Incidental Mutation 'R0786:Gbp3'
ID 76846
Institutional Source Beutler Lab
Gene Symbol Gbp3
Ensembl Gene ENSMUSG00000028268
Gene Name guanylate binding protein 3
Synonyms
MMRRC Submission 038966-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0786 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 142265787-142278970 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 142276732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 510 (M510K)
Ref Sequence ENSEMBL: ENSMUSP00000101829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029935] [ENSMUST00000106221] [ENSMUST00000106222]
AlphaFold Q61107
Predicted Effect possibly damaging
Transcript: ENSMUST00000029935
AA Change: M510K

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029935
Gene: ENSMUSG00000028268
AA Change: M510K

DomainStartEndE-ValueType
Pfam:GBP 12 275 7.2e-126 PFAM
Pfam:GBP_C 277 573 2.6e-126 PFAM
low complexity region 605 620 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106221
AA Change: M510K

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101828
Gene: ENSMUSG00000028268
AA Change: M510K

DomainStartEndE-ValueType
Pfam:GBP 12 275 7.2e-126 PFAM
Pfam:GBP_C 277 573 2.6e-126 PFAM
low complexity region 605 620 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106222
AA Change: M510K

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101829
Gene: ENSMUSG00000028268
AA Change: M510K

DomainStartEndE-ValueType
Pfam:GBP 12 275 9.6e-125 PFAM
Pfam:GBP_C 277 573 2.6e-126 PFAM
low complexity region 605 620 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 92.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanylate-binding proteins, such as GBP4, are induced by interferon and hydrolyze GTP to both GDP and GMP (Vestal, 2005 [PubMed 16108726]).[supplied by OMIM, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb3 T C 8: 27,716,880 (GRCm39) probably benign Het
Atg2b T C 12: 105,602,767 (GRCm39) H1592R probably benign Het
Bpifb1 C T 2: 154,044,581 (GRCm39) A16V probably benign Het
Cep57 T A 9: 13,721,166 (GRCm39) Y271F probably damaging Het
Cfap54 A T 10: 92,803,397 (GRCm39) N1548K possibly damaging Het
Chrna6 A T 8: 27,898,408 (GRCm39) D103E probably benign Het
Clec12b T C 6: 129,357,651 (GRCm39) N69S probably benign Het
Col27a1 T C 4: 63,209,815 (GRCm39) probably null Het
Cwh43 T A 5: 73,565,526 (GRCm39) Y30* probably null Het
Dnai7 A G 6: 145,127,483 (GRCm39) probably null Het
Dsg4 T C 18: 20,582,429 (GRCm39) probably null Het
Efna3 T C 3: 89,223,880 (GRCm39) N103S probably damaging Het
Efr3a A G 15: 65,725,400 (GRCm39) D532G possibly damaging Het
Fam227a A T 15: 79,510,469 (GRCm39) V395D probably benign Het
Fes T A 7: 80,036,668 (GRCm39) D93V probably damaging Het
Gpr12 A T 5: 146,520,314 (GRCm39) S44T probably damaging Het
Gpr179 T C 11: 97,234,100 (GRCm39) N583S probably damaging Het
Hipk1 T C 3: 103,651,620 (GRCm39) T1093A probably benign Het
Hspb1 T C 5: 135,918,097 (GRCm39) L148P probably damaging Het
Kirrel3 A G 9: 34,946,161 (GRCm39) N640S probably damaging Het
Mak G T 13: 41,199,545 (GRCm39) Q365K probably benign Het
Melk A G 4: 44,303,649 (GRCm39) Y14C unknown Het
Myh7 T C 14: 55,230,330 (GRCm39) M1V probably null Het
Nsmf A G 2: 24,950,522 (GRCm39) Y330C probably damaging Het
Parp14 A G 16: 35,661,172 (GRCm39) F1592S possibly damaging Het
Pnpla6 A T 8: 3,573,317 (GRCm39) I394F probably benign Het
Ppl T C 16: 4,906,918 (GRCm39) R1126G probably damaging Het
Prss8 C T 7: 127,525,646 (GRCm39) R291Q probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rasgrp1 G T 2: 117,130,980 (GRCm39) D155E probably benign Het
Recql5 T C 11: 115,786,628 (GRCm39) I563V probably benign Het
Rhbg C T 3: 88,151,875 (GRCm39) M394I probably benign Het
Rnf130 A G 11: 49,978,264 (GRCm39) D275G probably damaging Het
Smg9 T C 7: 24,120,289 (GRCm39) F421S probably benign Het
Tgm2 T C 2: 157,966,301 (GRCm39) E451G probably damaging Het
Tle1 T A 4: 72,117,598 (GRCm39) T21S probably damaging Het
Tmc5 T C 7: 118,226,433 (GRCm39) I266T possibly damaging Het
Tmigd3 T A 3: 105,824,318 (GRCm39) C96S probably damaging Het
Trdn A T 10: 33,181,077 (GRCm39) T361S probably benign Het
Vgll3 A T 16: 65,657,568 (GRCm39) Q261L probably benign Het
Vmn2r104 A T 17: 20,262,987 (GRCm39) I158K probably benign Het
Zfp964 A G 8: 70,116,731 (GRCm39) K444E possibly damaging Het
Other mutations in Gbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Gbp3 APN 3 142,271,005 (GRCm39) unclassified probably benign
IGL01067:Gbp3 APN 3 142,272,358 (GRCm39) splice site probably null
IGL02965:Gbp3 APN 3 142,273,343 (GRCm39) missense probably benign 0.31
R0136:Gbp3 UTSW 3 142,269,862 (GRCm39) splice site probably null
R0609:Gbp3 UTSW 3 142,273,533 (GRCm39) missense probably damaging 0.99
R0671:Gbp3 UTSW 3 142,271,151 (GRCm39) missense probably benign 0.17
R0673:Gbp3 UTSW 3 142,271,015 (GRCm39) missense probably benign 0.45
R2511:Gbp3 UTSW 3 142,276,343 (GRCm39) missense probably benign 0.31
R3909:Gbp3 UTSW 3 142,272,099 (GRCm39) unclassified probably benign
R3912:Gbp3 UTSW 3 142,272,099 (GRCm39) unclassified probably benign
R4816:Gbp3 UTSW 3 142,273,335 (GRCm39) missense probably damaging 0.99
R5822:Gbp3 UTSW 3 142,272,239 (GRCm39) missense probably benign 0.01
R6046:Gbp3 UTSW 3 142,273,560 (GRCm39) missense possibly damaging 0.81
R6328:Gbp3 UTSW 3 142,274,819 (GRCm39) missense probably benign 0.01
R7186:Gbp3 UTSW 3 142,269,923 (GRCm39) missense probably damaging 0.97
R7536:Gbp3 UTSW 3 142,272,156 (GRCm39) missense probably damaging 1.00
R7543:Gbp3 UTSW 3 142,272,341 (GRCm39) missense probably damaging 0.97
R7602:Gbp3 UTSW 3 142,274,822 (GRCm39) missense probably benign 0.00
R7677:Gbp3 UTSW 3 142,266,264 (GRCm39) start gained probably benign
R7764:Gbp3 UTSW 3 142,271,024 (GRCm39) missense probably benign 0.37
R7923:Gbp3 UTSW 3 142,273,373 (GRCm39) missense probably damaging 1.00
R9099:Gbp3 UTSW 3 142,271,048 (GRCm39) missense probably benign 0.02
R9102:Gbp3 UTSW 3 142,273,586 (GRCm39) missense probably benign 0.01
R9440:Gbp3 UTSW 3 142,272,335 (GRCm39) missense possibly damaging 0.63
R9459:Gbp3 UTSW 3 142,270,707 (GRCm39) critical splice acceptor site probably null
R9760:Gbp3 UTSW 3 142,276,283 (GRCm39) missense probably benign 0.01
X0025:Gbp3 UTSW 3 142,272,193 (GRCm39) missense probably benign 0.42
X0062:Gbp3 UTSW 3 142,267,535 (GRCm39) missense probably damaging 1.00
Z1176:Gbp3 UTSW 3 142,267,624 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATGATGCTGGCCCGGCTAATG -3'
(R):5'- GGCTTCAGTAAGACCCAAGTGGAC -3'

Sequencing Primer
(F):5'- CTACAAGCCCTGGCTACATT -3'
(R):5'- TGCAAGTTGAAGTTACAGGCTC -3'
Posted On 2013-10-16