Incidental Mutation 'IGL00731:Gbp7'
ID 10928
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gbp7
Ensembl Gene ENSMUSG00000040253
Gene Name guanylate binding protein 7
Synonyms 9830147J24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL00731
Quality Score
Status
Chromosome 3
Chromosomal Location 142236103-142255910 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142252189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 591 (S591P)
Ref Sequence ENSEMBL: ENSMUSP00000132970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045097] [ENSMUST00000171263]
AlphaFold Q91Z40
Predicted Effect probably benign
Transcript: ENSMUST00000045097
AA Change: S591P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000049104
Gene: ENSMUSG00000040253
AA Change: S591P

DomainStartEndE-ValueType
Pfam:GBP 18 281 6.6e-128 PFAM
Pfam:GBP_C 283 579 2.8e-127 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171263
AA Change: S591P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000132970
Gene: ENSMUSG00000040253
AA Change: S591P

DomainStartEndE-ValueType
Pfam:GBP 18 281 1e-126 PFAM
Pfam:GBP_C 283 579 2.8e-127 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197826
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 GBP7, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A G 8: 111,771,501 (GRCm39) probably benign Het
Adcy10 T C 1: 165,400,183 (GRCm39) F1531L probably benign Het
Cgas G A 9: 78,342,770 (GRCm39) P344L probably damaging Het
Dab2 T C 15: 6,465,191 (GRCm39) S463P possibly damaging Het
Ehf C T 2: 103,097,185 (GRCm39) probably null Het
Fnbp4 G T 2: 90,598,987 (GRCm39) V704L probably benign Het
Gpr155 A G 2: 73,192,957 (GRCm39) L498P probably damaging Het
Igll1 T C 16: 16,678,783 (GRCm39) T176A probably benign Het
Klk1b21 A G 7: 43,755,347 (GRCm39) E182G possibly damaging Het
Npat G A 9: 53,473,386 (GRCm39) E393K probably damaging Het
Npnt C T 3: 132,610,418 (GRCm39) probably null Het
Pde2a A G 7: 101,157,306 (GRCm39) Y693C probably benign Het
Ralgapa1 A G 12: 55,749,237 (GRCm39) S1269P possibly damaging Het
Rasal2 A C 1: 156,985,334 (GRCm39) D804E probably benign Het
Rdh10 A G 1: 16,178,099 (GRCm39) N124D probably benign Het
Slit3 G T 11: 35,512,981 (GRCm39) D536Y probably damaging Het
Snx24 C T 18: 53,517,681 (GRCm39) probably benign Het
Spink12 G A 18: 44,241,177 (GRCm39) probably benign Het
Other mutations in Gbp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Gbp7 APN 3 142,248,618 (GRCm39) missense probably benign 0.03
IGL01959:Gbp7 APN 3 142,247,108 (GRCm39) splice site probably benign
IGL02002:Gbp7 APN 3 142,244,661 (GRCm39) missense probably damaging 1.00
IGL02008:Gbp7 APN 3 142,252,211 (GRCm39) missense probably benign 0.11
PIT4366001:Gbp7 UTSW 3 142,248,712 (GRCm39) missense probably benign
R0103:Gbp7 UTSW 3 142,252,299 (GRCm39) missense probably benign
R0103:Gbp7 UTSW 3 142,252,299 (GRCm39) missense probably benign
R0398:Gbp7 UTSW 3 142,251,274 (GRCm39) missense possibly damaging 0.93
R0486:Gbp7 UTSW 3 142,252,078 (GRCm39) splice site probably benign
R0645:Gbp7 UTSW 3 142,243,926 (GRCm39) splice site probably null
R0961:Gbp7 UTSW 3 142,247,318 (GRCm39) nonsense probably null
R1834:Gbp7 UTSW 3 142,240,441 (GRCm39) missense probably damaging 1.00
R2089:Gbp7 UTSW 3 142,251,316 (GRCm39) splice site probably benign
R2089:Gbp7 UTSW 3 142,240,383 (GRCm39) missense probably damaging 0.97
R2091:Gbp7 UTSW 3 142,251,316 (GRCm39) splice site probably benign
R2091:Gbp7 UTSW 3 142,240,383 (GRCm39) missense probably damaging 0.97
R2091:Gbp7 UTSW 3 142,240,383 (GRCm39) missense probably damaging 0.97
R2181:Gbp7 UTSW 3 142,249,791 (GRCm39) missense possibly damaging 0.87
R2921:Gbp7 UTSW 3 142,240,333 (GRCm39) missense probably benign 0.00
R2922:Gbp7 UTSW 3 142,240,333 (GRCm39) missense probably benign 0.00
R3819:Gbp7 UTSW 3 142,249,826 (GRCm39) missense possibly damaging 0.81
R4747:Gbp7 UTSW 3 142,248,778 (GRCm39) missense probably damaging 1.00
R4748:Gbp7 UTSW 3 142,243,848 (GRCm39) missense probably benign 0.00
R5899:Gbp7 UTSW 3 142,252,303 (GRCm39) missense probably benign
R6082:Gbp7 UTSW 3 142,251,697 (GRCm39) missense probably benign 0.01
R6211:Gbp7 UTSW 3 142,251,754 (GRCm39) missense probably benign 0.12
R6330:Gbp7 UTSW 3 142,252,259 (GRCm39) missense probably benign
R6419:Gbp7 UTSW 3 142,252,214 (GRCm39) missense probably benign 0.00
R7120:Gbp7 UTSW 3 142,249,734 (GRCm39) missense probably damaging 1.00
R7338:Gbp7 UTSW 3 142,243,786 (GRCm39) missense probably damaging 1.00
R7844:Gbp7 UTSW 3 142,242,147 (GRCm39) missense probably benign 0.10
R7910:Gbp7 UTSW 3 142,240,402 (GRCm39) missense probably damaging 1.00
R8357:Gbp7 UTSW 3 142,252,133 (GRCm39) missense probably benign 0.06
R8457:Gbp7 UTSW 3 142,252,133 (GRCm39) missense probably benign 0.06
R9016:Gbp7 UTSW 3 142,249,870 (GRCm39) missense probably benign 0.35
R9030:Gbp7 UTSW 3 142,243,798 (GRCm39) missense probably damaging 1.00
R9070:Gbp7 UTSW 3 142,249,762 (GRCm39) missense probably benign 0.10
R9357:Gbp7 UTSW 3 142,248,889 (GRCm39) missense probably benign 0.01
R9425:Gbp7 UTSW 3 142,248,718 (GRCm39) missense probably damaging 1.00
R9634:Gbp7 UTSW 3 142,242,115 (GRCm39) missense probably benign 0.43
R9684:Gbp7 UTSW 3 142,240,327 (GRCm39) missense possibly damaging 0.86
Posted On 2012-12-06