Incidental Mutation 'IGL02965:Gbp3'
ID365544
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gbp3
Ensembl Gene ENSMUSG00000028268
Gene Nameguanylate binding protein 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02965
Quality Score
Status
Chromosome3
Chromosomal Location142560026-142573209 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 142567582 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 297 (I297V)
Ref Sequence ENSEMBL: ENSMUSP00000101829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029935] [ENSMUST00000106221] [ENSMUST00000106222] [ENSMUST00000128609] [ENSMUST00000142060]
Predicted Effect probably benign
Transcript: ENSMUST00000029935
AA Change: I297V

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000029935
Gene: ENSMUSG00000028268
AA Change: I297V

DomainStartEndE-ValueType
Pfam:GBP 12 275 7.2e-126 PFAM
Pfam:GBP_C 277 573 2.6e-126 PFAM
low complexity region 605 620 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106221
AA Change: I297V

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101828
Gene: ENSMUSG00000028268
AA Change: I297V

DomainStartEndE-ValueType
Pfam:GBP 12 275 7.2e-126 PFAM
Pfam:GBP_C 277 573 2.6e-126 PFAM
low complexity region 605 620 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106222
AA Change: I297V

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101829
Gene: ENSMUSG00000028268
AA Change: I297V

DomainStartEndE-ValueType
Pfam:GBP 12 275 9.6e-125 PFAM
Pfam:GBP_C 277 573 2.6e-126 PFAM
low complexity region 605 620 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128609
SMART Domains Protein: ENSMUSP00000117991
Gene: ENSMUSG00000028268

DomainStartEndE-ValueType
Pfam:GBP 12 83 1.1e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142060
SMART Domains Protein: ENSMUSP00000120131
Gene: ENSMUSG00000028268

DomainStartEndE-ValueType
Pfam:GBP 12 136 4.8e-69 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142731
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanylate-binding proteins, such as GBP4, are induced by interferon and hydrolyze GTP to both GDP and GMP (Vestal, 2005 [PubMed 16108726]).[supplied by OMIM, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,180,613 K1471R probably benign Het
Add1 A G 5: 34,620,123 S77G probably damaging Het
Atm G T 9: 53,453,563 N2642K probably damaging Het
Atp6v0a2 T A 5: 124,629,202 M10K possibly damaging Het
Btd T A 14: 31,667,236 S305T probably damaging Het
Cmya5 C T 13: 93,092,557 V2008I probably benign Het
Cpd T G 11: 76,790,988 probably benign Het
Dis3l A G 9: 64,310,484 F772L probably damaging Het
Dlg5 A T 14: 24,172,023 I517N probably damaging Het
Fig4 G A 10: 41,285,665 T34M probably damaging Het
Flna C T X: 74,227,210 V2235I probably damaging Het
Flot2 T C 11: 78,059,205 I371T possibly damaging Het
Fsip2 G A 2: 82,983,054 S3239N probably benign Het
Gcnt3 T C 9: 70,034,953 E111G probably benign Het
Gdi1 G T X: 74,307,725 A148S probably benign Het
Heatr5b G A 17: 78,753,073 H2058Y probably benign Het
Hsp90aa1 A G 12: 110,695,679 M1T probably null Het
Iltifb A G 10: 118,294,857 S45P probably damaging Het
Inppl1 C A 7: 101,828,271 V715F possibly damaging Het
Kansl1 T C 11: 104,335,165 Y975C probably damaging Het
Kif18b A G 11: 102,916,512 probably benign Het
Krt40 T A 11: 99,541,666 R175W probably damaging Het
Map3k19 T C 1: 127,824,066 D516G probably damaging Het
Mfsd3 A G 15: 76,703,152 H345R probably benign Het
Mlkl A T 8: 111,331,837 I162N probably benign Het
Mtnr1a A T 8: 45,069,382 N58I probably damaging Het
Nsmf T C 2: 25,061,762 V499A probably damaging Het
Nudt6 A G 3: 37,419,506 L22P probably damaging Het
Nxf7 T G X: 135,589,410 E35A probably damaging Het
Olfr748 A C 14: 50,711,196 I289L probably damaging Het
Paf1 T C 7: 28,396,204 probably null Het
Pcdhb11 G T 18: 37,423,968 V784L probably benign Het
Pglyrp2 T C 17: 32,418,586 D156G probably benign Het
Pnpt1 A G 11: 29,156,939 D670G probably damaging Het
Polr1b T A 2: 129,125,523 H945Q probably benign Het
Ptk6 C T 2: 181,199,068 probably benign Het
Rftn1 C T 17: 50,055,252 E273K probably benign Het
Rnf125 A G 18: 20,983,111 I117V probably benign Het
Robo4 A G 9: 37,410,469 K742R possibly damaging Het
Sez6l T C 5: 112,475,574 E37G probably damaging Het
Skint4 A T 4: 112,136,021 I306L probably benign Het
Sntb1 A T 15: 55,642,685 Y497* probably null Het
Snx27 C A 3: 94,582,426 V42L probably damaging Het
Sorbs1 T A 19: 40,376,743 T199S probably benign Het
Sorcs2 A G 5: 36,077,957 Y72H probably benign Het
Spef2 G T 15: 9,725,106 probably benign Het
Sucla2 G T 14: 73,579,431 V204L probably benign Het
Tescl C A 7: 24,333,673 V76F probably damaging Het
Tnxb T A 17: 34,709,654 Y2681N possibly damaging Het
Usp42 T C 5: 143,728,014 T2A probably damaging Het
Vdac3-ps1 T A 13: 18,030,846 noncoding transcript Het
Wapl T A 14: 34,739,224 probably benign Het
Other mutations in Gbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Gbp3 APN 3 142565244 unclassified probably benign
IGL01067:Gbp3 APN 3 142566597 splice site probably null
R0136:Gbp3 UTSW 3 142564101 splice site probably null
R0609:Gbp3 UTSW 3 142567772 missense probably damaging 0.99
R0671:Gbp3 UTSW 3 142565390 missense probably benign 0.17
R0673:Gbp3 UTSW 3 142565254 missense probably benign 0.45
R0786:Gbp3 UTSW 3 142570971 missense possibly damaging 0.67
R2511:Gbp3 UTSW 3 142570582 missense probably benign 0.31
R3909:Gbp3 UTSW 3 142566338 unclassified probably benign
R3912:Gbp3 UTSW 3 142566338 unclassified probably benign
R4816:Gbp3 UTSW 3 142567574 missense probably damaging 0.99
R5822:Gbp3 UTSW 3 142566478 missense probably benign 0.01
R6046:Gbp3 UTSW 3 142567799 missense possibly damaging 0.81
R6328:Gbp3 UTSW 3 142569058 missense probably benign 0.01
R7186:Gbp3 UTSW 3 142564162 missense probably damaging 0.97
X0025:Gbp3 UTSW 3 142566432 missense probably benign 0.42
X0062:Gbp3 UTSW 3 142561774 missense probably damaging 1.00
Posted On2015-12-18