Incidental Mutation 'IGL02167:Ndufa9'
ID 282776
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufa9
Ensembl Gene ENSMUSG00000000399
Gene Name NADH:ubiquinone oxidoreductase subunit A9
Synonyms 1010001N11Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02167
Quality Score
Status
Chromosome 6
Chromosomal Location 126798826-126826107 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 126821748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088194] [ENSMUST00000205002]
AlphaFold Q9DC69
Predicted Effect probably benign
Transcript: ENSMUST00000088194
SMART Domains Protein: ENSMUSP00000085523
Gene: ENSMUSG00000000399

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
SMART Domains Protein: ENSMUSP00000144904
Gene: ENSMUSG00000000399

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,122,721 (GRCm39) probably benign Het
Cacna1f T C X: 7,482,258 (GRCm39) Y581H probably damaging Het
Camsap1 C T 2: 25,824,312 (GRCm39) R1416H probably damaging Het
Ccdc117 T C 11: 5,481,333 (GRCm39) E266G possibly damaging Het
Ccdc9 A T 7: 16,018,284 (GRCm39) L8* probably null Het
Cited2 T C 10: 17,600,018 (GRCm39) S109P probably benign Het
Cnot4 T C 6: 35,033,159 (GRCm39) D286G possibly damaging Het
Col5a1 T C 2: 27,908,568 (GRCm39) I52T probably benign Het
Cry2 T C 2: 92,264,166 (GRCm39) N68S possibly damaging Het
Cul4a T C 8: 13,172,826 (GRCm39) F153S probably damaging Het
Ddr1 T C 17: 36,000,963 (GRCm39) S261G possibly damaging Het
Depdc5 G A 5: 33,061,145 (GRCm39) R324Q probably damaging Het
Dmgdh A G 13: 93,857,135 (GRCm39) probably benign Het
Epha8 A T 4: 136,658,405 (GRCm39) M990K probably damaging Het
Gpr137c G T 14: 45,517,412 (GRCm39) G383C probably damaging Het
Hydin T A 8: 111,145,055 (GRCm39) I802N possibly damaging Het
Ifne A G 4: 88,798,065 (GRCm39) Y118H possibly damaging Het
Kansl2 T C 15: 98,431,396 (GRCm39) probably benign Het
Lig4 T A 8: 10,021,821 (GRCm39) N653I probably benign Het
Nagk A G 6: 83,778,088 (GRCm39) D246G probably damaging Het
Nav1 A G 1: 135,398,699 (GRCm39) S628P probably damaging Het
Ncoa3 A G 2: 165,912,056 (GRCm39) Y1401C probably damaging Het
Nynrin G T 14: 56,100,792 (GRCm39) R194L probably damaging Het
Or10a4 A T 7: 106,696,868 (GRCm39) R65S probably benign Het
Or10ag53 G A 2: 87,082,542 (GRCm39) C87Y probably benign Het
Or13a17 T A 7: 140,271,664 (GRCm39) V282D probably damaging Het
Orc2 A T 1: 58,522,798 (GRCm39) probably benign Het
Oxgr1 T A 14: 120,259,342 (GRCm39) R288S probably damaging Het
Pgap6 T C 17: 26,338,045 (GRCm39) S450P probably damaging Het
Prkcg T C 7: 3,371,097 (GRCm39) probably null Het
Prox1 T C 1: 189,893,477 (GRCm39) N323D probably benign Het
Prrt1 A C 17: 34,850,829 (GRCm39) E215A possibly damaging Het
Rab2b T C 14: 52,506,153 (GRCm39) D103G probably damaging Het
Sardh G T 2: 27,081,987 (GRCm39) N846K probably damaging Het
Slc38a8 T A 8: 120,214,099 (GRCm39) T248S probably benign Het
Slc6a18 T C 13: 73,814,591 (GRCm39) probably null Het
Smcp T C 3: 92,491,506 (GRCm39) T114A unknown Het
Trpv1 A G 11: 73,145,623 (GRCm39) N754D probably damaging Het
Txnrd1 A T 10: 82,717,745 (GRCm39) H243L probably benign Het
Wdfy3 T C 5: 102,109,023 (GRCm39) M125V probably damaging Het
Wnk2 T C 13: 49,224,601 (GRCm39) probably null Het
Wrn T C 8: 33,807,583 (GRCm39) M292V probably damaging Het
Zbtb17 T C 4: 141,189,140 (GRCm39) L20P possibly damaging Het
Zfp608 T C 18: 55,121,296 (GRCm39) H97R probably damaging Het
Zfp68 T A 5: 138,604,629 (GRCm39) M565L probably benign Het
Zfp687 T C 3: 94,917,841 (GRCm39) T644A probably benign Het
Zfp777 C T 6: 48,021,460 (GRCm39) G54D probably damaging Het
Other mutations in Ndufa9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01739:Ndufa9 APN 6 126,821,777 (GRCm39) missense probably damaging 1.00
IGL02206:Ndufa9 APN 6 126,821,366 (GRCm39) nonsense probably null
IGL03186:Ndufa9 APN 6 126,821,855 (GRCm39) missense possibly damaging 0.47
IGL03356:Ndufa9 APN 6 126,821,813 (GRCm39) missense possibly damaging 0.89
R0310:Ndufa9 UTSW 6 126,804,495 (GRCm39) splice site probably benign
R1118:Ndufa9 UTSW 6 126,799,031 (GRCm39) missense probably damaging 1.00
R1119:Ndufa9 UTSW 6 126,799,031 (GRCm39) missense probably damaging 1.00
R1714:Ndufa9 UTSW 6 126,799,154 (GRCm39) critical splice acceptor site probably null
R2207:Ndufa9 UTSW 6 126,821,772 (GRCm39) missense probably damaging 1.00
R2483:Ndufa9 UTSW 6 126,821,362 (GRCm39) missense possibly damaging 0.48
R3617:Ndufa9 UTSW 6 126,826,071 (GRCm39) unclassified probably benign
R3623:Ndufa9 UTSW 6 126,821,362 (GRCm39) missense possibly damaging 0.48
R4619:Ndufa9 UTSW 6 126,804,498 (GRCm39) splice site probably null
R4855:Ndufa9 UTSW 6 126,804,505 (GRCm39) nonsense probably null
R4931:Ndufa9 UTSW 6 126,813,283 (GRCm39) missense probably damaging 1.00
R4965:Ndufa9 UTSW 6 126,799,026 (GRCm39) missense probably benign 0.01
R5109:Ndufa9 UTSW 6 126,809,520 (GRCm39) splice site probably null
R7373:Ndufa9 UTSW 6 126,811,421 (GRCm39) missense probably damaging 1.00
R9178:Ndufa9 UTSW 6 126,826,050 (GRCm39) missense probably benign
Z1176:Ndufa9 UTSW 6 126,821,778 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16