Incidental Mutation 'R5470:Ndufaf3'
ID 433474
Institutional Source Beutler Lab
Gene Symbol Ndufaf3
Ensembl Gene ENSMUSG00000070283
Gene Name NADH:ubiquinone oxidoreductase complex assembly factor 3
Synonyms 4733401H18Rik
MMRRC Submission 043031-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R5470 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 108442786-108444635 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 108443643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019183] [ENSMUST00000074208] [ENSMUST00000081111] [ENSMUST00000193421] [ENSMUST00000194381] [ENSMUST00000195249] [ENSMUST00000194904]
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 benign
Transcript: ENSMUST00000074208
SMART Domains Protein: ENSMUSP00000073832
Gene: ENSMUSG00000070283

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 noncoding transcript
Transcript: ENSMUST00000083645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193242
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194104
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193535
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194666
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 noncoding transcript
Transcript: ENSMUST00000195456
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196210
Predicted Effect probably benign
Transcript: ENSMUST00000195249
Predicted Effect probably benign
Transcript: ENSMUST00000194904
SMART Domains Protein: ENSMUSP00000142305
Gene: ENSMUSG00000062867

DomainStartEndE-ValueType
IMPDH 1 319 5e-122 SMART
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.4%
Validation Efficiency 99% (79/80)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,215,715 (GRCm39) I813F probably damaging Het
Aqr G A 2: 113,988,056 (GRCm39) L169F probably damaging Het
Atp6v1d G A 12: 78,892,058 (GRCm39) R182C probably benign Het
Bcl2l13 G T 6: 120,839,833 (GRCm39) A44S probably benign Het
Brip1 T C 11: 86,039,368 (GRCm39) K389E possibly damaging Het
C530025M09Rik G A 2: 149,673,045 (GRCm39) probably benign Het
Ccdc7b T A 8: 129,799,081 (GRCm39) S53T possibly damaging Het
Chd8 A G 14: 52,450,066 (GRCm39) F154L probably damaging Het
Cop1 A T 1: 159,094,430 (GRCm39) probably benign Het
Cyp2c39 A G 19: 39,501,974 (GRCm39) K121R possibly damaging Het
Cyp3a57 A G 5: 145,309,429 (GRCm39) M256V probably benign Het
Deup1 T C 9: 15,493,916 (GRCm39) probably null Het
Dnah10 A G 5: 124,830,232 (GRCm39) N709D probably benign Het
Dthd1 A G 5: 62,976,109 (GRCm39) Y261C probably damaging Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
En2 C T 5: 28,371,922 (GRCm39) T133M probably benign Het
Endou A G 15: 97,616,836 (GRCm39) F229S probably damaging Het
Etl4 A T 2: 20,534,791 (GRCm39) H79L probably damaging Het
Fah C T 7: 84,242,393 (GRCm39) probably null Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Fignl1 T A 11: 11,752,640 (GRCm39) E138D probably benign Het
Fndc3a A G 14: 72,812,008 (GRCm39) L311P possibly damaging Het
Gdf9 T A 11: 53,327,581 (GRCm39) V179E probably benign Het
Gm14129 G T 2: 148,769,737 (GRCm39) noncoding transcript Het
Gorab A G 1: 163,220,078 (GRCm39) I188T probably damaging Het
Gpr152 G A 19: 4,193,128 (GRCm39) C223Y probably damaging Het
Heatr5b A T 17: 79,129,008 (GRCm39) probably null Het
Hsd17b3 G T 13: 64,221,713 (GRCm39) T104N probably damaging Het
Il6ra C T 3: 89,793,302 (GRCm39) V283M probably benign Het
Klk1b16 A T 7: 43,786,755 (GRCm39) I5F probably damaging Het
Krt74 G A 15: 101,662,900 (GRCm39) noncoding transcript Het
Lrch3 T A 16: 32,818,960 (GRCm39) N650K probably damaging Het
Ly96 A T 1: 16,779,710 (GRCm39) E126D probably benign Het
Mgarp C A 3: 51,298,706 (GRCm39) R66L possibly damaging Het
Naalad2 T A 9: 18,242,147 (GRCm39) T586S probably damaging Het
Neb A G 2: 52,139,450 (GRCm39) M3055T possibly damaging Het
Neo1 G T 9: 58,838,350 (GRCm39) A478D probably damaging Het
Nmrk1 A T 19: 18,617,248 (GRCm39) probably null Het
Nsl1 T C 1: 190,812,737 (GRCm39) M184T probably benign Het
Nup133 T C 8: 124,657,705 (GRCm39) N410S probably benign Het
Opalin A G 19: 41,054,970 (GRCm39) S75P probably benign Het
Or1e17 T C 11: 73,831,696 (GRCm39) I208T probably benign Het
Or3a4 A G 11: 73,944,733 (GRCm39) I284T possibly damaging Het
Or51ag1 T G 7: 103,155,716 (GRCm39) I146L probably benign Het
Palb2 C A 7: 121,713,574 (GRCm39) C903F probably damaging Het
Pcm1 T A 8: 41,740,720 (GRCm39) W989R probably damaging Het
Pfkfb4 T A 9: 108,856,661 (GRCm39) I389N probably damaging Het
Pitrm1 T C 13: 6,603,306 (GRCm39) C119R probably benign Het
Plekha1 T C 7: 130,510,106 (GRCm39) V45A probably damaging Het
Pold2 G A 11: 5,823,048 (GRCm39) P376S probably damaging Het
Rcan2 A G 17: 44,147,174 (GRCm39) D4G probably benign Het
Slc12a1 A T 2: 125,012,634 (GRCm39) T299S probably damaging Het
Slc22a29 A T 19: 8,138,880 (GRCm39) H527Q probably benign Het
Slc22a8 G A 19: 8,585,234 (GRCm39) R261H probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slco4a1 T C 2: 180,115,907 (GRCm39) F681S probably benign Het
Sorcs2 A T 5: 36,188,527 (GRCm39) H860Q probably benign Het
Strn A T 17: 78,964,374 (GRCm39) H530Q probably benign Het
Tex14 A G 11: 87,442,430 (GRCm39) R179G probably damaging Het
Tjp3 T C 10: 81,115,381 (GRCm39) D350G probably benign Het
Tnrc6b G T 15: 80,800,912 (GRCm39) R1406L possibly damaging Het
Tnxb A G 17: 34,935,947 (GRCm39) D2666G probably null Het
Ttn A T 2: 76,560,208 (GRCm39) Y27652N probably benign Het
Utp20 T A 10: 88,653,758 (GRCm39) E287D probably benign Het
Vmn1r45 T C 6: 89,910,698 (GRCm39) I91V probably benign Het
Wdr72 A T 9: 74,046,981 (GRCm39) K76* probably null Het
Zfp689 C T 7: 127,043,425 (GRCm39) A402T probably damaging Het
Zfpm1 A G 8: 123,060,532 (GRCm39) E207G probably damaging Het
Zhx2 G T 15: 57,686,470 (GRCm39) R613L possibly 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
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
R9731:Ndufaf3 UTSW 9 108,443,158 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- CCAAACGATGAGGGTCTGATAG -3'
(R):5'- TGCAAAGCGAGTTCCCTCAG -3'

Sequencing Primer
(F):5'- TAGAGAGGTGGTCACTTAGGACCC -3'
(R):5'- GAGGCTTCACTATCTGCGGAAATC -3'
Posted On 2016-10-06