Incidental Mutation 'R4659:Nfu1'
ID 352672
Institutional Source Beutler Lab
Gene Symbol Nfu1
Ensembl Gene ENSMUSG00000029993
Gene Name NFU1 iron-sulfur cluster scaffold
Synonyms CGI-33, Hirip5, 0610006G17Rik
MMRRC Submission 041919-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.825) question?
Stock # R4659 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 86986218-87005443 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86996408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 120 (T120S)
Ref Sequence ENSEMBL: ENSMUSP00000113637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032060] [ENSMUST00000117583] [ENSMUST00000120240] [ENSMUST00000144776]
AlphaFold Q9QZ23
Predicted Effect probably damaging
Transcript: ENSMUST00000032060
AA Change: T120S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032060
Gene: ENSMUSG00000029993
AA Change: T120S

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: T120S

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113332
Gene: ENSMUSG00000029993
AA Change: T120S

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: T120S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113637
Gene: ENSMUSG00000029993
AA Change: T120S

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 probably benign
Transcript: ENSMUST00000144776
AA Change: T193S

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121746
Gene: ENSMUSG00000029993
AA Change: T193S

DomainStartEndE-ValueType
Nfu_N 3 163 7.18e-21 SMART
low complexity region 164 183 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203512
Meta Mutation Damage Score 0.0818 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 96% (74/77)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 C A 6: 142,618,321 (GRCm39) probably null Het
Ankrd22 C T 19: 34,102,968 (GRCm39) V118I probably damaging Het
Aoc1 A T 6: 48,883,010 (GRCm39) E295D probably benign Het
Arap2 T C 5: 62,811,469 (GRCm39) N1114S possibly damaging Het
AU021092 C G 16: 5,030,011 (GRCm39) A335P probably damaging Het
Carhsp1 T C 16: 8,482,129 (GRCm39) T51A probably benign Het
Cdc42bpb T C 12: 111,306,325 (GRCm39) D152G probably damaging Het
Cep70 T A 9: 99,178,394 (GRCm39) D497E possibly damaging Het
Chrm5 T C 2: 112,310,102 (GRCm39) N338S probably benign Het
Cldn8 G A 16: 88,359,296 (GRCm39) H210Y probably benign Het
Clhc1 T A 11: 29,528,229 (GRCm39) *586K probably null Het
Cplane1 G T 15: 8,245,760 (GRCm39) probably benign Het
Dop1a T A 9: 86,384,085 (GRCm39) probably benign Het
Dync1h1 T C 12: 110,595,201 (GRCm39) F1371S possibly damaging Het
Eif6 A G 2: 155,668,101 (GRCm39) I46T probably damaging Het
Esco2 G A 14: 66,064,035 (GRCm39) T383M possibly damaging Het
Exoc8 T C 8: 125,624,271 (GRCm39) D32G probably damaging Het
Fam149b G T 14: 20,417,941 (GRCm39) S216I probably benign Het
Fam219a T C 4: 41,521,645 (GRCm39) D87G probably null Het
Fbxw26 A T 9: 109,573,939 (GRCm39) V71D probably damaging Het
Gabra4 T A 5: 71,798,487 (GRCm39) K164M probably damaging Het
Gm57858 T C 3: 36,080,103 (GRCm39) D218G possibly damaging Het
Gm8603 G A 17: 13,737,290 (GRCm39) noncoding transcript Het
Gnmt A G 17: 47,036,892 (GRCm39) F239S probably damaging Het
Gpsm1 G A 2: 26,209,843 (GRCm39) probably benign Het
Jam2 G A 16: 84,609,840 (GRCm39) V151M probably damaging Het
Kcnj1 A T 9: 32,305,444 (GRCm39) D2V probably benign Het
Limch1 C T 5: 67,184,900 (GRCm39) R797C probably damaging Het
Lrrc9 T A 12: 72,517,038 (GRCm39) F597I probably damaging Het
Lrriq3 T A 3: 154,835,090 (GRCm39) I275N possibly damaging Het
Mcoln1 T A 8: 3,560,840 (GRCm39) S387R probably damaging Het
Mgst3 T A 1: 167,204,848 (GRCm39) Q58L probably damaging Het
Mical1 G A 10: 41,362,932 (GRCm39) probably benign Het
Mmp3 C A 9: 7,453,673 (GRCm39) D431E probably benign Het
Mx1 T C 16: 97,256,439 (GRCm39) probably null Het
Myo7a A G 7: 97,734,673 (GRCm39) L607P probably damaging Het
Myt1l A G 12: 29,899,456 (GRCm39) N153D probably damaging Het
Nhlrc2 T C 19: 56,564,699 (GRCm39) V341A possibly damaging Het
Notch1 T C 2: 26,360,901 (GRCm39) E1148G probably damaging Het
Nqo1 C T 8: 108,117,676 (GRCm39) probably null Het
Nwd1 T A 8: 73,421,949 (GRCm39) D998E probably benign Het
Or8k18 G A 2: 86,085,357 (GRCm39) Q227* probably null Het
Oxct2a T C 4: 123,216,473 (GRCm39) I303V probably benign Het
Parp10 A T 15: 76,127,185 (GRCm39) D58E probably damaging Het
Pcdha6 T A 18: 37,102,292 (GRCm39) V495E probably damaging Het
Pitrm1 T A 13: 6,603,218 (GRCm39) S88R probably benign Het
Pxdn T C 12: 30,044,552 (GRCm39) V510A probably benign Het
Ranbp17 T A 11: 33,216,288 (GRCm39) D820V probably damaging Het
Sec24c G T 14: 20,733,212 (GRCm39) G180C probably damaging Het
Serpina3n T C 12: 104,379,752 (GRCm39) S382P probably benign Het
Sestd1 A T 2: 77,042,843 (GRCm39) M237K probably null Het
Sf3a2 T C 10: 80,639,418 (GRCm39) I136T probably damaging Het
Sh3tc2 A G 18: 62,107,580 (GRCm39) Y197C probably benign Het
Speer4b T C 5: 27,702,893 (GRCm39) K204E probably benign Het
Speer4f1 A C 5: 17,681,221 (GRCm39) E33A possibly damaging Het
Sspo T A 6: 48,461,147 (GRCm39) D3529E probably damaging Het
Stard13 T C 5: 150,986,253 (GRCm39) D419G probably benign Het
Tg A G 15: 66,545,769 (GRCm39) S164G possibly damaging Het
Thap12 A G 7: 98,359,298 (GRCm39) probably benign Het
Thsd1 C A 8: 22,749,314 (GRCm39) Y667* probably null Het
Tnks A C 8: 35,316,465 (GRCm39) Y885D possibly damaging Het
Ttll3 A G 6: 113,391,102 (GRCm39) I896V probably benign Het
Txnip T G 3: 96,466,743 (GRCm39) F190C probably damaging Het
Urb1 T C 16: 90,573,017 (GRCm39) D1005G probably damaging Het
Usp3 T C 9: 66,434,352 (GRCm39) probably null Het
Usp54 G T 14: 20,615,060 (GRCm39) Q794K probably damaging Het
Xrn2 A G 2: 146,903,394 (GRCm39) Q798R probably benign Het
Zfp189 A G 4: 49,530,342 (GRCm39) I482V probably benign Het
Zfp28 A G 7: 6,396,506 (GRCm39) N314D probably benign Het
Zmym4 A G 4: 126,842,221 (GRCm39) probably null 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
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'- ACCAGAGACAGTTTGGGGAC -3'
(R):5'- GCTAACTTGACAAATGTGGTAGAC -3'

Sequencing Primer
(F):5'- CAGAGACAGTTTGGGGACAGTTTG -3'
(R):5'- GGAAATCTAAACTGGGTTCTCTGCC -3'
Posted On 2015-10-08