Incidental Mutation 'R8433:Ndufc1'
ID 653847
Institutional Source Beutler Lab
Gene Symbol Ndufc1
Ensembl Gene ENSMUSG00000037152
Gene Name NADH:ubiquinone oxidoreductase subunit C1
Synonyms 2310016K22Rik
MMRRC Submission 067823-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.724) question?
Stock # R8433 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 51312098-51316409 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51316311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 14 (L14P)
Ref Sequence ENSEMBL: ENSMUSP00000038463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038108] [ENSMUST00000193279]
AlphaFold Q9CQY9
Predicted Effect probably damaging
Transcript: ENSMUST00000038108
AA Change: L14P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038463
Gene: ENSMUSG00000037152
AA Change: L14P

DomainStartEndE-ValueType
Pfam:NADH_dh_m_C1 28 76 3.1e-34 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000193279
AA Change: L14P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141933
Gene: ENSMUSG00000037152
AA Change: L14P

DomainStartEndE-ValueType
Pfam:NADH_dh_m_C1 28 76 3.7e-32 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armh1 A G 4: 117,085,535 (GRCm39) V227A probably benign Het
Cfhr1 A T 1: 139,485,276 (GRCm39) Y57N probably damaging Het
Chtf18 A G 17: 25,945,918 (GRCm39) S90P probably benign Het
Eral1 A G 11: 77,966,309 (GRCm39) S290P probably benign Het
Foxk1 T C 5: 142,434,539 (GRCm39) F268L probably benign Het
Gsta3 A G 1: 21,335,172 (GRCm39) K218E probably benign Het
Mapk8ip2 G A 15: 89,342,069 (GRCm39) A427T probably benign Het
Mtch2 T A 2: 90,677,505 (GRCm39) probably benign Het
Or55b4 A T 7: 102,133,991 (GRCm39) I112N probably benign Het
Or56a3b T C 7: 104,770,931 (GRCm39) F89S probably damaging Het
Or8k53 G A 2: 86,177,144 (GRCm39) P322L unknown Het
Parn C A 16: 13,485,413 (GRCm39) D28Y probably damaging Het
Phldb1 C T 9: 44,627,759 (GRCm39) G229R probably damaging Het
Prpf3 A G 3: 95,758,963 (GRCm39) V63A probably damaging Het
Ptger3 A C 3: 157,349,592 (GRCm39) *363C probably null Het
Rnf6 A G 5: 146,148,088 (GRCm39) V310A probably damaging Het
Scarf1 G A 11: 75,411,858 (GRCm39) probably null Het
Slc5a6 G A 5: 31,194,806 (GRCm39) A530V possibly damaging Het
Sorcs3 C T 19: 48,194,913 (GRCm39) R99W possibly damaging Het
Svop A G 5: 114,170,822 (GRCm39) C406R probably benign Het
Tnn G A 1: 159,924,790 (GRCm39) S1452L possibly damaging Het
Tpx2 A G 2: 152,722,056 (GRCm39) E216G probably damaging Het
Trim39 A G 17: 36,571,597 (GRCm39) V387A possibly damaging Het
Unc80 A T 1: 66,677,187 (GRCm39) K2039* probably null Het
Vps13a A T 19: 16,718,600 (GRCm39) L464I possibly damaging Het
Wdr35 G A 12: 9,058,495 (GRCm39) D562N probably damaging Het
Zfp541 C T 7: 15,805,999 (GRCm39) L45F probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zswim5 A G 4: 116,844,007 (GRCm39) Y1015C possibly damaging Het
Other mutations in Ndufc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01433:Ndufc1 APN 3 51,314,797 (GRCm39) missense possibly damaging 0.91
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
Predicted Primers PCR Primer
(F):5'- GGTTTAGCCTGGAGGAAAGC -3'
(R):5'- ATGAAGGTAGGAGTCTGGCC -3'

Sequencing Primer
(F):5'- TTTAGCCTGGAGGAAAGCTGACG -3'
(R):5'- TAGGAGTCTGGCCCACCTG -3'
Posted On 2020-10-20