Incidental Mutation 'IGL01433:Ndufc1'
ID 84250
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufc1
Ensembl Gene ENSMUSG00000037152
Gene Name NADH:ubiquinone oxidoreductase subunit C1
Synonyms 2310016K22Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.724) question?
Stock # IGL01433
Quality Score
Status
Chromosome 3
Chromosomal Location 51312098-51316409 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51314797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 70 (K70E)
Ref Sequence ENSEMBL: ENSMUSP00000141933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038108] [ENSMUST00000193279]
AlphaFold Q9CQY9
Predicted Effect possibly damaging
Transcript: ENSMUST00000038108
AA Change: K70E

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038463
Gene: ENSMUSG00000037152
AA Change: K70E

DomainStartEndE-ValueType
Pfam:NADH_dh_m_C1 28 76 3.1e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135602
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145572
Predicted Effect possibly damaging
Transcript: ENSMUST00000193279
AA Change: K70E

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141933
Gene: ENSMUSG00000037152
AA Change: K70E

DomainStartEndE-ValueType
Pfam:NADH_dh_m_C1 28 76 3.7e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194242
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt3 C T 3: 30,652,188 (GRCm39) G302D probably damaging Het
Adam19 T C 11: 46,003,610 (GRCm39) L146P probably damaging Het
Adcy8 T A 15: 64,609,263 (GRCm39) Y852F possibly damaging Het
Arfgef1 T C 1: 10,223,657 (GRCm39) T1520A probably damaging Het
Atp8b1 C T 18: 64,706,590 (GRCm39) V199I probably benign Het
Avl9 A G 6: 56,730,382 (GRCm39) D575G probably damaging Het
Bcam C A 7: 19,494,107 (GRCm39) V395L possibly damaging Het
Bltp1 T G 3: 36,941,919 (GRCm39) S241R probably damaging Het
Ccdc198 G T 14: 49,473,341 (GRCm39) T128K probably benign Het
Cgn T A 3: 94,686,769 (GRCm39) N178Y probably damaging Het
D5Ertd579e A T 5: 36,776,098 (GRCm39) D168E probably damaging Het
Dnah17 G T 11: 117,940,760 (GRCm39) T3288K probably damaging Het
Ednrb A T 14: 104,080,626 (GRCm39) I96N probably damaging Het
Gdpd3 A G 7: 126,370,356 (GRCm39) I264V possibly damaging Het
Itih4 T C 14: 30,617,405 (GRCm39) V575A probably benign Het
Jhy G A 9: 40,828,512 (GRCm39) R465C possibly damaging Het
Kcna4 C T 2: 107,127,078 (GRCm39) S604F probably damaging Het
Kcnj6 A G 16: 94,633,814 (GRCm39) V99A probably benign Het
Kdm2a A G 19: 4,392,888 (GRCm39) I489T possibly damaging Het
Kif13a A G 13: 46,926,384 (GRCm39) S241P probably damaging Het
Lax1 T C 1: 133,608,137 (GRCm39) I201M probably benign Het
Lzic T A 4: 149,572,604 (GRCm39) S65T probably benign Het
Marchf9 T C 10: 126,892,562 (GRCm39) T309A probably benign Het
Optn T C 2: 5,031,955 (GRCm39) K504R probably benign Het
Or51q1 A T 7: 103,628,539 (GRCm39) I53F probably damaging Het
Pagr1a A G 7: 126,614,647 (GRCm39) probably benign Het
Pold1 G A 7: 44,192,656 (GRCm39) probably benign Het
Ptprq A G 10: 107,412,741 (GRCm39) I1786T probably damaging Het
Rgs20 T C 1: 5,140,300 (GRCm39) D34G possibly damaging Het
Rnps1 T C 17: 24,643,519 (GRCm39) probably null Het
Rpgrip1 T C 14: 52,363,834 (GRCm39) V261A probably damaging Het
Sfxn1 A G 13: 54,247,935 (GRCm39) N220S probably benign Het
Slc35f1 T A 10: 52,949,542 (GRCm39) probably benign Het
Slc5a4b T C 10: 75,906,329 (GRCm39) probably benign Het
Snx19 A G 9: 30,340,067 (GRCm39) I402V possibly damaging Het
Spaca6 T C 17: 18,051,429 (GRCm39) V35A probably benign Het
Taar2 A G 10: 23,816,657 (GRCm39) T66A probably benign Het
Tanc2 C T 11: 105,701,348 (GRCm39) H288Y possibly damaging Het
Tbc1d31 A G 15: 57,804,164 (GRCm39) Q393R probably benign Het
Trpm1 A G 7: 63,854,276 (GRCm39) Y133C probably damaging Het
Vmn2r105 T C 17: 20,448,817 (GRCm39) D120G probably benign Het
Vmn2r56 C A 7: 12,449,541 (GRCm39) M232I probably benign Het
Vps35l A G 7: 118,373,274 (GRCm39) probably null Het
Zfp251 C T 15: 76,738,755 (GRCm39) V113I probably benign Het
Other mutations in Ndufc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1639:Ndufc1 UTSW 3 51,315,664 (GRCm39) missense probably benign
R1642:Ndufc1 UTSW 3 51,315,664 (GRCm39) missense probably benign
R1643:Ndufc1 UTSW 3 51,315,664 (GRCm39) missense probably benign
R1926:Ndufc1 UTSW 3 51,314,816 (GRCm39) missense probably benign 0.01
R2428:Ndufc1 UTSW 3 51,315,564 (GRCm39) critical splice donor site probably null
R8433:Ndufc1 UTSW 3 51,316,311 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-11