Incidental Mutation 'IGL00473:Gbp6'
ID332436
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? Not available question?
Stock #IGL00473
Quality Score
Status
Chromosome5
Chromosomal Location105270702-105293698 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 105274279 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 520 (K520*)
Ref Sequence ENSEMBL: ENSMUSP00000142518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050011] [ENSMUST00000196520] [ENSMUST00000200045]
Predicted Effect probably null
Transcript: ENSMUST00000050011
AA Change: K520*
SMART Domains Protein: ENSMUSP00000062528
Gene: ENSMUSG00000079362
AA Change: K520*

DomainStartEndE-ValueType
Pfam:GBP 16 279 7.6e-118 PFAM
Pfam:GBP_C 281 575 2.1e-117 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000196520
AA Change: K520*
SMART Domains Protein: ENSMUSP00000142518
Gene: ENSMUSG00000104713
AA Change: K520*

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik C T 4: 35,213,616 G178E possibly damaging Het
Arcn1 A G 9: 44,757,147 V264A probably benign Het
Asap1 T C 15: 64,173,215 probably benign Het
Brpf1 A C 6: 113,316,684 Q571H probably damaging Het
Creb3 G T 4: 43,565,517 R232L probably benign Het
Cst10 G T 2: 149,405,373 S3I unknown Het
Cyp4a14 A G 4: 115,489,952 probably benign Het
Daxx C T 17: 33,911,607 Q199* probably null Het
Eml5 A G 12: 98,805,492 probably benign Het
Gcfc2 T A 6: 81,944,374 C454S probably damaging Het
Gm9894 T A 13: 67,765,117 noncoding transcript Het
Gpr15 C T 16: 58,718,078 C216Y probably damaging Het
Gzmn T C 14: 56,166,979 K134E probably benign Het
Kat2b T G 17: 53,663,623 I679S possibly damaging Het
Klhl10 A G 11: 100,456,414 Y478C probably damaging Het
Mapt A G 11: 104,287,183 D54G probably damaging Het
Mocs1 A G 17: 49,433,201 E52G probably benign Het
Plekhn1 T G 4: 156,223,363 T369P probably damaging Het
Prdm6 T A 18: 53,540,285 F172L probably benign Het
Prl7b1 A T 13: 27,604,590 V94D probably damaging Het
Rasal2 T C 1: 157,147,817 T1116A probably benign Het
Rreb1 A T 13: 37,930,791 K709* probably null Het
Ruvbl1 A T 6: 88,491,568 R357W probably damaging Het
Slc4a5 T C 6: 83,296,597 L973P probably damaging Het
Srp72 A G 5: 76,984,176 Y234C probably damaging Het
Synrg G A 11: 84,039,246 M1070I probably damaging Het
Zan A T 5: 137,464,250 I889K possibly damaging Het
Zbtb40 G A 4: 136,987,340 T1046M probably damaging Het
Zfp978 A G 4: 147,390,860 N288S probably benign Het
Zfpm2 A T 15: 41,099,287 K247M probably damaging Het
Other mutations in Gbp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01721:Gbp6 APN 5 105274207 missense probably benign 0.01
IGL02310:Gbp6 APN 5 105290975 missense probably benign 0.00
IGL02432:Gbp6 APN 5 105274362 missense probably benign
R5703:Gbp6 UTSW 5 105273281 missense probably benign 0.00
Posted On2015-08-05