Incidental Mutation 'R9440:Gbp3'
ID 713573
Institutional Source Beutler Lab
Gene Symbol Gbp3
Ensembl Gene ENSMUSG00000028268
Gene Name guanylate binding protein 3
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9440 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 142560026-142573209 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142566574 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 279 (V279A)
Ref Sequence ENSEMBL: ENSMUSP00000029935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029935] [ENSMUST00000106221] [ENSMUST00000106222] [ENSMUST00000128609] [ENSMUST00000142060] [ENSMUST00000199325]
AlphaFold Q61107
Predicted Effect possibly damaging
Transcript: ENSMUST00000029935
AA Change: V279A

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029935
Gene: ENSMUSG00000028268
AA Change: V279A

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: V279A

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101828
Gene: ENSMUSG00000028268
AA Change: V279A

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: V279A

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101829
Gene: ENSMUSG00000028268
AA Change: V279A

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
Predicted Effect probably benign
Transcript: ENSMUST00000128609
SMART Domains Protein: ENSMUSP00000117991
Gene: ENSMUSG00000028268

DomainStartEndE-ValueType
Pfam:GBP 12 83 1.1e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142060
SMART Domains Protein: ENSMUSP00000120131
Gene: ENSMUSG00000028268

DomainStartEndE-ValueType
Pfam:GBP 12 136 4.8e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199325
SMART Domains Protein: ENSMUSP00000142411
Gene: ENSMUSG00000028268

DomainStartEndE-ValueType
Pfam:GBP 12 57 8.1e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004E09Rik A T 16: 90,929,944 V116E probably benign Het
Abca17 G A 17: 24,280,478 T1359M probably benign Het
Acacb T A 5: 114,246,024 C2205S possibly damaging Het
Akap3 A G 6: 126,864,628 E70G probably benign Het
Aldh1a3 C A 7: 66,419,244 probably null Het
Asb4 A G 6: 5,429,817 I352M probably benign Het
Bach1 C G 16: 87,719,715 S381R probably benign Het
BC034090 A G 1: 155,226,215 L101P probably benign Het
Bms1 A T 6: 118,405,256 D440E probably benign Het
Bpifb6 A T 2: 153,905,994 D191V probably benign Het
Cfd T C 10: 79,890,982 probably null Het
Cnot3 G A 7: 3,653,561 E252K probably damaging Het
Col6a3 T C 1: 90,779,346 D2622G unknown Het
Crybg2 T C 4: 134,074,291 S612P probably benign Het
Cyp4b1 T C 4: 115,636,384 K167R probably damaging Het
Gipc2 T C 3: 152,128,069 T192A possibly damaging Het
Gm3285 T C 10: 77,862,077 V20A Het
Gm35339 T C 15: 76,360,864 S1176P Het
Gorasp2 T C 2: 70,711,125 probably null Het
Gpr179 A G 11: 97,338,489 S947P probably benign Het
Klra5 C A 6: 129,906,723 W147L possibly damaging Het
Lrch4 G A 5: 137,637,789 R368Q probably damaging Het
Mamdc4 A G 2: 25,565,588 V876A probably benign Het
Marf1 A C 16: 14,120,332 D1433E probably benign Het
Mcm4 A T 16: 15,635,311 C171* probably null Het
Micall1 C T 15: 79,126,959 P510S Het
Morc3 A G 16: 93,853,087 probably null Het
Mrpl28 G T 17: 26,126,292 V229F possibly damaging Het
Mrps33 A T 6: 39,805,430 Y52* probably null Het
Mybphl T C 3: 108,374,886 I144T probably benign Het
Myom1 A G 17: 71,126,334 M1657V probably benign Het
Ogfr AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG 2: 180,595,057 probably benign Het
Olfr492 A G 7: 108,322,830 I282T probably benign Het
Peg10 T TCCG 6: 4,756,451 probably benign Het
Plxna1 T C 6: 89,341,930 K637R probably benign Het
Prob1 G T 18: 35,653,165 L679I possibly damaging Het
Sgms2 C A 3: 131,325,069 C255F probably damaging Het
Slc17a9 T C 2: 180,741,297 C399R probably benign Het
Smc4 T A 3: 69,008,122 probably null Het
St14 A G 9: 31,096,549 L578P probably damaging Het
Tcaf3 A T 6: 42,596,972 L102* probably null Het
Tex15 A G 8: 33,582,245 T2607A possibly damaging Het
Trav15-2-dv6-2 T A 14: 53,649,475 probably benign Het
Trip4 T C 9: 65,852,952 probably null Het
Ttf1 A G 2: 29,065,697 I358V probably benign Het
Uroc1 C A 6: 90,345,371 S292R possibly damaging Het
Vmn1r5 T C 6: 56,985,430 I30T possibly damaging Het
Vps33a A T 5: 123,564,984 I192N probably damaging Het
Vps50 A G 6: 3,516,724 I69V probably benign Het
Xirp1 G A 9: 120,018,137 T560M probably damaging Het
Zfp512 A T 5: 31,471,015 T266S possibly damaging Het
Other mutations in Gbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Gbp3 APN 3 142565244 unclassified probably benign
IGL01067:Gbp3 APN 3 142566597 splice site probably null
IGL02965:Gbp3 APN 3 142567582 missense probably benign 0.31
R0136:Gbp3 UTSW 3 142564101 splice site probably null
R0609:Gbp3 UTSW 3 142567772 missense probably damaging 0.99
R0671:Gbp3 UTSW 3 142565390 missense probably benign 0.17
R0673:Gbp3 UTSW 3 142565254 missense probably benign 0.45
R0786:Gbp3 UTSW 3 142570971 missense possibly damaging 0.67
R2511:Gbp3 UTSW 3 142570582 missense probably benign 0.31
R3909:Gbp3 UTSW 3 142566338 unclassified probably benign
R3912:Gbp3 UTSW 3 142566338 unclassified probably benign
R4816:Gbp3 UTSW 3 142567574 missense probably damaging 0.99
R5822:Gbp3 UTSW 3 142566478 missense probably benign 0.01
R6046:Gbp3 UTSW 3 142567799 missense possibly damaging 0.81
R6328:Gbp3 UTSW 3 142569058 missense probably benign 0.01
R7186:Gbp3 UTSW 3 142564162 missense probably damaging 0.97
R7536:Gbp3 UTSW 3 142566395 missense probably damaging 1.00
R7543:Gbp3 UTSW 3 142566580 missense probably damaging 0.97
R7602:Gbp3 UTSW 3 142569061 missense probably benign 0.00
R7677:Gbp3 UTSW 3 142560503 start gained probably benign
R7764:Gbp3 UTSW 3 142565263 missense probably benign 0.37
R7923:Gbp3 UTSW 3 142567612 missense probably damaging 1.00
R9099:Gbp3 UTSW 3 142565287 missense probably benign 0.02
R9102:Gbp3 UTSW 3 142567825 missense probably benign 0.01
R9459:Gbp3 UTSW 3 142564946 critical splice acceptor site probably null
R9760:Gbp3 UTSW 3 142570522 missense probably benign 0.01
X0025:Gbp3 UTSW 3 142566432 missense probably benign 0.42
X0062:Gbp3 UTSW 3 142561774 missense probably damaging 1.00
Z1176:Gbp3 UTSW 3 142561863 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAACATGACCAGAGAATGTATCAG -3'
(R):5'- CACGTCACCTGGCAGATTTC -3'

Sequencing Primer
(F):5'- TTGTCTTTGACAGGCCCA -3'
(R):5'- GATGTGCTAGACTTCTCATGTACAG -3'
Posted On 2022-06-15