Incidental Mutation 'R9244:Ndufb5'
ID 701137
Institutional Source Beutler Lab
Gene Symbol Ndufb5
Ensembl Gene ENSMUSG00000027673
Gene Name NADH:ubiquinone oxidoreductase subunit B5
Synonyms 0610007D05Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.579) question?
Stock # R9244 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 32791206-32805708 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 32795906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 33 (Q33K)
Ref Sequence ENSEMBL: ENSMUSP00000115088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029217] [ENSMUST00000043966] [ENSMUST00000121778] [ENSMUST00000122290] [ENSMUST00000127477] [ENSMUST00000139593] [ENSMUST00000154257]
AlphaFold Q9CQH3
Predicted Effect probably benign
Transcript: ENSMUST00000029217
Predicted Effect probably benign
Transcript: ENSMUST00000043966
SMART Domains Protein: ENSMUSP00000048078
Gene: ENSMUSG00000037531

DomainStartEndE-ValueType
Pfam:MRP-L47 66 151 4.6e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121778
SMART Domains Protein: ENSMUSP00000113169
Gene: ENSMUSG00000027673

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 benign
Transcript: ENSMUST00000127477
SMART Domains Protein: ENSMUSP00000114963
Gene: ENSMUSG00000027673

DomainStartEndE-ValueType
Pfam:NDUF_B5 1 189 3.5e-91 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000139593
AA Change: Q33K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000115088
Gene: ENSMUSG00000027673
AA Change: Q33K

DomainStartEndE-ValueType
Pfam:NDUF_B5 6 172 6e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154257
SMART Domains Protein: ENSMUSP00000117240
Gene: ENSMUSG00000027673

DomainStartEndE-ValueType
Pfam:NDUF_B5 1 135 8.4e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156174
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (55/55)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,241,577 (GRCm39) I1147V probably benign Het
Adcy10 A G 1: 165,370,679 (GRCm39) T653A probably benign Het
App A G 16: 84,759,629 (GRCm39) I656T probably damaging Het
Arnt T A 3: 95,397,879 (GRCm39) I574N possibly damaging Het
Cdc42 T C 4: 137,056,391 (GRCm39) T75A probably benign Het
Cdh23 C A 10: 60,249,442 (GRCm39) K822N possibly damaging Het
Chrnb3 T A 8: 27,884,594 (GRCm39) L444I unknown Het
Ctnnbl1 G T 2: 157,678,583 (GRCm39) K395N possibly damaging Het
Dmxl1 T A 18: 50,026,316 (GRCm39) I1808K probably benign Het
Dnajb8 C A 6: 88,199,884 (GRCm39) P140Q probably damaging Het
Dock5 G A 14: 67,996,563 (GRCm39) R1727W probably damaging Het
Dscam G A 16: 96,486,429 (GRCm39) T1082I possibly damaging Het
Eaf1 T C 14: 31,219,766 (GRCm39) probably benign Het
Elapor2 A G 5: 9,460,700 (GRCm39) Y207C probably damaging Het
Enpp3 T C 10: 24,654,689 (GRCm39) D663G probably damaging Het
Epha5 A G 5: 84,265,441 (GRCm39) V451A probably benign Het
Erap1 G A 13: 74,821,903 (GRCm39) probably null Het
Esco2 A G 14: 66,059,088 (GRCm39) W530R probably damaging Het
Fhip1b A G 7: 105,038,870 (GRCm39) V123A possibly damaging Het
Fhod3 T C 18: 25,248,922 (GRCm39) I1367T probably damaging Het
Fryl T C 5: 73,348,862 (GRCm39) probably benign Het
Get1 A G 16: 95,955,383 (GRCm39) T147A probably benign Het
Gm42669 A G 5: 107,656,370 (GRCm39) T295A possibly damaging Het
Harbi1 A G 2: 91,543,040 (GRCm39) N167S probably damaging Het
Hfm1 A C 5: 107,022,766 (GRCm39) N945K probably damaging Het
Hook3 A G 8: 26,561,084 (GRCm39) probably null Het
Htr1f G T 16: 64,746,857 (GRCm39) T145K probably benign Het
Igf2bp2 A C 16: 21,886,901 (GRCm39) S453A possibly damaging Het
Ipo4 A T 14: 55,871,799 (GRCm39) W116R probably damaging Het
Jak1 T C 4: 101,015,040 (GRCm39) H917R probably benign Het
Klrb1b A T 6: 128,792,245 (GRCm39) C189* probably null Het
Lrrn2 A G 1: 132,865,058 (GRCm39) Y41C probably damaging Het
Lrrn2 T C 1: 132,865,237 (GRCm39) S101P probably damaging Het
Mcmdc2 C T 1: 9,985,835 (GRCm39) T127I probably damaging Het
Mtch1 C A 17: 29,566,626 (GRCm39) A46S unknown Het
Nufip2 T C 11: 77,583,475 (GRCm39) V463A probably damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or2r3 T A 6: 42,448,537 (GRCm39) I192F possibly damaging Het
Or5p62 A G 7: 107,771,852 (GRCm39) I33T probably benign Het
Or6d12 G A 6: 116,492,782 (GRCm39) V15I probably benign Het
Or8j3c A T 2: 86,253,423 (GRCm39) V199E probably damaging Het
Pira13 T C 7: 3,825,226 (GRCm39) D472G unknown Het
Ppip5k1 A C 2: 121,164,932 (GRCm39) S972A probably benign Het
Prl8a2 A T 13: 27,534,982 (GRCm39) M86L probably benign Het
Prorsd1 T C 11: 29,463,271 (GRCm39) I164V probably benign Het
Ptgs1 A G 2: 36,130,724 (GRCm39) T208A probably damaging Het
Ptpn3 A T 4: 57,254,915 (GRCm39) probably null Het
Reln T C 5: 22,120,151 (GRCm39) R2834G probably damaging Het
Shc4 G T 2: 125,497,589 (GRCm39) Y373* probably null Het
Skor1 A T 9: 63,049,524 (GRCm39) probably null Het
Slc9a4 T C 1: 40,658,249 (GRCm39) S591P probably damaging Het
Stat2 A G 10: 128,118,634 (GRCm39) E389G possibly damaging Het
Trav14n-3 C A 14: 53,608,004 (GRCm39) D111E probably damaging Het
Unc5c A G 3: 141,533,370 (GRCm39) S873G probably benign Het
Vmn1r210 T C 13: 23,012,089 (GRCm39) I66V probably benign Het
Vmn2r117 T A 17: 23,696,589 (GRCm39) I273F probably damaging Het
Vmn2r95 T A 17: 18,672,189 (GRCm39) M714K possibly damaging Het
Zfp235 A G 7: 23,839,919 (GRCm39) T113A probably benign Het
Zranb1 T G 7: 132,585,640 (GRCm39) L696R probably 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
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'- GTAGAGCCCTCTTTCCTCAATG -3'
(R):5'- TCCATTCCAGAGCTCGGTTG -3'

Sequencing Primer
(F):5'- AAATGGGTAGTCAGTTGAGCTCCC -3'
(R):5'- CCATTCCAGAGCTCGGTTGTTTTG -3'
Posted On 2022-03-25