Incidental Mutation 'R6352:Gbp8'
ID 513279
Institutional Source Beutler Lab
Gene Symbol Gbp8
Ensembl Gene ENSMUSG00000034438
Gene Name guanylate-binding protein 8
Synonyms 5830443L24Rik
MMRRC Submission 044504-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R6352 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 105160379-105201475 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105162926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 489 (I489M)
Ref Sequence ENSEMBL: ENSMUSP00000108338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031235] [ENSMUST00000112718]
AlphaFold Q2V6D6
Predicted Effect possibly damaging
Transcript: ENSMUST00000031235
AA Change: I489M

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031235
Gene: ENSMUSG00000034438
AA Change: I489M

DomainStartEndE-ValueType
Pfam:GBP 16 213 5.4e-91 PFAM
Pfam:GBP_C 206 493 1e-115 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112718
AA Change: I489M

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108338
Gene: ENSMUSG00000034438
AA Change: I489M

DomainStartEndE-ValueType
Pfam:GBP 16 214 5e-95 PFAM
Pfam:GBP_C 206 493 1e-115 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198326
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199483
Meta Mutation Damage Score 0.5268 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 96% (48/50)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T C 17: 48,347,945 (GRCm39) S120G probably benign Het
Abca13 G A 11: 9,259,139 (GRCm39) probably null Het
Aco1 G A 4: 40,186,367 (GRCm39) R593Q probably benign Het
Adgra3 T A 5: 50,136,478 (GRCm39) D669V probably benign Het
Adgra3 T A 5: 50,147,592 (GRCm39) M483L probably benign Het
Ccdc42 T C 11: 68,485,191 (GRCm39) V88A probably damaging Het
Cdh16 G C 8: 105,343,624 (GRCm39) S624C probably damaging Het
Cpt1c A T 7: 44,616,219 (GRCm39) probably null Het
Cul9 T C 17: 46,822,241 (GRCm39) T1795A probably benign Het
Dnah2 C T 11: 69,339,053 (GRCm39) V3098I probably damaging Het
Fbxl16 T C 17: 26,037,919 (GRCm39) L426P probably damaging Het
Flt4 T C 11: 49,534,333 (GRCm39) I1168T probably benign Het
Fmo5 T C 3: 97,552,991 (GRCm39) V313A probably benign Het
Foxj3 A G 4: 119,442,975 (GRCm39) N133S probably damaging Het
Gm10801 TC TCGAC 2: 98,494,151 (GRCm39) probably benign Het
Hdgfl1 T G 13: 26,953,733 (GRCm39) E113D probably benign Het
Heatr5a A T 12: 51,997,949 (GRCm39) S317T possibly damaging Het
Hycc2 A G 1: 58,596,471 (GRCm39) V38A probably damaging Het
Insr C T 8: 3,223,479 (GRCm39) probably null Het
Iqcf5 A G 9: 106,392,929 (GRCm39) E62G possibly damaging Het
Kcnj3 G A 2: 55,327,561 (GRCm39) V117I probably benign Het
Klf9 T A 19: 23,119,138 (GRCm39) M7K probably benign Het
Mboat1 G A 13: 30,386,403 (GRCm39) G139E possibly damaging Het
Mical3 T C 6: 120,929,434 (GRCm39) T1811A probably damaging Het
Mllt10 A C 2: 18,128,604 (GRCm39) K117T probably damaging Het
Mpped1 A G 15: 83,720,564 (GRCm39) D8G probably damaging Het
Myh4 A T 11: 67,143,108 (GRCm39) D1012V probably damaging Het
Myo9b C A 8: 71,801,054 (GRCm39) P1070T probably benign Het
Myo9b C T 8: 71,801,055 (GRCm39) P1071L probably benign Het
Nlrp1b T A 11: 71,072,527 (GRCm39) I439F probably damaging Het
Nlrp9a T A 7: 26,257,051 (GRCm39) I134N probably damaging Het
Nop2 C T 6: 125,114,170 (GRCm39) T212M probably benign Het
Notch4 T C 17: 34,786,435 (GRCm39) C188R probably damaging Het
Or10q12 A T 19: 13,745,828 (GRCm39) M41L probably benign Het
Or2ag19 G T 7: 106,444,429 (GRCm39) V204F probably damaging Het
Pgd C T 4: 149,245,209 (GRCm39) probably null Het
Plet1 T C 9: 50,412,407 (GRCm39) S142P probably damaging Het
Ptk7 A T 17: 46,887,816 (GRCm39) W539R probably benign Het
Ptprd A T 4: 76,009,789 (GRCm39) probably null Het
Rgs22 T G 15: 36,093,067 (GRCm39) Q402P probably damaging Het
Rpl10a T C 17: 28,549,820 (GRCm39) V167A possibly damaging Het
Sdr16c5 A G 4: 4,016,421 (GRCm39) S2P probably benign Het
Slc14a2 T C 18: 78,252,309 (GRCm39) M1V probably null Het
Spta1 T A 1: 174,039,212 (GRCm39) M1185K possibly damaging Het
Syde2 G T 3: 145,704,229 (GRCm39) E127* probably null Het
Thoc2l A G 5: 104,668,064 (GRCm39) E862G probably benign Het
Ugt2b38 T A 5: 87,571,860 (GRCm39) R57S possibly damaging Het
Wdr11 C T 7: 129,208,399 (GRCm39) L385F possibly damaging Het
Wdr74 T C 19: 8,716,822 (GRCm39) V200A possibly damaging Het
Other mutations in Gbp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00576:Gbp8 APN 5 105,165,754 (GRCm39) splice site probably benign
IGL00775:Gbp8 APN 5 105,165,711 (GRCm39) missense probably damaging 0.96
IGL00788:Gbp8 APN 5 105,198,863 (GRCm39) missense probably benign 0.32
IGL01289:Gbp8 APN 5 105,165,735 (GRCm39) missense probably benign 0.01
IGL01634:Gbp8 APN 5 105,166,438 (GRCm39) missense probably damaging 0.96
IGL03392:Gbp8 APN 5 105,164,410 (GRCm39) critical splice donor site probably null
PIT4458001:Gbp8 UTSW 5 105,162,955 (GRCm39) missense probably benign
R0180:Gbp8 UTSW 5 105,179,142 (GRCm39) missense probably damaging 1.00
R0570:Gbp8 UTSW 5 105,165,541 (GRCm39) splice site probably null
R1370:Gbp8 UTSW 5 105,164,442 (GRCm39) missense possibly damaging 0.72
R1772:Gbp8 UTSW 5 105,163,987 (GRCm39) missense probably benign 0.36
R2261:Gbp8 UTSW 5 105,163,999 (GRCm39) missense possibly damaging 0.72
R2262:Gbp8 UTSW 5 105,163,999 (GRCm39) missense possibly damaging 0.72
R4050:Gbp8 UTSW 5 105,179,104 (GRCm39) missense probably damaging 1.00
R4405:Gbp8 UTSW 5 105,198,928 (GRCm39) unclassified probably benign
R4649:Gbp8 UTSW 5 105,189,807 (GRCm39) missense probably damaging 1.00
R4743:Gbp8 UTSW 5 105,178,707 (GRCm39) missense possibly damaging 0.91
R5228:Gbp8 UTSW 5 105,164,051 (GRCm39) missense probably benign 0.03
R5259:Gbp8 UTSW 5 105,198,845 (GRCm39) missense probably benign 0.00
R5543:Gbp8 UTSW 5 105,165,696 (GRCm39) missense possibly damaging 0.52
R5696:Gbp8 UTSW 5 105,166,682 (GRCm39) missense possibly damaging 0.92
R6767:Gbp8 UTSW 5 105,166,478 (GRCm39) missense probably benign 0.08
R6847:Gbp8 UTSW 5 105,179,093 (GRCm39) missense probably benign 0.00
R7127:Gbp8 UTSW 5 105,165,578 (GRCm39) missense probably benign 0.04
R7188:Gbp8 UTSW 5 105,164,081 (GRCm39) missense probably benign 0.01
R7402:Gbp8 UTSW 5 105,179,161 (GRCm39) missense probably damaging 1.00
R7461:Gbp8 UTSW 5 105,178,880 (GRCm39) missense probably damaging 1.00
R7613:Gbp8 UTSW 5 105,178,880 (GRCm39) missense probably damaging 1.00
R7724:Gbp8 UTSW 5 105,179,160 (GRCm39) missense probably damaging 1.00
R8039:Gbp8 UTSW 5 105,198,783 (GRCm39) nonsense probably null
R8146:Gbp8 UTSW 5 105,178,844 (GRCm39) missense probably benign 0.39
R8205:Gbp8 UTSW 5 105,198,846 (GRCm39) missense probably benign 0.00
R8230:Gbp8 UTSW 5 105,198,735 (GRCm39) missense probably benign 0.29
R8425:Gbp8 UTSW 5 105,165,640 (GRCm39) missense probably damaging 1.00
R8833:Gbp8 UTSW 5 105,166,668 (GRCm39) missense possibly damaging 0.69
R9062:Gbp8 UTSW 5 105,179,124 (GRCm39) missense possibly damaging 0.76
R9169:Gbp8 UTSW 5 105,179,155 (GRCm39) missense possibly damaging 0.92
R9193:Gbp8 UTSW 5 105,179,169 (GRCm39) missense probably damaging 1.00
R9566:Gbp8 UTSW 5 105,198,799 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTCTGCGGAGTGAAAATGG -3'
(R):5'- TCTTCTTCATGGTAAGGGAAAGC -3'

Sequencing Primer
(F):5'- TTCTCTGCGGAGTGAAAATGGAAAAC -3'
(R):5'- CTTCATGGTAAGGGAAAGCTTTTAG -3'
Posted On 2018-04-27