Incidental Mutation 'R8539:Ndufaf5'
ID 659318
Institutional Source Beutler Lab
Gene Symbol Ndufaf5
Ensembl Gene ENSMUSG00000027384
Gene Name NADH:ubiquinone oxidoreductase complex assembly factor 5
Synonyms 2310003L22Rik
MMRRC Submission 068505-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.308) question?
Stock # R8539 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 140012569-140045609 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 140025894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 151 (T151K)
Ref Sequence ENSEMBL: ENSMUSP00000035325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044825]
AlphaFold A2APY7
Predicted Effect possibly damaging
Transcript: ENSMUST00000044825
AA Change: T151K

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000035325
Gene: ENSMUSG00000027384
AA Change: T151K

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Methyltransf_29 45 196 7.1e-8 PFAM
Pfam:Methyltransf_23 53 239 6.4e-16 PFAM
Pfam:Ubie_methyltran 78 204 3e-10 PFAM
Pfam:Methyltransf_18 89 187 1.1e-8 PFAM
Pfam:Methyltransf_31 92 243 9.6e-13 PFAM
Pfam:Methyltransf_25 93 182 1.3e-9 PFAM
Pfam:Methyltransf_12 94 184 2.4e-14 PFAM
Pfam:Methyltransf_11 94 186 6.3e-21 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (38/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c6 G A 13: 4,484,474 (GRCm39) probably null Het
Amz1 T C 5: 140,734,412 (GRCm39) L215S probably benign Het
Aplnr A G 2: 84,967,251 (GRCm39) D92G probably benign Het
Arpc5 A G 1: 152,642,552 (GRCm39) D26G probably damaging Het
Cntrob G A 11: 69,211,652 (GRCm39) R191C possibly damaging Het
Ephb4 A G 5: 137,356,117 (GRCm39) D242G probably damaging Het
Eppk1 C T 15: 75,994,319 (GRCm39) R854Q probably benign Het
Galnt13 A T 2: 54,823,584 (GRCm39) probably null Het
Hcrt T A 11: 100,652,051 (GRCm39) probably benign Het
Hnf1a A G 5: 115,108,576 (GRCm39) probably null Het
Hykk A G 9: 54,844,444 (GRCm39) S170G probably benign Het
Igf1r C A 7: 67,653,596 (GRCm39) Q45K probably benign Het
Klhl8 C T 5: 104,015,392 (GRCm39) V511I probably damaging Het
Loxl3 A T 6: 83,026,507 (GRCm39) M488L probably benign Het
Myo7a G A 7: 97,721,668 (GRCm39) P1221S probably damaging Het
Myom2 A T 8: 15,164,254 (GRCm39) I1050F probably benign Het
Ncapd3 T G 9: 26,959,520 (GRCm39) C319G probably benign Het
Notch3 A T 17: 32,375,329 (GRCm39) D364E possibly damaging Het
Nudt21 G A 8: 94,763,601 (GRCm39) probably benign Het
Or2p2 T C 13: 21,257,343 (GRCm39) I43V probably benign Het
Pkd1l3 T A 8: 110,362,919 (GRCm39) V1060E probably damaging Het
Plxnd1 G C 6: 115,939,768 (GRCm39) P1404A possibly damaging Het
Ret A G 6: 118,152,770 (GRCm39) V523A possibly damaging Het
Ror1 T C 4: 100,299,084 (GRCm39) I819T possibly damaging Het
Scn10a T A 9: 119,467,840 (GRCm39) K767* probably null Het
Sema5a T A 15: 32,618,989 (GRCm39) W506R probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Sult1b1 C A 5: 87,681,838 (GRCm39) V67F possibly damaging Het
Suz12 T A 11: 79,889,904 (GRCm39) D13E probably damaging Het
Tap1 C T 17: 34,408,409 (GRCm39) A216V probably benign Het
Tlr3 A G 8: 45,851,553 (GRCm39) L448P probably damaging Het
Tnik G A 3: 28,596,152 (GRCm39) V182M probably damaging Het
Ttn A G 2: 76,736,778 (GRCm39) F4329L probably benign Het
Usp21 C T 1: 171,111,246 (GRCm39) E396K probably damaging Het
Vmn1r122 A T 7: 20,867,281 (GRCm39) I258N possibly damaging Het
Vmn2r106 C A 17: 20,499,271 (GRCm39) R213S probably benign Het
Vmn2r111 A T 17: 22,790,274 (GRCm39) M244K probably benign Het
Zeb1 T A 18: 5,748,784 (GRCm39) V117D probably damaging Het
Other mutations in Ndufaf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02192:Ndufaf5 APN 2 140,030,663 (GRCm39) missense probably benign 0.01
R0373:Ndufaf5 UTSW 2 140,012,801 (GRCm39) missense probably benign 0.03
R1654:Ndufaf5 UTSW 2 140,019,220 (GRCm39) splice site probably null
R1710:Ndufaf5 UTSW 2 140,035,522 (GRCm39) missense possibly damaging 0.92
R1868:Ndufaf5 UTSW 2 140,023,509 (GRCm39) missense probably benign 0.00
R2226:Ndufaf5 UTSW 2 140,030,780 (GRCm39) missense probably benign 0.02
R3794:Ndufaf5 UTSW 2 140,044,843 (GRCm39) missense possibly damaging 0.89
R4440:Ndufaf5 UTSW 2 140,012,645 (GRCm39) missense probably benign 0.00
R4621:Ndufaf5 UTSW 2 140,025,845 (GRCm39) missense probably benign 0.02
R4669:Ndufaf5 UTSW 2 140,029,675 (GRCm39) missense probably benign 0.11
R5683:Ndufaf5 UTSW 2 140,044,843 (GRCm39) missense possibly damaging 0.89
R6904:Ndufaf5 UTSW 2 140,030,700 (GRCm39) nonsense probably null
R6937:Ndufaf5 UTSW 2 140,023,522 (GRCm39) missense probably damaging 1.00
R8302:Ndufaf5 UTSW 2 140,030,698 (GRCm39) missense possibly damaging 0.93
R8855:Ndufaf5 UTSW 2 140,025,840 (GRCm39) missense possibly damaging 0.95
R9328:Ndufaf5 UTSW 2 140,030,752 (GRCm39) missense possibly damaging 0.46
R9333:Ndufaf5 UTSW 2 140,035,513 (GRCm39) missense probably benign 0.29
R9731:Ndufaf5 UTSW 2 140,012,807 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- CAAAACTTCTTGAGTGCTTTCTGTG -3'
(R):5'- AATTCCAGGCCCAAGGTAGG -3'

Sequencing Primer
(F):5'- CTTCTTGAGTGCTTTCTGTGTGTTAC -3'
(R):5'- AAGTAAACTTGAGCTTGTGGC -3'
Posted On 2021-01-18