Incidental Mutation 'R7224:Ndufaf1'
ID 561999
Institutional Source Beutler Lab
Gene Symbol Ndufaf1
Ensembl Gene ENSMUSG00000027305
Gene Name NADH:ubiquinone oxidoreductase complex assembly factor 1
Synonyms 2410001M24Rik, CIA30, CGI-65
MMRRC Submission 045296-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R7224 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 119485927-119493302 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 119488877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 216 (R216C)
Ref Sequence ENSEMBL: ENSMUSP00000028768 (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: R216C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028768
Gene: ENSMUSG00000027305
AA Change: R216C

Pfam:CIA30 128 301 3e-51 PFAM
Pfam:CBM_11 193 315 1.7e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110801
AA Change: R214C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106425
Gene: ENSMUSG00000027305
AA Change: R214C

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: R214C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106426
Gene: ENSMUSG00000027305
AA Change: R214C

Pfam:CIA30 126 299 1.1e-47 PFAM
Pfam:CBM_11 127 312 1.3e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
Validation Efficiency 99% (79/80)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac C T 3: 59,943,275 (GRCm39) T60M probably benign Het
Actn4 C T 7: 28,661,509 (GRCm39) A34T probably benign Het
Acvrl1 A G 15: 101,041,245 (GRCm39) M466V probably benign Het
Adamts7 T C 9: 90,067,868 (GRCm39) Y453H probably damaging Het
Amfr G A 8: 94,711,484 (GRCm39) P351S probably damaging Het
Ankrd26 G A 6: 118,516,688 (GRCm39) T492M probably benign Het
Anxa6 A G 11: 54,876,993 (GRCm39) F547L probably damaging Het
Ap5m1 T G 14: 49,318,384 (GRCm39) Y394D unknown Het
Atic G A 1: 71,610,014 (GRCm39) V342I probably benign Het
Atl1 C A 12: 70,002,127 (GRCm39) T362N probably benign Het
Atp10a A T 7: 58,447,219 (GRCm39) M654L probably benign Het
B3gnt5 A T 16: 19,588,503 (GRCm39) M241L probably benign Het
Bbs7 A G 3: 36,659,877 (GRCm39) V186A possibly damaging Het
Brme1 A G 8: 84,898,842 (GRCm39) T577A probably benign Het
C8b T C 4: 104,637,795 (GRCm39) L89P probably damaging Het
Capn7 G T 14: 31,092,678 (GRCm39) E742* probably null Het
Ccdc162 G A 10: 41,437,187 (GRCm39) R1741C probably damaging Het
Cdhr17 T C 5: 17,041,592 (GRCm39) V615A possibly damaging Het
Chsy3 T A 18: 59,542,047 (GRCm39) L395H probably damaging Het
Cnot9 A G 1: 74,556,388 (GRCm39) T62A probably benign Het
Cyfip1 AGTGT AGT 7: 55,577,937 (GRCm39) probably null Het
Cyp2d12 T A 15: 82,441,849 (GRCm39) probably null Het
Dnah7a A G 1: 53,436,420 (GRCm39) V3974A probably benign Het
Dync1h1 G A 12: 110,584,196 (GRCm39) G533D possibly damaging Het
Eddm13 T G 7: 6,271,801 (GRCm39) M77R probably benign Het
Elfn1 A G 5: 139,958,228 (GRCm39) S411G probably benign Het
Enpp3 T C 10: 24,652,782 (GRCm39) D725G possibly damaging Het
Fmnl1 T C 11: 103,073,595 (GRCm39) probably null Het
Fndc8 T C 11: 82,783,151 (GRCm39) M44T probably benign Het
Gcgr A T 11: 120,425,538 (GRCm39) probably benign Het
Ggt1 T A 10: 75,410,110 (GRCm39) V14D possibly damaging Het
Gigyf2 A G 1: 87,331,447 (GRCm39) I198M unknown Het
Gm6034 T A 17: 36,367,331 (GRCm39) S59T unknown Het
Gm6408 G A 5: 146,421,180 (GRCm39) V270I probably benign Het
Gpr20 A T 15: 73,567,981 (GRCm39) I136N probably damaging Het
Ide T C 19: 37,268,160 (GRCm39) E565G Het
Igsf9 T C 1: 172,322,349 (GRCm39) S515P probably damaging Het
Kbtbd12 G A 6: 88,590,965 (GRCm39) R416* probably null Het
Kcnd3 A T 3: 105,576,400 (GRCm39) I615F probably damaging Het
Kcnk7 A T 19: 5,756,805 (GRCm39) M265L probably benign Het
Klhdc1 G A 12: 69,309,923 (GRCm39) S275N probably damaging Het
Ldc1 C G 4: 130,112,992 (GRCm39) A135P probably damaging Het
Lrba A C 3: 86,302,553 (GRCm39) N1871T probably damaging Het
Lrrk1 A G 7: 65,982,134 (GRCm39) V169A probably damaging Het
Magi1 A G 6: 93,660,070 (GRCm39) I1175T probably benign Het
Man1a2 T C 3: 100,489,369 (GRCm39) T537A possibly damaging Het
Mrpl17 T C 7: 105,459,209 (GRCm39) N129S probably damaging Het
Mup5 G A 4: 61,750,622 (GRCm39) R174C probably damaging Het
Neb T C 2: 52,224,671 (GRCm39) probably null Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or52m2 A T 7: 102,263,974 (GRCm39) M74K probably damaging Het
Or5a1 T C 19: 12,097,912 (GRCm39) T55A probably benign Het
Or8b12b G A 9: 37,684,711 (GRCm39) G252D possibly damaging Het
Osbpl8 C T 10: 111,110,872 (GRCm39) P458L possibly damaging Het
Pcdh20 T C 14: 88,706,511 (GRCm39) E263G possibly damaging Het
Pkd1l1 A G 11: 8,895,241 (GRCm39) L623P Het
Plxdc1 T C 11: 97,823,153 (GRCm39) T363A possibly damaging Het
Pole3 T C 4: 62,442,287 (GRCm39) D111G unknown Het
R3hdm2 T A 10: 127,294,022 (GRCm39) L172Q probably damaging Het
Rbm33 T C 5: 28,599,322 (GRCm39) V90A Het
Rcbtb1 C G 14: 59,465,828 (GRCm39) I390M probably damaging Het
Romo1 G A 2: 155,986,295 (GRCm39) probably benign Het
Sars1 A G 3: 108,335,519 (GRCm39) Y410H probably damaging Het
Sesn2 T C 4: 132,224,724 (GRCm39) T327A probably benign Het
Slc30a5 A G 13: 100,945,762 (GRCm39) V530A probably damaging Het
Slc30a9 G A 5: 67,473,044 (GRCm39) E43K probably benign Het
Slc38a2 A C 15: 96,589,240 (GRCm39) L418W probably damaging Het
Snx14 T C 9: 88,276,614 (GRCm39) E557G possibly damaging Het
Spata33 T A 8: 123,948,737 (GRCm39) I123K probably damaging Het
Tdrd3 A T 14: 87,714,839 (GRCm39) H170L probably damaging Het
Trpm1 A G 7: 63,868,854 (GRCm39) probably null Het
Tsr3 A T 17: 25,461,569 (GRCm39) E302D probably benign Het
Ttll11 A G 2: 35,792,685 (GRCm39) I386T probably damaging Het
Usp2 C T 9: 43,987,266 (GRCm39) T188M possibly damaging Het
Usp44 A G 10: 93,681,855 (GRCm39) I102V probably benign Het
Wasf1 A G 10: 40,802,546 (GRCm39) N67S probably benign Het
Zfp445 T C 9: 122,681,208 (GRCm39) N911S probably benign Het
Zfp467 A G 6: 48,421,903 (GRCm39) 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
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
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
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 2019-06-26