Incidental Mutation 'R1119:Ndufa9'
ID 97716
Institutional Source Beutler Lab
Gene Symbol Ndufa9
Ensembl Gene ENSMUSG00000000399
Gene Name NADH:ubiquinone oxidoreductase subunit A9
Synonyms 1010001N11Rik
MMRRC Submission 039192-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1119 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 126798826-126826107 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126799031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 362 (L362Q)
Ref Sequence ENSEMBL: ENSMUSP00000144904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088194] [ENSMUST00000205002]
AlphaFold Q9DC69
Predicted Effect probably damaging
Transcript: ENSMUST00000088194
AA Change: L358Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085523
Gene: ENSMUSG00000000399
AA Change: L358Q

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: ENSMUST00000201350
Predicted Effect probably damaging
Transcript: ENSMUST00000205002
AA Change: L362Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144904
Gene: ENSMUSG00000000399
AA Change: L362Q

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
Meta Mutation Damage Score 0.6208 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 100% (51/51)
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
Adamtsl3 A C 7: 82,189,525 (GRCm39) E583A probably damaging Het
Aoah T A 13: 21,099,108 (GRCm39) probably benign Het
Atf7ip2 A G 16: 10,058,476 (GRCm39) K305R possibly damaging Het
Bltp1 T G 3: 37,041,194 (GRCm39) V2524G probably damaging Het
Cd200r2 A G 16: 44,729,969 (GRCm39) N171S probably damaging Het
Cfap57 G A 4: 118,463,873 (GRCm39) Q327* probably null Het
Ckap2l A T 2: 129,114,492 (GRCm39) probably benign Het
Cul2 A G 18: 3,419,335 (GRCm39) probably benign Het
Ddx60 G A 8: 62,395,578 (GRCm39) V172M probably damaging Het
Drp2 T C X: 133,342,071 (GRCm39) L545P probably damaging Het
Ezh1 A G 11: 101,101,361 (GRCm39) probably benign Het
Gipc2 A G 3: 151,799,833 (GRCm39) F299S probably damaging Het
Gsk3b T C 16: 38,028,346 (GRCm39) probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hikeshi A G 7: 89,584,938 (GRCm39) S89P probably benign Het
Hmcn1 C T 1: 150,494,679 (GRCm39) A4137T possibly damaging Het
Itprid1 T C 6: 55,866,155 (GRCm39) F183L probably damaging Het
Larp1b C A 3: 40,987,963 (GRCm39) R62S possibly damaging Het
Lgr5 A T 10: 115,296,716 (GRCm39) probably null Het
Lpin1 C A 12: 16,613,722 (GRCm39) D449Y probably damaging Het
Macrod2 A T 2: 140,242,826 (GRCm39) I31L probably benign Het
Meig1 T C 2: 3,410,311 (GRCm39) D63G probably damaging Het
Nlrp9c A T 7: 26,083,862 (GRCm39) D572E probably benign Het
Nxpe5 G A 5: 138,237,658 (GRCm39) D61N probably benign Het
Ogdh T A 11: 6,290,544 (GRCm39) H376Q probably damaging Het
P4ha3 T C 7: 99,962,535 (GRCm39) I431T probably damaging Het
Pcdhb14 G A 18: 37,581,640 (GRCm39) V249M probably damaging Het
Pcnp A G 16: 55,844,754 (GRCm39) S49P probably damaging Het
Pik3r6 C T 11: 68,436,698 (GRCm39) T654I probably benign Het
Rptn A G 3: 93,303,552 (GRCm39) Y295C possibly damaging Het
Sec16b A G 1: 157,392,404 (GRCm39) D924G possibly damaging Het
Setd1b C A 5: 123,285,779 (GRCm39) T275K unknown Het
Sgcb T A 5: 73,801,757 (GRCm39) K36I probably damaging Het
Smg7 A T 1: 152,742,326 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Stab2 T C 10: 86,695,619 (GRCm39) D599G possibly damaging Het
Stk36 A G 1: 74,671,925 (GRCm39) E875G probably benign Het
Tagln3 C A 16: 45,544,635 (GRCm39) R12L probably damaging Het
Tax1bp1 C A 6: 52,718,933 (GRCm39) probably benign Het
Thnsl1 A G 2: 21,217,857 (GRCm39) N16S probably damaging Het
Ticrr C T 7: 79,343,701 (GRCm39) P1189S probably benign Het
Tnxb G A 17: 34,904,017 (GRCm39) V1053M probably damaging Het
Tpp2 T C 1: 44,031,556 (GRCm39) probably null Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Vmn2r60 A T 7: 41,844,365 (GRCm39) Q576L possibly damaging Het
Zfp62 G T 11: 49,107,517 (GRCm39) R536L probably damaging Het
Zfp958 A T 8: 4,676,169 (GRCm39) N46Y possibly damaging Het
Other mutations in Ndufa9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01739:Ndufa9 APN 6 126,821,777 (GRCm39) missense probably damaging 1.00
IGL02167:Ndufa9 APN 6 126,821,748 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AACCATGCAGCCTGAGATCATAGC -3'
(R):5'- AGAGATAGCTCCTGCCACGTTCAC -3'

Sequencing Primer
(F):5'- GGGCCTTGGTATAAGAATTCCAAAC -3'
(R):5'- TTGCCTCAGTGATGAGCC -3'
Posted On 2014-01-05