Incidental Mutation 'R0583:Nfu1'
ID 56502
Institutional Source Beutler Lab
Gene Symbol Nfu1
Ensembl Gene ENSMUSG00000029993
Gene Name NFU1 iron-sulfur cluster scaffold
Synonyms CGI-33, Hirip5, 0610006G17Rik
MMRRC Submission 038773-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.825) question?
Stock # R0583 (G1)
Quality Score 171
Status Not validated
Chromosome 6
Chromosomal Location 86986218-87005443 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86986934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 18 (C18R)
Ref Sequence ENSEMBL: ENSMUSP00000121746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032060] [ENSMUST00000117583] [ENSMUST00000120240] [ENSMUST00000144776]
AlphaFold Q9QZ23
Predicted Effect probably benign
Transcript: ENSMUST00000032060
AA Change: C18R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032060
Gene: ENSMUSG00000029993
AA Change: C18R

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: C18R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113332
Gene: ENSMUSG00000029993
AA Change: C18R

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: C18R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113637
Gene: ENSMUSG00000029993
AA Change: C18R

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 noncoding transcript
Transcript: ENSMUST00000127819
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140343
Predicted Effect probably benign
Transcript: ENSMUST00000144776
AA Change: C18R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000121746
Gene: ENSMUSG00000029993
AA Change: C18R

DomainStartEndE-ValueType
Nfu_N 3 163 7.18e-21 SMART
low complexity region 164 183 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205018
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.1%
  • 20x: 93.2%
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,164,926 (GRCm39) S483P probably benign Het
5730480H06Rik A G 5: 48,537,470 (GRCm39) H169R probably damaging Het
Actn1 T A 12: 80,245,803 (GRCm39) I127F probably damaging Het
Cadm3 T G 1: 173,168,738 (GRCm39) T277P probably benign Het
Cast T C 13: 74,861,797 (GRCm39) T629A probably damaging Het
Cblc C A 7: 19,526,486 (GRCm39) C201F probably benign Het
Ccdc154 T A 17: 25,387,398 (GRCm39) D375E possibly damaging Het
Cdk6 A G 5: 3,523,183 (GRCm39) D201G probably damaging Het
Cep95 T C 11: 106,705,449 (GRCm39) V478A probably benign Het
Ciita T C 16: 10,341,668 (GRCm39) probably null Het
Clec4e A G 6: 123,260,653 (GRCm39) F135S probably damaging Het
Cntn6 A G 6: 104,753,275 (GRCm39) D337G possibly damaging Het
Crlf3 A T 11: 79,950,107 (GRCm39) H174Q probably damaging Het
Cyb5r1 T A 1: 134,335,339 (GRCm39) F93I probably damaging Het
Dop1b T C 16: 93,552,374 (GRCm39) I271T probably benign Het
Duxf1 G A 10: 58,059,210 (GRCm39) L515F probably damaging Het
Fcho1 T C 8: 72,168,369 (GRCm39) Y218C probably damaging Het
Fhad1 C T 4: 141,631,301 (GRCm39) M1297I probably benign Het
Igdcc4 T C 9: 65,029,095 (GRCm39) V244A possibly damaging Het
Ikzf5 A G 7: 130,993,514 (GRCm39) probably null Het
Ilvbl T A 10: 78,419,101 (GRCm39) V450E probably damaging Het
Kcns3 T G 12: 11,141,479 (GRCm39) N407H probably damaging Het
Klhl11 T C 11: 100,355,150 (GRCm39) K224E possibly damaging Het
Klra17 T A 6: 129,845,656 (GRCm39) D186V probably damaging Het
Lrrc37a T C 11: 103,389,263 (GRCm39) D2054G probably benign Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Mrgbp A G 2: 180,226,239 (GRCm39) N104S probably benign Het
Mroh2a GT GTT 1: 88,183,888 (GRCm39) probably null Het
Muc5ac C A 7: 141,361,345 (GRCm39) T1552N probably damaging Het
Muc5b T A 7: 141,410,435 (GRCm39) Y1269* probably null Het
Myef2 T C 2: 124,939,901 (GRCm39) probably null Het
Myg1 C T 15: 102,246,225 (GRCm39) Q367* probably null Het
Nalcn T C 14: 123,531,755 (GRCm39) N1365S possibly damaging Het
Nkx2-6 A T 14: 69,412,228 (GRCm39) Q132L probably damaging Het
Or10a3b C T 7: 108,444,621 (GRCm39) A199T possibly damaging Het
Or8k38 T A 2: 86,488,704 (GRCm39) I33F probably benign Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC X: 142,526,889 (GRCm39) probably benign Het
Prh1 A T 6: 132,548,796 (GRCm39) Q101L unknown Het
Ribc2 A T 15: 85,017,115 (GRCm39) probably null Het
Rnf19a C A 15: 36,253,151 (GRCm39) R396L probably damaging Het
Sdad1 A G 5: 92,452,923 (GRCm39) I105T probably damaging Het
Sec24b G T 3: 129,834,960 (GRCm39) Y79* probably null Het
Tatdn2 A G 6: 113,679,486 (GRCm39) E277G possibly damaging Het
Tex10 A C 4: 48,451,952 (GRCm39) F725V probably damaging Het
Themis3 T C 17: 66,866,748 (GRCm39) D164G probably benign Het
Ubxn7 T C 16: 32,194,732 (GRCm39) W220R probably damaging Het
Usp33 C A 3: 152,073,891 (GRCm39) R246S probably damaging Het
Vmn2r102 T A 17: 19,897,043 (GRCm39) V130E probably benign Het
Vmn2r112 C T 17: 22,837,930 (GRCm39) P797L probably damaging Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Yme1l1 T C 2: 23,076,262 (GRCm39) V340A probably damaging Het
Zfta A G 19: 7,397,639 (GRCm39) D62G 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
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
R9311:Nfu1 UTSW 6 86,986,926 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCAGCACCGCCCTCAACTTGTA -3'
(R):5'- AGCCGTGATCTCCCTGGAAAGGGAA -3'

Sequencing Primer
(F):5'- TTGTAAGGAACCGGCGTCC -3'
(R):5'- CCCTGGAAAGGGAACGACAG -3'
Posted On 2013-07-11