Incidental Mutation 'IGL01803:Gbp9'
ID155568
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gbp9
Ensembl Gene ENSMUSG00000029298
Gene Nameguanylate-binding protein 9
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL01803
Quality Score
Status
Chromosome5
Chromosomal Location105077630-105139539 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 105085018 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 256 (D256G)
Ref Sequence ENSEMBL: ENSMUSP00000098521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031235] [ENSMUST00000031238] [ENSMUST00000100961]
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 damaging
Transcript: ENSMUST00000031238
AA Change: D256G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
AA Change: D256G

DomainStartEndE-ValueType
Pfam:GBP 16 279 1.2e-117 PFAM
Pfam:GBP_C 281 575 4.5e-115 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100961
AA Change: D256G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
AA Change: D256G

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 58,952,469 L532Q probably damaging Het
Bod1l A T 5: 41,817,389 V2194D probably damaging Het
Cenpf G A 1: 189,654,771 Q1771* probably null Het
Cfap100 C A 6: 90,415,735 R131L probably benign Het
Coch A T 12: 51,603,299 Q357L probably benign Het
Col14a1 A G 15: 55,418,814 T824A unknown Het
Dnah9 T C 11: 66,118,829 Y744C probably damaging Het
Dusp13 A G 14: 21,733,839 V201A probably damaging Het
Egf T A 3: 129,736,766 H249L probably benign Het
Elmod1 G A 9: 53,931,480 P132L probably benign Het
Eps8l2 T C 7: 141,358,230 V459A probably benign Het
Fbn1 T C 2: 125,350,287 D1434G probably damaging Het
Fbn1 G A 2: 125,301,725 T2828I probably benign Het
Gm11492 G A 11: 87,568,249 S483N probably benign Het
Gpsm1 G A 2: 26,346,909 A580T probably damaging Het
Hnrnpf T C 6: 117,907,133 probably benign Het
Krt33a T C 11: 100,012,017 E327G probably benign Het
M1ap T A 6: 83,005,584 I283K probably benign Het
Mars2 A G 1: 55,237,996 S253G probably damaging Het
Myh6 A T 14: 54,944,543 M1767K probably damaging Het
Myo3a T A 2: 22,241,115 D16E probably damaging Het
Pitrm1 T A 13: 6,579,435 Y978N probably benign Het
Plekha6 G T 1: 133,272,414 E66* probably null Het
Polk C T 13: 96,504,522 V176M probably damaging Het
Pom121 G T 5: 135,381,609 probably benign Het
Rnf213 T A 11: 119,441,307 D2447E probably damaging Het
Sall3 T C 18: 80,969,832 M1130V possibly damaging Het
Scn3a A G 2: 65,521,783 probably benign Het
Sel1l A T 12: 91,830,730 M241K probably benign Het
Ssh2 T G 11: 77,425,330 L259R probably damaging Het
Tnr G T 1: 159,868,243 G579W probably damaging Het
Vmn1r85 G T 7: 13,084,569 A216D probably damaging Het
Vmn2r83 C A 10: 79,469,060 H35N probably benign Het
Zar1l T A 5: 150,518,104 Y19F probably benign Het
Other mutations in Gbp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Gbp9 APN 5 105081264 missense probably benign 0.01
IGL00419:Gbp9 APN 5 105094077 missense probably benign 0.05
IGL00425:Gbp9 APN 5 105105754 missense possibly damaging 0.82
IGL00597:Gbp9 APN 5 105094498 missense probably damaging 1.00
IGL01362:Gbp9 APN 5 105080206 missense probably damaging 1.00
IGL01679:Gbp9 APN 5 105085172 splice site probably null
IGL01803:Gbp9 APN 5 105094173 missense probably damaging 1.00
IGL02054:Gbp9 APN 5 105082807 missense probably benign 0.12
IGL02474:Gbp9 APN 5 105094567 splice site probably benign
IGL02633:Gbp9 APN 5 105083565 splice site probably benign
IGL02666:Gbp9 APN 5 105094275 splice site probably null
IGL02689:Gbp9 APN 5 105105796 missense probably benign 0.11
IGL02812:Gbp9 APN 5 105083758 missense probably damaging 1.00
IGL03132:Gbp9 APN 5 105084953 missense possibly damaging 0.83
IGL03274:Gbp9 APN 5 105082786 missense possibly damaging 0.58
R0410:Gbp9 UTSW 5 105085073 missense probably benign 0.17
R1018:Gbp9 UTSW 5 105080260 missense probably benign 0.15
R1479:Gbp9 UTSW 5 105094064 splice site probably benign
R1655:Gbp9 UTSW 5 105081692 missense possibly damaging 0.76
R1658:Gbp9 UTSW 5 105094468 missense probably damaging 0.98
R1757:Gbp9 UTSW 5 105094453 missense probably damaging 1.00
R1950:Gbp9 UTSW 5 105081246 missense probably benign 0.01
R1986:Gbp9 UTSW 5 105105724 missense probably damaging 1.00
R1986:Gbp9 UTSW 5 105105786 missense probably damaging 0.98
R2124:Gbp9 UTSW 5 105094543 missense probably damaging 1.00
R2302:Gbp9 UTSW 5 105094092 missense possibly damaging 0.47
R2378:Gbp9 UTSW 5 105080176 missense probably benign 0.02
R2997:Gbp9 UTSW 5 105082769 missense probably benign 0.00
R3745:Gbp9 UTSW 5 105105858 start gained probably benign
R4182:Gbp9 UTSW 5 105083595 missense probably benign 0.08
R4485:Gbp9 UTSW 5 105083808 missense probably damaging 0.97
R4718:Gbp9 UTSW 5 105083758 missense probably damaging 1.00
R5063:Gbp9 UTSW 5 105085162 missense probably benign
R5099:Gbp9 UTSW 5 105094513 missense probably damaging 1.00
R5104:Gbp9 UTSW 5 105080141 missense probably benign 0.00
R5199:Gbp9 UTSW 5 105083812 missense probably benign 0.04
R5712:Gbp9 UTSW 5 105094555 missense possibly damaging 0.80
R5751:Gbp9 UTSW 5 105081258 missense probably benign 0.06
R5895:Gbp9 UTSW 5 105082858 missense probably damaging 1.00
R6360:Gbp9 UTSW 5 105083730 missense probably benign 0.03
R6646:Gbp9 UTSW 5 105082903 missense probably benign 0.13
R7559:Gbp9 UTSW 5 105085109 missense probably damaging 1.00
R7819:Gbp9 UTSW 5 105103879 missense possibly damaging 0.65
R8042:Gbp9 UTSW 5 105094242 missense probably damaging 1.00
Z1088:Gbp9 UTSW 5 105094125 missense probably damaging 1.00
Posted On2014-02-04