Incidental Mutation '2107:Afmid'
ID 150
Institutional Source Beutler Lab
Gene Symbol Afmid
Ensembl Gene ENSMUSG00000017718
Gene Name arylformamidase
Synonyms formylkynureninase, formylase, 9030621K19Rik, Kf, kynurenine formamidase
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # 2107 of strain triaka
Quality Score
Status Validated
Chromosome 11
Chromosomal Location 117716750-117730734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 117726387 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Asparagine to Lysine at position 198 (N198K)
Ref Sequence ENSEMBL: ENSMUSP00000119310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073388] [ENSMUST00000132298] [ENSMUST00000149668]
AlphaFold Q8K4H1
Predicted Effect probably damaging
Transcript: ENSMUST00000073388
AA Change: N206K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073102
Gene: ENSMUSG00000017718
AA Change: N206K

DomainStartEndE-ValueType
Pfam:COesterase 34 139 1.1e-6 PFAM
Pfam:Abhydrolase_5 88 280 4.1e-12 PFAM
Pfam:Abhydrolase_3 89 283 7.8e-19 PFAM
Pfam:Peptidase_S9 106 296 1e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131268
Predicted Effect probably benign
Transcript: ENSMUST00000132298
SMART Domains Protein: ENSMUSP00000135368
Gene: ENSMUSG00000093485

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
low complexity region 34 43 N/A INTRINSIC
low complexity region 90 102 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148016
Predicted Effect probably damaging
Transcript: ENSMUST00000149668
AA Change: N198K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119310
Gene: ENSMUSG00000017718
AA Change: N198K

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 80 272 9.1e-12 PFAM
Pfam:Abhydrolase_3 81 273 1.7e-17 PFAM
Pfam:Peptidase_S9 101 287 2.7e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153850
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 86.3%
  • 3x: 63.7%
Validation Efficiency 80% (79/99)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit polydipsia, polyuria and hyperglycemia. Mice homozygous for a full exon 2 deletion show impaired glucose tolerance due to reduced insulin secretion associated with reduced islet mass. [provided by MGI curators]
Allele List at MGI

All alleles(15) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(12)

Other mutations in this stock
Total: 6 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Fam184a T C 10: 53,517,153 (GRCm39) E374G probably damaging Homo
Mypn C T 10: 63,039,530 (GRCm39) probably benign Homo
Nme7 T A 1: 164,172,922 (GRCm39) I211N possibly damaging Het
Tmod4 G A 3: 95,037,479 (GRCm39) probably null Homo
Wfs1 C T 5: 37,124,617 (GRCm39) R758H probably damaging Het
Zfp112 T C 7: 23,826,266 (GRCm39) C745R probably damaging Het
Other mutations in Afmid
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02159:Afmid APN 11 117,727,252 (GRCm39) missense probably damaging 0.99
IGL02205:Afmid APN 11 117,725,982 (GRCm39) missense probably damaging 1.00
IGL02657:Afmid APN 11 117,725,648 (GRCm39) missense possibly damaging 0.72
R0371:Afmid UTSW 11 117,725,966 (GRCm39) splice site probably benign
R0907:Afmid UTSW 11 117,726,416 (GRCm39) splice site probably benign
R0941:Afmid UTSW 11 117,726,071 (GRCm39) splice site probably benign
R1915:Afmid UTSW 11 117,726,625 (GRCm39) missense possibly damaging 0.96
R1975:Afmid UTSW 11 117,727,300 (GRCm39) missense probably benign 0.07
R2034:Afmid UTSW 11 117,726,061 (GRCm39) missense probably benign 0.07
R4064:Afmid UTSW 11 117,727,354 (GRCm39) missense probably benign 0.00
R5386:Afmid UTSW 11 117,718,968 (GRCm39) missense probably benign
R5815:Afmid UTSW 11 117,726,530 (GRCm39) missense probably benign 0.17
R7075:Afmid UTSW 11 117,726,531 (GRCm39) missense probably benign
R7185:Afmid UTSW 11 117,725,599 (GRCm39) missense possibly damaging 0.66
R8016:Afmid UTSW 11 117,726,370 (GRCm39) missense probably benign 0.00
R8835:Afmid UTSW 11 117,718,914 (GRCm39) missense probably benign 0.14
R9023:Afmid UTSW 11 117,726,349 (GRCm39) missense probably damaging 0.99
R9028:Afmid UTSW 11 117,727,489 (GRCm39) missense probably benign 0.00
Z1176:Afmid UTSW 11 117,725,792 (GRCm39) missense probably benign 0.33
Nature of Mutation
DNA sequencing using the SOLiD technique identified a T to A transversion at position 649 of the Afmid transcript. Multiple transcripts of the Afmid gene are displayed on Ensembl. The mutated nucleotide causes an asparagine to lysine substitution at amino acid 206 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Afmid gene encodes a 305 amino acid enzyme that catalyzes the hydrolysis of N-formyl-L-kynurenine to L-kynurenine, the second step in the conversion of tryptophan to nicotinic acid, NAD(H) and NADP(H). This protein is required for elimination of toxic metabolites, and is highly expressed in the liver and in the kidney. Mice carrying a targeted knockout of the gene display sclerosis of kidney glomeruli, possibly due to failures in the elimination of toxic metabolites. (Uniprot Q8K4H1).
 
The N206K change is predicted to be probably damaging by the PolyPhen program.
Posted On 2010-03-22