Incidental Mutation 'IGL03172:Ndufa2'
ID 411883
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufa2
Ensembl Gene ENSMUSG00000014294
Gene Name NADH:ubiquinone oxidoreductase subunit A2
Synonyms B8, C1-B8
Accession Numbers
Essential gene? Probably essential (E-score: 0.831) question?
Stock # IGL03172
Quality Score
Status
Chromosome 18
Chromosomal Location 36875385-36877610 bp(-) (GRCm39)
Type of Mutation splice site (1834 bp from exon)
DNA Base Change (assembly) A to G at 36877278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000007046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007042] [ENSMUST00000007046] [ENSMUST00000014438]
AlphaFold Q9CQ75
Predicted Effect probably benign
Transcript: ENSMUST00000007042
SMART Domains Protein: ENSMUSP00000007042
Gene: ENSMUSG00000024474

DomainStartEndE-ValueType
low complexity region 42 56 N/A INTRINSIC
Pfam:RED_N 76 302 1.6e-105 PFAM
low complexity region 334 380 N/A INTRINSIC
Pfam:RED_C 445 554 1.1e-52 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000007046
SMART Domains Protein: ENSMUSP00000007046
Gene: ENSMUSG00000006850

DomainStartEndE-ValueType
low complexity region 17 36 N/A INTRINSIC
SCOP:d1jdha_ 72 485 2e-10 SMART
Blast:ARM 96 178 3e-22 BLAST
Blast:ARM 180 220 1e-17 BLAST
Blast:ARM 225 268 7e-19 BLAST
Blast:ARM 269 320 4e-8 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000014438
AA Change: I55T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014438
Gene: ENSMUSG00000014294
AA Change: I55T

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
L51_S25_CI-B8 25 98 1.74e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224284
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a subunit of the NADH-ubiquinone oxidoreductase (complex I) enzyme, which is a large, multimeric protein. It is the first enzyme complex in the mitochondrial electron transport chain and catalyzes the transfer of electrons from NADH to the electron acceptor ubiquinone. The proton gradient created by electron transfer drives the conversion of ADP to ATP. The human ortholog of this gene has been characterized, and its structure and redox potential is reported to be similar to that of thioredoxins. It may be involved in regulating complex I activity or assembly via assistance in redox processes. In humans, mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. A pseudogene of this gene is located on chromosome 5. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,839,003 (GRCm39) H528R probably damaging Het
A530053G22Rik A T 6: 60,379,047 (GRCm39) noncoding transcript Het
Aagab A G 9: 63,542,676 (GRCm39) probably benign Het
Aknad1 A T 3: 108,688,519 (GRCm39) I616F possibly damaging Het
Ap2a1 A C 7: 44,553,479 (GRCm39) D629E probably benign Het
Apc2 C A 10: 80,149,220 (GRCm39) Q1425K probably damaging Het
Asf1b A C 8: 84,694,542 (GRCm39) H102P probably benign Het
Celf6 C T 9: 59,489,565 (GRCm39) A90V probably damaging Het
Chrna2 A T 14: 66,379,688 (GRCm39) Q9L probably benign Het
Csnk1g3 A G 18: 54,086,356 (GRCm39) I420M possibly damaging Het
Eml3 T C 19: 8,916,543 (GRCm39) probably benign Het
Epn3 T C 11: 94,382,456 (GRCm39) N508S possibly damaging Het
Fam120a T C 13: 49,063,812 (GRCm39) Y608C probably damaging Het
Fbn1 A C 2: 125,162,888 (GRCm39) C2133G possibly damaging Het
Fhl5 A G 4: 25,211,309 (GRCm39) F128L probably damaging Het
Fn1 T C 1: 71,680,421 (GRCm39) N428S probably damaging Het
Fxr2 T C 11: 69,540,665 (GRCm39) probably null Het
Gabrp T C 11: 33,504,388 (GRCm39) Y309C probably damaging Het
Golga2 A G 2: 32,182,168 (GRCm39) I50V probably benign Het
Ifi203 C T 1: 173,764,158 (GRCm39) G105R possibly damaging Het
Itgav A T 2: 83,596,190 (GRCm39) Q201L possibly damaging Het
Jade2 T C 11: 51,716,198 (GRCm39) T336A probably damaging Het
Kdm4b A G 17: 56,708,649 (GRCm39) D996G probably damaging Het
Me2 A G 18: 73,903,797 (GRCm39) I557T probably benign Het
Memo1 A C 17: 74,551,996 (GRCm39) L100R probably damaging Het
Mrps2 A G 2: 28,359,818 (GRCm39) N225S probably damaging Het
Or2g7 G T 17: 38,378,275 (GRCm39) C71F probably damaging Het
Or7g19 G A 9: 18,856,757 (GRCm39) S271N probably benign Het
Pak5 G T 2: 135,940,310 (GRCm39) Y501* probably null Het
Pot1b A T 17: 56,002,206 (GRCm39) F123I possibly damaging Het
Rev3l T C 10: 39,700,786 (GRCm39) V1761A probably benign Het
Samd3 T A 10: 26,106,064 (GRCm39) V14E probably damaging Het
Slc4a8 G A 15: 100,697,598 (GRCm39) A605T probably benign Het
Smgc A T 15: 91,744,642 (GRCm39) D333V probably damaging Het
Spata4 A G 8: 55,055,440 (GRCm39) I147V probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Vmn2r73 G A 7: 85,507,495 (GRCm39) H606Y probably benign Het
Vsig8 A G 1: 172,387,916 (GRCm39) N2S probably damaging Het
Wdr17 A C 8: 55,114,515 (GRCm39) I667R probably damaging Het
Yif1b A G 7: 28,937,873 (GRCm39) probably null Het
Zbtb5 A T 4: 44,994,003 (GRCm39) H460Q possibly damaging Het
Zdhhc21 G A 4: 82,724,564 (GRCm39) probably benign Het
Zfp944 A T 17: 22,559,018 (GRCm39) H76Q probably damaging Het
Zkscan1 A G 5: 138,092,264 (GRCm39) Q146R probably benign Het
Other mutations in Ndufa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Ndufa2 APN 18 36,877,228 (GRCm39) splice site probably benign
R1888:Ndufa2 UTSW 18 36,877,573 (GRCm39) unclassified probably benign
R1888:Ndufa2 UTSW 18 36,877,573 (GRCm39) unclassified probably benign
R5655:Ndufa2 UTSW 18 36,877,519 (GRCm39) missense probably benign 0.15
Posted On 2016-08-02