Incidental Mutation 'IGL00929:Ndufa2'
ID 29419
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 # IGL00929
Quality Score
Status
Chromosome 18
Chromosomal Location 36875385-36877610 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 36877228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000014438 (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 benign
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 benign
Transcript: ENSMUST00000014438
SMART Domains Protein: ENSMUSP00000014438
Gene: ENSMUSG00000014294

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp1 A T 12: 30,954,899 (GRCm39) H67Q probably damaging Het
Ankrd13b A G 11: 77,363,578 (GRCm39) S247P probably damaging Het
Aqp4 C T 18: 15,526,656 (GRCm39) G275E probably benign Het
Arhgef15 A T 11: 68,844,928 (GRCm39) L223Q probably damaging Het
Asb13 A G 13: 3,699,427 (GRCm39) Y209C probably damaging Het
Cdk18 A G 1: 132,046,257 (GRCm39) probably null Het
Cntnap5a G A 1: 115,988,004 (GRCm39) probably null Het
Cops6 A G 5: 138,159,648 (GRCm39) M1V probably null Het
Dab2ip A T 2: 35,598,889 (GRCm39) M137L possibly damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Lemd1 A G 1: 132,184,447 (GRCm39) D73G probably benign Het
Lpin1 G A 12: 16,623,700 (GRCm39) S228L probably benign Het
Mtcl3 C A 10: 29,024,288 (GRCm39) N401K probably damaging Het
Mtmr9 A G 14: 63,780,946 (GRCm39) L48P probably damaging Het
Ncoa3 T A 2: 165,893,529 (GRCm39) probably null Het
Ndc1 T A 4: 107,246,694 (GRCm39) N372K probably benign Het
Nmt1 A T 11: 102,950,902 (GRCm39) probably null Het
Or52s1 A T 7: 102,861,892 (GRCm39) H264L probably damaging Het
Pcdhgb6 T C 18: 37,876,758 (GRCm39) Y489H probably damaging Het
Rttn A T 18: 89,047,059 (GRCm39) K907M probably damaging Het
Sos1 T C 17: 80,716,025 (GRCm39) Y979C probably damaging Het
Spag6l C T 16: 16,584,877 (GRCm39) A424T possibly damaging Het
Stt3b A T 9: 115,095,233 (GRCm39) I266N probably damaging Het
Tet3 A G 6: 83,345,637 (GRCm39) L1600P probably benign Het
Tiam1 T A 16: 89,591,627 (GRCm39) I1358F probably damaging Het
Usp37 G T 1: 74,529,313 (GRCm39) T122N probably benign Het
Vit T C 17: 78,886,830 (GRCm39) S153P probably damaging Het
Other mutations in Ndufa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03172:Ndufa2 APN 18 36,877,278 (GRCm39) splice site probably null
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 2013-04-17