Incidental Mutation 'IGL02657:Afmid'
ID 302365
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02657
Quality Score
Status
Chromosome 11
Chromosomal Location 117716750-117730734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 117725648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 120 (V120M)
Ref Sequence ENSEMBL: ENSMUSP00000073102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073388] [ENSMUST00000132298] [ENSMUST00000149668]
AlphaFold Q8K4H1
Predicted Effect possibly damaging
Transcript: ENSMUST00000073388
AA Change: V120M

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000073102
Gene: ENSMUSG00000017718
AA Change: V120M

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 possibly damaging
Transcript: ENSMUST00000149668
AA Change: V112M

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000119310
Gene: ENSMUSG00000017718
AA Change: V112M

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
Coding Region Coverage
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l1 T C 6: 90,567,776 (GRCm39) L680P probably damaging Het
Alox12 A T 11: 70,138,104 (GRCm39) D410E probably benign Het
Amt T A 9: 108,178,579 (GRCm39) V365E probably damaging Het
Ano9 A G 7: 140,687,353 (GRCm39) S321P probably damaging Het
Atp2c2 A T 8: 120,479,771 (GRCm39) I767F probably damaging Het
Bag1 A T 4: 40,936,643 (GRCm39) Y338N probably benign Het
Bcr T A 10: 74,990,796 (GRCm39) D767E probably benign Het
Chfr A T 5: 110,302,705 (GRCm39) Q350L probably damaging Het
Cops3 A T 11: 59,721,043 (GRCm39) L124H probably damaging Het
Ddx60 T C 8: 62,437,149 (GRCm39) Y988H probably benign Het
Dnajc2 A T 5: 21,975,479 (GRCm39) probably benign Het
Dym C T 18: 75,215,527 (GRCm39) Q238* probably null Het
Fbn1 A T 2: 125,193,945 (GRCm39) C1341S possibly damaging Het
Fryl G T 5: 73,212,203 (GRCm39) N2308K probably benign Het
Gbp2b G T 3: 142,309,873 (GRCm39) R221L probably damaging Het
Gpat2 A G 2: 127,269,251 (GRCm39) N8S probably benign Het
Gvin2 T C 7: 105,545,972 (GRCm39) K2360R probably damaging Het
Hycc2 A T 1: 58,574,561 (GRCm39) W327R probably damaging Het
Ift52 A G 2: 162,887,135 (GRCm39) D379G probably damaging Het
Inhbe C A 10: 127,186,645 (GRCm39) L178F probably damaging Het
Ipo5 T C 14: 121,181,212 (GRCm39) Y913H possibly damaging Het
Kif21b T A 1: 136,099,968 (GRCm39) D1507E possibly damaging Het
Lnx2 A G 5: 146,964,984 (GRCm39) V413A probably damaging Het
Lrrc40 C A 3: 157,742,410 (GRCm39) F16L probably damaging Het
Magi2 A G 5: 19,432,581 (GRCm39) K99E probably damaging Het
Me3 A G 7: 89,495,461 (GRCm39) I357M probably benign Het
Med30 A G 15: 52,582,761 (GRCm39) Y66C probably benign Het
Mief2 A T 11: 60,621,783 (GRCm39) S118C probably damaging Het
Mylip A G 13: 45,544,722 (GRCm39) S49G probably benign Het
Ncoa7 T A 10: 30,528,972 (GRCm39) D107V probably damaging Het
Nvl C A 1: 180,934,541 (GRCm39) V655F probably damaging Het
Olfml2b C T 1: 170,508,645 (GRCm39) T501I probably benign Het
Ormdl2 T C 10: 128,656,186 (GRCm39) I40V probably benign Het
Pde6b G T 5: 108,568,142 (GRCm39) probably benign Het
Ralgapa1 A C 12: 55,720,292 (GRCm39) L1785W probably damaging Het
Rnf112 A T 11: 61,341,078 (GRCm39) probably null Het
Sema3c A T 5: 17,781,866 (GRCm39) M1L possibly damaging Het
Sema3c T A 5: 17,867,972 (GRCm39) Y128N probably damaging Het
Sema4b G A 7: 79,866,789 (GRCm39) G255D probably damaging Het
Setd1a C T 7: 127,394,997 (GRCm39) probably benign Het
Sirpb1a A C 3: 15,482,111 (GRCm39) S72R possibly damaging Het
Slu7 T A 11: 43,332,849 (GRCm39) probably null Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Suclg1 T A 6: 73,237,504 (GRCm39) V83E probably damaging Het
Syncrip G T 9: 88,338,457 (GRCm39) R536S probably benign Het
Tap2 T C 17: 34,424,432 (GRCm39) V55A probably damaging Het
Tekt4 T C 17: 25,692,732 (GRCm39) I186T possibly damaging Het
Trpc6 C A 9: 8,643,602 (GRCm39) D462E possibly damaging Het
Ubqln3 T G 7: 103,791,170 (GRCm39) T307P probably damaging Het
Vmn1r64 A T 7: 5,886,727 (GRCm39) I272K probably benign Het
Xpr1 T C 1: 155,166,026 (GRCm39) T574A probably benign Het
Zfc3h1 A G 10: 115,247,859 (GRCm39) T1021A possibly damaging Het
Zfp512 A T 5: 31,628,501 (GRCm39) H159L 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
2107:Afmid UTSW 11 117,726,387 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16