Incidental Mutation 'R2294:Ndufs1'
ID 245089
Institutional Source Beutler Lab
Gene Symbol Ndufs1
Ensembl Gene ENSMUSG00000025968
Gene Name NADH:ubiquinone oxidoreductase core subunit S1
Synonyms 9930026A05Rik, 5830412M15Rik
MMRRC Submission 040293-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2294 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 63182751-63215981 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 63200155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 252 (D252E)
Ref Sequence ENSEMBL: ENSMUSP00000126621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027111] [ENSMUST00000168099] [ENSMUST00000185732] [ENSMUST00000188370] [ENSMUST00000185847]
AlphaFold Q91VD9
Predicted Effect probably damaging
Transcript: ENSMUST00000027111
AA Change: D252E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027111
Gene: ENSMUSG00000025968
AA Change: D252E

DomainStartEndE-ValueType
Pfam:Fer2_4 29 107 8.5e-20 PFAM
Pfam:Fer2 34 97 1e-11 PFAM
NADH-G_4Fe-4S_3 113 153 6.5e-19 SMART
Pfam:Molybdopterin 301 629 1e-76 PFAM
Pfam:NADH_dhqG_C 658 710 1.5e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140612
Predicted Effect probably damaging
Transcript: ENSMUST00000168099
AA Change: D252E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126621
Gene: ENSMUSG00000025968
AA Change: D252E

DomainStartEndE-ValueType
Pfam:Fer2_4 29 107 4.3e-19 PFAM
Pfam:Fer2 34 97 1e-11 PFAM
NADH-G_4Fe-4S_3 113 153 6.5e-19 SMART
Pfam:Molybdopterin 301 629 1e-76 PFAM
Pfam:DUF1982 657 710 3.6e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185732
SMART Domains Protein: ENSMUSP00000140307
Gene: ENSMUSG00000025968

DomainStartEndE-ValueType
Pfam:Fer2_4 29 107 4.4e-18 PFAM
Pfam:Fer2 34 97 6.2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188602
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185827
Predicted Effect probably benign
Transcript: ENSMUST00000188370
SMART Domains Protein: ENSMUSP00000139664
Gene: ENSMUSG00000025968

DomainStartEndE-ValueType
Pfam:Fer2_4 29 96 1.1e-13 PFAM
Pfam:Fer2 34 127 1.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185847
SMART Domains Protein: ENSMUSP00000141190
Gene: ENSMUSG00000025968

DomainStartEndE-ValueType
Pfam:Molybdopterin 1 60 5.7e-5 PFAM
Meta Mutation Damage Score 0.9086 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (30/30)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the complex I 75 kDa subunit family. 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. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several 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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 C T 15: 98,495,322 (GRCm39) V673I possibly damaging Het
Bsn C T 9: 107,990,266 (GRCm39) A1829T possibly damaging Het
Chchd3 T C 6: 32,829,122 (GRCm39) E166G probably damaging Het
Chrna7 A T 7: 62,760,172 (GRCm39) S135T probably benign Het
Dxo G A 17: 35,057,962 (GRCm39) probably null Het
Fbxw18 A G 9: 109,505,865 (GRCm39) S469P probably damaging Het
G3bp2 G A 5: 92,205,887 (GRCm39) R290C probably damaging Het
Hydin T C 8: 111,026,591 (GRCm39) L103P probably damaging Het
Lrig3 C T 10: 125,802,363 (GRCm39) R7* probably null Het
Lrp6 A G 6: 134,434,705 (GRCm39) C1333R probably damaging Het
Luzp2 T C 7: 54,821,938 (GRCm39) probably benign Het
Lypd8 A T 11: 58,277,680 (GRCm39) N154I probably damaging Het
Nos3 T A 5: 24,569,855 (GRCm39) V7E probably damaging Het
Or1e33 A G 11: 73,738,312 (GRCm39) L213P probably damaging Het
Osbpl6 A T 2: 76,407,423 (GRCm39) D446V possibly damaging Het
Pik3c2b C A 1: 132,994,513 (GRCm39) P159H probably damaging Het
Pkhd1l1 C T 15: 44,343,003 (GRCm39) T160I probably damaging Het
Prelid3a C T 18: 67,605,941 (GRCm39) T16M probably damaging Het
Prl7b1 A T 13: 27,786,854 (GRCm39) M125K possibly damaging Het
Rars1 C A 11: 35,708,363 (GRCm39) probably benign Het
Ripk1 A G 13: 34,200,991 (GRCm39) T235A probably benign Het
Slc38a2 C A 15: 96,589,643 (GRCm39) V363L probably benign Het
Slc6a21 G A 7: 44,929,952 (GRCm39) A147T possibly damaging Het
Tgfb3 T C 12: 86,116,684 (GRCm39) N118S probably benign Het
Tmem175 T C 5: 108,786,525 (GRCm39) probably benign Het
Tmem232 A T 17: 65,757,436 (GRCm39) N252K probably benign Het
Trappc8 G T 18: 20,999,211 (GRCm39) C305* probably null Het
Tyro3 T C 2: 119,636,126 (GRCm39) V223A probably damaging Het
Yipf2 C T 9: 21,501,177 (GRCm39) V74M probably damaging Het
Other mutations in Ndufs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:Ndufs1 APN 1 63,203,976 (GRCm39) missense probably damaging 0.99
IGL01655:Ndufs1 APN 1 63,190,716 (GRCm39) missense probably damaging 1.00
IGL02532:Ndufs1 APN 1 63,209,298 (GRCm39) missense probably damaging 0.99
IGL02606:Ndufs1 APN 1 63,199,011 (GRCm39) missense probably damaging 1.00
IGL02866:Ndufs1 APN 1 63,186,300 (GRCm39) missense probably benign 0.00
IGL03036:Ndufs1 APN 1 63,202,855 (GRCm39) nonsense probably null
IGL03209:Ndufs1 APN 1 63,203,896 (GRCm39) missense probably damaging 1.00
PIT4142001:Ndufs1 UTSW 1 63,198,907 (GRCm39) unclassified probably benign
R0165:Ndufs1 UTSW 1 63,198,907 (GRCm39) critical splice donor site probably null
R0505:Ndufs1 UTSW 1 63,183,085 (GRCm39) splice site probably benign
R1861:Ndufs1 UTSW 1 63,186,576 (GRCm39) missense probably benign 0.17
R2872:Ndufs1 UTSW 1 63,203,882 (GRCm39) splice site probably benign
R2873:Ndufs1 UTSW 1 63,203,882 (GRCm39) splice site probably benign
R4092:Ndufs1 UTSW 1 63,196,405 (GRCm39) missense possibly damaging 0.55
R4277:Ndufs1 UTSW 1 63,209,256 (GRCm39) missense possibly damaging 0.84
R4782:Ndufs1 UTSW 1 63,200,108 (GRCm39) missense probably damaging 1.00
R4799:Ndufs1 UTSW 1 63,200,108 (GRCm39) missense probably damaging 1.00
R4993:Ndufs1 UTSW 1 63,202,935 (GRCm39) missense probably benign
R5051:Ndufs1 UTSW 1 63,204,106 (GRCm39) critical splice donor site probably null
R5412:Ndufs1 UTSW 1 63,205,508 (GRCm39) missense possibly damaging 0.79
R5632:Ndufs1 UTSW 1 63,189,218 (GRCm39) missense probably benign 0.00
R5705:Ndufs1 UTSW 1 63,186,317 (GRCm39) missense probably benign 0.05
R5854:Ndufs1 UTSW 1 63,186,548 (GRCm39) missense probably benign 0.05
R5919:Ndufs1 UTSW 1 63,182,991 (GRCm39) makesense probably null
R6598:Ndufs1 UTSW 1 63,204,109 (GRCm39) missense probably null 1.00
R7716:Ndufs1 UTSW 1 63,192,016 (GRCm39) missense possibly damaging 0.95
R7744:Ndufs1 UTSW 1 63,200,099 (GRCm39) missense possibly damaging 0.89
R7785:Ndufs1 UTSW 1 63,186,558 (GRCm39) missense probably damaging 0.98
R8108:Ndufs1 UTSW 1 63,189,171 (GRCm39) missense possibly damaging 0.47
R8200:Ndufs1 UTSW 1 63,209,331 (GRCm39) splice site probably null
R8491:Ndufs1 UTSW 1 63,196,384 (GRCm39) missense probably damaging 1.00
R9007:Ndufs1 UTSW 1 63,198,878 (GRCm39) unclassified probably benign
R9179:Ndufs1 UTSW 1 63,209,274 (GRCm39) missense probably benign 0.01
Z1176:Ndufs1 UTSW 1 63,202,995 (GRCm39) missense probably damaging 1.00
Z1177:Ndufs1 UTSW 1 63,208,410 (GRCm39) frame shift probably null
Z1177:Ndufs1 UTSW 1 63,202,967 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGACACACAGATTATCCATAAAAGC -3'
(R):5'- CTATTGCTGTTCTGAGTTCCGCTAG -3'

Sequencing Primer
(F):5'- CCTGGTTTTATCAGAGATCCA -3'
(R):5'- GTGGATCTGGTAGTAATCCCAACAC -3'
Posted On 2014-10-30