez1 G A 9: 36,761,743 (GRCm39) probably null Het
Fkbp3 A C 12: 65,116,812 (GRCm39) H41Q probably benign Het
Fras1 C G 5: 96,916,240 (GRCm39) Q3425E possibly damaging Het
Fuca1 T C 4: 135,650,286 (GRCm39) V119A probably damaging Het
Grhl2 A G 15: 37,328,616 (GRCm39) K414R probably damaging Het
Heatr5a A T 12: 52,002,335 (GRCm39) C200* probably null Het
Hmgcs2 A G 3: 98,204,832 (GRCm39) N330S probably benign Het
Hspd1 A G 1: 55,123,766 (GRCm39) V118A probably benign Het
Jmjd1c A G 10: 67,056,112 (GRCm39) T511A probably benign Het
Kat6b T C 14: 21,718,503 (GRCm39) S1061P probably damaging Het
Kcnh6 T C 11: 105,899,968 (GRCm39) V79A probably benign Het
Kel C T 6: 41,675,961 (GRCm39) G243E probably damaging Het
Klc4 C T 17: 46,953,197 (GRCm39) R111Q probably damaging Het
Lrp1 T C 10: 127,384,216 (GRCm39) D3641G probably damaging Het
Map2k1 A T 9: 64,101,053 (GRCm39) D208E probably damaging Het
Masp1 T A 16: 23,273,675 (GRCm39) M588L probably benign Het
Mgl2 T A 11: 70,027,510 (GRCm39) N239K probably benign Het
Mki67 G A 7: 135,306,102 (GRCm39) T625M probably benign Het
Npr3 A G 15: 11,883,494 (GRCm39) S312P probably damaging Het
Nuf2 A T 1: 169,344,191 (GRCm39) I125N probably damaging Het
Obox1 G A 7: 15,289,430 (GRCm39) G73D possibly damaging Het
Odad4 G A 11: 100,436,699 (GRCm39) G25R possibly damaging Het
Or51a43 G T 7: 103,717,412 (GRCm39) H275Q probably damaging Het
Or8g19 T A 9: 39,055,974 (GRCm39) F193I probably benign Het
Pcdhb15 T C 18: 37,607,820 (GRCm39) S351P probably damaging Het
Phc2 G T 4: 128,639,661 (GRCm39) R121L probably damaging Het
Pla2g2a A G 4: 138,560,653 (GRCm39) K87E probably benign Het
Plekhh2 T A 17: 84,905,408 (GRCm39) S1101T probably damaging Het
Ppp4r1 T C 17: 66,144,741 (GRCm39) I786T probably damaging Het
Prxl2a T C 14: 40,724,460 (GRCm39) E57G possibly damaging Het
Ros1 A T 10: 52,018,234 (GRCm39) probably null Het
Styxl2 A T 1: 165,927,023 (GRCm39) V863E probably benign Het
Trnt1 T A 6: 106,755,878 (GRCm39) L311* probably null Het
Vmn1r47 T A 6: 89,999,500 (GRCm39) L211M probably damaging Het
Zfp12 A G 5: 143,230,945 (GRCm39) E424G probably damaging Het
Zranb2 T A 3: 157,246,340 (GRCm39) Y17* probably null 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
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
Predicted Primers PCR Primer
(F):5'- CTCATGAGGGACTGATCTGC -3'
(R):5'- AGAGGAACCAAATTCTACTGACCAG -3'

Sequencing Primer
(F):5'- ATCTGCCCCGGGGAGTTTAG -3'
(R):5'- AGATGGCTCAGCAGTTTAGATCCC -3'
Posted On 2016-11-21