Incidental Mutation 'IGL01755:Azgp1'
ID 153191
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Azgp1
Ensembl Gene ENSMUSG00000037053
Gene Name alpha-2-glycoprotein 1, zinc
Synonyms Zag
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL01755
Quality Score
Status
Chromosome 5
Chromosomal Location 137979783-137988495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 137988109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 297 (K297M)
Ref Sequence ENSEMBL: ENSMUSP00000038559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035390] [ENSMUST00000197571]
AlphaFold Q64726
Predicted Effect possibly damaging
Transcript: ENSMUST00000035390
AA Change: K297M

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038559
Gene: ENSMUSG00000037053
AA Change: K297M

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:MHC_I 21 196 2.7e-63 PFAM
Pfam:C1-set 208 291 2.2e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000072718
Predicted Effect probably benign
Transcript: ENSMUST00000197571
SMART Domains Protein: ENSMUSP00000142385
Gene: ENSMUSG00000037053

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199145
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired lipolysis and increased body weight when fed standard food or a high fat diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf6 A G 1: 170,616,180 (GRCm39) I520T possibly damaging Het
Cyp2e1 A G 7: 140,354,469 (GRCm39) probably null Het
Dapk1 C A 13: 60,908,989 (GRCm39) L1201M probably damaging Het
Dapk1 T A 13: 60,908,990 (GRCm39) L1201Q possibly damaging Het
Insrr A T 3: 87,721,493 (GRCm39) D1133V probably damaging Het
Kcnc4 T C 3: 107,355,491 (GRCm39) N319S probably damaging Het
Kctd1 A G 18: 15,195,694 (GRCm39) C310R possibly damaging Het
Nefl A G 14: 68,323,526 (GRCm39) D384G probably damaging Het
Nfatc3 A G 8: 106,854,553 (GRCm39) N1029S probably benign Het
Nup107 T C 10: 117,610,398 (GRCm39) Y348C probably damaging Het
Or5b117 T C 19: 13,431,179 (GRCm39) K234R probably damaging Het
Or5w8 T A 2: 87,687,854 (GRCm39) C112S possibly damaging Het
Phf8-ps T A 17: 33,285,951 (GRCm39) N284Y probably damaging Het
Phldb2 T C 16: 45,645,945 (GRCm39) E212G probably damaging Het
Pirb A T 7: 3,720,169 (GRCm39) N401K probably benign Het
Plcg2 T C 8: 118,347,980 (GRCm39) F1183S possibly damaging Het
Plekhf2 A T 4: 10,991,308 (GRCm39) N11K probably damaging Het
Slc7a11 A G 3: 50,378,516 (GRCm39) Y241H probably benign Het
Sltm T G 9: 70,491,204 (GRCm39) probably null Het
Taf4b A G 18: 15,031,042 (GRCm39) T809A probably benign Het
Taf4b C A 18: 15,031,043 (GRCm39) T809N probably benign Het
Tesk1 T C 4: 43,445,820 (GRCm39) probably null Het
Tspan8 C T 10: 115,671,203 (GRCm39) T120M probably damaging Het
Ttn T G 2: 76,551,727 (GRCm39) D31275A probably damaging Het
Vcl C A 14: 21,046,038 (GRCm39) Q334K probably damaging Het
Zfp94 G A 7: 24,010,906 (GRCm39) probably benign Het
Zkscan17 A G 11: 59,378,241 (GRCm39) F314S probably damaging Het
Other mutations in Azgp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01990:Azgp1 APN 5 137,987,997 (GRCm39) missense probably damaging 1.00
IGL03396:Azgp1 APN 5 137,983,445 (GRCm39) missense possibly damaging 0.72
R1605:Azgp1 UTSW 5 137,983,426 (GRCm39) nonsense probably null
R1802:Azgp1 UTSW 5 137,983,493 (GRCm39) missense probably damaging 1.00
R4742:Azgp1 UTSW 5 137,987,888 (GRCm39) nonsense probably null
R5104:Azgp1 UTSW 5 137,985,815 (GRCm39) missense probably damaging 1.00
R6246:Azgp1 UTSW 5 137,983,475 (GRCm39) missense possibly damaging 0.95
R7659:Azgp1 UTSW 5 137,985,775 (GRCm39) missense probably damaging 0.99
R7904:Azgp1 UTSW 5 137,985,869 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04