Incidental Mutation 'R9311:Nfu1'
ID 705550
Institutional Source Beutler Lab
Gene Symbol Nfu1
Ensembl Gene ENSMUSG00000029993
Gene Name NFU1 iron-sulfur cluster scaffold
Synonyms CGI-33, Hirip5, 0610006G17Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.825) question?
Stock # R9311 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 86986218-87005443 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86986926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 15 (V15A)
Ref Sequence ENSEMBL: ENSMUSP00000032060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032060] [ENSMUST00000117583] [ENSMUST00000120240] [ENSMUST00000144776]
AlphaFold Q9QZ23
Predicted Effect probably benign
Transcript: ENSMUST00000032060
AA Change: V15A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032060
Gene: ENSMUSG00000029993
AA Change: V15A

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Nfu_N 59 146 1.91e-48 SMART
low complexity region 147 166 N/A INTRINSIC
Pfam:NifU 174 240 3.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117583
AA Change: V15A

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113332
Gene: ENSMUSG00000029993
AA Change: V15A

DomainStartEndE-ValueType
Nfu_N 3 90 1.91e-48 SMART
low complexity region 95 112 N/A INTRINSIC
Pfam:NifU 117 185 2e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120240
AA Change: V15A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113637
Gene: ENSMUSG00000029993
AA Change: V15A

DomainStartEndE-ValueType
Nfu_N 3 90 1.91e-48 SMART
low complexity region 91 110 N/A INTRINSIC
Pfam:NifU 118 186 2e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144776
AA Change: V15A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000121746
Gene: ENSMUSG00000029993
AA Change: V15A

DomainStartEndE-ValueType
Nfu_N 3 163 7.18e-21 SMART
low complexity region 164 183 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including succinate dehydrogenase and lipoic acid synthase. Mutations in this gene are a cause of multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of this gene are located on the short arms of chromosomes 1 and 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T C 9: 99,495,816 (GRCm39) I84T possibly damaging Het
Adad2 G T 8: 120,341,986 (GRCm39) R268L probably damaging Het
Agxt2 A T 15: 10,380,733 (GRCm39) N208I probably damaging Het
Brsk1 G T 7: 4,709,722 (GRCm39) probably null Het
Cd40 A T 2: 164,912,667 (GRCm39) Q235L possibly damaging Het
Cdcp3 A T 7: 130,859,490 (GRCm39) D1137V unknown Het
Cln6 T C 9: 62,757,900 (GRCm39) Y220H probably damaging Het
Cngb1 A T 8: 96,010,794 (GRCm39) probably null Het
Cpne1 A T 2: 155,919,723 (GRCm39) V277E probably damaging Het
Csf2rb2 C T 15: 78,176,735 (GRCm39) probably null Het
Cyp4f15 A G 17: 32,905,139 (GRCm39) T41A probably benign Het
Dab1 T C 4: 104,369,463 (GRCm39) probably null Het
Eif4e1b C A 13: 54,932,332 (GRCm39) H56N probably benign Het
Elp3 A T 14: 65,823,788 (GRCm39) D78E probably benign Het
Ephx3 C G 17: 32,408,290 (GRCm39) D45H probably benign Het
Gabarap T A 11: 69,882,549 (GRCm39) V4E probably benign Het
Gm5105 T A 3: 137,755,418 (GRCm39) D56V unknown Het
Gosr2 G T 11: 103,574,693 (GRCm39) H134Q probably damaging Het
Ifi204 A G 1: 173,589,215 (GRCm39) V72A possibly damaging Het
Irx1 A G 13: 72,107,416 (GRCm39) V422A probably benign Het
Kcne4 C A 1: 78,795,824 (GRCm39) D157E probably benign Het
Kctd13 A G 7: 126,541,345 (GRCm39) N195S probably damaging Het
Kirrel1 A G 3: 87,005,123 (GRCm39) V75A probably benign Het
Klkb1 T C 8: 45,722,983 (GRCm39) T625A probably benign Het
Lama5 A G 2: 179,838,275 (GRCm39) probably null Het
Lifr A G 15: 7,208,418 (GRCm39) I599V possibly damaging Het
Lin52 A T 12: 84,576,470 (GRCm39) E101V probably damaging Het
Liph T C 16: 21,802,680 (GRCm39) I130V probably benign Het
Liph C T 16: 21,774,913 (GRCm39) R428Q probably damaging Het
Lrrc4c A C 2: 97,461,080 (GRCm39) I569L possibly damaging Het
Mnat1 G A 12: 73,214,916 (GRCm39) V78I probably benign Het
Msln C T 17: 25,971,990 (GRCm39) D76N probably benign Het
Myh7b A G 2: 155,463,253 (GRCm39) H495R probably damaging Het
Ndst4 C T 3: 125,518,385 (GRCm39) S354L probably benign Het
Nphp4 T C 4: 152,608,714 (GRCm39) S441P probably damaging Het
Nuak1 T C 10: 84,214,090 (GRCm39) probably null Het
Or1j20 A T 2: 36,760,405 (GRCm39) I276F probably damaging Het
Or5h27 A T 16: 59,006,106 (GRCm39) C247S unknown Het
Or5w22 A G 2: 87,362,358 (GRCm39) probably benign Het
Or8b3b A G 9: 38,583,925 (GRCm39) S272P probably damaging Het
Palld A G 8: 61,978,189 (GRCm39) V1109A unknown Het
Pik3c3 G A 18: 30,445,666 (GRCm39) R551H probably benign Het
Plcb1 G A 2: 135,189,385 (GRCm39) V838I probably benign Het
Plppr4 G T 3: 117,119,518 (GRCm39) T297K probably damaging Het
Ptprd A G 4: 76,051,320 (GRCm39) I67T probably benign Het
Rb1cc1 T A 1: 6,310,539 (GRCm39) N312K probably damaging Het
Sh3glb1 A C 3: 144,397,659 (GRCm39) probably null Het
Siglec1 C T 2: 130,916,013 (GRCm39) C1283Y probably damaging Het
Spns1 T C 7: 125,972,995 (GRCm39) I204V probably damaging Het
Sprr5 T G 3: 92,440,397 (GRCm39) Q14P unknown Het
Supt6 T C 11: 78,116,284 (GRCm39) Y693C probably damaging Het
Taar9 A G 10: 23,985,152 (GRCm39) V94A probably damaging Het
Tchp T C 5: 114,846,877 (GRCm39) S55P probably benign Het
Tmem132b A G 5: 125,863,029 (GRCm39) H678R possibly damaging Het
Tnr G C 1: 159,677,663 (GRCm39) G16A probably benign Het
Top3b T C 16: 16,700,563 (GRCm39) probably null Het
Tpmt A G 13: 47,185,892 (GRCm39) probably null Het
Treh G A 9: 44,592,655 (GRCm39) V87I probably benign Het
Ttc4 T C 4: 106,535,963 (GRCm39) D33G probably benign Het
Usp47 A G 7: 111,703,257 (GRCm39) D1171G probably benign Het
Vmn2r61 G T 7: 41,950,092 (GRCm39) L837F possibly damaging Het
Vmn2r86 T A 10: 130,288,440 (GRCm39) N354Y probably damaging Het
Vmn2r88 C G 14: 51,650,503 (GRCm39) A72G probably benign Het
Zscan4b C A 7: 10,635,950 (GRCm39) V126F probably damaging Het
Other mutations in Nfu1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Nfu1 APN 6 86,992,577 (GRCm39) missense probably damaging 1.00
IGL00467:Nfu1 APN 6 86,997,755 (GRCm39) missense possibly damaging 0.91
IGL00676:Nfu1 APN 6 86,992,581 (GRCm39) missense probably damaging 1.00
IGL01798:Nfu1 APN 6 86,992,605 (GRCm39) missense probably damaging 1.00
R0583:Nfu1 UTSW 6 86,986,934 (GRCm39) missense probably benign 0.01
R1584:Nfu1 UTSW 6 86,997,791 (GRCm39) missense probably damaging 0.99
R3696:Nfu1 UTSW 6 86,992,634 (GRCm39) missense probably damaging 1.00
R3698:Nfu1 UTSW 6 86,992,634 (GRCm39) missense probably damaging 1.00
R4659:Nfu1 UTSW 6 86,996,408 (GRCm39) missense probably damaging 0.98
R5623:Nfu1 UTSW 6 86,993,188 (GRCm39) small deletion probably benign
R5679:Nfu1 UTSW 6 86,996,379 (GRCm39) missense probably damaging 1.00
R5823:Nfu1 UTSW 6 87,002,541 (GRCm39) missense probably damaging 0.98
R6898:Nfu1 UTSW 6 86,994,034 (GRCm39) splice site probably null
R7002:Nfu1 UTSW 6 86,993,254 (GRCm39) missense probably benign 0.00
R7122:Nfu1 UTSW 6 86,986,863 (GRCm39) unclassified probably benign
R8747:Nfu1 UTSW 6 86,996,400 (GRCm39) missense probably damaging 1.00
R8804:Nfu1 UTSW 6 86,993,414 (GRCm39) intron probably benign
Predicted Primers
Posted On 2022-03-25