Incidental Mutation 'IGL01990:Azgp1'
ID 182030
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: 0.052) question?
Stock # IGL01990
Quality Score
Status
Chromosome 5
Chromosomal Location 137979783-137988495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 137987997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 260 (W260R)
Ref Sequence ENSEMBL: ENSMUSP00000038559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035390] [ENSMUST00000197571]
AlphaFold Q64726
Predicted Effect probably damaging
Transcript: ENSMUST00000035390
AA Change: W260R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038559
Gene: ENSMUSG00000037053
AA Change: W260R

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 A G 17: 33,653,068 (GRCm39) N376S probably benign Het
Adgrv1 T C 13: 81,705,115 (GRCm39) D1565G probably damaging Het
Atf5 T G 7: 44,462,473 (GRCm39) D217A probably damaging Het
Cnr2 C T 4: 135,644,116 (GRCm39) R65C probably damaging Het
Col14a1 A G 15: 55,226,859 (GRCm39) Y203C unknown Het
Colec11 A G 12: 28,644,985 (GRCm39) Y170H probably benign Het
Exosc10 A G 4: 148,650,867 (GRCm39) Q471R possibly damaging Het
Gal3st1 G T 11: 3,948,741 (GRCm39) W316L probably damaging Het
Igfbp3 C A 11: 7,158,504 (GRCm39) R253L probably damaging Het
Kcnb2 A T 1: 15,383,178 (GRCm39) D168V probably benign Het
Khnyn T G 14: 56,125,045 (GRCm39) I433S possibly damaging Het
Naaa T A 5: 92,415,922 (GRCm39) T193S possibly damaging Het
Nsun7 G A 5: 66,418,416 (GRCm39) D49N probably damaging Het
Pappa T C 4: 65,074,924 (GRCm39) probably benign Het
Pfkfb2 A G 1: 130,633,107 (GRCm39) probably benign Het
Pkd1l3 C T 8: 110,387,438 (GRCm39) T1794I probably damaging Het
Prex2 A C 1: 11,193,457 (GRCm39) probably benign Het
Slc2a7 T G 4: 150,239,141 (GRCm39) I122S possibly damaging Het
Slc31a2 A G 4: 62,214,207 (GRCm39) K53E probably benign Het
Slc35f4 C T 14: 49,541,626 (GRCm39) probably null Het
Slc38a7 C T 8: 96,571,590 (GRCm39) W213* probably null Het
Slc5a4b T C 10: 75,896,188 (GRCm39) E589G probably benign Het
Syne2 A G 12: 76,101,707 (GRCm39) N5407S probably damaging Het
Tgm2 A T 2: 157,966,051 (GRCm39) D534E probably benign Het
Ugt1a7c A G 1: 88,023,324 (GRCm39) Y161C probably damaging Het
Vmn2r114 A G 17: 23,529,355 (GRCm39) M249T probably benign Het
Xkr9 A G 1: 13,771,203 (GRCm39) I240V probably benign Het
Zfat A G 15: 68,096,666 (GRCm39) L49P probably damaging Het
Zfhx2 G T 14: 55,311,047 (GRCm39) P549H probably damaging Het
Zfp551 C T 7: 12,156,343 (GRCm39) V25M possibly damaging Het
Other mutations in Azgp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01755:Azgp1 APN 5 137,988,109 (GRCm39) missense possibly damaging 0.90
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 2014-05-07