Incidental Mutation 'IGL02310:Gbp6'
ID287772
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gbp6
Ensembl Gene ENSMUSG00000104713
Gene Nameguanylate binding protein 6
SynonymsMpa2l
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02310
Quality Score
Status
Chromosome5
Chromosomal Location105270702-105293698 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 105290975 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 16 (N16D)
Ref Sequence ENSEMBL: ENSMUSP00000142994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050011] [ENSMUST00000196520] [ENSMUST00000200045]
Predicted Effect probably benign
Transcript: ENSMUST00000050011
AA Change: N16D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000062528
Gene: ENSMUSG00000079362
AA Change: N16D

DomainStartEndE-ValueType
Pfam:GBP 16 279 7.6e-118 PFAM
Pfam:GBP_C 281 575 2.1e-117 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196520
AA Change: N16D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000142518
Gene: ENSMUSG00000104713
AA Change: N16D

DomainStartEndE-ValueType
Pfam:GBP 16 279 2.8e-124 PFAM
Pfam:GBP_C 281 575 2.1e-117 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199944
Predicted Effect probably benign
Transcript: ENSMUST00000200045
AA Change: N16D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000142994
Gene: ENSMUSG00000104713
AA Change: N16D

DomainStartEndE-ValueType
Pfam:GBP 16 62 7.4e-19 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik A G 9: 22,424,428 Y114C probably benign Het
Ano4 T A 10: 89,023,878 K382* probably null Het
Bcl9l A G 9: 44,509,305 Y1299C probably damaging Het
Best1 T A 19: 9,989,152 H357L probably benign Het
Cdc26 T C 4: 62,395,029 probably benign Het
Esyt2 C T 12: 116,365,921 L700F probably benign Het
Fkbp15 T C 4: 62,340,316 Y138C probably damaging Het
Gm44805 A G 7: 19,671,763 *98Q probably null Het
Hecw2 T C 1: 53,923,916 D812G probably null Het
Hic2 G A 16: 17,257,757 R150Q probably damaging Het
Kif21b T A 1: 136,159,757 L937Q probably damaging Het
Klhl36 T A 8: 119,869,617 probably null Het
Mug2 C T 6: 122,059,123 probably benign Het
Olfr1410 T C 1: 92,608,065 V76A possibly damaging Het
Pdcl2 A T 5: 76,317,881 I116N probably damaging Het
Pkn2 A G 3: 142,811,580 I482T probably damaging Het
Prss53 T G 7: 127,886,614 D518A probably benign Het
Psme4 A G 11: 30,837,484 D1093G probably benign Het
Tmcc2 A T 1: 132,358,907 I602N probably damaging Het
Tmem55b T C 14: 50,929,210 T187A possibly damaging Het
Ttn C T 2: 76,788,691 V16115I possibly damaging Het
Zbtb21 G T 16: 97,951,790 T459K possibly damaging Het
Other mutations in Gbp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Gbp6 APN 5 105274279 nonsense probably null
IGL01721:Gbp6 APN 5 105274207 missense probably benign 0.01
IGL02432:Gbp6 APN 5 105274362 missense probably benign
R5703:Gbp6 UTSW 5 105273281 missense probably benign 0.00
R7834:Gbp6 UTSW 5 105273265 missense probably benign 0.41
R7917:Gbp6 UTSW 5 105273265 missense probably benign 0.41
Posted On2015-04-16