Incidental Mutation 'R5412:Ndufs1'
ID 427507
Institutional Source Beutler Lab
Gene Symbol Ndufs1
Ensembl Gene ENSMUSG00000025968
Gene Name NADH:ubiquinone oxidoreductase core subunit S1
Synonyms 9930026A05Rik, 5830412M15Rik
MMRRC Submission 042981-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5412 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 63182751-63215981 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63205508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 94 (M94V)
Ref Sequence ENSEMBL: ENSMUSP00000126621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027111] [ENSMUST00000168099] [ENSMUST00000185412] [ENSMUST00000185732] [ENSMUST00000185847] [ENSMUST00000189664] [ENSMUST00000188370]
AlphaFold Q91VD9
Predicted Effect possibly damaging
Transcript: ENSMUST00000027111
AA Change: M94V

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027111
Gene: ENSMUSG00000025968
AA Change: M94V

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: ENSMUST00000140612
Predicted Effect possibly damaging
Transcript: ENSMUST00000168099
AA Change: M94V

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126621
Gene: ENSMUSG00000025968
AA Change: M94V

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: ENSMUST00000185412
SMART Domains Protein: ENSMUSP00000140467
Gene: ENSMUSG00000025968

DomainStartEndE-ValueType
Pfam:Fer2_4 29 79 5.3e-10 PFAM
Pfam:Fer2 34 79 1.4e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000185732
AA Change: M94V

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140307
Gene: ENSMUSG00000025968
AA Change: M94V

DomainStartEndE-ValueType
Pfam:Fer2_4 29 107 4.4e-18 PFAM
Pfam:Fer2 34 97 6.2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185827
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: ENSMUST00000189664
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: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T A 9: 55,886,036 (GRCm39) N36Y probably damaging Het
Ankfn1 T A 11: 89,396,007 (GRCm39) E246D probably benign Het
Arid1a T C 4: 133,446,913 (GRCm39) probably benign Het
Bbs7 A T 3: 36,653,522 (GRCm39) D300E probably benign Het
C3 T C 17: 57,527,187 (GRCm39) D754G probably benign Het
Ccpg1 A T 9: 72,917,588 (GRCm39) Q240L probably damaging Het
Cdk13 G A 13: 17,941,115 (GRCm39) P650S probably damaging Het
Celsr2 G T 3: 108,307,311 (GRCm39) S1933Y probably damaging Het
Cep135 T A 5: 76,764,709 (GRCm39) H562Q probably benign Het
Cyp26a1 G T 19: 37,689,630 (GRCm39) C442F probably damaging Het
Dnah7a T C 1: 53,674,503 (GRCm39) S425G probably benign Het
Espn C T 4: 152,212,582 (GRCm39) V752M probably damaging Het
Glyr1 A G 16: 4,854,297 (GRCm39) S113P possibly damaging Het
Grk4 A T 5: 34,902,612 (GRCm39) Y388F probably benign Het
H2-T15 C T 17: 36,366,936 (GRCm39) C369Y probably benign Het
Heca C A 10: 17,778,044 (GRCm39) V518F probably damaging Het
Hmcn2 C T 2: 31,236,629 (GRCm39) P391S possibly damaging Het
Hnrnpl A G 7: 28,510,529 (GRCm39) probably benign Het
Hsd3b2 A G 3: 98,619,208 (GRCm39) S246P possibly damaging Het
Ifna11 C T 4: 88,738,380 (GRCm39) P62L probably damaging Het
Katnal2 A T 18: 77,090,131 (GRCm39) V292D probably damaging Het
Krt16 T A 11: 100,137,593 (GRCm39) I371F probably damaging Het
Ly6g2 A T 15: 75,089,669 (GRCm39) E59V probably damaging Het
Map10 A T 8: 126,397,724 (GRCm39) L372F probably damaging Het
Megf10 A T 18: 57,324,219 (GRCm39) M87L probably damaging Het
Ncoa6 T C 2: 155,249,701 (GRCm39) H1201R possibly damaging Het
Ndc80 C A 17: 71,821,226 (GRCm39) D241Y probably damaging Het
Nkx2-6 G T 14: 69,412,195 (GRCm39) R121L probably damaging Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Or6a2 A G 7: 106,600,842 (GRCm39) V75A probably damaging Het
Otop1 A G 5: 38,455,328 (GRCm39) I241V probably benign Het
Panx2 C A 15: 88,953,135 (GRCm39) P542H possibly damaging Het
Pcdha5 C A 18: 37,095,510 (GRCm39) P673Q probably benign Het
Pon1 A G 6: 5,185,314 (GRCm39) L62P probably damaging Het
Prdx6 A T 1: 161,071,860 (GRCm39) I102N probably damaging Het
Prkd3 T A 17: 79,262,140 (GRCm39) I725F possibly damaging Het
Selenon T C 4: 134,269,749 (GRCm39) N395S probably benign Het
Serpinb8 G A 1: 107,533,616 (GRCm39) E224K probably benign Het
Serpinb9b A G 13: 33,213,496 (GRCm39) M18V probably benign Het
Smc6 A G 12: 11,335,400 (GRCm39) E318G possibly damaging Het
Srrt A T 5: 137,294,549 (GRCm39) Y786N probably damaging Het
Stk36 G T 1: 74,644,615 (GRCm39) probably null Het
Stpg1 T A 4: 135,252,786 (GRCm39) L179Q possibly damaging Het
Stra8 G A 6: 34,907,885 (GRCm39) M1I probably null Het
Tiam1 G T 16: 89,681,753 (GRCm39) H408Q possibly damaging Het
Tm2d1 G A 4: 98,253,855 (GRCm39) T106I probably damaging Het
Tmem150b A C 7: 4,719,368 (GRCm39) I184S probably null Het
Vmn1r216 A G 13: 23,284,081 (GRCm39) I255V probably benign Het
Vps13b G A 15: 35,533,531 (GRCm39) A868T probably damaging Het
Wdr81 C T 11: 75,341,620 (GRCm39) D1216N probably null Het
Zfp26 T C 9: 20,349,535 (GRCm39) Y343C possibly damaging Het
Zfp276 A T 8: 123,982,520 (GRCm39) I95F probably damaging Het
Zfp330 T C 8: 83,490,865 (GRCm39) E315G probably benign Het
Zfp683 C A 4: 133,781,862 (GRCm39) P56Q probably damaging Het
Zpld1 T A 16: 55,052,646 (GRCm39) S323C possibly 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
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
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'- ACCTGAGTGACCTCCTCTAC -3'
(R):5'- TTTGAGGGGACAAACCACAG -3'

Sequencing Primer
(F):5'- CAGCCTGGTCTAAAAAGTGAGTTCC -3'
(R):5'- TGTGCCACTCTACCTATCTGAAAAC -3'
Posted On 2016-09-01