Incidental Mutation 'R8301:Nfs1'
ID 639238
Institutional Source Beutler Lab
Gene Symbol Nfs1
Ensembl Gene ENSMUSG00000027618
Gene Name nitrogen fixation gene 1 (S. cerevisiae)
Synonyms m-Nfs1
MMRRC Submission 067789-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R8301 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 155965559-155986106 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 155976413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 160 (C160*)
Ref Sequence ENSEMBL: ENSMUSP00000029147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029147] [ENSMUST00000184469]
AlphaFold Q9Z1J3
Predicted Effect probably null
Transcript: ENSMUST00000029147
AA Change: C160*
SMART Domains Protein: ENSMUSP00000029147
Gene: ENSMUSG00000027618
AA Change: C160*

DomainStartEndE-ValueType
low complexity region 10 31 N/A INTRINSIC
Pfam:Aminotran_5 61 424 6.2e-94 PFAM
Pfam:Beta_elim_lyase 94 344 7.8e-12 PFAM
Pfam:DegT_DnrJ_EryC1 100 250 1.8e-6 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000184469
AA Change: C49*
SMART Domains Protein: ENSMUSP00000139294
Gene: ENSMUSG00000027618
AA Change: C49*

DomainStartEndE-ValueType
Pfam:Aminotran_5 1 81 2.3e-10 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Iron-sulfur clusters are required for the function of many cellular enzymes. The proteins encoded by this gene supply inorganic sulfur to these clusters by removing the sulfur from cysteine, creating alanine in the process. This gene uses alternate in-frame translation initiation sites to generate mitochondrial forms and cytoplasmic/nuclear forms. Selection of the alternative initiation sites is determined by the cytosolic pH. The encoded proteins belong to the class-V family of pyridoxal phosphate-dependent aminotransferases. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 88,120,364 (GRCm39) I374F probably benign Het
Ak9 G A 10: 41,300,712 (GRCm39) V1108I Het
Aldh16a1 C T 7: 44,791,406 (GRCm39) A790T possibly damaging Het
Anks1 A T 17: 28,278,554 (GRCm39) probably benign Het
Antxr2 T G 5: 98,125,538 (GRCm39) T240P probably benign Het
Arfgef1 A T 1: 10,250,058 (GRCm39) M945K probably damaging Het
Arhgef17 T C 7: 100,528,866 (GRCm39) T1591A probably benign Het
Aurka A G 2: 172,198,850 (GRCm39) S374P probably damaging Het
Bccip T C 7: 133,320,933 (GRCm39) S236P probably benign Het
Cacna1s T A 1: 136,001,179 (GRCm39) probably benign Het
Calm1 A G 12: 100,171,944 (GRCm39) E132G probably benign Het
Casz1 A G 4: 149,030,500 (GRCm39) D1173G probably damaging Het
Cdh17 A G 4: 11,795,659 (GRCm39) D413G probably damaging Het
Cfap57 A G 4: 118,450,271 (GRCm39) I617T possibly damaging Het
Creb5 A G 6: 53,658,018 (GRCm39) D116G possibly damaging Het
Csnka2ip A C 16: 64,299,354 (GRCm39) S337A unknown Het
Ddx60 A G 8: 62,453,631 (GRCm39) E1250G probably benign Het
Dlgap2 T A 8: 14,873,577 (GRCm39) S727T probably benign Het
Dpy19l1 T C 9: 24,396,407 (GRCm39) probably benign Het
Ebf2 A G 14: 67,476,431 (GRCm39) T134A possibly damaging Het
Echdc2 A T 4: 108,030,106 (GRCm39) M136L probably benign Het
Enpp2 A G 15: 54,714,803 (GRCm39) F598S probably benign Het
Extl3 A C 14: 65,313,733 (GRCm39) L483R probably damaging Het
Gcat T C 15: 78,920,089 (GRCm39) V227A possibly damaging Het
Hsf2 A G 10: 57,381,442 (GRCm39) D344G probably damaging Het
Ighm C T 12: 113,385,165 (GRCm39) G265D Het
Igsf9b T G 9: 27,246,035 (GRCm39) probably benign Het
Ints6 A G 14: 62,939,902 (GRCm39) V596A probably benign Het
Ints8 T C 4: 11,246,120 (GRCm39) E182G probably damaging Het
Iqgap2 A G 13: 95,818,659 (GRCm39) probably null Het
Kalrn G T 16: 34,177,470 (GRCm39) Q250K probably benign Het
Lrrc1 T A 9: 77,451,770 (GRCm39) N46Y probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naa50 A G 16: 43,977,494 (GRCm39) N74S probably benign Het
Neb T C 2: 52,178,847 (GRCm39) N1303S probably benign Het
Or11g7 T A 14: 50,691,021 (GRCm39) S171T probably benign Het
Or52s1b T G 7: 102,822,280 (GRCm39) K188T probably damaging Het
Or5p52 A G 7: 107,502,833 (GRCm39) K303R probably benign Het
Or6c76 T C 10: 129,612,709 (GRCm39) S309P probably benign Het
Orm2 T C 4: 63,281,263 (GRCm39) F67S possibly damaging Het
Pex5 A G 6: 124,382,142 (GRCm39) S180P probably benign Het
Phf14 G C 6: 11,992,061 (GRCm39) G746R probably damaging Het
Pkm T A 9: 59,575,914 (GRCm39) V110E probably damaging Het
Plekha6 T G 1: 133,192,425 (GRCm39) N78K probably damaging Het
Plxna2 G A 1: 194,472,483 (GRCm39) V1076I probably benign Het
Polq C A 16: 36,882,181 (GRCm39) D1448E probably damaging Het
Pot1b T C 17: 55,994,895 (GRCm39) T256A probably benign Het
Prkch C T 12: 73,749,538 (GRCm39) T377I possibly damaging Het
Prl3c1 A C 13: 27,383,168 (GRCm39) probably benign Het
Prl7b1 A C 13: 27,786,755 (GRCm39) V158G possibly damaging Het
Prss22 T C 17: 24,212,955 (GRCm39) S261G probably damaging Het
Psd T C 19: 46,309,541 (GRCm39) probably benign Het
Psg18 A T 7: 18,087,302 (GRCm39) Y119N probably damaging Het
Rbm6 T G 9: 107,729,993 (GRCm39) R218S probably damaging Het
Rnf213 T A 11: 119,325,568 (GRCm39) S1491T Het
Rsf1 T C 7: 97,311,132 (GRCm39) S621P Het
Runx1 C A 16: 92,402,544 (GRCm39) *466L probably null Het
Samd4 A G 14: 47,254,135 (GRCm39) I200V probably benign Het
Sdsl C T 5: 120,597,584 (GRCm39) C241Y probably benign Het
Selenon T C 4: 134,278,725 (GRCm39) probably benign Het
Setx C T 2: 29,035,702 (GRCm39) P729L possibly damaging Het
Sf1 C T 19: 6,418,396 (GRCm39) Q55* probably null Het
Slc12a5 A T 2: 164,835,611 (GRCm39) N833I probably damaging Het
Slc1a4 T C 11: 20,282,286 (GRCm39) R63G probably damaging Het
Tmeff2 G T 1: 51,220,996 (GRCm39) A324S probably benign Het
Tmem217 A G 17: 29,745,466 (GRCm39) I88T possibly damaging Het
Tnfsf8 A T 4: 63,779,115 (GRCm39) I61N probably benign Het
Tpbgl G T 7: 99,274,774 (GRCm39) A361E probably damaging Het
Trhde T A 10: 114,322,911 (GRCm39) E667V probably benign Het
Unc13b A G 4: 43,263,568 (GRCm39) T1598A probably benign Het
Vmn2r73 A T 7: 85,507,510 (GRCm39) C601S probably benign Het
Zfp873 C A 10: 81,896,713 (GRCm39) H481Q probably damaging Het
Other mutations in Nfs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02318:Nfs1 APN 2 155,966,191 (GRCm39) missense probably damaging 1.00
IGL02944:Nfs1 APN 2 155,969,688 (GRCm39) missense probably damaging 1.00
IGL03350:Nfs1 APN 2 155,969,660 (GRCm39) missense probably benign 0.37
lantana UTSW 2 155,976,369 (GRCm39) missense possibly damaging 0.94
G1Funyon:Nfs1 UTSW 2 155,976,413 (GRCm39) nonsense probably null
R0118:Nfs1 UTSW 2 155,976,444 (GRCm39) missense probably damaging 1.00
R0374:Nfs1 UTSW 2 155,974,580 (GRCm39) missense probably damaging 1.00
R1653:Nfs1 UTSW 2 155,967,256 (GRCm39) missense probably damaging 1.00
R3787:Nfs1 UTSW 2 155,970,503 (GRCm39) missense possibly damaging 0.53
R4614:Nfs1 UTSW 2 155,985,970 (GRCm39) missense probably benign 0.04
R4782:Nfs1 UTSW 2 155,976,369 (GRCm39) missense possibly damaging 0.94
R4799:Nfs1 UTSW 2 155,976,369 (GRCm39) missense possibly damaging 0.94
R5053:Nfs1 UTSW 2 155,968,318 (GRCm39) missense probably damaging 0.99
R5447:Nfs1 UTSW 2 155,984,056 (GRCm39) missense probably benign 0.01
R5479:Nfs1 UTSW 2 155,970,422 (GRCm39) missense probably damaging 1.00
R5992:Nfs1 UTSW 2 155,976,373 (GRCm39) missense probably damaging 0.98
R7267:Nfs1 UTSW 2 155,965,703 (GRCm39) missense probably benign 0.12
R7400:Nfs1 UTSW 2 155,968,243 (GRCm39) missense probably damaging 1.00
R7886:Nfs1 UTSW 2 155,983,981 (GRCm39) missense unknown
R8729:Nfs1 UTSW 2 155,965,727 (GRCm39) missense probably benign 0.20
R8905:Nfs1 UTSW 2 155,970,503 (GRCm39) missense probably damaging 0.96
R9099:Nfs1 UTSW 2 155,968,934 (GRCm39) missense probably damaging 1.00
R9417:Nfs1 UTSW 2 155,965,851 (GRCm39) nonsense probably null
R9661:Nfs1 UTSW 2 155,970,473 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TTAGGCTCCACCCAAAACTG -3'
(R):5'- GTATCACATGCACCAGTGGG -3'

Sequencing Primer
(F):5'- CCAAAACTGGAGAGACAGACTTACAG -3'
(R):5'- GAAACGTCTTCAGCGTACTTGAG -3'
Posted On 2020-07-28