Incidental Mutation 'R1653:Nfs1'
ID 188837
Institutional Source Beutler Lab
Gene Symbol Nfs1
Ensembl Gene ENSMUSG00000027618
Gene Name nitrogen fixation gene 1 (S. cerevisiae)
Synonyms m-Nfs1
MMRRC Submission 039689-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R1653 (G1)
Quality Score 190
Status Not validated
Chromosome 2
Chromosomal Location 155965559-155986106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 155967256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 44 (G44D)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029147] [ENSMUST00000184469]
AlphaFold Q9Z1J3
Predicted Effect probably damaging
Transcript: ENSMUST00000029147
AA Change: V421M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029147
Gene: ENSMUSG00000027618
AA Change: V421M

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 unknown
Transcript: ENSMUST00000159952
AA Change: V67M
SMART Domains Protein: ENSMUSP00000124101
Gene: ENSMUSG00000098950
AA Change: V67M

DomainStartEndE-ValueType
SCOP:d1eg5a_ 3 82 2e-15 SMART
PDB:1P3W|A 3 86 3e-34 PDB
low complexity region 93 106 N/A INTRINSIC
Blast:RRM_2 124 160 2e-14 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000160165
AA Change: G44D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124858
Gene: ENSMUSG00000098950
AA Change: G44D

DomainStartEndE-ValueType
PDB:1P3W|A 3 28 1e-6 PDB
low complexity region 36 50 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000162612
AA Change: V67M
SMART Domains Protein: ENSMUSP00000125190
Gene: ENSMUSG00000098950
AA Change: V67M

DomainStartEndE-ValueType
SCOP:d1eg5a_ 3 82 1e-15 SMART
PDB:1P3W|A 3 86 2e-34 PDB
low complexity region 93 106 N/A INTRINSIC
Blast:RRM_2 124 161 1e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000184469
SMART Domains Protein: ENSMUSP00000139294
Gene: ENSMUSG00000027618

DomainStartEndE-ValueType
Pfam:Aminotran_5 1 81 2.3e-10 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A T 8: 44,103,682 (GRCm39) C654* probably null Het
Adamts19 T A 18: 59,023,365 (GRCm39) N253K probably benign Het
Adgrb3 A G 1: 25,140,584 (GRCm39) L1162S probably benign Het
Ap2b1 T A 11: 83,237,657 (GRCm39) Y574N probably damaging Het
Atrn A G 2: 130,777,544 (GRCm39) I198V probably benign Het
Bcan T A 3: 87,901,503 (GRCm39) I400F probably damaging Het
Capn10 A G 1: 92,874,620 (GRCm39) Y617C probably damaging Het
Capn8 A G 1: 182,451,516 (GRCm39) N578D probably benign Het
Casd1 T C 6: 4,624,134 (GRCm39) L309P probably benign Het
Ccser1 T A 6: 61,288,449 (GRCm39) I204K probably benign Het
Cd276 T C 9: 58,444,732 (GRCm39) T80A probably benign Het
Cdh3 T C 8: 107,265,700 (GRCm39) S248P probably damaging Het
Celsr2 T C 3: 108,320,836 (GRCm39) T659A possibly damaging Het
Col6a4 C T 9: 105,949,608 (GRCm39) V676I probably damaging Het
Crmp1 T A 5: 37,443,812 (GRCm39) V575D probably damaging Het
Ep400 G A 5: 110,841,040 (GRCm39) Q1795* probably null Het
Gcnt3 A G 9: 69,942,359 (GRCm39) C70R probably damaging Het
Gm12258 T C 11: 58,749,113 (GRCm39) I96T possibly damaging Het
Gpr183 A G 14: 122,191,675 (GRCm39) F282S probably damaging Het
Igfals T C 17: 25,100,052 (GRCm39) V381A probably benign Het
Irs3 C A 5: 137,642,783 (GRCm39) L218F probably damaging Het
Kdm5b T C 1: 134,530,219 (GRCm39) F410S probably damaging Het
Klc4 T C 17: 46,942,785 (GRCm39) Y593C possibly damaging Het
Lce1h T A 3: 92,670,750 (GRCm39) Q134L unknown Het
Lyst T C 13: 13,809,811 (GRCm39) S494P probably damaging Het
Marchf3 A G 18: 56,944,967 (GRCm39) M42T probably benign Het
Myh7 A G 14: 55,228,246 (GRCm39) I250T probably benign Het
N4bp1 G T 8: 87,571,576 (GRCm39) H807Q probably benign Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Nrg1 C T 8: 32,308,681 (GRCm39) R445H probably damaging Het
Or14c43 T C 7: 86,115,420 (GRCm39) V267A probably benign Het
Or4e5 A T 14: 52,728,229 (GRCm39) F64Y probably damaging Het
Or56a5 T A 7: 104,793,077 (GRCm39) D141V possibly damaging Het
Pak5 C T 2: 135,958,807 (GRCm39) V94M probably damaging Het
Pdk1 G A 2: 71,719,339 (GRCm39) probably null Het
Sin3b G T 8: 73,468,147 (GRCm39) V290L probably benign Het
Sirt1 T C 10: 63,157,588 (GRCm39) T609A probably benign Het
Skint5 A T 4: 113,347,875 (GRCm39) S1289T unknown Het
Slc32a1 A T 2: 158,456,809 (GRCm39) H488L probably benign Het
Slc35b3 A G 13: 39,139,774 (GRCm39) S18P probably benign Het
Spaca7 T A 8: 12,636,501 (GRCm39) I109K possibly damaging Het
Tmem204 A G 17: 25,299,501 (GRCm39) L6P possibly damaging Het
Tubgcp6 G A 15: 88,991,645 (GRCm39) R651C probably damaging Het
Vps13b T A 15: 35,607,418 (GRCm39) L1117* probably null Het
Wdcp T C 12: 4,901,815 (GRCm39) L557P probably damaging Het
Wwp2 T C 8: 108,210,042 (GRCm39) F140S possibly damaging Het
Zfp429 C T 13: 67,538,043 (GRCm39) R467H possibly damaging Het
Zfp747l1 G T 7: 126,983,652 (GRCm39) H483Q possibly damaging Het
Zfp839 T A 12: 110,821,684 (GRCm39) M166K probably benign Het
Zfyve9 G A 4: 108,517,774 (GRCm39) Q1106* probably null Het
Zrsr2-ps1 T A 11: 22,924,158 (GRCm39) C311S 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
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
R8301:Nfs1 UTSW 2 155,976,413 (GRCm39) nonsense probably null
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'- CAGCCTACAATCCCTTTACACTCGG -3'
(R):5'- ACCTCCTGTTTACCTAGAGAGGCAC -3'

Sequencing Primer
(F):5'- GGGTTTCCGGCTGTATGAAC -3'
(R):5'- gtagccagagaatgcccc -3'
Posted On 2014-05-09