Incidental Mutation 'BB017:Ndufs7'
ID 642963
Institutional Source Beutler Lab
Gene Symbol Ndufs7
Ensembl Gene ENSMUSG00000020153
Gene Name NADH:ubiquinone oxidoreductase core subunit S7
Synonyms 1010001M04Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # BB017
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 80084955-80092628 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 80089619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020359] [ENSMUST00000020361] [ENSMUST00000105363] [ENSMUST00000105364]
AlphaFold Q9DC70
Predicted Effect probably benign
Transcript: ENSMUST00000020359
SMART Domains Protein: ENSMUSP00000020359
Gene: ENSMUSG00000020150

DomainStartEndE-ValueType
PDB:1XCL|A 2 252 1e-151 PDB
SCOP:d1khha_ 44 252 3e-32 SMART
Predicted Effect probably null
Transcript: ENSMUST00000020361
SMART Domains Protein: ENSMUSP00000020361
Gene: ENSMUSG00000020153

DomainStartEndE-ValueType
low complexity region 36 46 N/A INTRINSIC
low complexity region 49 60 N/A INTRINSIC
Pfam:Oxidored_q6 98 208 1.9e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105363
SMART Domains Protein: ENSMUSP00000101002
Gene: ENSMUSG00000020150

DomainStartEndE-ValueType
PDB:1XCL|A 2 236 1e-155 PDB
SCOP:d1khha_ 44 236 2e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105364
SMART Domains Protein: ENSMUSP00000101003
Gene: ENSMUSG00000020153

DomainStartEndE-ValueType
low complexity region 36 46 N/A INTRINSIC
low complexity region 49 60 N/A INTRINSIC
Pfam:Oxidored_q6 98 208 1.9e-25 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 C T 8: 41,250,107 (GRCm39) T739I probably benign Het
Adam23 G T 1: 63,624,586 (GRCm39) V805F possibly damaging Het
Adamts17 A T 7: 66,499,547 (GRCm39) R31S probably damaging Het
Ano4 T A 10: 89,163,138 (GRCm39) Y27F possibly damaging Het
Bbs2 A G 8: 94,796,625 (GRCm39) V675A probably damaging Het
Brca2 A G 5: 150,481,975 (GRCm39) E2839G probably damaging Het
Capn5 C T 7: 97,773,085 (GRCm39) V640I probably benign Het
Casp4 C T 9: 5,321,318 (GRCm39) T23M probably damaging Het
Cerk C T 15: 86,028,920 (GRCm39) E379K possibly damaging Het
Comp G A 8: 70,826,503 (GRCm39) G26D probably damaging Het
Cpxm1 G A 2: 130,236,982 (GRCm39) A220V possibly damaging Het
Cyp2c69 G T 19: 39,831,434 (GRCm39) P460T possibly damaging Het
Ddx23 T C 15: 98,546,504 (GRCm39) D555G probably damaging Het
E2f6 T A 12: 16,869,058 (GRCm39) I127K probably damaging Het
Efr3a T A 15: 65,733,589 (GRCm39) D716E probably benign Het
Esp16 T G 17: 39,850,868 (GRCm39) S82R possibly damaging Het
Fasn A C 11: 120,700,061 (GRCm39) S2199A probably benign Het
Fscb A G 12: 64,519,337 (GRCm39) S710P unknown Het
Gas7 A G 11: 67,556,217 (GRCm39) I185M probably damaging Het
Glg1 A T 8: 111,887,367 (GRCm39) L1047I possibly damaging Het
Golga5 A G 12: 102,450,681 (GRCm39) N445D probably benign Het
Grin2c A T 11: 115,147,063 (GRCm39) H377Q probably benign Het
Hmgcs1 T C 13: 120,161,499 (GRCm39) I97T possibly damaging Het
Ifi211 T C 1: 173,733,769 (GRCm39) T131A possibly damaging Het
Ifngr1 A G 10: 19,484,931 (GRCm39) K310R probably damaging Het
Il18rap T C 1: 40,587,803 (GRCm39) V467A probably damaging Het
Itgad C A 7: 127,782,280 (GRCm39) Q239K probably benign Het
Jrkl T C 9: 13,245,506 (GRCm39) I52V possibly damaging Het
Kdm6b A T 11: 69,290,778 (GRCm39) D1630E unknown Het
Krt75 C A 15: 101,473,318 (GRCm39) *552L probably null Het
Mbd2 A G 18: 70,701,948 (GRCm39) D154G probably damaging Het
Mutyh A T 4: 116,674,153 (GRCm39) N235Y probably benign Het
Myo5b A G 18: 74,864,825 (GRCm39) T1348A probably benign Het
Nup205 T G 6: 35,171,511 (GRCm39) M458R probably damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or1e32 A C 11: 73,705,926 (GRCm39) probably benign Het
Or1j4 G T 2: 36,740,285 (GRCm39) V76F probably damaging Het
Or2at1 A T 7: 99,416,803 (GRCm39) T145S probably benign Het
Or5b119 G A 19: 13,457,019 (GRCm39) P181L probably damaging Het
Or6b2 T A 1: 92,407,570 (GRCm39) M258L probably benign Het
Or8b101 A G 9: 38,020,264 (GRCm39) N89S possibly damaging Het
Or8k25 T A 2: 86,243,560 (GRCm39) T279S probably damaging Het
Plcl2 T G 17: 50,913,831 (GRCm39) I280S probably benign Het
Ppargc1a A T 5: 51,630,264 (GRCm39) Y618N unknown Het
Rab43 A T 6: 87,788,348 (GRCm39) I60N probably damaging Het
Rnf126 A T 10: 79,596,726 (GRCm39) C231S probably damaging Het
Rnf220 T A 4: 117,164,787 (GRCm39) E238D probably damaging Het
Scn9a A T 2: 66,335,193 (GRCm39) D1265E probably damaging Het
Sntb2 T A 8: 107,728,269 (GRCm39) S406T probably damaging Het
Sos1 T C 17: 80,714,267 (GRCm39) I1068V probably benign Het
Spart A G 3: 55,035,697 (GRCm39) K519E probably damaging Het
Tlx3 A T 11: 33,153,058 (GRCm39) F134L probably damaging Het
Trbj1-2 A T 6: 41,510,964 (GRCm39) T10S Het
Txk A C 5: 72,892,536 (GRCm39) L33R probably damaging Het
Ulk2 A G 11: 61,682,258 (GRCm39) probably null Het
Usp20 T C 2: 30,900,556 (GRCm39) S357P probably benign Het
Wac T A 18: 7,921,560 (GRCm39) N565K possibly damaging Het
Zfp1007 A T 5: 109,823,622 (GRCm39) C609* probably null Het
Zfp709 G T 8: 72,644,684 (GRCm39) K704N probably damaging Het
Zfp788 C T 7: 41,299,049 (GRCm39) Q562* probably null Het
Other mutations in Ndufs7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00902:Ndufs7 APN 10 80,091,839 (GRCm39) nonsense probably null
IGL00940:Ndufs7 APN 10 80,090,955 (GRCm39) missense probably damaging 0.98
BB007:Ndufs7 UTSW 10 80,089,619 (GRCm39) critical splice donor site probably null
R0539:Ndufs7 UTSW 10 80,090,665 (GRCm39) splice site probably benign
R1727:Ndufs7 UTSW 10 80,091,853 (GRCm39) splice site probably benign
R3714:Ndufs7 UTSW 10 80,088,255 (GRCm39) missense probably benign 0.00
R4600:Ndufs7 UTSW 10 80,092,501 (GRCm39) nonsense probably null
R4603:Ndufs7 UTSW 10 80,092,501 (GRCm39) nonsense probably null
R5437:Ndufs7 UTSW 10 80,090,758 (GRCm39) missense possibly damaging 0.63
R7604:Ndufs7 UTSW 10 80,089,531 (GRCm39) missense probably benign 0.00
R7732:Ndufs7 UTSW 10 80,089,618 (GRCm39) critical splice donor site probably null
R7930:Ndufs7 UTSW 10 80,089,619 (GRCm39) critical splice donor site probably null
R8898:Ndufs7 UTSW 10 80,089,619 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CCTCAGGGATGATGTGGTTC -3'
(R):5'- CAGGAAGTTCCAAGGCAAAC -3'

Sequencing Primer
(F):5'- GTTCTGTCCTGGGACCCTG -3'
(R):5'- CAGATCCTGGAACCCATGTGTTG -3'
Posted On 2020-08-01