Incidental Mutation 'R1655:Gbp9'
ID 189014
Institutional Source Beutler Lab
Gene Symbol Gbp9
Ensembl Gene ENSMUSG00000029298
Gene Name guanylate-binding protein 9
Synonyms
MMRRC Submission 039691-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R1655 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 105077630-105139539 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105081692 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 472 (Q472L)
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 possibly damaging
Transcript: ENSMUST00000031238
AA Change: Q472L

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
AA Change: Q472L

DomainStartEndE-ValueType
Pfam:GBP 16 279 1.2e-117 PFAM
Pfam:GBP_C 281 575 4.5e-115 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000100961
AA Change: Q472L

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
AA Change: Q472L

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
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833427G06Rik A T 9: 51,083,621 (GRCm38) I136N probably damaging Het
9530053A07Rik A T 7: 28,147,110 (GRCm38) N1076Y probably damaging Het
A730061H03Rik A T 14: 55,560,333 (GRCm38) probably benign Het
Abca1 C T 4: 53,050,964 (GRCm38) A1582T probably benign Het
Acot8 A T 2: 164,803,108 (GRCm38) S52T probably benign Het
Atcay C T 10: 81,213,397 (GRCm38) V124M probably damaging Het
Cep295 C T 9: 15,340,883 (GRCm38) E397K probably damaging Het
Cfap46 A T 7: 139,642,520 (GRCm38) Y1180* probably null Het
Clptm1 T A 7: 19,645,867 (GRCm38) H148L probably benign Het
Clstn3 A G 6: 124,437,427 (GRCm38) L743P probably damaging Het
Crtc3 A T 7: 80,598,776 (GRCm38) M313K possibly damaging Het
Csgalnact1 T A 8: 68,373,689 (GRCm38) I326F possibly damaging Het
Dennd6b G T 15: 89,196,340 (GRCm38) T19K unknown Het
Disp1 A T 1: 183,087,004 (GRCm38) I1284N probably benign Het
Dnah2 A G 11: 69,473,854 (GRCm38) Y1992H probably damaging Het
Dnah6 C T 6: 73,205,732 (GRCm38) V205I possibly damaging Het
Dst G T 1: 34,282,576 (GRCm38) G4391* probably null Het
Dytn A G 1: 63,661,198 (GRCm38) S258P probably damaging Het
Emilin3 T A 2: 160,910,866 (GRCm38) probably null Het
Ermn C T 2: 58,052,584 (GRCm38) V45I probably benign Het
Fat4 T C 3: 38,957,318 (GRCm38) V2189A probably damaging Het
Filip1l T C 16: 57,571,851 (GRCm38) I934T probably damaging Het
Gimap5 G T 6: 48,753,176 (GRCm38) E227* probably null Het
Gsdmc C T 15: 63,780,043 (GRCm38) V240M probably benign Het
H2-Q4 G T 17: 35,382,905 (GRCm38) V248F probably damaging Het
Helz2 T C 2: 181,234,147 (GRCm38) E1518G probably damaging Het
Hmcn1 A G 1: 150,630,333 (GRCm38) V3814A probably benign Het
Ifna7 A G 4: 88,816,660 (GRCm38) T145A probably benign Het
Itgam T A 7: 128,115,163 (GRCm38) M947K probably benign Het
Itpr2 T G 6: 146,376,148 (GRCm38) N608H probably damaging Het
Klra2 T A 6: 131,220,211 (GRCm38) N242I probably damaging Het
Lonrf2 A T 1: 38,811,824 (GRCm38) L219Q probably damaging Het
Ly6c2 T C 15: 75,108,563 (GRCm38) I126V probably benign Het
Mr1 G A 1: 155,132,455 (GRCm38) T258M probably benign Het
Mrps35 T G 6: 147,060,228 (GRCm38) D200E possibly damaging Het
Nbeal2 A C 9: 110,632,872 (GRCm38) S1506A probably damaging Het
Ncoa7 T C 10: 30,698,245 (GRCm38) probably null Het
Nlrp4a A T 7: 26,449,651 (GRCm38) I228F possibly damaging Het
Olfr1047 A G 2: 86,228,080 (GRCm38) V297A possibly damaging Het
Olfr1339 A G 4: 118,734,999 (GRCm38) S157G probably benign Het
Olfr368 A G 2: 37,331,939 (GRCm38) Y64C probably damaging Het
Olfr483 A T 7: 108,103,464 (GRCm38) I52F probably damaging Het
Paxx T C 2: 25,460,316 (GRCm38) E93G probably damaging Het
Per2 C A 1: 91,448,768 (GRCm38) G128W probably damaging Het
Piezo1 A G 8: 122,496,822 (GRCm38) I796T probably benign Het
Pkhd1 A G 1: 20,584,129 (GRCm38) S235P probably damaging Het
Pole T A 5: 110,335,922 (GRCm38) F259Y probably damaging Het
Pus7 T A 5: 23,747,800 (GRCm38) K512* probably null Het
Ralyl A T 3: 14,107,236 (GRCm38) Y55F probably damaging Het
Rgs14 T A 13: 55,383,534 (GRCm38) M451K probably benign Het
Rhag T C 17: 40,831,596 (GRCm38) F231L probably damaging Het
Ric8a T C 7: 140,860,895 (GRCm38) C94R probably benign Het
Rictor T A 15: 6,772,212 (GRCm38) D460E probably benign Het
Rpn1 T C 6: 88,100,944 (GRCm38) V454A possibly damaging Het
Sacs A G 14: 61,191,782 (GRCm38) D427G probably benign Het
Scai A T 2: 39,080,117 (GRCm38) V545D possibly damaging Het
Serpinb3a A G 1: 107,046,212 (GRCm38) V323A probably damaging Het
Slc13a5 C A 11: 72,257,378 (GRCm38) C277F probably benign Het
Slc15a1 A T 14: 121,465,899 (GRCm38) Y557N probably benign Het
Slc34a2 T C 5: 53,069,419 (GRCm38) V628A probably benign Het
Slc8a2 G T 7: 16,141,135 (GRCm38) G436V probably damaging Het
Sphkap G A 1: 83,277,515 (GRCm38) R838* probably null Het
Supt5 T C 7: 28,330,024 (GRCm38) I103V probably benign Het
Tdrd1 T A 19: 56,843,216 (GRCm38) Y346* probably null Het
Tg T G 15: 66,828,568 (GRCm38) probably null Het
Top1 T A 2: 160,703,696 (GRCm38) probably null Het
Trmt12 T C 15: 58,873,227 (GRCm38) L158P probably damaging Het
Tssk4 A G 14: 55,651,695 (GRCm38) N226S probably damaging Het
Unc80 G T 1: 66,672,756 (GRCm38) V2746F possibly damaging Het
Usp34 T A 11: 23,375,051 (GRCm38) V999E probably benign Het
Virma T C 4: 11,494,786 (GRCm38) V29A probably damaging Het
Zfp40 A T 17: 23,177,266 (GRCm38) Y48N probably benign Het
Zfp609 A G 9: 65,703,554 (GRCm38) V709A possibly damaging Het
Other mutations in Gbp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Gbp9 APN 5 105,081,264 (GRCm38) missense probably benign 0.01
IGL00419:Gbp9 APN 5 105,094,077 (GRCm38) missense probably benign 0.05
IGL00425:Gbp9 APN 5 105,105,754 (GRCm38) missense possibly damaging 0.82
IGL00597:Gbp9 APN 5 105,094,498 (GRCm38) missense probably damaging 1.00
IGL01362:Gbp9 APN 5 105,080,206 (GRCm38) missense probably damaging 1.00
IGL01679:Gbp9 APN 5 105,085,172 (GRCm38) splice site probably null
IGL01803:Gbp9 APN 5 105,085,018 (GRCm38) missense probably damaging 0.99
IGL01803:Gbp9 APN 5 105,094,173 (GRCm38) missense probably damaging 1.00
IGL02054:Gbp9 APN 5 105,082,807 (GRCm38) missense probably benign 0.12
IGL02474:Gbp9 APN 5 105,094,567 (GRCm38) splice site probably benign
IGL02633:Gbp9 APN 5 105,083,565 (GRCm38) splice site probably benign
IGL02666:Gbp9 APN 5 105,094,275 (GRCm38) splice site probably null
IGL02689:Gbp9 APN 5 105,105,796 (GRCm38) missense probably benign 0.11
IGL02812:Gbp9 APN 5 105,083,758 (GRCm38) missense probably damaging 1.00
IGL03132:Gbp9 APN 5 105,084,953 (GRCm38) missense possibly damaging 0.83
IGL03274:Gbp9 APN 5 105,082,786 (GRCm38) missense possibly damaging 0.58
R0410:Gbp9 UTSW 5 105,085,073 (GRCm38) missense probably benign 0.17
R1018:Gbp9 UTSW 5 105,080,260 (GRCm38) missense probably benign 0.15
R1479:Gbp9 UTSW 5 105,094,064 (GRCm38) splice site probably benign
R1658:Gbp9 UTSW 5 105,094,468 (GRCm38) missense probably damaging 0.98
R1757:Gbp9 UTSW 5 105,094,453 (GRCm38) missense probably damaging 1.00
R1950:Gbp9 UTSW 5 105,081,246 (GRCm38) missense probably benign 0.01
R1986:Gbp9 UTSW 5 105,105,786 (GRCm38) missense probably damaging 0.98
R1986:Gbp9 UTSW 5 105,105,724 (GRCm38) missense probably damaging 1.00
R2124:Gbp9 UTSW 5 105,094,543 (GRCm38) missense probably damaging 1.00
R2302:Gbp9 UTSW 5 105,094,092 (GRCm38) missense possibly damaging 0.47
R2378:Gbp9 UTSW 5 105,080,176 (GRCm38) missense probably benign 0.02
R2997:Gbp9 UTSW 5 105,082,769 (GRCm38) missense probably benign 0.00
R3745:Gbp9 UTSW 5 105,105,858 (GRCm38) start gained probably benign
R4182:Gbp9 UTSW 5 105,083,595 (GRCm38) missense probably benign 0.08
R4485:Gbp9 UTSW 5 105,083,808 (GRCm38) missense probably damaging 0.97
R4718:Gbp9 UTSW 5 105,083,758 (GRCm38) missense probably damaging 1.00
R5063:Gbp9 UTSW 5 105,085,162 (GRCm38) missense probably benign
R5099:Gbp9 UTSW 5 105,094,513 (GRCm38) missense probably damaging 1.00
R5104:Gbp9 UTSW 5 105,080,141 (GRCm38) missense probably benign 0.00
R5199:Gbp9 UTSW 5 105,083,812 (GRCm38) missense probably benign 0.04
R5712:Gbp9 UTSW 5 105,094,555 (GRCm38) missense possibly damaging 0.80
R5751:Gbp9 UTSW 5 105,081,258 (GRCm38) missense probably benign 0.06
R5895:Gbp9 UTSW 5 105,082,858 (GRCm38) missense probably damaging 1.00
R6360:Gbp9 UTSW 5 105,083,730 (GRCm38) missense probably benign 0.03
R6646:Gbp9 UTSW 5 105,082,903 (GRCm38) missense probably benign 0.13
R7559:Gbp9 UTSW 5 105,085,109 (GRCm38) missense probably damaging 1.00
R7819:Gbp9 UTSW 5 105,103,879 (GRCm38) missense possibly damaging 0.65
R8042:Gbp9 UTSW 5 105,094,242 (GRCm38) missense probably damaging 1.00
R8288:Gbp9 UTSW 5 105,105,733 (GRCm38) missense probably damaging 1.00
R8303:Gbp9 UTSW 5 105,081,305 (GRCm38) missense possibly damaging 0.94
R8354:Gbp9 UTSW 5 105,094,161 (GRCm38) missense probably damaging 0.97
R8395:Gbp9 UTSW 5 105,080,203 (GRCm38) missense probably damaging 1.00
R8397:Gbp9 UTSW 5 105,083,598 (GRCm38) missense possibly damaging 0.94
R8751:Gbp9 UTSW 5 105,081,251 (GRCm38) missense possibly damaging 0.49
R8808:Gbp9 UTSW 5 105,085,009 (GRCm38) missense probably damaging 1.00
R9105:Gbp9 UTSW 5 105,094,076 (GRCm38) missense probably benign 0.11
R9116:Gbp9 UTSW 5 105,083,829 (GRCm38) missense
R9354:Gbp9 UTSW 5 105,084,959 (GRCm38) missense possibly damaging 0.79
R9513:Gbp9 UTSW 5 105,081,225 (GRCm38) missense probably benign 0.06
R9709:Gbp9 UTSW 5 105,083,676 (GRCm38) missense probably damaging 0.99
R9717:Gbp9 UTSW 5 105,105,721 (GRCm38) nonsense probably null
Z1088:Gbp9 UTSW 5 105,094,125 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACACACCGAGAACTGCCTGTTG -3'
(R):5'- GAAGTATCCACTGCCACTGAAGAGC -3'

Sequencing Primer
(F):5'- GAACTGCCTGTTGCTTCCAAG -3'
(R):5'- TGAGCCATGTGCAGGCTTC -3'
Posted On 2014-05-09