Incidental Mutation 'R9007:Ndufs1'
ID 716033
Institutional Source Beutler Lab
Gene Symbol Ndufs1
Ensembl Gene ENSMUSG00000025968
Gene Name NADH:ubiquinone oxidoreductase core subunit S1
Synonyms 9930026A05Rik, 5830412M15Rik
MMRRC Submission 068837-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9007 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 63182751-63215981 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 63198878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027111] [ENSMUST00000168099] [ENSMUST00000185847] [ENSMUST00000188370]
AlphaFold Q91VD9
Predicted Effect probably benign
Transcript: ENSMUST00000027111
SMART Domains Protein: ENSMUSP00000027111
Gene: ENSMUSG00000025968

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 probably benign
Transcript: ENSMUST00000168099
SMART Domains Protein: ENSMUSP00000126621
Gene: ENSMUSG00000025968

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: ENSMUST00000185847
SMART Domains Protein: ENSMUSP00000141190
Gene: ENSMUSG00000025968

DomainStartEndE-ValueType
Pfam:Molybdopterin 1 60 5.7e-5 PFAM
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (60/60)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,226,935 (GRCm39) C497S probably benign Het
4930453N24Rik A T 16: 64,589,377 (GRCm39) Y92* probably null Het
Adam3 A G 8: 25,205,127 (GRCm39) V117A probably benign Het
Amer2 G C 14: 60,617,376 (GRCm39) D524H probably damaging Het
Armh4 T A 14: 50,011,695 (GRCm39) D4V probably damaging Het
Atp6v0a4 T C 6: 38,029,988 (GRCm39) K692R probably benign Het
Atp8b1 A G 18: 64,684,931 (GRCm39) V730A probably benign Het
Bdh2 T C 3: 134,991,309 (GRCm39) probably benign Het
Ccnd3 T A 17: 47,905,332 (GRCm39) probably null Het
Chrm4 T C 2: 91,758,075 (GRCm39) V161A possibly damaging Het
Csmd3 T C 15: 47,751,892 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,087,930 (GRCm39) S349P probably benign Het
Ddx55 A G 5: 124,697,370 (GRCm39) N244S probably damaging Het
Dock1 A G 7: 134,500,825 (GRCm39) probably benign Het
Dppa3 T C 6: 122,605,724 (GRCm39) S93P probably damaging Het
Echdc1 T C 10: 29,220,426 (GRCm39) I217T probably damaging Het
Fpr-rs4 T A 17: 18,242,416 (GRCm39) L141Q probably damaging Het
Galnt15 T C 14: 31,771,935 (GRCm39) F451L probably damaging Het
Galnt9 G A 5: 110,692,665 (GRCm39) R33H probably benign Het
Iah1 G A 12: 21,367,402 (GRCm39) G36D probably damaging Het
Jakmip1 A G 5: 37,332,857 (GRCm39) D1179G probably benign Het
Kcnh1 A G 1: 192,188,055 (GRCm39) T866A probably benign Het
Kcnq4 T A 4: 120,555,150 (GRCm39) I678F probably benign Het
Lars2 A T 9: 123,260,980 (GRCm39) R384* probably null Het
Lman2 T C 13: 55,500,773 (GRCm39) D142G probably damaging Het
Lrp1b T C 2: 40,587,564 (GRCm39) D3897G Het
Lrrn1 T A 6: 107,544,820 (GRCm39) I206N probably damaging Het
Mapkbp1 T A 2: 119,850,143 (GRCm39) L802H probably damaging Het
Meaf6 T C 4: 125,001,450 (GRCm39) probably benign Het
Mier2 G A 10: 79,384,274 (GRCm39) R166W probably damaging Het
Mis18bp1 G A 12: 65,180,616 (GRCm39) S955L probably benign Het
Mocs1 T A 17: 49,756,819 (GRCm39) M267K probably damaging Het
Mroh3 T A 1: 136,128,110 (GRCm39) Y263F probably damaging Het
Nuak1 T C 10: 84,210,492 (GRCm39) Y532C probably damaging Het
Or51b6 A G 7: 103,556,165 (GRCm39) H170R Het
Or6c205 A T 10: 129,086,669 (GRCm39) T89S possibly damaging Het
Ost4 A G 5: 31,064,866 (GRCm39) V5A possibly damaging Het
P2rx1 T A 11: 72,900,059 (GRCm39) C159S probably damaging Het
Paqr8 T C 1: 21,005,614 (GRCm39) L256P possibly damaging Het
Pgls T A 8: 72,048,689 (GRCm39) probably benign Het
Pkd2l1 T C 19: 44,140,864 (GRCm39) E566G possibly damaging Het
Plau A T 14: 20,889,613 (GRCm39) H226L probably damaging Het
Rps18-ps5 A G 13: 28,441,872 (GRCm39) N85S probably damaging Het
Rraga T C 4: 86,494,675 (GRCm39) S174P probably damaging Het
Sacs T A 14: 61,445,185 (GRCm39) D2410E probably benign Het
Sgms1 A T 19: 32,137,227 (GRCm39) M113K probably benign Het
Skint6 C A 4: 113,095,347 (GRCm39) G104V probably damaging Het
Spata31f1e C T 4: 42,792,546 (GRCm39) G529S probably benign Het
Sqor T A 2: 122,649,876 (GRCm39) Y373* probably null Het
Stra6l T A 4: 45,864,910 (GRCm39) S79T possibly damaging Het
Svep1 T C 4: 58,091,915 (GRCm39) I1573M possibly damaging Het
Syne2 A G 12: 76,146,224 (GRCm39) D1674G possibly damaging Het
Tex26 C A 5: 149,376,884 (GRCm39) T91N probably damaging Het
Tigd2 T G 6: 59,187,887 (GRCm39) S251R probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tnks1bp1 T A 2: 84,901,048 (GRCm39) L1585Q probably damaging Het
Trmt10c A G 16: 55,855,542 (GRCm39) V31A probably benign Het
Ttc41 T C 10: 86,569,625 (GRCm39) S668P probably damaging Het
Uggt2 A T 14: 119,326,724 (GRCm39) D162E probably damaging Het
Vmn1r125 G C 7: 21,006,503 (GRCm39) V134L probably benign Het
Vmn1r225 T A 17: 20,723,449 (GRCm39) F297I probably damaging Het
Vps13c A G 9: 67,845,006 (GRCm39) D2030G probably benign 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
R2294:Ndufs1 UTSW 1 63,200,155 (GRCm39) missense probably damaging 1.00
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
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'- AGCATATCTGAGATATGGCTCTC -3'
(R):5'- GCCACCATCCCTGTGTTAGG -3'

Sequencing Primer
(F):5'- TTAATCTCAGCACTCAGTGGCAGAG -3'
(R):5'- GACTTACTGAACCAATGGTC -3'
Posted On 2022-07-01