Incidental Mutation 'IGL02944:Nfs1'
ID364649
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfs1
Ensembl Gene ENSMUSG00000027618
Gene Namenitrogen fixation gene 1 (S. cerevisiae)
Synonymsm-Nfs1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.975) question?
Stock #IGL02944
Quality Score
Status
Chromosome2
Chromosomal Location156123639-156144186 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 156127768 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 320 (D320N)
Ref Sequence ENSEMBL: ENSMUSP00000029147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029147] [ENSMUST00000184469]
Predicted Effect probably damaging
Transcript: ENSMUST00000029147
AA Change: D320N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029147
Gene: ENSMUSG00000027618
AA Change: D320N

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 benign
Transcript: ENSMUST00000159952
SMART Domains Protein: ENSMUSP00000124101
Gene: ENSMUSG00000098950

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 benign
Transcript: ENSMUST00000160165
SMART Domains Protein: ENSMUSP00000124858
Gene: ENSMUSG00000098950

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

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,608,657 Q343R probably benign Het
Antxr1 T A 6: 87,188,159 N432I possibly damaging Het
Arhgap15 T C 2: 44,142,350 probably null Het
Atp6v1h T A 1: 5,093,355 probably benign Het
Cav2 T C 6: 17,281,457 Y33H probably damaging Het
Ccdc175 T A 12: 72,117,893 D585V probably benign Het
Coro7 T C 16: 4,635,412 D271G probably benign Het
Cylc1 T A X: 111,123,604 D551E possibly damaging Het
Dnah1 A T 14: 31,300,871 I1103N possibly damaging Het
Gm44 A G X: 90,892,262 K41E probably benign Het
Gmds T A 13: 32,338,452 Y11F probably benign Het
Igkv13-54-1 C T 6: 69,617,390 noncoding transcript Het
Irf8 A G 8: 120,755,125 T318A probably benign Het
Lrrc40 G A 3: 158,041,665 probably benign Het
Mbd1 G A 18: 74,277,410 G428E probably damaging Het
Myom2 A T 8: 15,104,065 probably null Het
Nav2 C T 7: 49,420,256 R287W probably damaging Het
Nlrp9a A T 7: 26,558,651 T565S probably benign Het
Nod1 A T 6: 54,924,947 I951N possibly damaging Het
Olfr353 T G 2: 36,890,788 E20A possibly damaging Het
Olfr675 A G 7: 105,024,923 L19P probably damaging Het
Olfr694 A G 7: 106,689,269 L154P probably damaging Het
Olfr924 A T 9: 38,848,752 I213F possibly damaging Het
Pkhd1l1 T C 15: 44,501,531 Y689H probably damaging Het
Ppp2r5c A G 12: 110,567,800 I366V probably benign Het
Ppp3cb T C 14: 20,528,235 Y149C probably damaging Het
Prdm1 T C 10: 44,441,811 S354G probably benign Het
Ralgapa1 T A 12: 55,757,951 Q520L probably benign Het
Slc25a54 A T 3: 109,080,615 Y24F probably benign Het
Slfn3 T A 11: 83,213,011 V236E probably damaging Het
Syt6 A G 3: 103,575,549 probably benign Het
Trim30a G T 7: 104,435,777 N75K probably benign Het
Vmn1r175 T C 7: 23,809,166 E12G probably damaging Het
Xylt1 A T 7: 117,634,757 T504S probably benign Het
Other mutations in Nfs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02318:Nfs1 APN 2 156124271 missense probably damaging 1.00
IGL03350:Nfs1 APN 2 156127740 missense probably benign 0.37
R0118:Nfs1 UTSW 2 156134524 missense probably damaging 1.00
R0374:Nfs1 UTSW 2 156132660 missense probably damaging 1.00
R1653:Nfs1 UTSW 2 156125336 missense probably damaging 1.00
R3787:Nfs1 UTSW 2 156128583 missense possibly damaging 0.53
R4614:Nfs1 UTSW 2 156144050 missense probably benign 0.04
R4782:Nfs1 UTSW 2 156134449 missense possibly damaging 0.94
R4799:Nfs1 UTSW 2 156134449 missense possibly damaging 0.94
R5053:Nfs1 UTSW 2 156126398 missense probably damaging 0.99
R5447:Nfs1 UTSW 2 156142136 missense probably benign 0.01
R5479:Nfs1 UTSW 2 156128502 missense probably damaging 1.00
R5992:Nfs1 UTSW 2 156134453 missense probably damaging 0.98
Posted On2015-12-18