Incidental Mutation 'IGL00419:Gbp9'
ID 5574
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gbp9
Ensembl Gene ENSMUSG00000029298
Gene Name guanylate-binding protein 9
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL00419
Quality Score
Status
Chromosome 5
Chromosomal Location 105224332-105258255 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105241943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 205 (I205V)
Ref Sequence ENSEMBL: ENSMUSP00000098521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031235] [ENSMUST00000031238] [ENSMUST00000100961]
AlphaFold Q8BTS3
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000031238
AA Change: I205V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
AA Change: I205V

DomainStartEndE-ValueType
Pfam:GBP 16 279 1.2e-117 PFAM
Pfam:GBP_C 281 575 4.5e-115 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100961
AA Change: I205V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
AA Change: I205V

DomainStartEndE-ValueType
Pfam:GBP 16 279 3.8e-124 PFAM
Pfam:GBP_C 281 575 4.5e-115 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196820
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1a4 A C 1: 172,067,373 (GRCm39) N586K probably damaging Het
AU040320 T C 4: 126,686,027 (GRCm39) M201T probably benign Het
Bcap29 A T 12: 31,680,871 (GRCm39) F38L probably benign Het
Bdkrb2 A G 12: 105,554,562 (GRCm39) probably benign Het
Ceacam5 G T 7: 17,493,481 (GRCm39) E835* probably null Het
Cenpp T C 13: 49,801,132 (GRCm39) probably null Het
Clca3a2 A G 3: 144,804,574 (GRCm39) V51A probably damaging Het
Dmxl2 T C 9: 54,313,951 (GRCm39) N1660D probably damaging Het
Exosc9 T C 3: 36,607,288 (GRCm39) probably benign Het
Ezh1 T C 11: 101,085,332 (GRCm39) probably null Het
Fbxo24 G A 5: 137,622,563 (GRCm39) R68C probably damaging Het
Gpc5 A G 14: 115,607,436 (GRCm39) Y346C probably damaging Het
Hectd1 A G 12: 51,810,818 (GRCm39) Y1706H probably damaging Het
Igsf9b A G 9: 27,230,951 (GRCm39) Y318C probably damaging Het
Map1a A T 2: 121,129,508 (GRCm39) Q182L probably damaging Het
Rab11fip3 A T 17: 26,210,783 (GRCm39) probably benign Het
Rbm20 G A 19: 53,831,695 (GRCm39) R643Q probably damaging Het
Ros1 A T 10: 51,967,150 (GRCm39) C1707S probably damaging Het
Rpgrip1l G T 8: 91,990,202 (GRCm39) R747S possibly damaging Het
Rsph10b T C 5: 143,873,905 (GRCm39) *166R probably null Het
Sft2d1 G A 17: 8,539,437 (GRCm39) C80Y possibly damaging Het
Zdhhc14 T C 17: 5,802,959 (GRCm39) probably benign Het
Zfp300 T A X: 20,948,531 (GRCm39) Y411F probably damaging Het
Zfp92 T C X: 72,463,764 (GRCm39) probably benign Het
Zhx1 A G 15: 57,916,711 (GRCm39) F512L probably damaging Het
Other mutations in Gbp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Gbp9 APN 5 105,229,130 (GRCm39) missense probably benign 0.01
IGL00425:Gbp9 APN 5 105,253,620 (GRCm39) missense possibly damaging 0.82
IGL00597:Gbp9 APN 5 105,242,364 (GRCm39) missense probably damaging 1.00
IGL01362:Gbp9 APN 5 105,228,072 (GRCm39) missense probably damaging 1.00
IGL01679:Gbp9 APN 5 105,233,038 (GRCm39) splice site probably null
IGL01803:Gbp9 APN 5 105,232,884 (GRCm39) missense probably damaging 0.99
IGL01803:Gbp9 APN 5 105,242,039 (GRCm39) missense probably damaging 1.00
IGL02054:Gbp9 APN 5 105,230,673 (GRCm39) missense probably benign 0.12
IGL02474:Gbp9 APN 5 105,242,433 (GRCm39) splice site probably benign
IGL02633:Gbp9 APN 5 105,231,431 (GRCm39) splice site probably benign
IGL02666:Gbp9 APN 5 105,242,141 (GRCm39) splice site probably null
IGL02689:Gbp9 APN 5 105,253,662 (GRCm39) missense probably benign 0.11
IGL02812:Gbp9 APN 5 105,231,624 (GRCm39) missense probably damaging 1.00
IGL03132:Gbp9 APN 5 105,232,819 (GRCm39) missense possibly damaging 0.83
IGL03274:Gbp9 APN 5 105,230,652 (GRCm39) missense possibly damaging 0.58
R0410:Gbp9 UTSW 5 105,232,939 (GRCm39) missense probably benign 0.17
R1018:Gbp9 UTSW 5 105,228,126 (GRCm39) missense probably benign 0.15
R1479:Gbp9 UTSW 5 105,241,930 (GRCm39) splice site probably benign
R1655:Gbp9 UTSW 5 105,229,558 (GRCm39) missense possibly damaging 0.76
R1658:Gbp9 UTSW 5 105,242,334 (GRCm39) missense probably damaging 0.98
R1757:Gbp9 UTSW 5 105,242,319 (GRCm39) missense probably damaging 1.00
R1950:Gbp9 UTSW 5 105,229,112 (GRCm39) missense probably benign 0.01
R1986:Gbp9 UTSW 5 105,253,652 (GRCm39) missense probably damaging 0.98
R1986:Gbp9 UTSW 5 105,253,590 (GRCm39) missense probably damaging 1.00
R2124:Gbp9 UTSW 5 105,242,409 (GRCm39) missense probably damaging 1.00
R2302:Gbp9 UTSW 5 105,241,958 (GRCm39) missense possibly damaging 0.47
R2378:Gbp9 UTSW 5 105,228,042 (GRCm39) missense probably benign 0.02
R2997:Gbp9 UTSW 5 105,230,635 (GRCm39) missense probably benign 0.00
R3745:Gbp9 UTSW 5 105,253,724 (GRCm39) start gained probably benign
R4182:Gbp9 UTSW 5 105,231,461 (GRCm39) missense probably benign 0.08
R4485:Gbp9 UTSW 5 105,231,674 (GRCm39) missense probably damaging 0.97
R4718:Gbp9 UTSW 5 105,231,624 (GRCm39) missense probably damaging 1.00
R5063:Gbp9 UTSW 5 105,233,028 (GRCm39) missense probably benign
R5099:Gbp9 UTSW 5 105,242,379 (GRCm39) missense probably damaging 1.00
R5104:Gbp9 UTSW 5 105,228,007 (GRCm39) missense probably benign 0.00
R5199:Gbp9 UTSW 5 105,231,678 (GRCm39) missense probably benign 0.04
R5712:Gbp9 UTSW 5 105,242,421 (GRCm39) missense possibly damaging 0.80
R5751:Gbp9 UTSW 5 105,229,124 (GRCm39) missense probably benign 0.06
R5895:Gbp9 UTSW 5 105,230,724 (GRCm39) missense probably damaging 1.00
R6360:Gbp9 UTSW 5 105,231,596 (GRCm39) missense probably benign 0.03
R6646:Gbp9 UTSW 5 105,230,769 (GRCm39) missense probably benign 0.13
R7559:Gbp9 UTSW 5 105,232,975 (GRCm39) missense probably damaging 1.00
R7819:Gbp9 UTSW 5 105,251,745 (GRCm39) missense possibly damaging 0.65
R8042:Gbp9 UTSW 5 105,242,108 (GRCm39) missense probably damaging 1.00
R8288:Gbp9 UTSW 5 105,253,599 (GRCm39) missense probably damaging 1.00
R8303:Gbp9 UTSW 5 105,229,171 (GRCm39) missense possibly damaging 0.94
R8354:Gbp9 UTSW 5 105,242,027 (GRCm39) missense probably damaging 0.97
R8395:Gbp9 UTSW 5 105,228,069 (GRCm39) missense probably damaging 1.00
R8397:Gbp9 UTSW 5 105,231,464 (GRCm39) missense possibly damaging 0.94
R8751:Gbp9 UTSW 5 105,229,117 (GRCm39) missense possibly damaging 0.49
R8808:Gbp9 UTSW 5 105,232,875 (GRCm39) missense probably damaging 1.00
R9105:Gbp9 UTSW 5 105,241,942 (GRCm39) missense probably benign 0.11
R9116:Gbp9 UTSW 5 105,231,695 (GRCm39) missense
R9354:Gbp9 UTSW 5 105,232,825 (GRCm39) missense possibly damaging 0.79
R9513:Gbp9 UTSW 5 105,229,091 (GRCm39) missense probably benign 0.06
R9709:Gbp9 UTSW 5 105,231,542 (GRCm39) missense probably damaging 0.99
R9717:Gbp9 UTSW 5 105,253,587 (GRCm39) nonsense probably null
Z1088:Gbp9 UTSW 5 105,241,991 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20