Incidental Mutation 'IGL03186:Ndufa9'
ID412482
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufa9
Ensembl Gene ENSMUSG00000000399
Gene NameNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03186
Quality Score
Status
Chromosome6
Chromosomal Location126821721-126849136 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 126844892 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 36 (V36A)
Ref Sequence ENSEMBL: ENSMUSP00000085523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088194] [ENSMUST00000205002]
Predicted Effect possibly damaging
Transcript: ENSMUST00000088194
AA Change: V36A

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000085523
Gene: ENSMUSG00000000399
AA Change: V36A

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 probably benign
Transcript: ENSMUST00000205002
AA Change: V40A

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000144904
Gene: ENSMUSG00000000399
AA Change: V40A

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,433,618 I4769T possibly damaging Het
Ankrd53 T C 6: 83,763,713 I106T probably benign Het
Arsi A G 18: 60,917,473 D476G probably damaging Het
Atp2c1 T C 9: 105,413,130 K760E probably benign Het
C030048H21Rik A G 2: 26,253,338 probably null Het
Cep152 A G 2: 125,563,975 S1546P probably benign Het
Clock T C 5: 76,243,082 H291R probably damaging Het
Fkbp4 T C 6: 128,434,800 T109A probably benign Het
Igkv1-117 T C 6: 68,121,799 Y111H probably damaging Het
Kif20b A T 19: 34,934,944 E250V probably benign Het
Mef2c A G 13: 83,652,868 N229S probably benign Het
Neb T C 2: 52,210,659 probably benign Het
Neb G A 2: 52,169,088 H213Y probably damaging Het
Neurl1a T A 19: 47,240,477 F152Y probably damaging Het
Nlrp14 G T 7: 107,186,670 C651F probably damaging Het
Odf3l1 T G 9: 56,849,072 N220T probably benign Het
Olfr1239 T A 2: 89,417,844 T190S probably damaging Het
Olfr202 A T 16: 59,283,903 V198E probably damaging Het
Olfr836 T A 9: 19,121,904 D316E probably benign Het
Pex2 C A 3: 5,561,717 A11S probably benign Het
Pitpna C A 11: 75,612,250 H137N probably benign Het
Pole T G 5: 110,299,920 probably null Het
Rft1 T A 14: 30,658,349 I35N possibly damaging Het
Serpina1e T C 12: 103,949,203 H248R probably benign Het
Sgsm1 C T 5: 113,285,021 A254T probably benign Het
St3gal3 G A 4: 117,940,054 P331S possibly damaging Het
Ttn T A 2: 76,771,762 K16773* probably null Het
Zfp687 T C 3: 95,011,094 T456A probably benign Het
Zranb1 A G 7: 132,950,203 I220M possibly damaging 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
IGL03356:Ndufa9 APN 6 126844850 missense possibly damaging 0.89
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
Z1176:Ndufa9 UTSW 6 126844815 missense probably damaging 1.00
Posted On2016-08-02