Incidental Mutation 'R7997:Ndufaf4'
ID 616122
Institutional Source Beutler Lab
Gene Symbol Ndufaf4
Ensembl Gene ENSMUSG00000028261
Gene Name NADH:ubiquinone oxidoreductase complex assembly factor 4
Synonyms 3000003G13Rik, 1110007M04Rik
MMRRC Submission 046037-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R7997 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 24898083-24905001 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24901919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 156 (T156A)
Ref Sequence ENSEMBL: ENSMUSP00000029925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029925] [ENSMUST00000151249]
AlphaFold Q9D1H6
Predicted Effect probably benign
Transcript: ENSMUST00000029925
AA Change: T156A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000029925
Gene: ENSMUSG00000028261
AA Change: T156A

DomainStartEndE-ValueType
Pfam:UPF0240 1 169 6.4e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151249
SMART Domains Protein: ENSMUSP00000117141
Gene: ENSMUSG00000028261

DomainStartEndE-ValueType
Pfam:UPF0240 1 116 2.4e-38 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.] NADH:ubiquinone oxidoreductase (complex I) 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. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik G A 14: 41,766,209 (GRCm39) probably benign Het
Abra A C 15: 41,729,593 (GRCm39) M269R probably damaging Het
Atp6v0e2 A G 6: 48,514,718 (GRCm39) I12V probably benign Het
Bicral T A 17: 47,112,534 (GRCm39) I889F probably benign Het
Cabin1 A G 10: 75,569,609 (GRCm39) V826A probably benign Het
Casq2 A T 3: 101,994,158 (GRCm39) K68N probably damaging Het
Cdh23 C A 10: 60,432,518 (GRCm39) Q135H possibly damaging Het
Chn2 A T 6: 54,267,270 (GRCm39) H253L probably damaging Het
Dnajc22 A G 15: 98,999,514 (GRCm39) E233G probably damaging Het
Fbxo6 A G 4: 148,231,852 (GRCm39) S96P possibly damaging Het
Gimap6 G T 6: 48,679,249 (GRCm39) N262K probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Grid2 C A 6: 64,297,120 (GRCm39) H494Q possibly damaging Het
Hmgcl T A 4: 135,687,320 (GRCm39) Y198* probably null Het
Hmgxb4 A T 8: 75,727,956 (GRCm39) Y313F probably damaging Het
Hr G A 14: 70,801,043 (GRCm39) W676* probably null Het
Insc A G 7: 114,444,372 (GRCm39) D453G probably damaging Het
Iqub T C 6: 24,501,413 (GRCm39) N179S possibly damaging Het
Kdm3b T A 18: 34,941,336 (GRCm39) S276T probably benign Het
Kmt2a C A 9: 44,745,220 (GRCm39) K1597N unknown Het
Kntc1 T C 5: 123,916,117 (GRCm39) V682A probably damaging Het
Mcm9 T A 10: 53,473,502 (GRCm39) probably benign Het
Med30 T C 15: 52,593,467 (GRCm39) L149P probably damaging Het
Mmd2 T A 5: 142,560,615 (GRCm39) H102L possibly damaging Het
Mtres1 T C 10: 43,401,356 (GRCm39) T198A probably benign Het
Mybph G A 1: 134,122,405 (GRCm39) R150H probably damaging Het
Or2g1 T A 17: 38,107,053 (GRCm39) C239* probably null Het
Pecr T A 1: 72,315,475 (GRCm39) K92* probably null Het
Pithd1 T C 4: 135,703,723 (GRCm39) T207A probably benign Het
Prdm10 T A 9: 31,264,721 (GRCm39) C719S probably damaging Het
Rasef C A 4: 73,658,799 (GRCm39) W316L possibly damaging Het
Robo1 T C 16: 72,701,581 (GRCm39) V149A probably damaging Het
Ryr1 A T 7: 28,702,968 (GRCm39) V5034D unknown Het
Slc26a10 A G 10: 127,009,178 (GRCm39) V661A possibly damaging Het
Slc30a8 T G 15: 52,189,081 (GRCm39) I232S possibly damaging Het
Smg1 A G 7: 117,772,364 (GRCm39) F1464L unknown Het
Smg1 A C 7: 117,772,365 (GRCm39) H1463Q unknown Het
Spata1 G A 3: 146,182,035 (GRCm39) A245V probably benign Het
St8sia1 C T 6: 142,909,376 (GRCm39) C40Y probably damaging Het
Strn T C 17: 78,991,672 (GRCm39) T216A probably benign Het
Tecpr2 G A 12: 110,900,037 (GRCm39) E802K probably benign Het
Tenm4 A G 7: 96,523,512 (GRCm39) I1685V probably benign Het
Tyw5 T C 1: 57,427,683 (GRCm39) D307G probably benign Het
Usp17le A T 7: 104,418,046 (GRCm39) D365E possibly damaging Het
Vmn1r13 T G 6: 57,187,329 (GRCm39) S163A possibly damaging Het
Vmn1r75 A T 7: 11,614,600 (GRCm39) T111S probably damaging Het
Wdr95 G T 5: 149,502,622 (GRCm39) probably null Het
Zfp292 G A 4: 34,808,688 (GRCm39) P1457L probably damaging Het
Zfp606 T A 7: 12,223,519 (GRCm39) V10E probably damaging Het
Zfp606 T C 7: 12,228,134 (GRCm39) S752P possibly damaging Het
Zscan29 T G 2: 120,991,221 (GRCm39) S856R probably benign Het
Other mutations in Ndufaf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03001:Ndufaf4 APN 4 24,901,747 (GRCm39) missense probably benign 0.44
R2128:Ndufaf4 UTSW 4 24,898,608 (GRCm39) missense probably damaging 1.00
R2129:Ndufaf4 UTSW 4 24,898,608 (GRCm39) missense probably damaging 1.00
R5666:Ndufaf4 UTSW 4 24,898,636 (GRCm39) missense probably damaging 1.00
R5670:Ndufaf4 UTSW 4 24,898,636 (GRCm39) missense probably damaging 1.00
R6021:Ndufaf4 UTSW 4 24,901,760 (GRCm39) missense probably benign 0.02
R7393:Ndufaf4 UTSW 4 24,903,177 (GRCm39) missense probably benign 0.00
R7519:Ndufaf4 UTSW 4 24,901,847 (GRCm39) missense probably damaging 0.99
R7586:Ndufaf4 UTSW 4 24,901,829 (GRCm39) missense probably damaging 0.98
R8201:Ndufaf4 UTSW 4 24,898,197 (GRCm39) missense possibly damaging 0.94
R8245:Ndufaf4 UTSW 4 24,898,648 (GRCm39) missense probably benign 0.18
R9733:Ndufaf4 UTSW 4 24,903,177 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCAAAGGAATTCAGACTGCCG -3'
(R):5'- TTATATGAACAATCCTGAGGAGGTC -3'

Sequencing Primer
(F):5'- AGGCATTGACCCTTCTCA -3'
(R):5'- TCCTGAGGAGGTCAAAGAGCTTTC -3'
Posted On 2020-01-23