Incidental Mutation 'R1710:Ndufaf5'
ID 190398
Institutional Source Beutler Lab
Gene Symbol Ndufaf5
Ensembl Gene ENSMUSG00000027384
Gene Name NADH:ubiquinone oxidoreductase complex assembly factor 5
Synonyms 2310003L22Rik
MMRRC Submission 039743-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.308) question?
Stock # R1710 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 140012569-140045609 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140035522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 246 (V246A)
Ref Sequence ENSEMBL: ENSMUSP00000035325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044825]
AlphaFold A2APY7
Predicted Effect possibly damaging
Transcript: ENSMUST00000044825
AA Change: V246A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035325
Gene: ENSMUSG00000027384
AA Change: V246A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125913
Meta Mutation Damage Score 0.1943 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 98% (117/120)
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: 114 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik A T 18: 70,601,134 (GRCm39) S249R possibly damaging Het
Acadvl T A 11: 69,901,181 (GRCm39) I638F probably damaging Het
Acnat2 T A 4: 49,380,587 (GRCm39) T264S probably benign Het
Acrv1 C T 9: 36,605,551 (GRCm39) Q33* probably null Het
Actrt3 T A 3: 30,653,901 (GRCm39) N33I probably damaging Het
Alyref2 T C 1: 171,331,168 (GRCm39) probably benign Het
Ank2 C A 3: 126,726,709 (GRCm39) E3712* probably null Het
Ano7 C A 1: 93,313,346 (GRCm39) H161Q probably benign Het
Arhgap10 C A 8: 78,085,216 (GRCm39) E451* probably null Het
Arhgap29 T A 3: 121,801,729 (GRCm39) Y748N probably damaging Het
Arhgap45 C T 10: 79,853,932 (GRCm39) Q149* probably null Het
Asap2 C T 12: 21,274,393 (GRCm39) H371Y probably damaging Het
Atp6v1b1 T C 6: 83,735,372 (GRCm39) I480T probably benign Het
BC034090 T C 1: 155,101,610 (GRCm39) D218G possibly damaging Het
Brdt A T 5: 107,491,450 (GRCm39) D74V probably damaging Het
C4b A G 17: 34,962,638 (GRCm39) probably benign Het
Card11 T A 5: 140,888,660 (GRCm39) K233* probably null Het
Catip T G 1: 74,401,929 (GRCm39) F35V possibly damaging Het
Ccdc13 C T 9: 121,648,647 (GRCm39) G247R probably damaging Het
Cep97 T A 16: 55,735,385 (GRCm39) D471V probably damaging Het
Col17a1 A T 19: 47,659,370 (GRCm39) L403Q probably damaging Het
Crbn A G 6: 106,767,906 (GRCm39) S194P possibly damaging Het
Degs1l A G 1: 180,878,884 (GRCm39) M1V probably null Het
Dennd10 A G 19: 60,806,021 (GRCm39) Y102C probably damaging Het
Dhx58 T A 11: 100,594,400 (GRCm39) H97L probably benign Het
Dnah8 T C 17: 31,073,914 (GRCm39) I4528T probably damaging Het
Dpyd A G 3: 118,404,092 (GRCm39) probably null Het
Entpd1 A T 19: 40,714,680 (GRCm39) Q263L probably benign Het
Entrep1 A T 19: 23,957,059 (GRCm39) I317N probably damaging Het
Esyt3 T C 9: 99,218,244 (GRCm39) I130M probably benign Het
Etv1 T C 12: 38,902,261 (GRCm39) F264S probably benign Het
Fat1 T C 8: 45,463,519 (GRCm39) S1354P probably benign Het
Fat4 C A 3: 39,005,304 (GRCm39) T1901N probably damaging Het
Fbxw13 C T 9: 109,010,586 (GRCm39) V351I probably damaging Het
Fmo3 A G 1: 162,795,356 (GRCm39) F160L possibly damaging Het
Fyb2 T A 4: 104,861,113 (GRCm39) D592E probably damaging Het
Gjb4 T C 4: 127,245,663 (GRCm39) M93V possibly damaging Het
Gm5089 C A 14: 122,673,566 (GRCm39) G52* probably null Het
Gm6401 G T 14: 41,788,840 (GRCm39) N76K probably benign Het
Gm6871 A G 7: 41,195,901 (GRCm39) S279P probably damaging Het
Gtf2ird2 T G 5: 134,240,081 (GRCm39) V301G probably benign Het
H2bw2 A C X: 135,828,216 (GRCm39) D35A unknown Het
Hfm1 A G 5: 107,028,380 (GRCm39) F817L probably damaging Het
Hfm1 T C 5: 107,043,869 (GRCm39) E589G probably damaging Het
Hivep2 A T 10: 14,005,249 (GRCm39) K616* probably null Het
Hmcn1 A T 1: 150,551,735 (GRCm39) I2623N probably damaging Het
Igf2bp3 G T 6: 49,082,565 (GRCm39) A339E probably damaging Het
Insyn2b T A 11: 34,354,263 (GRCm39) probably null Het
Irx4 T C 13: 73,415,757 (GRCm39) I182T possibly damaging Het
Jcad T C 18: 4,674,511 (GRCm39) S758P probably damaging Het
Klhdc4 A T 8: 122,526,226 (GRCm39) Y304* probably null Het
Lama1 A G 17: 68,060,786 (GRCm39) I705V probably benign Het
Mbd5 A G 2: 49,147,044 (GRCm39) N418S probably benign Het
Mmp21 C T 7: 133,279,014 (GRCm39) V279I probably damaging Het
Morc4 A C X: 138,755,279 (GRCm39) C272W probably damaging Het
Mrm1 A T 11: 84,709,518 (GRCm39) C180S probably damaging Het
Ncor1 T C 11: 62,313,831 (GRCm39) D103G probably damaging Het
Ndrg4 A G 8: 96,437,314 (GRCm39) D251G probably damaging Het
Noa1 T C 5: 77,457,572 (GRCm39) E111G possibly damaging Het
Nod1 C A 6: 54,921,044 (GRCm39) V425F probably damaging Het
Nos1 A T 5: 118,033,984 (GRCm39) I369F probably damaging Het
Nsun5 C T 5: 135,400,170 (GRCm39) H98Y probably damaging Het
Optn G A 2: 5,057,941 (GRCm39) T76I possibly damaging Het
Or14c39 G A 7: 86,344,318 (GRCm39) R218H probably benign Het
Or4k15c C G 14: 50,321,827 (GRCm39) V104L probably benign Het
Or5k1b A G 16: 58,581,504 (GRCm39) F12L probably benign Het
Or8d1b A G 9: 38,887,202 (GRCm39) I77V probably damaging Het
Or8g28 T C 9: 39,169,867 (GRCm39) I37V probably benign Het
Or9g19 C T 2: 85,600,199 (GRCm39) T18I probably benign Het
Oscar C T 7: 3,614,855 (GRCm39) W22* probably null Het
Palmd T A 3: 116,717,306 (GRCm39) Y397F probably damaging Het
Plk1 A G 7: 121,768,121 (GRCm39) D447G probably damaging Het
Plscr5 T A 9: 92,087,581 (GRCm39) N183K probably damaging Het
Polk T G 13: 96,625,712 (GRCm39) D364A probably damaging Het
Polr3d T C 14: 70,680,450 (GRCm39) T36A probably benign Het
Ppp1r10 A T 17: 36,237,428 (GRCm39) R199S probably damaging Het
Prkcz C T 4: 155,346,969 (GRCm39) D388N probably damaging Het
Prrc2b T C 2: 32,102,234 (GRCm39) L769P probably damaging Het
Psg26 A G 7: 18,213,966 (GRCm39) V232A probably damaging Het
Pth2r T C 1: 65,375,997 (GRCm39) V85A possibly damaging Het
Rbpms2 T C 9: 65,566,494 (GRCm39) probably benign Het
Reps1 A T 10: 17,994,698 (GRCm39) D514V possibly damaging Het
Riok3 G T 18: 12,276,018 (GRCm39) R238L probably benign Het
Rnf19a T C 15: 36,244,353 (GRCm39) Q569R probably damaging Het
Rorb G A 19: 18,937,865 (GRCm39) T267I probably damaging Het
Rrm2b A T 15: 37,929,340 (GRCm39) M70K probably damaging Het
Rsf1 A T 7: 97,311,556 (GRCm39) E762V possibly damaging Het
S100a2 G A 3: 90,498,699 (GRCm39) V67I probably benign Het
Skp1 T A 11: 52,133,442 (GRCm39) D42E probably benign Het
Slc22a4 A T 11: 53,918,801 (GRCm39) M1K probably null Het
Slc2a9 T A 5: 38,539,387 (GRCm39) Q371L probably damaging Het
Slc4a9 A G 18: 36,665,075 (GRCm39) T475A probably benign Het
Slc8b1 A G 5: 120,657,717 (GRCm39) N60S probably damaging Het
Slx4 A C 16: 3,817,022 (GRCm39) D66E probably benign Het
Smg8 A T 11: 86,977,113 (GRCm39) I156N probably damaging Het
Snx25 A T 8: 46,569,244 (GRCm39) C218S possibly damaging Het
Sulf2 T C 2: 165,920,992 (GRCm39) I784V probably benign Het
Tatdn2 G T 6: 113,674,888 (GRCm39) R72L possibly damaging Het
Tbc1d8 T C 1: 39,445,918 (GRCm39) D91G possibly damaging Het
Tifab C A 13: 56,324,433 (GRCm39) R3S probably benign Het
Tm4sf1 A T 3: 57,200,304 (GRCm39) S104T probably damaging Het
Tmem132e T A 11: 82,334,343 (GRCm39) I618N probably damaging Het
Ttc7b A T 12: 100,369,667 (GRCm39) D367E probably damaging Het
Txlnb A G 10: 17,719,203 (GRCm39) D678G possibly damaging Het
Vgll4 A G 6: 114,934,895 (GRCm39) probably null Het
Vmn2r124 A T 17: 18,282,187 (GRCm39) probably benign Het
Vmn2r2 T C 3: 64,024,820 (GRCm39) D587G probably benign Het
Vmn2r84 G A 10: 130,226,968 (GRCm39) A290V probably benign Het
Vps13c T A 9: 67,818,811 (GRCm39) S1077R probably benign Het
Vsig10 C T 5: 117,489,719 (GRCm39) A495V probably benign Het
Vwa3a A T 7: 120,403,254 (GRCm39) probably null Het
Zfhx2 C A 14: 55,303,455 (GRCm39) A1510S possibly damaging Het
Zfp142 T A 1: 74,611,389 (GRCm39) D601V probably damaging Het
Zfp62 T C 11: 49,108,510 (GRCm39) I867T probably benign 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
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
R8539:Ndufaf5 UTSW 2 140,025,894 (GRCm39) missense possibly damaging 0.69
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'- AGCAAGACAGTTCTTGGGGTTGG -3'
(R):5'- GTTGTGCTATCTGCCTGATGTCTACC -3'

Sequencing Primer
(F):5'- AGCTCAGTGGTGGGCAC -3'
(R):5'- CTCCTTCTACATTTTACACCATAAGC -3'
Posted On 2014-05-14