Incidental Mutation 'IGL00467:Nfu1'
ID5412
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: 0.783) question?
Stock #IGL00467
Quality Score
Status
Chromosome6
Chromosomal Location87009236-87028461 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87020773 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 213 (M213V)
Ref Sequence ENSEMBL: ENSMUSP00000121746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032060] [ENSMUST00000117583] [ENSMUST00000120240] [ENSMUST00000144776]
Predicted Effect probably benign
Transcript: ENSMUST00000032060
AA Change: M140V

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000032060
Gene: ENSMUSG00000029993
AA Change: M140V

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: M140V

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113332
Gene: ENSMUSG00000029993
AA Change: M140V

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: M140V

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113637
Gene: ENSMUSG00000029993
AA Change: M140V

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 possibly damaging
Transcript: ENSMUST00000144776
AA Change: M213V

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121746
Gene: ENSMUSG00000029993
AA Change: M213V

DomainStartEndE-ValueType
Nfu_N 3 163 7.18e-21 SMART
low complexity region 164 183 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204103
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,145,670 probably benign Het
Acvrl1 C A 15: 101,143,340 probably null Het
Ahnak T A 19: 9,007,223 M1957K probably damaging Het
Brinp3 A G 1: 146,901,774 D653G probably damaging Het
Dcstamp T A 15: 39,754,416 C74S probably benign Het
Esrrg A G 1: 188,210,910 E360G probably damaging Het
Fam13a C T 6: 58,940,113 probably benign Het
Fam208a A G 14: 27,448,164 N350S probably benign Het
Glipr1l1 A G 10: 112,078,381 T216A probably benign Het
Lama2 T A 10: 27,467,197 probably benign Het
Men1 G A 19: 6,337,207 probably null Het
Mta3 T A 17: 83,755,684 probably benign Het
Pam A T 1: 97,924,427 probably benign Het
Pcca A T 14: 122,582,629 M62L probably benign Het
Phf6 A G X: 52,931,646 Y25C probably damaging Het
Phlpp2 C T 8: 109,925,790 H589Y probably benign Het
Ppp1r13b A G 12: 111,829,370 I956T probably damaging Het
Prkcd G A 14: 30,602,422 probably benign Het
Rapgef4 A T 2: 72,256,312 N973I possibly damaging Het
Rnf20 G T 4: 49,655,480 E905* probably null Het
Slc26a6 T A 9: 108,855,889 D22E probably benign Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Taf6l A T 19: 8,783,388 N57K probably benign Het
Tas2r109 C A 6: 132,980,023 V315L probably benign Het
Tex9 T C 9: 72,477,835 T240A probably benign Het
Trank1 G A 9: 111,364,666 probably benign Het
Trim30c A T 7: 104,382,182 Y475* probably null Het
Trim60 T C 8: 65,000,719 T293A possibly damaging Het
Ttc21b T C 2: 66,188,364 Y1233C probably damaging Het
Wdr75 A G 1: 45,802,075 I106V probably benign Het
Zkscan16 T C 4: 58,957,709 S664P possibly damaging Het
Other mutations in Nfu1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Nfu1 APN 6 87015595 missense probably damaging 1.00
IGL00676:Nfu1 APN 6 87015599 missense probably damaging 1.00
IGL01798:Nfu1 APN 6 87015623 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 On2012-04-20