Incidental Mutation 'R8319:Ndufaf1'
ID 641839
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 067856-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R8319 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 119485927-119493302 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119490568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 166 (L166P)
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: L166P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028768
Gene: ENSMUSG00000027305
AA Change: L166P

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: L164P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106425
Gene: ENSMUSG00000027305
AA Change: L164P

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: L164P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106426
Gene: ENSMUSG00000027305
AA Change: L164P

DomainStartEndE-ValueType
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: 99.7%
  • 20x: 99.1%
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
4921517D22Rik A T 13: 59,838,486 (GRCm39) D115E probably benign Het
Abcc1 T A 16: 14,214,315 (GRCm39) L197Q probably damaging Het
Adamts14 T G 10: 61,057,706 (GRCm39) N547T probably benign Het
Ampd3 T A 7: 110,394,982 (GRCm39) S301R probably benign Het
Atg9a G A 1: 75,162,342 (GRCm39) Q523* probably null Het
Atl1 A T 12: 70,002,093 (GRCm39) T351S probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Cacna1c T C 6: 118,614,735 (GRCm39) I1315V Het
Col12a1 C T 9: 79,555,979 (GRCm39) G2013R probably damaging Het
Cpne2 A G 8: 95,280,040 (GRCm39) D153G probably benign Het
Cryzl1 T C 16: 91,489,251 (GRCm39) S205G probably benign Het
Cux1 C T 5: 136,594,251 (GRCm39) A5T probably benign Het
Ddx60 T C 8: 62,395,669 (GRCm39) probably null Het
Dnajc13 G A 9: 104,067,590 (GRCm39) P1190S probably benign Het
Fbxw7 T A 3: 84,881,859 (GRCm39) V526E Het
Fig4 C A 10: 41,139,097 (GRCm39) G369C probably damaging Het
Gabra1 C T 11: 42,026,315 (GRCm39) A326T probably damaging Het
Gbe1 G A 16: 70,284,964 (GRCm39) G429S probably benign Het
Gtf3c5 A T 2: 28,460,506 (GRCm39) H364Q probably benign Het
Hcfc2 T A 10: 82,574,201 (GRCm39) I125N probably damaging Het
Hnrnpul1 A T 7: 25,453,902 (GRCm39) D53E probably benign Het
Ift56 T A 6: 38,382,880 (GRCm39) H338Q probably damaging Het
Il18 A T 9: 50,492,818 (GRCm39) D128V possibly damaging Het
Intu T A 3: 40,608,202 (GRCm39) S71R probably damaging Het
Klhl6 T C 16: 19,775,940 (GRCm39) E206G possibly damaging Het
Lcor T A 19: 41,571,343 (GRCm39) S179T probably damaging Het
Mcub A G 3: 129,727,328 (GRCm39) F93L probably damaging Het
Mdga2 T C 12: 67,267,803 (GRCm39) Y5C unknown Het
Naip1 C A 13: 100,565,721 (GRCm39) V354L probably benign Het
Naip5 A G 13: 100,358,167 (GRCm39) V1023A probably benign Het
Ninl A T 2: 150,801,827 (GRCm39) L147H probably damaging Het
Or4c12 A G 2: 89,774,024 (GRCm39) V145A possibly damaging Het
Or51b17 A G 7: 103,542,636 (GRCm39) I102T probably damaging Het
Otogl C T 10: 107,689,127 (GRCm39) probably null Het
Otulin AT ATT 15: 27,606,404 (GRCm39) probably null Het
Phf11b A C 14: 59,576,146 (GRCm39) L30R probably damaging Het
Prdm13 G T 4: 21,679,327 (GRCm39) H388N unknown Het
Pwwp2b T C 7: 138,835,099 (GRCm39) V180A probably damaging Het
Reep4 T A 14: 70,783,951 (GRCm39) S23T probably damaging Het
Rusc2 T A 4: 43,425,378 (GRCm39) L1161Q probably damaging Het
Scgb1b3 G A 7: 31,075,404 (GRCm39) probably null Het
Scn10a G T 9: 119,499,455 (GRCm39) N279K probably benign Het
Smurf2 A G 11: 106,715,578 (GRCm39) L643S probably damaging Het
Sox12 G A 2: 152,239,192 (GRCm39) P143S unknown Het
Specc1 C T 11: 62,009,501 (GRCm39) T339I possibly damaging Het
Tas2r139 T C 6: 42,118,720 (GRCm39) V284A probably benign Het
Thumpd3 T A 6: 113,040,107 (GRCm39) C330* probably null Het
Ttn A G 2: 76,537,298 (GRCm39) S34877P possibly damaging Het
Zfp568 T C 7: 29,697,629 (GRCm39) S104P possibly damaging Het
Zfp933 G A 4: 147,912,910 (GRCm39) H50Y possibly 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
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
R9236:Ndufaf1 UTSW 2 119,490,712 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- AGGCCAAGCAGTTACATACC -3'
(R):5'- GAAGGATGAAATTGTGGCTCATTTG -3'

Sequencing Primer
(F):5'- GCAGTTACATACCTCCTTATAAGGC -3'
(R):5'- TCATTTGAGAGGCCCAGACG -3'
Posted On 2020-07-28