Incidental Mutation 'IGL02532:Ndufs1'
ID297360
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufs1
Ensembl Gene ENSMUSG00000025968
Gene NameNADH dehydrogenase (ubiquinone) Fe-S protein 1
Synonyms9930026A05Rik, 5830412M15Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02532
Quality Score
Status
Chromosome1
Chromosomal Location63143596-63176833 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 63170139 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 22 (R22C)
Ref Sequence ENSEMBL: ENSMUSP00000140467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027111] [ENSMUST00000168099] [ENSMUST00000185412] [ENSMUST00000185732] [ENSMUST00000185847] [ENSMUST00000188370] [ENSMUST00000189664]
Predicted Effect probably benign
Transcript: ENSMUST00000027111
AA Change: R22C

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000027111
Gene: ENSMUSG00000025968
AA Change: R22C

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: ENSMUST00000140612
Predicted Effect probably benign
Transcript: ENSMUST00000168099
AA Change: R22C

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000126621
Gene: ENSMUSG00000025968
AA Change: R22C

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 damaging
Transcript: ENSMUST00000185412
AA Change: R22C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140467
Gene: ENSMUSG00000025968
AA Change: R22C

DomainStartEndE-ValueType
Pfam:Fer2_4 29 79 5.3e-10 PFAM
Pfam:Fer2 34 79 1.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185732
AA Change: R22C

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000140307
Gene: ENSMUSG00000025968
AA Change: R22C

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: ENSMUST00000188370
AA Change: R22C

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000139664
Gene: ENSMUSG00000025968
AA Change: R22C

DomainStartEndE-ValueType
Pfam:Fer2_4 29 96 1.1e-13 PFAM
Pfam:Fer2 34 127 1.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189664
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik A C 6: 96,164,790 S424R probably damaging Het
2200002D01Rik T C 7: 29,248,220 K15E possibly damaging Het
Abca2 A G 2: 25,435,136 T381A probably benign Het
Adcy1 T A 11: 7,144,737 N554K probably benign Het
Adcy5 A G 16: 35,272,083 I605V possibly damaging Het
Arhgap11a G T 2: 113,833,676 S754* probably null Het
Arhgef28 T A 13: 98,029,883 D319V probably damaging Het
Brca2 A G 5: 150,550,862 D2410G probably damaging Het
Carmil2 T A 8: 105,692,431 probably null Het
Catip A G 1: 74,364,616 N189S probably damaging Het
Cd177 T C 7: 24,745,249 K636E probably benign Het
Cep290 A G 10: 100,545,065 T145A probably benign Het
Cthrc1 T C 15: 39,077,165 probably benign Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fas C A 19: 34,316,599 T118N probably damaging Het
Fgd3 G A 13: 49,285,761 A253V probably damaging Het
Fig4 A G 10: 41,285,281 probably benign Het
Fubp3 T C 2: 31,600,559 probably benign Het
Gria2 T A 3: 80,706,999 E578V probably damaging Het
Gtpbp1 T A 15: 79,720,077 V662E probably benign Het
Hbb-bt T C 7: 103,813,874 probably benign Het
Ighv6-5 T A 12: 114,416,804 D50V probably benign Het
Inpp5k T C 11: 75,633,184 probably benign Het
Kalrn T C 16: 34,360,846 N141D probably damaging Het
Kbtbd8 A G 6: 95,126,536 T389A probably benign Het
Klhl6 C A 16: 19,957,082 R242L possibly damaging Het
Kmt2b T C 7: 30,586,889 probably benign Het
Krt13 A T 11: 100,119,369 L262Q probably damaging Het
Lingo2 T C 4: 35,709,171 K270E possibly damaging Het
Mroh7 A G 4: 106,720,591 S297P probably benign Het
Nlrp5 T A 7: 23,409,973 S115T possibly damaging Het
Pfpl A T 19: 12,428,845 R153S probably damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Psme1 T A 14: 55,581,138 Y223* probably null Het
R3hdm1 T C 1: 128,197,099 probably null Het
Rnf103 A G 6: 71,509,825 D480G probably benign Het
Rnf103 T G 6: 71,509,652 S422R probably damaging Het
Rps6ka2 T C 17: 7,255,966 V213A probably damaging Het
Sort1 G T 3: 108,325,720 K203N probably benign Het
Sugp1 A T 8: 70,059,819 K239N possibly damaging Het
Sult2a8 C T 7: 14,416,258 R176K probably benign Het
Usp34 T A 11: 23,370,291 N888K probably damaging Het
Vmn1r4 A C 6: 56,957,150 H213P possibly damaging Het
Wdr45b G T 11: 121,328,813 T303K probably benign Het
Other mutations in Ndufs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:Ndufs1 APN 1 63164817 missense probably damaging 0.99
IGL01655:Ndufs1 APN 1 63151557 missense probably damaging 1.00
IGL02606:Ndufs1 APN 1 63159852 missense probably damaging 1.00
IGL02866:Ndufs1 APN 1 63147141 missense probably benign 0.00
IGL03036:Ndufs1 APN 1 63163696 nonsense probably null
IGL03209:Ndufs1 APN 1 63164737 missense probably damaging 1.00
PIT4142001:Ndufs1 UTSW 1 63159748 unclassified probably benign
R0165:Ndufs1 UTSW 1 63159748 critical splice donor site probably null
R0505:Ndufs1 UTSW 1 63143926 splice site probably benign
R1861:Ndufs1 UTSW 1 63147417 missense probably benign 0.17
R2294:Ndufs1 UTSW 1 63160996 missense probably damaging 1.00
R2872:Ndufs1 UTSW 1 63164723 splice site probably benign
R2873:Ndufs1 UTSW 1 63164723 splice site probably benign
R4092:Ndufs1 UTSW 1 63157246 missense possibly damaging 0.55
R4277:Ndufs1 UTSW 1 63170097 missense possibly damaging 0.84
R4782:Ndufs1 UTSW 1 63160949 missense probably damaging 1.00
R4799:Ndufs1 UTSW 1 63160949 missense probably damaging 1.00
R4993:Ndufs1 UTSW 1 63163776 missense probably benign
R5051:Ndufs1 UTSW 1 63164947 critical splice donor site probably null
R5412:Ndufs1 UTSW 1 63166349 missense possibly damaging 0.79
R5632:Ndufs1 UTSW 1 63150059 missense probably benign 0.00
R5705:Ndufs1 UTSW 1 63147158 missense probably benign 0.05
R5854:Ndufs1 UTSW 1 63147389 missense probably benign 0.05
R5919:Ndufs1 UTSW 1 63143832 makesense probably null
R6598:Ndufs1 UTSW 1 63164950 missense probably null 1.00
R7716:Ndufs1 UTSW 1 63152857 missense possibly damaging 0.95
R7744:Ndufs1 UTSW 1 63160940 missense possibly damaging 0.89
R7785:Ndufs1 UTSW 1 63147399 missense probably damaging 0.98
Posted On2015-04-16