Incidental Mutation 'R6631:Ndufs3'
ID 525102
Institutional Source Beutler Lab
Gene Symbol Ndufs3
Ensembl Gene ENSMUSG00000005510
Gene Name NADH:ubiquinone oxidoreductase core subunit S3
Synonyms 0610010M09Rik
MMRRC Submission 044753-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6631 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 90724971-90735065 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 90732744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 114 (T114M)
Ref Sequence ENSEMBL: ENSMUSP00000005647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005647] [ENSMUST00000090682] [ENSMUST00000111464]
AlphaFold Q9DCT2
Predicted Effect probably damaging
Transcript: ENSMUST00000005647
AA Change: T114M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005647
Gene: ENSMUSG00000005510
AA Change: T114M

DomainStartEndE-ValueType
Pfam:Complex1_30kDa 85 207 1.9e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090682
SMART Domains Protein: ENSMUSP00000088179
Gene: ENSMUSG00000005505

DomainStartEndE-ValueType
BTB 45 142 1.43e-25 SMART
BACK 147 239 6.08e-10 SMART
SCOP:d1k3ia3 279 467 8e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111464
SMART Domains Protein: ENSMUSP00000107089
Gene: ENSMUSG00000005505

DomainStartEndE-ValueType
BTB 61 158 1.43e-25 SMART
BACK 163 255 6.08e-10 SMART
SCOP:d1k3ia3 295 483 9e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152059
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 96% (50/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik A T 9: 15,203,326 (GRCm39) N159K probably damaging Het
Arhgef10l T C 4: 140,245,058 (GRCm39) probably benign Het
Atosa A G 9: 74,861,107 (GRCm39) D4G possibly damaging Het
Avil A G 10: 126,843,618 (GRCm39) S153G possibly damaging Het
C2cd3 G A 7: 100,067,747 (GRCm39) D877N probably damaging Het
Clca3a2 G A 3: 144,519,405 (GRCm39) A257V probably benign Het
Cramp1 T A 17: 25,202,931 (GRCm39) H366L probably benign Het
Cyp2c37 C T 19: 39,998,287 (GRCm39) S393L probably damaging Het
Defb8 T A 8: 19,495,950 (GRCm39) I37L probably benign Het
Dennd4b C A 3: 90,185,039 (GRCm39) probably null Het
Eps8l2 G A 7: 140,936,115 (GRCm39) R223H probably damaging Het
Erbin A G 13: 103,961,400 (GRCm39) L1302P probably benign Het
Exoc3l A G 8: 106,021,993 (GRCm39) W37R probably damaging Het
Fap T C 2: 62,333,725 (GRCm39) N668S probably damaging Het
Gas7 A G 11: 67,565,107 (GRCm39) N250S probably damaging Het
H2bc12 T A 13: 22,220,391 (GRCm39) V112E probably damaging Het
Hivep1 C A 13: 42,309,956 (GRCm39) P732Q probably damaging Het
Irx4 G T 13: 73,416,545 (GRCm39) A314S probably benign Het
Itgb8 A T 12: 119,144,712 (GRCm39) L332* probably null Het
Kctd19 A G 8: 106,111,960 (GRCm39) probably null Het
Kif14 G A 1: 136,443,697 (GRCm39) S1290N probably benign Het
Klk1b3 C T 7: 43,850,888 (GRCm39) T140I probably benign Het
Lama1 A G 17: 68,081,477 (GRCm39) N1305D probably benign Het
Lrp1 A T 10: 127,410,201 (GRCm39) V1515E probably damaging Het
Man2b1 A G 8: 85,813,440 (GRCm39) probably null Het
Mocos A G 18: 24,832,988 (GRCm39) T818A probably benign Het
Mpc2 G T 1: 165,307,081 (GRCm39) W94L probably benign Het
Mrc1 G A 2: 14,243,296 (GRCm39) V141I probably benign Het
Nalcn T C 14: 123,697,663 (GRCm39) T538A probably benign Het
Noct T C 3: 51,157,621 (GRCm39) C320R probably damaging Het
Or5b117 T A 19: 13,431,185 (GRCm39) Q232L probably benign Het
Pcdha11 G T 18: 37,138,844 (GRCm39) A158S probably damaging Het
Pcdhga8 T A 18: 37,860,109 (GRCm39) D388E probably benign Het
Peg3 T C 7: 6,712,069 (GRCm39) E1051G possibly damaging Het
Phlda2 T A 7: 143,055,918 (GRCm39) I104F probably damaging Het
Polr2a A G 11: 69,626,339 (GRCm39) S1604P possibly damaging Het
Pomt2 C T 12: 87,186,417 (GRCm39) probably null Het
Ppp6r2 G A 15: 89,137,458 (GRCm39) probably null Het
Prdm2 T G 4: 142,861,454 (GRCm39) Q612P probably benign Het
Prr5 C A 15: 84,586,978 (GRCm39) R243S probably damaging Het
Ptgdr2 T C 19: 10,918,233 (GRCm39) I250T probably benign Het
Rad54l2 A T 9: 106,590,739 (GRCm39) C462* probably null Het
Sec16a T A 2: 26,329,969 (GRCm39) E682V probably damaging Het
Serpina3i A G 12: 104,232,725 (GRCm39) D210G probably damaging Het
Slain2 T A 5: 73,114,748 (GRCm39) D326E probably benign Het
Sned1 A G 1: 93,209,374 (GRCm39) E829G probably damaging Het
Steap4 G A 5: 8,026,995 (GRCm39) W319* probably null Het
Taar8c A G 10: 23,977,701 (GRCm39) V37A probably benign Het
Tdrd12 T A 7: 35,184,654 (GRCm39) Y753F probably damaging Het
Tnxb A G 17: 34,937,222 (GRCm39) S3770G probably damaging Het
Trrap A G 5: 144,708,460 (GRCm39) N48S possibly damaging Het
Zfp558 C A 9: 18,368,219 (GRCm39) G190* probably null Het
Other mutations in Ndufs3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00931:Ndufs3 APN 2 90,732,846 (GRCm39) splice site probably null
R0416:Ndufs3 UTSW 2 90,728,732 (GRCm39) missense probably damaging 0.99
R1618:Ndufs3 UTSW 2 90,729,016 (GRCm39) missense probably benign 0.00
R1796:Ndufs3 UTSW 2 90,729,050 (GRCm39) nonsense probably null
R4088:Ndufs3 UTSW 2 90,728,689 (GRCm39) intron probably benign
R5022:Ndufs3 UTSW 2 90,729,004 (GRCm39) missense probably benign 0.44
R5023:Ndufs3 UTSW 2 90,729,004 (GRCm39) missense probably benign 0.44
R5057:Ndufs3 UTSW 2 90,729,004 (GRCm39) missense probably benign 0.44
R5439:Ndufs3 UTSW 2 90,732,690 (GRCm39) splice site probably null
R8082:Ndufs3 UTSW 2 90,725,208 (GRCm39) missense probably damaging 0.98
R8786:Ndufs3 UTSW 2 90,732,778 (GRCm39) missense probably benign 0.07
R8969:Ndufs3 UTSW 2 90,732,773 (GRCm39) missense probably damaging 0.99
R9035:Ndufs3 UTSW 2 90,725,217 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTTTAGTCCTAAAATGCCACC -3'
(R):5'- AGTGTGCTACGCCCTTAGTAG -3'

Sequencing Primer
(F):5'- AGATGACCTTGAACTTGTGGCCC -3'
(R):5'- CTACGCCCTTAGTAGCTATGTC -3'
Posted On 2018-06-22