Incidental Mutation 'IGL03350:Nfs1'
ID419662
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: 0.966) question?
Stock #IGL03350
Quality Score
Status
Chromosome2
Chromosomal Location156123639-156144186 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 156127740 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 329 (E329G)
Ref Sequence ENSEMBL: ENSMUSP00000029147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029147] [ENSMUST00000184469]
Predicted Effect probably benign
Transcript: ENSMUST00000029147
AA Change: E329G

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000029147
Gene: ENSMUSG00000027618
AA Change: E329G

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4922502D21Rik C A 6: 129,331,023 V28L probably benign Het
Adam26a A T 8: 43,569,552 Y300* probably null Het
Adgre1 T A 17: 57,401,908 V33E probably benign Het
AI987944 A G 7: 41,393,237 probably benign Het
Atp4a T C 7: 30,720,867 L813P probably damaging Het
Blmh A G 11: 76,971,948 N396D probably damaging Het
Brat1 T C 5: 140,705,995 L9P probably damaging Het
Ccdc171 T C 4: 83,681,378 I810T possibly damaging Het
Cyp2a22 T C 7: 26,934,854 T292A possibly damaging Het
Ecm2 C T 13: 49,520,944 T280I probably benign Het
Fa2h C T 8: 111,349,296 V232I probably benign Het
Fbxw24 T C 9: 109,607,013 D317G probably damaging Het
Flt4 C A 11: 49,634,793 S722* probably null Het
Fryl T C 5: 73,133,306 Q85R probably damaging Het
Gm3239 A G 14: 4,667,115 R188G possibly damaging Het
Hspa13 A T 16: 75,757,829 S456R probably damaging Het
Htr1b T C 9: 81,632,122 Y144C probably damaging Het
Hydin A G 8: 110,312,224 H198R possibly damaging Het
Krt78 A T 15: 101,946,517 M953K probably benign Het
Lgr5 G T 10: 115,471,988 T255K probably damaging Het
Lrp2 T A 2: 69,438,453 D4162V probably damaging Het
Map3k2 A G 18: 32,212,148 D342G probably damaging Het
Miip A G 4: 147,862,522 V258A probably benign Het
Muc6 T C 7: 141,652,059 H52R probably damaging Het
Npsr1 T C 9: 24,098,309 V37A probably benign Het
Olfr1107 A C 2: 87,071,560 D191E probably damaging Het
Olfr23 A T 11: 73,940,838 L197F probably damaging Het
Olfr356 T C 2: 36,937,583 Y155H probably damaging Het
Pex16 T A 2: 92,377,497 M98K probably damaging Het
Pla2r1 C T 2: 60,455,173 C699Y probably damaging Het
Plcd4 A T 1: 74,549,301 D103V probably damaging Het
Pnpla1 A G 17: 28,876,992 D129G probably damaging Het
Rad23a T C 8: 84,837,479 E265G possibly damaging Het
Rbm11 C T 16: 75,600,808 P209S probably benign Het
Ribc2 T A 15: 85,135,502 W162R probably damaging Het
Rnf4 A G 5: 34,346,860 E32G possibly damaging Het
Rpe65 A T 3: 159,614,517 S269C possibly damaging Het
Slc7a14 T A 3: 31,237,409 Y240F probably benign Het
Sorbs2 C T 8: 45,805,807 P1047L probably damaging Het
Ttn T C 2: 76,749,822 I23576V probably damaging Het
Usp24 T G 4: 106,371,079 Y780* probably null Het
Wee2 T C 6: 40,449,731 S145P probably damaging Het
Zcchc7 A G 4: 44,931,188 T126A probably benign Het
Zpld1 A G 16: 55,241,329 probably benign Het
Zufsp G A 10: 33,928,111 R456C probably benign Het
Other mutations in Nfs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02318:Nfs1 APN 2 156124271 missense probably damaging 1.00
IGL02944:Nfs1 APN 2 156127768 missense probably damaging 1.00
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
R7267:Nfs1 UTSW 2 156123783 missense probably benign 0.12
R7400:Nfs1 UTSW 2 156126323 missense probably damaging 1.00
R7886:Nfs1 UTSW 2 156142061 missense unknown
R8301:Nfs1 UTSW 2 156134493 nonsense probably null
Posted On2016-08-02