Incidental Mutation 'IGL00473:Gbp6'
ID 332436
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gbp6
Ensembl Gene ENSMUSG00000104713
Gene Name guanylate binding protein 6
Synonyms Mpa2l
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # IGL00473
Quality Score
Status
Chromosome 5
Chromosomal Location 105418568-105441564 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 105422145 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold A0A0G2JDV3
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
Arcn1 A G 9: 44,668,444 (GRCm39) V264A probably benign Het
Asap1 T C 15: 64,045,064 (GRCm39) probably benign Het
Brpf1 A C 6: 113,293,645 (GRCm39) Q571H probably damaging Het
C9orf72 C T 4: 35,213,616 (GRCm39) G178E possibly damaging Het
Creb3 G T 4: 43,565,517 (GRCm39) R232L probably benign Het
Cst5 G T 2: 149,247,293 (GRCm39) S3I unknown Het
Cyp4a14 A G 4: 115,347,149 (GRCm39) probably benign Het
Daxx C T 17: 34,130,581 (GRCm39) Q199* probably null Het
Eml5 A G 12: 98,771,751 (GRCm39) probably benign Het
Gcfc2 T A 6: 81,921,355 (GRCm39) C454S probably damaging Het
Gm9894 T A 13: 67,913,236 (GRCm39) noncoding transcript Het
Gpr15 C T 16: 58,538,441 (GRCm39) C216Y probably damaging Het
Gzmn T C 14: 56,404,436 (GRCm39) K134E probably benign Het
Kat2b T G 17: 53,970,651 (GRCm39) I679S possibly damaging Het
Klhl10 A G 11: 100,347,240 (GRCm39) Y478C probably damaging Het
Mapt A G 11: 104,178,009 (GRCm39) D54G probably damaging Het
Mocs1 A G 17: 49,740,229 (GRCm39) E52G probably benign Het
Plekhn1 T G 4: 156,307,820 (GRCm39) T369P probably damaging Het
Prdm6 T A 18: 53,673,357 (GRCm39) F172L probably benign Het
Prl7b1 A T 13: 27,788,573 (GRCm39) V94D probably damaging Het
Rasal2 T C 1: 156,975,387 (GRCm39) T1116A probably benign Het
Rreb1 A T 13: 38,114,767 (GRCm39) K709* probably null Het
Ruvbl1 A T 6: 88,468,550 (GRCm39) R357W probably damaging Het
Slc4a5 T C 6: 83,273,579 (GRCm39) L973P probably damaging Het
Srp72 A G 5: 77,132,023 (GRCm39) Y234C probably damaging Het
Synrg G A 11: 83,930,072 (GRCm39) M1070I probably damaging Het
Zan A T 5: 137,462,512 (GRCm39) I889K possibly damaging Het
Zbtb40 G A 4: 136,714,651 (GRCm39) T1046M probably damaging Het
Zfp978 A G 4: 147,475,317 (GRCm39) N288S probably benign Het
Zfpm2 A T 15: 40,962,683 (GRCm39) K247M probably damaging Het
Other mutations in Gbp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01721:Gbp6 APN 5 105,422,073 (GRCm39) missense probably benign 0.01
IGL02310:Gbp6 APN 5 105,438,841 (GRCm39) missense probably benign 0.00
IGL02432:Gbp6 APN 5 105,422,228 (GRCm39) missense probably benign
R5703:Gbp6 UTSW 5 105,421,147 (GRCm39) missense probably benign 0.00
R7834:Gbp6 UTSW 5 105,421,131 (GRCm39) missense probably benign 0.41
Posted On 2015-08-05