Incidental Mutation 'R5099:Gbp9'
ID 388171
Institutional Source Beutler Lab
Gene Symbol Gbp9
Ensembl Gene ENSMUSG00000029298
Gene Name guanylate-binding protein 9
Synonyms
MMRRC Submission 042688-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R5099 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 105224332-105258255 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105242379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 120 (L120Q)
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 damaging
Transcript: ENSMUST00000031238
AA Change: L120Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031238
Gene: ENSMUSG00000029298
AA Change: L120Q

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: L120Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298
AA Change: L120Q

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
Meta Mutation Damage Score 0.8347 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (41/42)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arsa A G 15: 89,359,542 (GRCm39) L80P probably damaging Het
Bdkrb1 A G 12: 105,570,533 (GRCm39) D33G probably benign Het
Ccdc178 A T 18: 22,238,648 (GRCm39) V323E probably benign Het
Ceacam5 T C 7: 17,479,513 (GRCm39) V210A probably damaging Het
Dcdc2a A G 13: 25,291,681 (GRCm39) E222G probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gsr T A 8: 34,161,556 (GRCm39) I121N probably damaging Het
Ift140 T A 17: 25,309,674 (GRCm39) M1068K probably damaging Het
Jakmip2 A G 18: 43,701,173 (GRCm39) I414T probably benign Het
Lpin2 G A 17: 71,550,965 (GRCm39) W708* probably null Het
Mecom A G 3: 30,039,465 (GRCm39) probably benign Het
Mff C T 1: 82,728,192 (GRCm39) probably benign Het
Ms4a20 T C 19: 11,089,825 (GRCm39) probably null Het
Neb C T 2: 52,085,460 (GRCm39) C1545Y probably damaging Het
Or5ac24 C T 16: 59,165,266 (GRCm39) G266D probably benign Het
Or5p5 A G 7: 107,413,809 (GRCm39) H6R probably benign Het
Or8k36-ps1 A T 2: 86,437,560 (GRCm39) N118K unknown Het
Ppm1n A T 7: 19,011,903 (GRCm39) L392Q possibly damaging Het
Prr22 T C 17: 57,078,467 (GRCm39) F207L probably benign Het
Ptprv T C 1: 135,046,592 (GRCm39) noncoding transcript Het
Rin2 G A 2: 145,720,821 (GRCm39) C718Y probably damaging Het
Rpgrip1l G A 8: 91,975,350 (GRCm39) T1089I probably benign Het
Scn1a A G 2: 66,108,145 (GRCm39) V1510A probably damaging Het
Slfn3 A T 11: 83,105,764 (GRCm39) Y587F probably damaging Het
Sp2 T C 11: 96,852,175 (GRCm39) K250E probably damaging Het
Ssu2 A G 6: 112,336,585 (GRCm39) S333P probably benign Het
Strbp T C 2: 37,493,030 (GRCm39) T419A probably damaging Het
Tada2b A T 5: 36,633,744 (GRCm39) M203K probably benign Het
Tmem176b T C 6: 48,811,463 (GRCm39) Y62C probably benign Het
Tox G T 4: 6,688,958 (GRCm39) Q469K probably benign Het
Trgv5 G T 13: 19,376,886 (GRCm39) C111F probably damaging Het
Tyw5 T C 1: 57,427,864 (GRCm39) N243D probably damaging Het
Ube2q2 T A 9: 55,113,307 (GRCm39) probably benign Het
Ufl1 C T 4: 25,275,914 (GRCm39) R83Q probably damaging Het
Unk A G 11: 115,949,936 (GRCm39) Q701R probably benign Het
Vmn1r60 A T 7: 5,547,816 (GRCm39) C95S probably damaging Het
Vmn1r81 A G 7: 11,994,248 (GRCm39) I120T possibly damaging Het
Other mutations in Gbp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Gbp9 APN 5 105,229,130 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- GTCATGCACACGCTCTCATG -3'
(R):5'- TCCTTTAACCAGGAGGAGGG -3'

Sequencing Primer
(F):5'- TAAATCATCCTAAACACTCTGCTCTG -3'
(R):5'- CCTTTAACCAGGAGGAGGGTTTTTG -3'
Posted On 2016-06-06