Incidental Mutation 'R8298:Ndufaf3'
ID 639087
Institutional Source Beutler Lab
Gene Symbol Ndufaf3
Ensembl Gene ENSMUSG00000070283
Gene Name NADH:ubiquinone oxidoreductase complex assembly factor 3
Synonyms 4733401H18Rik
MMRRC Submission 067786-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R8298 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 108442786-108444635 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108444120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 3 (T3A)
Ref Sequence ENSEMBL: ENSMUSP00000073832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019183] [ENSMUST00000074208] [ENSMUST00000081111] [ENSMUST00000193421] [ENSMUST00000193427] [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 benign
Transcript: ENSMUST00000074208
AA Change: T3A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073832
Gene: ENSMUSG00000070283
AA Change: T3A

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: ENSMUST00000193427
SMART Domains Protein: ENSMUSP00000141748
Gene: ENSMUSG00000019039

DomainStartEndE-ValueType
low complexity region 55 66 N/A INTRINSIC
DALR_1 68 171 1.3e-7 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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (62/64)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik A G 16: 64,586,695 (GRCm39) L343P probably benign Het
Aak1 T A 6: 86,902,061 (GRCm39) F77I possibly damaging Het
Abca3 T C 17: 24,604,375 (GRCm39) L582P probably damaging Het
Acat1 A T 9: 53,505,724 (GRCm39) S136R probably damaging Het
Adamts2 T C 11: 50,667,958 (GRCm39) F507L possibly damaging Het
Adcy3 G A 12: 4,256,482 (GRCm39) A763T probably damaging Het
Adgrv1 A T 13: 81,534,033 (GRCm39) C5849* probably null Het
Adrb2 A T 18: 62,311,753 (GRCm39) N357K probably benign Het
Ak9 A G 10: 41,265,054 (GRCm39) E404G Het
Akap13 T C 7: 75,397,552 (GRCm39) L2576P probably damaging Het
Armcx5 AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA X: 134,646,453 (GRCm39) probably benign Het
Arv1 A G 8: 125,455,111 (GRCm39) Y108C probably damaging Het
Casp8ap2 T A 4: 32,640,429 (GRCm39) H494Q probably benign Het
Ccdc88b A G 19: 6,827,649 (GRCm39) L951P probably damaging Het
D830039M14Rik A T 10: 61,311,362 (GRCm39) M160K noncoding transcript Het
Dbf4 A G 5: 8,462,115 (GRCm39) probably benign Het
Dennd4a A G 9: 64,814,157 (GRCm39) D1458G probably benign Het
Dock10 T C 1: 80,514,654 (GRCm39) K1422R probably benign Het
Dyrk3 C T 1: 131,057,112 (GRCm39) D354N probably damaging Het
Epha3 T A 16: 63,386,961 (GRCm39) I892F probably benign Het
Evi5 G A 5: 107,964,731 (GRCm39) S317L possibly damaging Het
Evl C T 12: 108,619,232 (GRCm39) P76S probably benign Het
Fyb2 A C 4: 104,806,028 (GRCm39) E369D probably damaging Het
Gm10000 T C 12: 104,442,436 (GRCm39) probably benign Het
Gm1979 T C 5: 26,206,148 (GRCm39) N190S probably damaging Het
Gm3633 T C 14: 42,462,675 (GRCm39) E72G Het
Gm5414 T C 15: 101,532,605 (GRCm39) Y506C unknown Het
Gm572 T A 4: 148,742,550 (GRCm39) H96Q possibly damaging Het
Gml T C 15: 74,685,541 (GRCm39) E148G probably damaging Het
Got1l1 T C 8: 27,688,586 (GRCm39) D255G probably benign Het
Hydin A G 8: 111,327,015 (GRCm39) N4785D probably damaging Het
Kcnk12 A T 17: 88,104,713 (GRCm39) F57Y probably damaging Het
Klhdc9 C A 1: 171,186,429 (GRCm39) G336C probably damaging Het
Kprp T C 3: 92,732,607 (GRCm39) T148A probably damaging Het
Lama3 G A 18: 12,658,910 (GRCm39) R2022Q probably benign Het
Lelp1 A T 3: 92,042,927 (GRCm39) S41T unknown Het
Lnx2 A T 5: 146,961,327 (GRCm39) M535K probably benign Het
Mmp9 T A 2: 164,792,279 (GRCm39) F294L probably null Het
Myo7a T C 7: 97,747,541 (GRCm39) Y97C probably damaging Het
Nav2 T C 7: 49,204,009 (GRCm39) probably null Het
Nrxn1 A G 17: 91,011,597 (GRCm39) I344T probably damaging Het
Or1j1 T C 2: 36,703,038 (GRCm39) E22G probably benign Het
Or5ap2 T C 2: 85,680,533 (GRCm39) S246P probably damaging Het
Or5w14 A T 2: 87,541,376 (GRCm39) S291R probably damaging Het
Pccb T C 9: 100,867,885 (GRCm39) D384G probably damaging Het
Plekhg3 C T 12: 76,623,852 (GRCm39) H1032Y probably damaging Het
Ppfia3 A G 7: 45,009,618 (GRCm39) S125P probably damaging Het
Prl7a2 T C 13: 27,844,994 (GRCm39) M131V probably benign Het
Prmt3 A G 7: 49,507,186 (GRCm39) T517A probably benign Het
Prpf4b A G 13: 35,072,166 (GRCm39) H491R unknown Het
Rhot1 T A 11: 80,137,502 (GRCm39) C335S probably benign Het
Robo1 C T 16: 72,769,020 (GRCm39) probably benign Het
Samd3 A T 10: 26,121,468 (GRCm39) D195V probably damaging Het
Sh3gl2 T A 4: 85,297,647 (GRCm39) D208E possibly damaging Het
Spta1 A T 1: 174,074,953 (GRCm39) D2393V probably damaging Het
Tgs1 T C 4: 3,605,840 (GRCm39) L785P probably damaging Het
Tmem25 C T 9: 44,710,116 (GRCm39) probably benign Het
Trappc10 A G 10: 78,038,753 (GRCm39) Y780H probably damaging Het
Ttn C A 2: 76,557,511 (GRCm39) W29861L probably damaging Het
Usp1 T A 4: 98,819,136 (GRCm39) D199E probably damaging Het
Vmn2r40 A G 7: 8,911,148 (GRCm39) I715T Het
Zfp169 G A 13: 48,651,853 (GRCm39) Q68* probably null Het
Zfp418 T A 7: 7,185,814 (GRCm39) Y592* probably null Het
Zfp712 A G 13: 67,188,976 (GRCm39) V517A probably benign Het
Zfp934 A T 13: 62,666,295 (GRCm39) H146Q Het
Zgrf1 T C 3: 127,408,878 (GRCm39) S1662P 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
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'- TATAACTCATCGTCCGCCGG -3'
(R):5'- CTGAGAATCCCAGGAACAGG -3'

Sequencing Primer
(F):5'- TCATCGTCCGCCGGAGAAAG -3'
(R):5'- GTGGCCTAAACAATACCCTTAGG -3'
Posted On 2020-07-28