Incidental Mutation 'IGL02205:Afmid'
ID284442
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Afmid
Ensembl Gene ENSMUSG00000017718
Gene Namearylformamidase
Synonyms9030621K19Rik, formylkynureninase, formylase, kynurenine formamidase, Kf
Accession Numbers

Genbank: NM_027827; MGI: 2448704

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02205
Quality Score
Status
Chromosome11
Chromosomal Location117825924-117839908 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 117835156 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 150 (L150R)
Ref Sequence ENSEMBL: ENSMUSP00000119310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073388] [ENSMUST00000132298] [ENSMUST00000149668]
Predicted Effect probably damaging
Transcript: ENSMUST00000073388
AA Change: L158R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073102
Gene: ENSMUSG00000017718
AA Change: L158R

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: L150R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119310
Gene: ENSMUSG00000017718
AA Change: L150R

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd27 T G 7: 35,616,939 D543E probably damaging Het
Anks1b T G 10: 90,071,094 L258V probably benign Het
Cacna1i T C 15: 80,372,951 F1087S probably benign Het
Chd2 A T 7: 73,441,717 I1592K probably benign Het
Cmip G A 8: 117,454,975 V674I probably damaging Het
Col4a2 C T 8: 11,431,305 Q826* probably null Het
Ctdsp1 C T 1: 74,393,834 A92V possibly damaging Het
Dnajc10 T A 2: 80,349,358 S745R possibly damaging Het
Dpp4 T C 2: 62,352,257 Y560C probably damaging Het
Fbxl6 A G 15: 76,537,341 M232T probably benign Het
Gm5414 A G 15: 101,625,869 F267L probably benign Het
Heatr5a A G 12: 51,877,337 I2031T probably damaging Het
Hmcn2 T G 2: 31,400,127 V2324G probably damaging Het
Hnmt A T 2: 24,019,145 N85K probably damaging Het
Kcng4 G T 8: 119,626,083 R363S probably damaging Het
Kif18a T C 2: 109,307,018 probably benign Het
Lrrc8b A T 5: 105,481,837 Y683F probably benign Het
Mepce G T 5: 137,784,495 T523K probably benign Het
Mroh1 T C 15: 76,437,239 V1040A possibly damaging Het
Myof A G 19: 37,924,635 Y1470H probably damaging Het
Olfr469 A G 7: 107,822,591 Y293H probably damaging Het
Otol1 T C 3: 70,018,596 S35P probably benign Het
P4htm T C 9: 108,581,962 D257G probably benign Het
Pcdhb15 A G 18: 37,473,957 T81A probably damaging Het
Polg2 T C 11: 106,779,120 E108G probably benign Het
Rfx7 T A 9: 72,607,650 H143Q probably damaging Het
Sf3b2 A G 19: 5,283,737 V611A probably benign Het
Slc10a7 G T 8: 78,697,303 K203N probably benign Het
Slc12a5 T A 2: 164,996,479 V1046D probably benign Het
Tacc2 A T 7: 130,626,682 D1718V probably damaging Het
Unc79 T A 12: 103,079,001 I812N probably damaging Het
Vps13c A G 9: 67,883,454 Y338C probably damaging Het
Wdr17 T C 8: 54,696,300 Y31C probably damaging Het
Zfp654 A T 16: 64,785,966 N624K probably damaging Het
Other mutations in Afmid
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02159:Afmid APN 11 117836426 missense probably damaging 0.99
IGL02657:Afmid APN 11 117834822 missense possibly damaging 0.72
2107:Afmid UTSW 11 117835561 missense probably damaging 1.00
R0371:Afmid UTSW 11 117835140 splice site probably benign
R0907:Afmid UTSW 11 117835590 splice site probably benign
R0941:Afmid UTSW 11 117835245 splice site probably benign
R1915:Afmid UTSW 11 117835799 missense possibly damaging 0.96
R1975:Afmid UTSW 11 117836474 missense probably benign 0.07
R2034:Afmid UTSW 11 117835235 missense probably benign 0.07
R4064:Afmid UTSW 11 117836528 missense probably benign 0.00
R5386:Afmid UTSW 11 117828142 missense probably benign
R5815:Afmid UTSW 11 117835704 missense probably benign 0.17
R7075:Afmid UTSW 11 117835705 missense probably benign
R7185:Afmid UTSW 11 117834773 missense possibly damaging 0.66
R8016:Afmid UTSW 11 117835544 missense probably benign 0.00
Z1176:Afmid UTSW 11 117834966 missense probably benign 0.33
Posted On2015-04-16