Incidental Mutation 'R6021:Ndufaf4'
ID 478925
Institutional Source Beutler Lab
Gene Symbol Ndufaf4
Ensembl Gene ENSMUSG00000028261
Gene Name NADH:ubiquinone oxidoreductase complex assembly factor 4
Synonyms 3000003G13Rik, 1110007M04Rik
MMRRC Submission 044194-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R6021 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 24898083-24905001 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24901760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 100 (N100D)
Ref Sequence ENSEMBL: ENSMUSP00000117141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029925] [ENSMUST00000151249]
AlphaFold Q9D1H6
Predicted Effect probably benign
Transcript: ENSMUST00000029925
AA Change: N103D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029925
Gene: ENSMUSG00000028261
AA Change: N103D

DomainStartEndE-ValueType
Pfam:UPF0240 1 169 6.4e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146721
Predicted Effect probably benign
Transcript: ENSMUST00000151249
AA Change: N100D

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000117141
Gene: ENSMUSG00000028261
AA Change: N100D

DomainStartEndE-ValueType
Pfam:UPF0240 1 116 2.4e-38 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.2%
Validation Efficiency 94% (61/65)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A G 4: 123,754,509 (GRCm39) D141G possibly damaging Het
A1bg T C 15: 60,791,713 (GRCm39) E241G possibly damaging Het
Abca13 G A 11: 9,240,465 (GRCm39) W776* probably null Het
Akr1b10 T A 6: 34,369,309 (GRCm39) probably null Het
Aopep A G 13: 63,208,896 (GRCm39) T338A probably damaging Het
Atf7 T C 15: 102,465,908 (GRCm39) D84G probably benign Het
AW209491 C T 13: 14,812,365 (GRCm39) A406V probably benign Het
Azi2 T A 9: 117,876,487 (GRCm39) M1K probably null Het
Boc T A 16: 44,309,017 (GRCm39) M832L probably benign Het
Brix1 C T 15: 10,476,675 (GRCm39) R267H probably benign Het
Cacna1s T C 1: 136,034,225 (GRCm39) L1050P probably benign Het
Celsr2 G T 3: 108,308,561 (GRCm39) P1789T probably benign Het
Crebbp G A 16: 3,903,282 (GRCm39) R1986C probably damaging Het
Crtam T A 9: 40,901,477 (GRCm39) I150F probably damaging Het
Crybg1 G T 10: 43,873,534 (GRCm39) S1191R probably damaging Het
D630045J12Rik T C 6: 38,167,552 (GRCm39) T1017A probably benign Het
Dnah10 A G 5: 124,814,048 (GRCm39) E396G probably damaging Het
Enpp5 A T 17: 44,396,210 (GRCm39) Y374F probably benign Het
Fzd4 G A 7: 89,056,942 (GRCm39) A330T probably benign Het
Gabra5 A G 7: 57,157,740 (GRCm39) S25P probably benign Het
Get1 T C 16: 95,946,878 (GRCm39) probably benign Het
Ggps1 T C 13: 14,228,589 (GRCm39) Y198C probably damaging Het
Gm3173 A C 14: 15,728,458 (GRCm39) D39A probably damaging Het
Grm2 T C 9: 106,527,999 (GRCm39) D295G probably damaging Het
H2-T13 T G 17: 36,392,166 (GRCm39) E182A probably damaging Het
Igfbp5 A G 1: 72,902,363 (GRCm39) M208T possibly damaging Het
Ildr2 T A 1: 166,131,173 (GRCm39) M343K possibly damaging Het
Kif19b A T 5: 140,455,434 (GRCm39) M347L probably damaging Het
Loxhd1 A T 18: 77,499,946 (GRCm39) D120V probably damaging Het
Lrp1 T C 10: 127,413,883 (GRCm39) D1175G probably damaging Het
Lrp1b C A 2: 41,234,439 (GRCm39) D1171Y probably benign Het
Lrrc9 A T 12: 72,516,005 (GRCm39) I563F probably damaging Het
Ltbp3 A T 19: 5,803,708 (GRCm39) T798S probably benign Het
Msantd4 T A 9: 4,384,063 (GRCm39) V128E probably benign Het
Mtf2 A G 5: 108,229,003 (GRCm39) I69V possibly damaging Het
Myh10 T A 11: 68,699,688 (GRCm39) S1712T possibly damaging Het
Mylk3 A G 8: 86,091,442 (GRCm39) V121A possibly damaging Het
Notch2 T C 3: 98,029,288 (GRCm39) F1017S probably damaging Het
Or4a27 G T 2: 88,559,294 (GRCm39) Y216* probably null Het
Or4a80 A C 2: 89,582,465 (GRCm39) S236A probably benign Het
Or4c108 G T 2: 88,803,376 (GRCm39) Y286* probably null Het
P2ry2 T C 7: 100,647,607 (GRCm39) T233A probably benign Het
Paip1 T "TTA,TT" 13: 119,593,671 (GRCm39) probably null Het
Pak1 T C 7: 97,503,670 (GRCm39) S2P probably damaging Het
Pde8b A T 13: 95,162,670 (GRCm39) D817E possibly damaging Het
Pfdn2 C A 1: 171,173,338 (GRCm39) probably benign Het
Pramel28 A T 4: 143,692,336 (GRCm39) C222S probably benign Het
Raver1 A G 9: 20,987,918 (GRCm39) L606P probably damaging Het
Robo3 C T 9: 37,333,829 (GRCm39) W668* probably null Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Rxfp2 A G 5: 149,987,202 (GRCm39) N337S possibly damaging Het
Samhd1 T C 2: 156,962,474 (GRCm39) probably null Het
Sardh A G 2: 27,079,655 (GRCm39) V879A probably benign Het
Slc4a4 A T 5: 89,188,261 (GRCm39) probably benign Het
Slc6a11 T C 6: 114,207,012 (GRCm39) L332P probably damaging Het
Tas2r135 T C 6: 42,383,321 (GRCm39) Y287H probably damaging Het
Tlr4 T A 4: 66,759,103 (GRCm39) I632N probably damaging Het
Tmem145 C T 7: 25,008,270 (GRCm39) probably null Het
Trmt61a C A 12: 111,647,411 (GRCm39) F169L probably damaging Het
Trp53tg5 T A 2: 164,313,391 (GRCm39) I95L probably benign Het
Vmn1r85 T C 7: 12,818,616 (GRCm39) E176G probably benign Het
Vmn2r75 T C 7: 85,820,820 (GRCm39) D38G probably benign Het
Vmn2r99 A G 17: 19,598,210 (GRCm39) Y78C probably damaging Het
Zfp964 G T 8: 70,115,742 (GRCm39) S114I unknown 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
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
R7997:Ndufaf4 UTSW 4 24,901,919 (GRCm39) missense probably benign 0.01
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'- CATGGTGTGCATGCAGTTGC -3'
(R):5'- CTTGGGAACACATACAGGGG -3'

Sequencing Primer
(F):5'- GTGGTACAGTGCAAAATCAAAGTTTG -3'
(R):5'- CACATACAGGGGAAGTTGTTTC -3'
Posted On 2017-06-26