Incidental Mutation 'R5623:Nfu1'
ID 441678
Institutional Source Beutler Lab
Gene Symbol Nfu1
Ensembl Gene ENSMUSG00000029993
Gene Name NFU1 iron-sulfur cluster scaffold
Synonyms CGI-33, Hirip5, 0610006G17Rik
MMRRC Submission 043162-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.825) question?
Stock # R5623 (G1)
Quality Score 217
Status Validated
Chromosome 6
Chromosomal Location 86986218-87005443 bp(+) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) TCGC to T at 86993188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000032060
Gene: ENSMUSG00000029993

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
SMART Domains Protein: ENSMUSP00000113332
Gene: ENSMUSG00000029993

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
SMART Domains Protein: ENSMUSP00000113637
Gene: ENSMUSG00000029993

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
SMART Domains Protein: ENSMUSP00000121746
Gene: ENSMUSG00000029993

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (65/66)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8b1 T G 18: 64,679,165 (GRCm39) Q772P possibly damaging Het
B3gnt2 C G 11: 22,787,018 (GRCm39) A57P probably damaging Het
Birc6 T G 17: 74,835,651 (GRCm39) D63E probably damaging Het
Ccdc13 T C 9: 121,662,799 (GRCm39) E72G probably damaging Het
Cfap221 C T 1: 119,881,898 (GRCm39) A297T probably benign Het
Chd1 T A 17: 15,975,194 (GRCm39) N1081K probably damaging Het
Chrm3 C A 13: 9,927,423 (GRCm39) V538L possibly damaging Het
Clec16a T A 16: 10,428,985 (GRCm39) N37K probably benign Het
Cnksr3 T A 10: 7,070,548 (GRCm39) I229F probably damaging Het
Cspg4b T C 13: 113,483,168 (GRCm39) I1590T possibly damaging Het
Dchs1 T C 7: 105,421,976 (GRCm39) E148G probably damaging Het
Diaph1 A T 18: 38,029,146 (GRCm39) probably benign Het
Dis3l A G 9: 64,214,885 (GRCm39) F895L possibly damaging Het
Dnah1 G T 14: 31,007,980 (GRCm39) D2142E possibly damaging Het
Dst T C 1: 34,229,214 (GRCm39) V1944A possibly damaging Het
Eif4a2 C T 16: 22,928,969 (GRCm39) probably benign Het
Ephb6 T A 6: 41,593,415 (GRCm39) M487K probably benign Het
Fgf18 T G 11: 33,084,272 (GRCm39) T61P probably damaging Het
G6pc2 A G 2: 69,056,927 (GRCm39) E191G probably damaging Het
Gm10717 C T 9: 3,026,318 (GRCm39) S55L probably benign Het
Gm5414 A G 15: 101,534,246 (GRCm39) F286S probably damaging Het
Gpcpd1 G T 2: 132,376,637 (GRCm39) A553E probably damaging Het
Gpr153 A G 4: 152,366,398 (GRCm39) D321G possibly damaging Het
Hecw2 T A 1: 53,871,782 (GRCm39) Q1388L probably null Het
Ighv14-3 A C 12: 114,023,710 (GRCm39) S36A probably damaging Het
Inpp5j C A 11: 3,444,766 (GRCm39) G969V probably damaging Het
Kat5 G A 19: 5,657,590 (GRCm39) R307W probably damaging Het
Klk1b21 A G 7: 43,754,989 (GRCm39) S95G probably damaging Het
Mdm1 G A 10: 117,986,694 (GRCm39) V171I possibly damaging Het
Or5k8 C T 16: 58,644,706 (GRCm39) R122H probably benign Het
Or6c206 G A 10: 129,096,901 (GRCm39) V24M probably benign Het
Phkb T A 8: 86,569,677 (GRCm39) probably benign Het
Pkd1l3 A T 8: 110,350,351 (GRCm39) T399S possibly damaging Het
Prr14l A T 5: 33,001,852 (GRCm39) probably benign Het
Psg21 A C 7: 18,388,939 (GRCm39) L51R probably damaging Het
Ptprg T A 14: 12,153,857 (GRCm38) I526N probably damaging Het
Rab1a T C 11: 20,151,626 (GRCm39) probably benign Het
Rims2 A T 15: 39,342,011 (GRCm39) Q620L probably damaging Het
Rnf215 T G 11: 4,085,453 (GRCm39) S58A probably benign Het
Scaper A C 9: 55,771,791 (GRCm39) V375G probably benign Het
Sgk3 A T 1: 9,872,520 (GRCm39) probably benign Het
Skic2 T C 17: 35,066,408 (GRCm39) K192E probably benign Het
Slc34a3 T A 2: 25,123,312 (GRCm39) probably null Het
Sspn T A 6: 145,906,952 (GRCm39) C52S probably damaging Het
Strip1 T C 3: 107,534,142 (GRCm39) E164G possibly damaging Het
Sult5a1 A C 8: 123,884,181 (GRCm39) S47A probably damaging Het
Svep1 T C 4: 58,091,964 (GRCm39) D1557G possibly damaging Het
Tdrd6 T C 17: 43,940,224 (GRCm39) I275V probably damaging Het
Thada C T 17: 84,499,411 (GRCm39) V1929I probably benign Het
Tmem132b G A 5: 125,700,416 (GRCm39) R318Q probably damaging Het
Tmem176b T G 6: 48,811,004 (GRCm39) I259L probably benign Het
Tmppe C A 9: 114,234,964 (GRCm39) P421Q possibly damaging Het
Tmprss11e G A 5: 86,857,315 (GRCm39) Q333* probably null Het
Tpcn2 T A 7: 144,821,071 (GRCm39) R328W possibly damaging Het
Trem1 C T 17: 48,544,083 (GRCm39) T36I probably damaging Het
Trpm2 C A 10: 77,767,973 (GRCm39) R842L probably damaging Het
Zfp319 A G 8: 96,052,199 (GRCm39) probably benign 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
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'- TCCTCAGGAGTGTATTTGACAGTTC -3'
(R):5'- CGTGGTTCTTGAAAATCGGAGTTC -3'

Sequencing Primer
(F):5'- AGTTCACCAAAATGGGTAATTGTG -3'
(R):5'- TTGAAAATCGGAGTTCAAGCTG -3'
Posted On 2016-11-08