Incidental Mutation 'IGL00094:Gbp9'
ID 1643
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 # IGL00094
Quality Score
Status
Chromosome 5
Chromosomal Location 105224332-105258255 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105229130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 506 (K506E)
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: K506E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
AA Change: K506E

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: K506E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
AA Change: K506E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199453
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T A 5: 125,591,254 (GRCm39) N547K probably benign Het
Abca13 A G 11: 9,247,443 (GRCm39) T2397A probably benign Het
Abcc1 A G 16: 14,288,398 (GRCm39) N1341S probably null Het
Adcy9 T A 16: 4,122,446 (GRCm39) I535L probably benign Het
Akap6 A G 12: 53,187,763 (GRCm39) S1726G possibly damaging Het
Ap3d1 T C 10: 80,577,813 (GRCm39) M5V probably benign Het
Ash1l T A 3: 88,889,019 (GRCm39) N299K probably benign Het
B3gnt2 C T 11: 22,786,151 (GRCm39) V346I probably benign Het
Ceacam14 G A 7: 17,548,062 (GRCm39) V51I probably damaging Het
Cfap69 T C 5: 5,634,682 (GRCm39) D812G probably damaging Het
Cfap97d1 A G 11: 101,881,646 (GRCm39) E114G possibly damaging Het
Chrna9 T C 5: 66,126,600 (GRCm39) V118A probably benign Het
Cpsf7 A G 19: 10,517,151 (GRCm39) R418G probably damaging Het
Csnk1g3 T C 18: 54,052,075 (GRCm39) Y215H probably damaging Het
Dcaf5 A C 12: 80,386,097 (GRCm39) N676K probably benign Het
Dld A T 12: 31,385,576 (GRCm39) M255K probably benign Het
Esr2 A T 12: 76,180,670 (GRCm39) L417H probably damaging Het
Fsip2 T A 2: 82,820,730 (GRCm39) S5488T probably benign Het
Gatb A T 3: 85,509,227 (GRCm39) I130L possibly damaging Het
Hkdc1 T C 10: 62,229,568 (GRCm39) N703S probably damaging Het
Itgb3 T A 11: 104,524,410 (GRCm39) V182E probably damaging Het
Itih4 A T 14: 30,617,426 (GRCm39) Y582F probably damaging Het
Lancl2 T A 6: 57,701,522 (GRCm39) probably benign Het
Lgals3 A G 14: 47,622,175 (GRCm39) K197R probably benign Het
Lipe T C 7: 25,082,977 (GRCm39) T767A probably damaging Het
Lrp2 T A 2: 69,338,123 (GRCm39) D1219V probably damaging Het
Lrriq3 T A 3: 154,806,698 (GRCm39) C116S probably benign Het
Mcm5 T G 8: 75,851,573 (GRCm39) probably null Het
Mtpn G T 6: 35,499,711 (GRCm39) T31K probably damaging Het
Mycbp2 A T 14: 103,460,486 (GRCm39) Y1494N probably damaging Het
Nbeal1 G T 1: 60,274,350 (GRCm39) E498* probably null Het
Nos1 T G 5: 118,048,165 (GRCm39) S657A probably damaging Het
Nr3c1 A T 18: 39,561,661 (GRCm39) probably null Het
Or12e7 T A 2: 87,288,271 (GRCm39) V254E probably damaging Het
Or13a17 A T 7: 140,271,349 (GRCm39) H177L probably damaging Het
Or4c127 T A 2: 89,833,365 (GRCm39) I205N possibly damaging Het
Or7g32 T A 9: 19,408,155 (GRCm39) I37N probably damaging Het
Or8g20 T C 9: 39,395,944 (GRCm39) I202V probably benign Het
Or8s8 T G 15: 98,354,299 (GRCm39) V36G possibly damaging Het
Or9i1 A T 19: 13,839,150 (GRCm39) probably benign Het
Osbp2 T G 11: 3,661,848 (GRCm39) S735R probably benign Het
Otop3 A T 11: 115,235,279 (GRCm39) T304S probably benign Het
Pcdhac2 A T 18: 37,278,128 (GRCm39) L369F probably damaging Het
Pick1 T C 15: 79,131,457 (GRCm39) probably benign Het
Prlhr A T 19: 60,456,119 (GRCm39) V149E probably damaging Het
Prss12 G A 3: 123,280,598 (GRCm39) probably benign Het
Rab19 A T 6: 39,365,132 (GRCm39) probably benign Het
Ralgapb T C 2: 158,262,776 (GRCm39) W5R probably damaging Het
Rfx4 T A 10: 84,676,063 (GRCm39) L44Q probably damaging Het
Scube2 T C 7: 109,407,661 (GRCm39) T760A probably damaging Het
Shcbp1 A C 8: 4,804,258 (GRCm39) Y145* probably null Het
Snx31 T A 15: 36,545,761 (GRCm39) probably null Het
Spopl A T 2: 23,427,643 (GRCm39) V163E possibly damaging Het
Sqor T C 2: 122,629,463 (GRCm39) I107T probably damaging Het
Tcte1 T C 17: 45,845,854 (GRCm39) F153L probably damaging Het
Tnfrsf11b T A 15: 54,123,238 (GRCm39) H121L probably damaging Het
Tnip1 G T 11: 54,831,643 (GRCm39) Y10* probably null Het
Tnxb G T 17: 34,904,603 (GRCm39) G1123C probably damaging Het
Wdr62 T C 7: 29,942,948 (GRCm39) E515G probably benign Het
Zfand1 A T 3: 10,413,590 (GRCm39) D32E probably null Het
Zfp112 A C 7: 23,821,668 (GRCm39) T3P probably damaging Het
Other mutations in Gbp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Gbp9 APN 5 105,241,943 (GRCm39) missense probably benign 0.05
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 2011-07-12