Incidental Mutation 'R9731:Ndufaf3'
ID 731412
Institutional Source Beutler Lab
Gene Symbol Ndufaf3
Ensembl Gene ENSMUSG00000070283
Gene Name NADH:ubiquinone oxidoreductase complex assembly factor 3
Synonyms 4733401H18Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R9731 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 108442786-108444635 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 108443158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 186 (*186W)
Ref Sequence ENSEMBL: ENSMUSP00000073832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019183] [ENSMUST00000074208] [ENSMUST00000081111] [ENSMUST00000193421] [ENSMUST00000194381] [ENSMUST00000194904] [ENSMUST00000195249]
AlphaFold Q9JKL4
Predicted Effect probably benign
Transcript: ENSMUST00000019183
SMART Domains Protein: ENSMUSP00000019183
Gene: ENSMUSG00000019039

DomainStartEndE-ValueType
low complexity region 288 301 N/A INTRINSIC
low complexity region 386 397 N/A INTRINSIC
DALR_1 399 538 2.09e-22 SMART
Predicted Effect probably null
Transcript: ENSMUST00000074208
AA Change: *186W
SMART Domains Protein: ENSMUSP00000073832
Gene: ENSMUSG00000070283
AA Change: *186W

DomainStartEndE-ValueType
Pfam:DUF498 61 169 9.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000081111
SMART Domains Protein: ENSMUSP00000079888
Gene: ENSMUSG00000062867

DomainStartEndE-ValueType
IMPDH 28 504 7.39e-260 SMART
CBS 117 168 9.4e-7 SMART
CBS 184 232 1.57e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193421
SMART Domains Protein: ENSMUSP00000142117
Gene: ENSMUSG00000062867

DomainStartEndE-ValueType
IMPDH 28 248 1.3e-18 SMART
CBS 92 143 4.5e-9 SMART
CBS 159 207 7.6e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194381
Predicted Effect probably benign
Transcript: ENSMUST00000194904
SMART Domains Protein: ENSMUSP00000142305
Gene: ENSMUSG00000062867

DomainStartEndE-ValueType
IMPDH 1 319 5e-122 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195249
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik T G 4: 109,362,918 (GRCm39) S134R probably damaging Het
A930033H14Rik T A 10: 69,048,679 (GRCm39) R53W unknown Het
Abca9 G T 11: 110,025,024 (GRCm39) D1006E probably benign Het
Abcc6 T A 7: 45,669,660 (GRCm39) R132* probably null Het
Ankrd40 C T 11: 94,229,250 (GRCm39) T283I probably damaging Het
Atr A G 9: 95,747,092 (GRCm39) K125E possibly damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Cep290 A T 10: 100,346,404 (GRCm39) L527F probably damaging Het
Cep295 T C 9: 15,245,262 (GRCm39) N1065D possibly damaging Het
Clip2 C T 5: 134,533,616 (GRCm39) R487Q probably benign Het
Ddx54 C T 5: 120,758,807 (GRCm39) A350V probably benign Het
Defb23 C T 2: 152,301,333 (GRCm39) V80I probably benign Het
Dennd5b G A 6: 148,970,138 (GRCm39) T127I probably damaging Het
Dnah6 G T 6: 73,168,589 (GRCm39) Q445K probably benign Het
Dync2h1 T C 9: 7,141,166 (GRCm39) H1287R probably benign Het
Enpp7 G A 11: 118,879,151 (GRCm39) G37R probably damaging Het
Exoc2 T C 13: 31,061,233 (GRCm39) T554A probably benign Het
Fgf8 T C 19: 45,730,846 (GRCm39) N60D probably benign Het
Gdi2 A G 13: 3,588,299 (GRCm39) M1V probably null Het
Glra3 G T 8: 56,542,058 (GRCm39) R267L probably damaging Het
Gm21886 ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG 18: 80,133,040 (GRCm39) probably benign Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Greb1 C T 12: 16,738,598 (GRCm39) R1455H probably damaging Het
Grk6 C A 13: 55,607,640 (GRCm39) P575T possibly damaging Het
Hpgd A T 8: 56,751,391 (GRCm39) D73V probably benign Het
Hpse G A 5: 100,842,022 (GRCm39) H288Y probably damaging Het
Hpse2 G A 19: 42,794,826 (GRCm39) R506* probably null Het
Ing1 C A 8: 11,611,649 (GRCm39) T123N probably benign Het
Kdm2b T C 5: 123,125,823 (GRCm39) D27G probably benign Het
Kmt2c A T 5: 25,577,956 (GRCm39) D773E probably benign Het
Lrrc7 T C 3: 157,880,888 (GRCm39) D516G probably benign Het
Lrsam1 A G 2: 32,835,452 (GRCm39) probably null Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Meak7 C A 8: 120,498,010 (GRCm39) A165S probably benign Het
Ndufaf5 C T 2: 140,012,807 (GRCm39) A59V possibly damaging Het
Nphp3 T C 9: 103,886,369 (GRCm39) L281S probably damaging Het
Or10a4 T G 7: 106,696,786 (GRCm39) V38G probably benign Het
Or4c12 T A 2: 89,774,316 (GRCm39) I48F possibly damaging Het
Or8b37 A T 9: 37,958,892 (GRCm39) I125F probably damaging Het
Otogl G T 10: 107,735,328 (GRCm39) T152K probably damaging Het
Oxgr1 C T 14: 120,260,094 (GRCm39) V38I probably benign Het
Polr2a G A 11: 69,638,043 (GRCm39) T142M possibly damaging Het
Pou6f1 C T 15: 100,476,206 (GRCm39) R560Q possibly damaging Het
Ptgr3 T G 18: 84,113,128 (GRCm39) V268G probably damaging Het
Rbm33 A G 5: 28,544,242 (GRCm39) E166G probably damaging Het
Rgs14 T A 13: 55,528,784 (GRCm39) Y308* probably null Het
Rpl10a T C 17: 28,547,594 (GRCm39) probably benign Het
Rras2 A C 7: 113,659,593 (GRCm39) I57S probably damaging Het
Scn1b C T 7: 30,824,596 (GRCm39) V31M probably damaging Het
Sema6d G A 2: 124,506,117 (GRCm39) A642T probably damaging Het
Sis T A 3: 72,835,543 (GRCm39) T940S probably benign Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc22a27 G A 19: 7,904,126 (GRCm39) Q4* probably null Het
Slc44a2 T A 9: 21,263,770 (GRCm39) I646N possibly damaging Het
Sprtn C A 8: 125,629,704 (GRCm39) Y332* probably null Het
Srpk1 A G 17: 28,825,297 (GRCm39) I125T probably damaging Het
Sv2b G A 7: 74,786,068 (GRCm39) H451Y probably benign Het
Tec G A 5: 72,939,439 (GRCm39) T192M probably benign Het
Tlr3 G A 8: 45,850,944 (GRCm39) T127M probably damaging Het
Trim25 C A 11: 88,906,391 (GRCm39) P405T probably benign Het
Trpm4 T C 7: 44,958,054 (GRCm39) D952G probably damaging Het
Tsc1 A G 2: 28,566,486 (GRCm39) D635G probably benign Het
Ttc7b T C 12: 100,461,683 (GRCm39) E98G possibly damaging Het
Ubr2 A G 17: 47,274,071 (GRCm39) probably null Het
Usp19 T A 9: 108,376,885 (GRCm39) S1153T probably damaging Het
Vmn2r63 A T 7: 42,553,361 (GRCm39) L632M probably benign Het
Vps13c C T 9: 67,826,526 (GRCm39) T1389I probably benign Het
Wasf1 T A 10: 40,806,731 (GRCm39) Y125N probably damaging Het
Other mutations in Ndufaf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Ndufaf3 APN 9 108,444,068 (GRCm39) missense probably benign 0.27
R0594:Ndufaf3 UTSW 9 108,444,122 (GRCm39) missense probably benign 0.01
R1295:Ndufaf3 UTSW 9 108,443,892 (GRCm39) missense probably damaging 1.00
R1782:Ndufaf3 UTSW 9 108,443,210 (GRCm39) missense probably damaging 1.00
R2125:Ndufaf3 UTSW 9 108,443,936 (GRCm39) missense probably benign 0.16
R3803:Ndufaf3 UTSW 9 108,444,092 (GRCm39) missense probably benign 0.00
R5470:Ndufaf3 UTSW 9 108,443,643 (GRCm39) unclassified probably benign
R6601:Ndufaf3 UTSW 9 108,443,416 (GRCm39) missense probably benign 0.01
R7396:Ndufaf3 UTSW 9 108,443,802 (GRCm39) missense probably damaging 0.96
R7454:Ndufaf3 UTSW 9 108,444,125 (GRCm39) start codon destroyed probably null 0.69
R8298:Ndufaf3 UTSW 9 108,444,120 (GRCm39) missense probably benign
R8425:Ndufaf3 UTSW 9 108,444,182 (GRCm39) unclassified probably benign
R9348:Ndufaf3 UTSW 9 108,443,357 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AATCTGCCTCCTAGCCTTTAAGG -3'
(R):5'- ACGTGACAAGTCCACCTAGTTC -3'

Sequencing Primer
(F):5'- GGACCAGGGAATATCCTACATTGTC -3'
(R):5'- GTTCAAGCCTACTCAGCCCAGG -3'
Posted On 2022-11-14