Incidental Mutation 'R7886:Nfs1'
ID 609044
Institutional Source Beutler Lab
Gene Symbol Nfs1
Ensembl Gene ENSMUSG00000027618
Gene Name nitrogen fixation gene 1 (S. cerevisiae)
Synonyms m-Nfs1
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R7886 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 156123639-156144186 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 156142061 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 132 (D132V)
Ref Sequence ENSEMBL: ENSMUSP00000105229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029147] [ENSMUST00000088610] [ENSMUST00000109597] [ENSMUST00000109598] [ENSMUST00000109600] [ENSMUST00000119950] [ENSMUST00000184469]
AlphaFold Q9Z1J3
Predicted Effect probably benign
Transcript: ENSMUST00000029147
SMART Domains Protein: ENSMUSP00000029147
Gene: ENSMUSG00000027618

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: ENSMUST00000088610
SMART Domains Protein: ENSMUSP00000085981
Gene: ENSMUSG00000067847

DomainStartEndE-ValueType
Pfam:Romo1 13 79 2e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109597
SMART Domains Protein: ENSMUSP00000105226
Gene: ENSMUSG00000067847

DomainStartEndE-ValueType
Pfam:Romo1 13 79 2e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109598
SMART Domains Protein: ENSMUSP00000105227
Gene: ENSMUSG00000067847

DomainStartEndE-ValueType
Romo1 13 79 1.34e-31 SMART
Predicted Effect unknown
Transcript: ENSMUST00000109600
AA Change: D132V
SMART Domains Protein: ENSMUSP00000105229
Gene: ENSMUSG00000027618
AA Change: D132V

DomainStartEndE-ValueType
low complexity region 10 31 N/A INTRINSIC
Pfam:Aminotran_5 61 118 3.5e-12 PFAM
low complexity region 138 147 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119950
SMART Domains Protein: ENSMUSP00000113943
Gene: ENSMUSG00000067847

DomainStartEndE-ValueType
Pfam:Romo1 13 79 2e-30 PFAM
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (53/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik T G 6: 92,834,456 I130S unknown Het
Ano5 A G 7: 51,570,393 H427R probably benign Het
Atad2 A T 15: 58,126,136 V182E probably damaging Het
B4galnt1 T C 10: 127,167,054 Y147H probably damaging Het
C1s2 T C 6: 124,628,330 S349G possibly damaging Het
Ccdc51 G T 9: 109,091,587 A181S probably damaging Het
Dcc G A 18: 71,954,868 Q100* probably null Het
Dchs2 A T 3: 83,305,085 I2064F probably damaging Het
Depdc1a G A 3: 159,516,069 V217I probably benign Het
Dnajc7 A T 11: 100,601,803 F31I probably benign Het
Eftud2 C T 11: 102,840,108 R825H probably damaging Het
Fam184a T C 10: 53,675,160 E237G probably damaging Het
Fdx1l A T 9: 21,073,327 probably null Het
Frem1 T C 4: 83,016,406 D106G possibly damaging Het
Gabrg3 G A 7: 56,724,481 R446W probably damaging Het
Gm42669 A G 5: 107,508,706 E362G Het
Hmcn1 A T 1: 150,657,470 I3022N possibly damaging Het
Ifna2 C A 4: 88,683,269 V171F probably damaging Het
Igsf10 T C 3: 59,328,327 N1478D probably benign Het
Kcnc1 C A 7: 46,427,621 D282E probably damaging Het
Klhdc2 G A 12: 69,304,632 probably null Het
Macrod2 G A 2: 141,724,645 G188S probably damaging Het
Mapkbp1 T C 2: 120,012,647 F186L possibly damaging Het
Mettl21a T C 1: 64,615,184 E58G probably damaging Het
Muc16 A T 9: 18,585,982 C6625S probably benign Het
Naip5 A T 13: 100,246,181 S7T probably benign Het
Nlgn1 T C 3: 25,435,907 D552G probably damaging Het
Numa1 C T 7: 102,013,865 T2066I probably benign Het
Olfr1355 A G 10: 78,879,823 Y217C possibly damaging Het
Olfr330 C A 11: 58,529,054 V311L probably benign Het
Olfr370 T C 8: 83,541,947 S268P possibly damaging Het
Olfr730 A T 14: 50,186,564 Y219N probably damaging Het
Olfr847 A T 9: 19,375,906 probably null Het
Pde11a C T 2: 76,291,203 V345I probably benign Het
Pglyrp2 A G 17: 32,418,761 S98P possibly damaging Het
Pik3c3 C T 18: 30,319,588 Q643* probably null Het
Pold2 T C 11: 5,872,714 Y402C probably damaging Het
Pom121 T C 5: 135,381,994 T770A unknown Het
Pou4f1 A T 14: 104,466,792 V68E probably damaging Het
Ppfia1 G T 7: 144,519,283 Q265K probably benign Het
Pygl A G 12: 70,206,356 probably null Het
Rdh19 A G 10: 127,850,300 T94A probably benign Het
Scgb1b12 A G 7: 32,334,497 T61A probably damaging Het
Sirpb1c C T 3: 15,832,202 A337T probably benign Het
Sltm C G 9: 70,586,673 P802R possibly damaging Het
Tbc1d23 T C 16: 57,189,383 E381G possibly damaging Het
Tnik A G 3: 28,666,139 I1304V probably damaging Het
Tpmt C A 13: 47,040,162 G54C probably damaging Het
Usp25 A T 16: 77,113,771 Q905L probably damaging Het
Vmn1r91 T A 7: 20,101,565 N136K probably benign Het
Wdr70 C T 15: 8,079,249 E138K probably benign Het
Wrb T A 16: 96,145,568 L31Q possibly damaging Het
Zbed3 A G 13: 95,336,125 D19G possibly damaging Het
Zfp369 A G 13: 65,292,054 K184R possibly damaging 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
IGL03350:Nfs1 APN 2 156127740 missense probably benign 0.37
lantana UTSW 2 156134449 missense possibly damaging 0.94
G1Funyon:Nfs1 UTSW 2 156134493 nonsense probably null
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
R8301:Nfs1 UTSW 2 156134493 nonsense probably null
R8729:Nfs1 UTSW 2 156123807 missense probably benign 0.20
R8905:Nfs1 UTSW 2 156128583 missense probably damaging 0.96
R9099:Nfs1 UTSW 2 156127014 missense probably damaging 1.00
R9417:Nfs1 UTSW 2 156123931 nonsense probably null
R9661:Nfs1 UTSW 2 156128553 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCCCATTGACCCGCGAAATG -3'
(R):5'- TTCTGTTCAGGATCCCAGAGTG -3'

Sequencing Primer
(F):5'- AGTGTTAACCTTACGAGCACTGC -3'
(R):5'- ATCCCAGAGTGCTTGATGC -3'
Posted On 2019-12-20