Incidental Mutation 'R0118:Nfs1'
ID 20908
Institutional Source Beutler Lab
Gene Symbol Nfs1
Ensembl Gene ENSMUSG00000027618
Gene Name nitrogen fixation gene 1 (S. cerevisiae)
Synonyms m-Nfs1
MMRRC Submission 038404-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R0118 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 2
Chromosomal Location 155965559-155986106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155976444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 150 (H150R)
Ref Sequence ENSEMBL: ENSMUSP00000029147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029147] [ENSMUST00000184469]
AlphaFold Q9Z1J3
Predicted Effect probably damaging
Transcript: ENSMUST00000029147
AA Change: H150R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029147
Gene: ENSMUSG00000027618
AA Change: H150R

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 noncoding transcript
Transcript: ENSMUST00000125449
Predicted Effect probably damaging
Transcript: ENSMUST00000184469
AA Change: H39R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139294
Gene: ENSMUSG00000027618
AA Change: H39R

DomainStartEndE-ValueType
Pfam:Aminotran_5 1 81 2.3e-10 PFAM
Meta Mutation Damage Score 0.8878 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.2%
  • 10x: 89.3%
  • 20x: 67.4%
Validation Efficiency 98% (50/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 T C 9: 30,823,040 (GRCm39) R343G probably damaging Het
Asxl2 T G 12: 3,546,923 (GRCm39) V569G probably damaging Het
Azin2 A C 4: 128,843,430 (GRCm39) H85Q probably damaging Het
Cacna1a C T 8: 85,262,712 (GRCm39) R324C probably damaging Het
Ccr3 C A 9: 123,829,647 (GRCm39) Y327* probably null Het
Cers2 T C 3: 95,227,537 (GRCm39) F55S probably benign Het
Cic C T 7: 24,985,459 (GRCm39) S301L probably damaging Het
Cntnap2 T C 6: 45,037,326 (GRCm39) probably null Het
Cpn2 T C 16: 30,079,186 (GRCm39) R172G probably benign Het
Ctdnep1 T C 11: 69,879,557 (GRCm39) probably null Het
Dennd3 T A 15: 73,436,925 (GRCm39) Y1051N probably damaging Het
Dmap1 T G 4: 117,533,680 (GRCm39) Y196S probably damaging Het
Entpd7 G A 19: 43,692,751 (GRCm39) W102* probably null Het
Frem2 A T 3: 53,442,664 (GRCm39) C2624* probably null Het
Gdpd3 A G 7: 126,370,165 (GRCm39) Y238C probably damaging Het
Gjb3 A G 4: 127,220,451 (GRCm39) V27A probably damaging Het
Kat6b T C 14: 21,720,042 (GRCm39) F1465L probably damaging Het
Klra17 A T 6: 129,808,552 (GRCm39) M227K probably benign Het
Map6 A G 7: 98,966,824 (GRCm39) D348G possibly damaging Het
Mapkbp1 T C 2: 119,855,696 (GRCm39) S1472P probably benign Het
Megf6 C A 4: 154,339,098 (GRCm39) P545Q probably damaging Het
Mertk C T 2: 128,601,086 (GRCm39) R357W probably damaging Het
Mesd T A 7: 83,544,835 (GRCm39) I104N probably damaging Het
Mrm3 T A 11: 76,140,781 (GRCm39) V263E possibly damaging Het
Ndst4 T A 3: 125,405,210 (GRCm39) Y488* probably null Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Odad3 A T 9: 21,906,353 (GRCm39) N224K probably benign Het
Or1n1b A G 2: 36,780,035 (GRCm39) M275T probably benign Het
Or8b56 T C 9: 38,739,154 (GRCm39) S50P possibly damaging Het
Or8g19 T A 9: 39,055,399 (GRCm39) M1K probably null Het
Or9q1 A G 19: 13,804,929 (GRCm39) F277S possibly damaging Het
Pcdh8 T C 14: 80,004,848 (GRCm39) Y1059C probably damaging Het
Pik3r5 T A 11: 68,381,306 (GRCm39) L164Q probably damaging Het
Polr3g T C 13: 81,824,240 (GRCm39) probably benign Het
Ppm1e T A 11: 87,122,564 (GRCm39) K464N probably benign Het
Rims1 T C 1: 22,416,631 (GRCm39) T1037A probably damaging Het
Rpgrip1l A T 8: 91,996,750 (GRCm39) I108N probably damaging Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Spem1 T C 11: 69,712,371 (GRCm39) K98E possibly damaging Het
St7l T C 3: 104,796,619 (GRCm39) V237A probably damaging Het
Tbc1d16 T C 11: 119,048,642 (GRCm39) H337R probably damaging Het
Tbc1d32 T A 10: 55,893,701 (GRCm39) I1291F probably benign Het
Tnfaip6 G T 2: 51,933,827 (GRCm39) E61* probably null Het
Trib2 A T 12: 15,843,929 (GRCm39) W102R probably damaging Het
Uimc1 G T 13: 55,233,457 (GRCm39) N66K probably damaging Het
Vmn1r63 T A 7: 5,805,838 (GRCm39) T265S probably benign Het
Vps35 G A 8: 86,021,582 (GRCm39) T3I probably benign Het
Yeats2 T A 16: 19,975,692 (GRCm39) L63* probably null Het
Zfp282 A G 6: 47,869,866 (GRCm39) R304G probably benign 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
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
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'- ACTGATCAACCTTTAGGCTCCACCC -3'
(R):5'- GCCTTGGTCTGTCACATGAAACGTC -3'

Sequencing Primer
(F):5'- TTTAGGCTCCACCCAAAACTGG -3'
(R):5'- GAAACGTCTTCAGCGTACTTG -3'
Posted On 2013-04-11