Incidental Mutation 'IGL03356:Ndufa9'
ID 419951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufa9
Ensembl Gene ENSMUSG00000000399
Gene Name NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03356
Quality Score
Status
Chromosome 6
Chromosomal Location 126821721-126849136 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126844850 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 54 (V54A)
Ref Sequence ENSEMBL: ENSMUSP00000144904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088194] [ENSMUST00000205002]
AlphaFold Q9DC69
Predicted Effect possibly damaging
Transcript: ENSMUST00000088194
AA Change: V50A

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000085523
Gene: ENSMUSG00000000399
AA Change: V50A

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
low complexity region 46 55 N/A INTRINSIC
Pfam:NmrA 56 204 1.9e-13 PFAM
Pfam:Epimerase 56 264 4.7e-11 PFAM
Pfam:3Beta_HSD 57 200 1.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200890
Predicted Effect possibly damaging
Transcript: ENSMUST00000205002
AA Change: V54A

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144904
Gene: ENSMUSG00000000399
AA Change: V54A

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
low complexity region 46 55 N/A INTRINSIC
Pfam:NmrA 56 204 1.9e-13 PFAM
Pfam:Epimerase 56 264 4.7e-11 PFAM
Pfam:3Beta_HSD 57 200 1.4e-11 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930467E23Rik A G 8: 19,749,447 I304V probably benign Het
A1bg A C 15: 60,919,888 M233R probably benign Het
Aadat T C 8: 60,531,691 M256T probably damaging Het
Adamts16 T C 13: 70,753,291 N889S probably benign Het
Camkk2 A T 5: 122,743,874 I235N probably damaging Het
Card6 C T 15: 5,100,241 A558T probably benign Het
Ccdc105 A G 10: 78,747,132 C473R possibly damaging Het
Ccdc175 T G 12: 72,139,893 probably null Het
Crot A G 5: 8,988,295 probably benign Het
Cyp2c67 A G 19: 39,639,961 S180P probably damaging Het
Ddx55 A G 5: 124,554,753 N81S possibly damaging Het
Dennd3 C T 15: 73,568,633 T1171M probably benign Het
Dnah7a T C 1: 53,503,934 D2359G probably benign Het
Dpp8 T A 9: 65,045,787 N248K probably benign Het
Ganc T C 2: 120,435,288 I439T probably benign Het
Gdpgp1 T C 7: 80,238,695 I158T possibly damaging Het
Grm3 T C 5: 9,512,206 D548G possibly damaging Het
H2-DMb1 T A 17: 34,157,540 probably benign Het
Hecw2 A G 1: 53,927,058 probably benign Het
Hs3st2 A G 7: 121,393,166 E113G probably damaging Het
Hspa4 C A 11: 53,269,800 R483L probably damaging Het
Ik C A 18: 36,756,604 S490R probably damaging Het
Ldlrad1 G A 4: 107,214,838 V86M possibly damaging Het
Mfsd4b1 A C 10: 40,002,831 F357V probably damaging Het
Nfe2l2 A G 2: 75,679,200 I92T probably benign Het
Oas1a A G 5: 120,905,845 S75P probably damaging Het
Oca2 T G 7: 56,535,968 M814R probably benign Het
Phlpp2 A G 8: 109,935,617 T879A probably benign Het
Rpe65 A T 3: 159,615,577 Y342F possibly damaging Het
Satb2 T C 1: 56,891,174 K230R probably damaging Het
Slc4a4 A G 5: 89,122,483 T297A probably benign Het
Slpi T C 2: 164,356,209 T22A probably benign Het
Sphkap A T 1: 83,276,831 S779T probably damaging Het
Synj1 A G 16: 90,987,392 F286S probably damaging Het
Tigd2 T A 6: 59,211,705 I519K probably benign Het
Tyr G T 7: 87,492,714 L136I possibly damaging Het
Vmn1r34 A T 6: 66,636,986 M256K probably benign Het
Zmym2 T A 14: 56,957,060 C1258* probably null Het
Other mutations in Ndufa9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01739:Ndufa9 APN 6 126844814 missense probably damaging 1.00
IGL02167:Ndufa9 APN 6 126844785 splice site probably benign
IGL02206:Ndufa9 APN 6 126844403 nonsense probably null
IGL03186:Ndufa9 APN 6 126844892 missense possibly damaging 0.47
R0310:Ndufa9 UTSW 6 126827532 splice site probably benign
R1118:Ndufa9 UTSW 6 126822068 missense probably damaging 1.00
R1119:Ndufa9 UTSW 6 126822068 missense probably damaging 1.00
R1714:Ndufa9 UTSW 6 126822191 critical splice acceptor site probably null
R2207:Ndufa9 UTSW 6 126844809 missense probably damaging 1.00
R2483:Ndufa9 UTSW 6 126844399 missense possibly damaging 0.48
R3617:Ndufa9 UTSW 6 126849108 unclassified probably benign
R3623:Ndufa9 UTSW 6 126844399 missense possibly damaging 0.48
R4619:Ndufa9 UTSW 6 126827535 splice site probably null
R4855:Ndufa9 UTSW 6 126827542 nonsense probably null
R4931:Ndufa9 UTSW 6 126836320 missense probably damaging 1.00
R4965:Ndufa9 UTSW 6 126822063 missense probably benign 0.01
R5109:Ndufa9 UTSW 6 126832557 splice site probably null
R7373:Ndufa9 UTSW 6 126834458 missense probably damaging 1.00
R9178:Ndufa9 UTSW 6 126849087 missense probably benign
Z1176:Ndufa9 UTSW 6 126844815 missense probably damaging 1.00
Posted On 2016-08-02