Incidental Mutation 'IGL02452:Ndufaf1'
ID 293708
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndufaf1
Ensembl Gene ENSMUSG00000027305
Gene Name NADH:ubiquinone oxidoreductase complex assembly factor 1
Synonyms 2410001M24Rik, CIA30, CGI-65
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # IGL02452
Quality Score
Status
Chromosome 2
Chromosomal Location 119485927-119493302 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119486907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 260 (F260Y)
Ref Sequence ENSEMBL: ENSMUSP00000106426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028768] [ENSMUST00000110801] [ENSMUST00000110802]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000028768
AA Change: F262Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028768
Gene: ENSMUSG00000027305
AA Change: F262Y

DomainStartEndE-ValueType
Pfam:CIA30 128 301 3e-51 PFAM
Pfam:CBM_11 193 315 1.7e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110801
AA Change: F260Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106425
Gene: ENSMUSG00000027305
AA Change: F260Y

DomainStartEndE-ValueType
Pfam:CIA30 126 299 1.1e-47 PFAM
Pfam:CBM_11 127 312 1.3e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110802
AA Change: F260Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106426
Gene: ENSMUSG00000027305
AA Change: F260Y

DomainStartEndE-ValueType
Pfam:CIA30 126 299 1.1e-47 PFAM
Pfam:CBM_11 127 312 1.3e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154127
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm C A 3: 153,647,607 (GRCm39) V11F probably damaging Het
Alk A T 17: 72,209,620 (GRCm39) Y941* probably null Het
Blm A T 7: 80,153,125 (GRCm39) probably null Het
Blvrb T C 7: 27,158,765 (GRCm39) V55A possibly damaging Het
Cdh23 T A 10: 60,153,721 (GRCm39) T2288S probably damaging Het
Csnk1g1 T A 9: 65,915,067 (GRCm39) M242K probably damaging Het
Cyp2c29 G A 19: 39,279,291 (GRCm39) G96D possibly damaging Het
Cyp2d26 T A 15: 82,676,827 (GRCm39) H173L probably benign Het
Cyp2g1 T A 7: 26,510,871 (GRCm39) S131T probably benign Het
Dusp29 G A 14: 21,752,990 (GRCm39) T52I probably damaging Het
Dzip3 T A 16: 48,758,900 (GRCm39) probably benign Het
Espl1 T C 15: 102,208,274 (GRCm39) S427P probably damaging Het
Fasn A T 11: 120,699,006 (GRCm39) D2424E probably benign Het
Flrt2 G A 12: 95,746,257 (GRCm39) M198I probably benign Het
Gen1 A T 12: 11,292,576 (GRCm39) S404R probably benign Het
Gm11596 A T 11: 99,683,806 (GRCm39) C105S unknown Het
Hdlbp A T 1: 93,345,233 (GRCm39) V714D probably damaging Het
Igkv4-80 A G 6: 68,993,816 (GRCm39) V25A probably benign Het
Igkv8-27 C T 6: 70,148,925 (GRCm39) W76* probably null Het
Ikzf1 T C 11: 11,698,545 (GRCm39) L132P probably damaging Het
Kcna6 C A 6: 126,715,443 (GRCm39) C482F possibly damaging Het
Lhx9 A T 1: 138,769,580 (GRCm39) L47Q probably damaging Het
Lrp4 T A 2: 91,304,347 (GRCm39) D175E probably damaging Het
Lrrtm3 T C 10: 63,923,815 (GRCm39) K451E probably damaging Het
Mcm9 C T 10: 53,417,653 (GRCm39) V17M probably damaging Het
Mios T A 6: 8,222,492 (GRCm39) S475R probably benign Het
Mmp24 C T 2: 155,657,708 (GRCm39) R533C probably damaging Het
Moxd1 C T 10: 24,158,650 (GRCm39) P435S probably damaging Het
Mta2 T A 19: 8,927,670 (GRCm39) I497N probably benign Het
Mtus2 T C 5: 148,014,473 (GRCm39) V422A probably benign Het
Nfasc C T 1: 132,548,662 (GRCm39) probably null Het
Nid1 A T 13: 13,683,305 (GRCm39) T1128S probably benign Het
Odad2 C T 18: 7,129,461 (GRCm39) E906K probably damaging Het
Or51f1d A G 7: 102,701,138 (GRCm39) D211G probably benign Het
Pcdh12 G A 18: 38,414,746 (GRCm39) P793L probably benign Het
Pclo A T 5: 14,726,980 (GRCm39) probably benign Het
Prpf31 T A 7: 3,637,185 (GRCm39) N161K possibly damaging Het
Prpf6 T G 2: 181,290,878 (GRCm39) N656K probably benign Het
Ptprn T A 1: 75,234,813 (GRCm39) H258L probably benign Het
Rab19 A G 6: 39,366,732 (GRCm39) T216A probably benign Het
Ryr3 A C 2: 112,664,335 (GRCm39) L1652W probably damaging Het
Six2 A C 17: 85,992,806 (GRCm39) S232R possibly damaging Het
Spag17 T C 3: 99,934,707 (GRCm39) V663A probably benign Het
Spag5 A G 11: 78,195,449 (GRCm39) N252S probably benign Het
Spata31e4 A T 13: 50,857,113 (GRCm39) H917L probably damaging Het
Sptb C T 12: 76,655,810 (GRCm39) probably null Het
Synj1 A G 16: 90,758,253 (GRCm39) probably benign Het
Tekt2 T C 4: 126,218,645 (GRCm39) H36R possibly damaging Het
Tjp1 A T 7: 64,962,403 (GRCm39) M1258K probably damaging Het
Txnrd3 T C 6: 89,651,777 (GRCm39) *502Q probably null Het
Other mutations in Ndufaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Ndufaf1 APN 2 119,490,950 (GRCm39) missense probably damaging 1.00
IGL01871:Ndufaf1 APN 2 119,488,768 (GRCm39) nonsense probably null
IGL03087:Ndufaf1 APN 2 119,486,280 (GRCm39) splice site probably benign
R1211:Ndufaf1 UTSW 2 119,486,156 (GRCm39) missense probably damaging 1.00
R2420:Ndufaf1 UTSW 2 119,486,218 (GRCm39) missense probably damaging 1.00
R2421:Ndufaf1 UTSW 2 119,486,218 (GRCm39) missense probably damaging 1.00
R2422:Ndufaf1 UTSW 2 119,486,218 (GRCm39) missense probably damaging 1.00
R3824:Ndufaf1 UTSW 2 119,490,752 (GRCm39) missense probably benign 0.30
R4942:Ndufaf1 UTSW 2 119,490,547 (GRCm39) missense possibly damaging 0.83
R5382:Ndufaf1 UTSW 2 119,490,893 (GRCm39) missense possibly damaging 0.75
R5460:Ndufaf1 UTSW 2 119,490,958 (GRCm39) missense probably benign 0.02
R5732:Ndufaf1 UTSW 2 119,490,521 (GRCm39) nonsense probably null
R5777:Ndufaf1 UTSW 2 119,490,963 (GRCm39) nonsense probably null
R5919:Ndufaf1 UTSW 2 119,490,709 (GRCm39) missense possibly damaging 0.51
R6371:Ndufaf1 UTSW 2 119,490,534 (GRCm39) missense probably damaging 1.00
R6378:Ndufaf1 UTSW 2 119,486,207 (GRCm39) missense probably damaging 0.99
R7202:Ndufaf1 UTSW 2 119,488,907 (GRCm39) missense probably benign 0.39
R7224:Ndufaf1 UTSW 2 119,488,877 (GRCm39) missense probably damaging 1.00
R7847:Ndufaf1 UTSW 2 119,490,534 (GRCm39) missense probably damaging 1.00
R8208:Ndufaf1 UTSW 2 119,490,827 (GRCm39) missense probably benign 0.01
R8319:Ndufaf1 UTSW 2 119,490,568 (GRCm39) missense probably damaging 1.00
R9236:Ndufaf1 UTSW 2 119,490,712 (GRCm39) missense possibly damaging 0.82
Posted On 2015-04-16