Incidental Mutation 'IGL01798:Nfu1'
ID155419
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfu1
Ensembl Gene ENSMUSG00000029993
Gene NameNFU1 iron-sulfur cluster scaffold
SynonymsCGI-33, 0610006G17Rik, Hirip5
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.802) question?
Stock #IGL01798
Quality Score
Status
Chromosome6
Chromosomal Location87009236-87028461 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 87015623 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 73 (I73K)
Ref Sequence ENSEMBL: ENSMUSP00000121746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032060] [ENSMUST00000117583] [ENSMUST00000120240] [ENSMUST00000144776]
Predicted Effect probably damaging
Transcript: ENSMUST00000032060
AA Change: I73K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032060
Gene: ENSMUSG00000029993
AA Change: I73K

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 possibly damaging
Transcript: ENSMUST00000117583
AA Change: I73K

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113332
Gene: ENSMUSG00000029993
AA Change: I73K

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 damaging
Transcript: ENSMUST00000120240
AA Change: I73K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113637
Gene: ENSMUSG00000029993
AA Change: I73K

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 damaging
Transcript: ENSMUST00000144776
AA Change: I73K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121746
Gene: ENSMUSG00000029993
AA Change: I73K

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
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,256,638 I818V probably benign Het
Adam22 A C 5: 8,232,604 probably null Het
Afap1 T A 5: 35,935,682 probably null Het
Aunip G T 4: 134,523,411 K222N possibly damaging Het
Ccnt1 A G 15: 98,544,241 V382A probably benign Het
Clip1 T C 5: 123,583,549 D1123G probably damaging Het
Cxcr1 T A 1: 74,192,600 I88F possibly damaging Het
Duox2 A C 2: 122,281,908 Y1266D probably damaging Het
Elk4 T A 1: 132,017,854 S157T possibly damaging Het
Erc1 T C 6: 119,620,337 T1004A possibly damaging Het
Fah T C 7: 84,589,629 N336S probably benign Het
Glg1 A T 8: 111,192,700 S253T possibly damaging Het
Gm10377 A T 14: 42,792,907 I167K probably benign Het
Hipk1 A T 3: 103,761,559 I507N probably damaging Het
Hnf1a T C 5: 114,953,673 E357G probably damaging Het
Ighv1-22 A T 12: 114,746,678 L10H probably damaging Het
Igkv6-23 A G 6: 70,260,590 Y56H probably damaging Het
Lyrm9 A G 11: 78,838,129 I56V probably damaging Het
Ncam1 G T 9: 49,508,607 T804K probably damaging Het
Ruvbl2 A G 7: 45,422,163 L432P probably damaging Het
Tcf3 T C 10: 80,413,209 T527A probably benign Het
Tle1 T C 4: 72,137,148 D432G probably damaging Het
Other mutations in Nfu1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Nfu1 APN 6 87015595 missense probably damaging 1.00
IGL00467:Nfu1 APN 6 87020773 missense possibly damaging 0.91
IGL00676:Nfu1 APN 6 87015599 missense probably damaging 1.00
R0583:Nfu1 UTSW 6 87009952 missense probably benign 0.01
R1584:Nfu1 UTSW 6 87020809 missense probably damaging 0.99
R3696:Nfu1 UTSW 6 87015652 missense probably damaging 1.00
R3698:Nfu1 UTSW 6 87015652 missense probably damaging 1.00
R4659:Nfu1 UTSW 6 87019426 missense probably damaging 0.98
R5623:Nfu1 UTSW 6 87016206 small deletion probably benign
R5679:Nfu1 UTSW 6 87019397 missense probably damaging 1.00
R5823:Nfu1 UTSW 6 87025559 missense probably damaging 0.98
R6898:Nfu1 UTSW 6 87017052 intron probably null
R7002:Nfu1 UTSW 6 87016272 missense probably benign 0.00
R7122:Nfu1 UTSW 6 87009881 unclassified probably benign
Posted On2014-02-04