Incidental Mutation 'IGL03392:Gbp8'
ID421119
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gbp8
Ensembl Gene ENSMUSG00000034438
Gene Nameguanylate-binding protein 8
Synonyms5830443L24Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL03392
Quality Score
Status
Chromosome5
Chromosomal Location105014150-105139540 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 105016544 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031235] [ENSMUST00000112718]
Predicted Effect probably null
Transcript: ENSMUST00000031235
SMART Domains Protein: ENSMUSP00000031235
Gene: ENSMUSG00000034438

DomainStartEndE-ValueType
Pfam:GBP 16 213 5.4e-91 PFAM
Pfam:GBP_C 206 493 1e-115 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112718
SMART Domains Protein: ENSMUSP00000108338
Gene: ENSMUSG00000034438

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,562,011 D692E probably damaging Het
Adgrb3 T A 1: 25,504,448 R366S probably damaging Het
Afg3l2 C A 18: 67,414,069 probably benign Het
Cd5 T C 19: 10,726,289 probably benign Het
Cnbd1 A G 4: 18,862,111 S360P probably damaging Het
Col13a1 A T 10: 61,885,711 L305I possibly damaging Het
Commd7 A T 2: 153,622,764 probably benign Het
Cpsf6 A T 10: 117,367,979 Y23N probably damaging Het
Cry1 A G 10: 85,157,129 V75A possibly damaging Het
Cyp2c39 A G 19: 39,513,323 N107D probably benign Het
Dcaf11 T A 14: 55,561,421 V45E probably damaging Het
Dnm2 A G 9: 21,474,611 E310G probably damaging Het
Fat3 T A 9: 16,003,862 I1597L probably benign Het
Fcamr A G 1: 130,800,948 probably benign Het
Fer A G 17: 63,991,642 I529V probably damaging Het
Fhdc1 T C 3: 84,444,519 K1133R possibly damaging Het
Foxd3 A G 4: 99,657,195 K191E probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Glb1 T G 9: 114,430,321 N106K probably damaging Het
Hpx A G 7: 105,592,402 I295T probably damaging Het
Ipo5 T A 14: 120,942,687 D844E probably damaging Het
Krt17 T C 11: 100,259,735 I159V possibly damaging Het
Lgi4 G A 7: 31,063,180 probably null Het
Lrrc49 T C 9: 60,666,280 probably benign Het
Ltn1 T C 16: 87,425,611 K178R probably damaging Het
Myh8 T A 11: 67,294,418 W832R probably damaging Het
Nbn A G 4: 15,962,362 N30S probably damaging Het
Olfr1245 A T 2: 89,575,249 V159D probably damaging Het
Olfr1312 T A 2: 112,042,976 N19Y probably benign Het
Olfr137 A G 17: 38,304,895 S189P probably benign Het
Olfr632 T C 7: 103,938,025 V215A probably benign Het
Pcdh15 A T 10: 74,624,272 I1314F probably damaging Het
Phf14 G A 6: 11,962,659 S435N probably damaging Het
Prss45 T A 9: 110,840,550 Y231* probably null Het
Pus7l T C 15: 94,536,568 D339G probably damaging Het
Sbk2 A G 7: 4,957,409 F254S probably damaging Het
Serpina1b T G 12: 103,732,070 K173N possibly damaging Het
Slc13a5 G A 11: 72,245,178 T469I probably damaging Het
Spon1 A G 7: 114,034,287 E655G probably damaging Het
Sv2b T C 7: 75,156,760 probably null Het
Treh A G 9: 44,685,931 D514G probably damaging Het
Umodl1 T A 17: 30,996,355 L1051Q probably damaging Het
Usp5 A G 6: 124,826,387 F4S probably damaging Het
Vmn1r16 A G 6: 57,322,894 S248P probably damaging Het
Other mutations in Gbp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00576:Gbp8 APN 5 105017888 splice site probably benign
IGL00775:Gbp8 APN 5 105017845 missense probably damaging 0.96
IGL00788:Gbp8 APN 5 105050997 missense probably benign 0.32
IGL01289:Gbp8 APN 5 105017869 missense probably benign 0.01
IGL01634:Gbp8 APN 5 105018572 missense probably damaging 0.96
PIT4458001:Gbp8 UTSW 5 105015089 missense probably benign
R0180:Gbp8 UTSW 5 105031276 missense probably damaging 1.00
R0570:Gbp8 UTSW 5 105017675 splice site probably null
R1370:Gbp8 UTSW 5 105016576 missense possibly damaging 0.72
R1772:Gbp8 UTSW 5 105016121 missense probably benign 0.36
R2261:Gbp8 UTSW 5 105016133 missense possibly damaging 0.72
R2262:Gbp8 UTSW 5 105016133 missense possibly damaging 0.72
R4050:Gbp8 UTSW 5 105031238 missense probably damaging 1.00
R4405:Gbp8 UTSW 5 105051062 unclassified probably benign
R4649:Gbp8 UTSW 5 105041941 missense probably damaging 1.00
R4743:Gbp8 UTSW 5 105030841 missense possibly damaging 0.91
R5228:Gbp8 UTSW 5 105016185 missense probably benign 0.03
R5259:Gbp8 UTSW 5 105050979 missense probably benign 0.00
R5543:Gbp8 UTSW 5 105017830 missense possibly damaging 0.52
R5696:Gbp8 UTSW 5 105018816 missense possibly damaging 0.92
R6352:Gbp8 UTSW 5 105015060 missense possibly damaging 0.88
R6767:Gbp8 UTSW 5 105018612 missense probably benign 0.08
R6847:Gbp8 UTSW 5 105031227 missense probably benign 0.00
R7127:Gbp8 UTSW 5 105017712 missense probably benign 0.04
R7188:Gbp8 UTSW 5 105016215 missense probably benign 0.01
R7402:Gbp8 UTSW 5 105031295 missense probably damaging 1.00
R7461:Gbp8 UTSW 5 105031014 missense probably damaging 1.00
R7613:Gbp8 UTSW 5 105031014 missense probably damaging 1.00
R7724:Gbp8 UTSW 5 105031294 missense probably damaging 1.00
R8039:Gbp8 UTSW 5 105050917 nonsense probably null
R8146:Gbp8 UTSW 5 105030978 missense probably benign 0.39
R8205:Gbp8 UTSW 5 105050980 missense probably benign 0.00
R8230:Gbp8 UTSW 5 105050869 missense probably benign 0.29
R8425:Gbp8 UTSW 5 105017774 missense probably damaging 1.00
Posted On2016-08-02