Incidental Mutation 'R4942:Ndufaf1'
ID 383163
Institutional Source Beutler Lab
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 # R4942 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 119485927-119493302 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119490547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 171 (E171G)
Ref Sequence ENSEMBL: ENSMUSP00000106426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028768] [ENSMUST00000110801] [ENSMUST00000110802]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000028768
AA Change: E173G

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028768
Gene: ENSMUSG00000027305
AA Change: E173G

Pfam:CIA30 128 301 3e-51 PFAM
Pfam:CBM_11 193 315 1.7e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110801
AA Change: E171G

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106425
Gene: ENSMUSG00000027305
AA Change: E171G

Pfam:CIA30 126 299 1.1e-47 PFAM
Pfam:CBM_11 127 312 1.3e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110802
AA Change: E171G

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106426
Gene: ENSMUSG00000027305
AA Change: E171G

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
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.6%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik A G 11: 25,720,472 (GRCm39) probably null Het
Adamts7 T C 9: 90,045,364 (GRCm39) S23P probably benign Het
Adamtsl1 T A 4: 86,259,451 (GRCm39) C824* probably null Het
Adgre1 A G 17: 57,713,903 (GRCm39) Y196C probably damaging Het
Arap1 A G 7: 101,051,009 (GRCm39) D542G possibly damaging Het
B3gat1 A G 9: 26,666,894 (GRCm39) D42G probably benign Het
Birc6 G A 17: 74,930,045 (GRCm39) A2412T probably damaging Het
Bnip5 T C 17: 29,122,232 (GRCm39) R420G probably benign Het
Bsn A G 9: 107,983,678 (GRCm39) Y3459H unknown Het
Cacnb1 T C 11: 97,893,809 (GRCm39) Y571C probably damaging Het
Cdk2ap2 G A 19: 4,147,508 (GRCm39) probably null Het
Cep57 A G 9: 13,724,723 (GRCm39) S265P probably damaging Het
Clca3a1 A G 3: 144,710,524 (GRCm39) I893T probably benign Het
Clca3a2 T A 3: 144,512,263 (GRCm39) E491V probably damaging Het
Cldn10 G A 14: 119,025,725 (GRCm39) G53S possibly damaging Het
Cobl A T 11: 12,204,185 (GRCm39) I832N probably damaging Het
Col9a2 T C 4: 120,910,316 (GRCm39) V487A possibly damaging Het
Cse1l C T 2: 166,771,714 (GRCm39) T325I probably damaging Het
Dlx6 A G 6: 6,863,468 (GRCm39) Q30R probably benign Het
Dnah8 T C 17: 30,948,116 (GRCm39) V1902A probably benign Het
Dusp8 A G 7: 141,635,965 (GRCm39) F542L possibly damaging Het
Emid1 T G 11: 5,079,430 (GRCm39) M323L probably benign Het
Ercc5 A G 1: 44,215,125 (GRCm39) D886G probably benign Het
Fam184b T C 5: 45,730,649 (GRCm39) E461G probably damaging Het
Fbn1 C A 2: 125,225,536 (GRCm39) C572F possibly damaging Het
Gigyf1 G T 5: 137,523,952 (GRCm39) V1041L possibly damaging Het
Grin3b A G 10: 79,811,556 (GRCm39) H714R probably damaging Het
Heatr1 A G 13: 12,428,391 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Lypd6b C A 2: 49,836,132 (GRCm39) H104Q probably benign Het
Man1a A T 10: 53,809,586 (GRCm39) probably null Het
Megf6 A T 4: 154,338,277 (GRCm39) D449V probably damaging Het
Mtor T C 4: 148,556,599 (GRCm39) V1003A probably benign Het
Ncan C A 8: 70,552,944 (GRCm39) W1096L probably damaging Het
Ndor1 C T 2: 25,138,133 (GRCm39) probably null Het
Nell1 T C 7: 49,770,397 (GRCm39) V152A possibly damaging Het
Nherf4 C A 9: 44,159,915 (GRCm39) G402* probably null Het
Nt5dc1 A T 10: 34,198,673 (GRCm39) V255E probably damaging Het
Or2a20 T A 6: 43,193,928 (GRCm39) F27Y probably damaging Het
Or2y1b A T 11: 49,208,375 (GRCm39) M1L probably null Het
Or52h7 A G 7: 104,214,212 (GRCm39) I261M probably benign Het
Or52z14 G A 7: 103,253,401 (GRCm39) R180H probably benign Het
Otud7a T C 7: 63,407,171 (GRCm39) I50T probably damaging Het
P2ry13 G A 3: 59,116,983 (GRCm39) T265I probably benign Het
Pde4d A G 13: 108,996,733 (GRCm39) S12G probably benign Het
Pigk C A 3: 152,450,154 (GRCm39) N219K probably damaging Het
Plcg1 T A 2: 160,595,509 (GRCm39) probably null Het
Psd2 A T 18: 36,111,717 (GRCm39) D114V probably damaging Het
Ptch1 A T 13: 63,672,884 (GRCm39) I770N probably benign Het
Ptprq A T 10: 107,524,290 (GRCm39) M481K probably benign Het
Rnf216 A C 5: 143,078,814 (GRCm39) M45R probably damaging Het
Rpsa T A 9: 119,960,129 (GRCm39) W231R probably benign Het
Ryr1 G T 7: 28,768,998 (GRCm39) T2797N probably damaging Het
Ryr3 A T 2: 112,666,602 (GRCm39) M1468K probably damaging Het
Slc6a7 A G 18: 61,137,589 (GRCm39) Y244H probably damaging Het
Slco6c1 T A 1: 97,009,049 (GRCm39) D462V probably damaging Het
Spata31d1b A T 13: 59,864,917 (GRCm39) E688D possibly damaging Het
Srpra G A 9: 35,126,766 (GRCm39) R508H probably benign Het
Tnrc18 A T 5: 142,773,737 (GRCm39) I181N unknown Het
Tnrc6a T C 7: 122,791,836 (GRCm39) F1785L probably damaging Het
Trio A T 15: 27,752,811 (GRCm39) D2174E probably benign Het
Ttn C T 2: 76,623,600 (GRCm39) V15326I probably damaging Het
Ubap2 T A 4: 41,245,461 (GRCm39) probably benign Het
Vmn2r113 C T 17: 23,177,321 (GRCm39) P702S probably damaging Het
Vmn2r66 A T 7: 84,656,980 (GRCm39) W142R probably damaging Het
Vmn2r73 A G 7: 85,519,582 (GRCm39) Y459H probably damaging Het
Wsb2 C T 5: 117,515,550 (GRCm39) T385M probably damaging 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
IGL02452:Ndufaf1 APN 2 119,486,907 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-04-27