Incidental Mutation 'R4743:Gbp8'
ID 358176
Institutional Source Beutler Lab
Gene Symbol Gbp8
Ensembl Gene ENSMUSG00000034438
Gene Name guanylate-binding protein 8
Synonyms 5830443L24Rik
MMRRC Submission 041967-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R4743 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 105160379-105201475 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105178707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 203 (K203E)
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: K203E

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031235
Gene: ENSMUSG00000034438
AA Change: K203E

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: K203E

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108338
Gene: ENSMUSG00000034438
AA Change: K203E

DomainStartEndE-ValueType
Pfam:GBP 16 214 5e-95 PFAM
Pfam:GBP_C 206 493 1e-115 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198326
Meta Mutation Damage Score 0.1767 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 98% (44/45)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik A G 1: 85,858,972 (GRCm39) probably benign Het
Ahcy T C 2: 154,910,888 (GRCm39) N27D probably damaging Het
Akap9 T G 5: 4,011,013 (GRCm39) L572R probably damaging Het
Akna A G 4: 63,296,850 (GRCm39) S909P probably damaging Het
Atr A G 9: 95,744,845 (GRCm39) E54G probably benign Het
Baz2b A G 2: 59,744,255 (GRCm39) S1417P probably benign Het
Colgalt2 A G 1: 152,276,094 (GRCm39) Y69C probably damaging Het
Comp A G 8: 70,828,711 (GRCm39) E181G probably damaging Het
Dcaf10 T A 4: 45,370,409 (GRCm39) S326T probably damaging Het
Dscam T C 16: 96,631,256 (GRCm39) E253G probably benign Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Epha1 G T 6: 42,349,155 (GRCm39) T36K probably benign Het
Ewsr1 A T 11: 5,033,541 (GRCm39) D210E unknown Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fndc1 T A 17: 7,991,111 (GRCm39) R862* probably null Het
Gigyf2 T A 1: 87,292,970 (GRCm39) L79* probably null Het
Gm8220 T A 14: 44,523,152 (GRCm39) probably benign Het
Gm9755 A T 8: 67,966,929 (GRCm39) noncoding transcript Het
Il6 T C 5: 30,223,042 (GRCm39) Y120H probably damaging Het
Kcnma1 T C 14: 23,853,270 (GRCm39) T2A probably damaging Het
Mroh9 T C 1: 162,852,061 (GRCm39) Y876C probably benign Het
Plekhh2 A G 17: 84,878,548 (GRCm39) Y601C probably damaging Het
Rabgap1l G T 1: 160,281,353 (GRCm39) Q623K probably damaging Het
Rad9a G A 19: 4,250,560 (GRCm39) R85C probably damaging Het
Rapgef2 T C 3: 79,080,375 (GRCm39) Y109C probably damaging Het
Rhox2c A C X: 36,635,351 (GRCm39) Q4H probably benign Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Slain2 T A 5: 73,114,927 (GRCm39) L386* probably null Het
Slc4a7 A G 14: 14,796,073 (GRCm38) probably null Het
Slco1c1 T C 6: 141,510,242 (GRCm39) C582R probably damaging Het
Sulf1 A G 1: 12,906,517 (GRCm39) N520D probably benign Het
Tbc1d7 A G 13: 43,323,325 (GRCm39) V22A probably damaging Het
Tmprss6 A G 15: 78,327,910 (GRCm39) V612A probably damaging Het
Trpv2 A G 11: 62,483,627 (GRCm39) E488G probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Uspl1 A G 5: 149,146,566 (GRCm39) Y439C probably damaging Het
Vwf A G 6: 125,661,054 (GRCm39) probably null 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
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
R6352:Gbp8 UTSW 5 105,162,926 (GRCm39) missense possibly damaging 0.88
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'- AATAATTTTGCTGTGCTATGGGCTC -3'
(R):5'- GCCAAGTGCCAGTTATGTCAC -3'

Sequencing Primer
(F):5'- GCTATGGGCTCTATTCTTTCCAAATG -3'
(R):5'- GTGCCAGTTATGTCACAGAACTC -3'
Posted On 2015-11-11