Incidental Mutation 'R7755:Ndufb9'
ID 597522
Institutional Source Beutler Lab
Gene Symbol Ndufb9
Ensembl Gene ENSMUSG00000022354
Gene Name NADH:ubiquinone oxidoreductase subunit B9
Synonyms 1190008J14Rik
MMRRC Submission 045811-MU
Accession Numbers
Essential gene? Not available question?
Stock # R7755 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 58805650-58811365 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to G at 58808255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 80 (Y80*)
Ref Sequence ENSEMBL: ENSMUSP00000022980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022980] [ENSMUST00000080371] [ENSMUST00000110155] [ENSMUST00000226707] [ENSMUST00000226835] [ENSMUST00000226931] [ENSMUST00000227540] [ENSMUST00000228538] [ENSMUST00000228787]
AlphaFold Q9CQJ8
Predicted Effect probably null
Transcript: ENSMUST00000022980
AA Change: Y80*
SMART Domains Protein: ENSMUSP00000022980
Gene: ENSMUSG00000022354
AA Change: Y80*

DomainStartEndE-ValueType
Pfam:Complex1_LYR 13 73 1.2e-11 PFAM
Pfam:Complex1_LYR_1 14 74 5.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080371
SMART Domains Protein: ENSMUSP00000079239
Gene: ENSMUSG00000022353

DomainStartEndE-ValueType
Pfam:IMD 16 241 2.1e-107 PFAM
low complexity region 257 309 N/A INTRINSIC
low complexity region 443 459 N/A INTRINSIC
low complexity region 612 628 N/A INTRINSIC
WH2 731 748 1.36e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110155
SMART Domains Protein: ENSMUSP00000105783
Gene: ENSMUSG00000050891

DomainStartEndE-ValueType
Pfam:TatD_DNase 7 263 2.4e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226707
Predicted Effect probably benign
Transcript: ENSMUST00000226835
Predicted Effect probably benign
Transcript: ENSMUST00000226931
Predicted Effect probably benign
Transcript: ENSMUST00000227540
Predicted Effect probably benign
Transcript: ENSMUST00000228538
Predicted Effect probably benign
Transcript: ENSMUST00000228787
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (52/53)
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 mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in oxidative phosphorylation disorders and results in a range of conditions, including lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,236,187 (GRCm39) M1179I probably benign Het
4930402F06Rik T C 2: 35,266,349 (GRCm39) Y107C probably damaging Het
Aff4 T C 11: 53,289,206 (GRCm39) S452P probably damaging Het
Astn2 T C 4: 65,712,795 (GRCm39) D615G probably damaging Het
Begain A G 12: 109,018,802 (GRCm39) L215P probably benign Het
Carf T A 1: 60,187,214 (GRCm39) S606T probably benign Het
Cngb3 A T 4: 19,461,684 (GRCm39) T522S probably benign Het
Ctsll3 A T 13: 60,948,219 (GRCm39) F153I probably damaging Het
Cubn G A 2: 13,284,889 (GRCm39) T3509I probably benign Het
Dmrta1 T C 4: 89,580,170 (GRCm39) S377P probably benign Het
Dnmbp G A 19: 43,838,525 (GRCm39) A659V probably benign Het
Dspp TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG 5: 104,326,227 (GRCm39) probably benign Het
Dync2h1 T C 9: 7,015,490 (GRCm39) D3598G probably benign Het
Elp1 T C 4: 56,774,552 (GRCm39) N779S possibly damaging Het
Flot2 T C 11: 77,940,339 (GRCm39) F29L probably benign Het
Hectd1 A T 12: 51,849,003 (GRCm39) I367K possibly damaging Het
Ivl T A 3: 92,479,317 (GRCm39) K249N probably damaging Het
Khnyn A G 14: 56,125,425 (GRCm39) T503A probably damaging Het
Mbd4 T A 6: 115,821,546 (GRCm39) I490F probably damaging Het
Mlip T C 9: 77,136,838 (GRCm39) T690A probably benign Het
Mmp1a T A 9: 7,467,005 (GRCm39) D227E possibly damaging Het
Mrgprf T C 7: 144,862,380 (GRCm39) L314P probably damaging Het
Neto2 C T 8: 86,396,285 (GRCm39) R155H probably damaging Het
Npat T A 9: 53,470,470 (GRCm39) N365K possibly damaging Het
Nsl1 G A 1: 190,795,380 (GRCm39) V49M probably benign Het
Nudt21 T A 8: 94,749,493 (GRCm39) Y191F probably benign Het
Or2w25 A G 11: 59,504,467 (GRCm39) R226G probably damaging Het
Or8b54 T G 9: 38,687,073 (GRCm39) I174S possibly damaging Het
Pcdh18 T C 3: 49,709,278 (GRCm39) Y679C possibly damaging Het
Pkd1l3 A G 8: 110,356,798 (GRCm39) D741G possibly damaging Het
Pkhd1 T C 1: 20,617,717 (GRCm39) D956G probably damaging Het
Poglut2 T C 1: 44,157,733 (GRCm39) probably benign Het
Pparg C T 6: 115,440,067 (GRCm39) P214S probably damaging Het
Ppargc1a T A 5: 51,630,883 (GRCm39) Y582F unknown Het
Prdm9 C T 17: 15,765,226 (GRCm39) C518Y probably damaging Het
Rangrf T A 11: 68,864,540 (GRCm39) E2V probably damaging Het
Rpl19 T C 11: 97,919,193 (GRCm39) I45T probably benign Het
Rtn4rl2 T C 2: 84,702,807 (GRCm39) D255G possibly damaging Het
Shld2 T C 14: 33,970,847 (GRCm39) K627E probably damaging Het
Sirt3 T C 7: 140,457,963 (GRCm39) D62G Het
Slc22a30 T C 19: 8,314,133 (GRCm39) T518A probably damaging Het
Slc40a1 T C 1: 45,950,466 (GRCm39) T329A probably damaging Het
Slc6a17 C T 3: 107,381,671 (GRCm39) G470D probably damaging Het
Syne2 A T 12: 76,044,181 (GRCm39) I3923L probably benign Het
Tiam2 C T 17: 3,471,591 (GRCm39) S411L probably benign Het
Ticam1 A G 17: 56,577,182 (GRCm39) C638R unknown Het
Tnrc6c A G 11: 117,648,912 (GRCm39) T1528A probably benign Het
Ufl1 A G 4: 25,262,274 (GRCm39) I404T probably benign Het
Usp43 A T 11: 67,782,294 (GRCm39) S375T possibly damaging Het
Vmn2r88 C G 14: 51,650,503 (GRCm39) A72G probably benign Het
Vmn2r91 A T 17: 18,330,311 (GRCm39) I532F possibly damaging Het
Vmn2r95 T C 17: 18,644,367 (GRCm39) M1T probably null Het
Xirp2 T C 2: 67,345,526 (GRCm39) V2589A probably benign Het
Zfp128 C T 7: 12,624,240 (GRCm39) Q203* probably null Het
Other mutations in Ndufb9
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0211:Ndufb9 UTSW 15 58,811,131 (GRCm39) missense possibly damaging 0.86
R9087:Ndufb9 UTSW 15 58,811,151 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACGGTTCTGATGTCCACACTC -3'
(R):5'- GCTTTGCCAAAAGTACACTGCC -3'

Sequencing Primer
(F):5'- CCACACTCATTTCGATTTAAGGGAC -3'
(R):5'- GTACACTGCCAAACCTTAGAGCTG -3'
Posted On 2019-11-26