Incidental Mutation 'IGL02432:Gbp6'
ID293157
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? Probably non essential (E-score: 0.163) question?
Stock #IGL02432
Quality Score
Status
Chromosome5
Chromosomal Location105270702-105293698 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 105274362 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 492 (V492E)
Ref Sequence ENSEMBL: ENSMUSP00000142518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050011] [ENSMUST00000196520] [ENSMUST00000200045]
Predicted Effect probably benign
Transcript: ENSMUST00000050011
AA Change: V492E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062528
Gene: ENSMUSG00000079362
AA Change: V492E

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: V492E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142518
Gene: ENSMUSG00000104713
AA Change: V492E

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
SMART Domains Protein: ENSMUSP00000142994
Gene: ENSMUSG00000104713

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
4921509C19Rik G A 2: 151,472,561 T399M probably benign Het
A830018L16Rik A T 1: 11,748,079 N321I probably damaging Het
Aimp1 T C 3: 132,673,977 T135A probably benign Het
Ascc3 T C 10: 50,700,493 M848T probably damaging Het
Cry2 T C 2: 92,413,667 D387G probably damaging Het
Daxx G A 17: 33,912,337 D413N probably benign Het
Itpr2 T A 6: 146,325,173 M1358L probably benign Het
Med13l T A 5: 118,738,400 D880E possibly damaging Het
Mmd2 A T 5: 142,575,339 I47N probably damaging Het
Mroh2b G A 15: 4,914,186 M401I probably benign Het
Nrip1 T C 16: 76,291,780 K963R probably benign Het
Otop2 A G 11: 115,329,162 H276R probably damaging Het
Pxn T A 5: 115,545,746 D79E probably damaging Het
Rho G A 6: 115,932,185 V61I probably damaging Het
Rtp1 A G 16: 23,431,404 Y173C probably damaging Het
Slc6a17 T C 3: 107,493,177 D212G possibly damaging Het
Stpg1 A G 4: 135,508,010 E54G probably damaging Het
Tas2r119 A G 15: 32,177,707 T140A probably benign Het
Traf3ip3 C T 1: 193,184,576 C316Y probably damaging Het
Ttc28 G A 5: 111,223,235 A517T probably damaging Het
Vmn1r30 T C 6: 58,435,670 N59S probably benign Het
Vmn2r4 C T 3: 64,406,400 V387M probably benign 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
IGL02310:Gbp6 APN 5 105290975 missense probably benign 0.00
R5703:Gbp6 UTSW 5 105273281 missense probably benign 0.00
R7834:Gbp6 UTSW 5 105273265 missense probably benign 0.41
Posted On2015-04-16