Incidental Mutation 'R3909:Gbp3'
ID 359662
Institutional Source Beutler Lab
Gene Symbol Gbp3
Ensembl Gene ENSMUSG00000028268
Gene Name guanylate binding protein 3
Synonyms
MMRRC Submission 040814-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3909 (G1)
Quality Score 24
Status Validated
Chromosome 3
Chromosomal Location 142265787-142278970 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 142272099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029935] [ENSMUST00000106221] [ENSMUST00000106222] [ENSMUST00000128609] [ENSMUST00000142060] [ENSMUST00000199325]
AlphaFold Q61107
Predicted Effect probably benign
Transcript: ENSMUST00000029935
SMART Domains Protein: ENSMUSP00000029935
Gene: ENSMUSG00000028268

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 probably benign
Transcript: ENSMUST00000106221
SMART Domains Protein: ENSMUSP00000101828
Gene: ENSMUSG00000028268

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 probably benign
Transcript: ENSMUST00000106222
SMART Domains Protein: ENSMUSP00000101829
Gene: ENSMUSG00000028268

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 noncoding transcript
Transcript: ENSMUST00000142731
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: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (35/35)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,625,125 (GRCm39) F501Y probably damaging Het
Alk T C 17: 72,204,906 (GRCm39) T1089A probably benign Het
Ankrd12 G T 17: 66,291,000 (GRCm39) P1478T probably benign Het
Arhgap39 A G 15: 76,636,088 (GRCm39) V49A probably benign Het
Arid4b T C 13: 14,307,069 (GRCm39) L108P probably damaging Het
Atrn T A 2: 130,836,127 (GRCm39) C1136S probably damaging Het
Cacna1s T A 1: 136,012,007 (GRCm39) M483K probably damaging Het
Cacng1 C A 11: 107,607,118 (GRCm39) V34L probably benign Het
Casp8 T C 1: 58,883,970 (GRCm39) S446P probably damaging Het
Cngb3 G A 4: 19,461,679 (GRCm39) C520Y probably damaging Het
Crim1 C T 17: 78,588,668 (GRCm39) probably benign Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Fbxl17 G A 17: 63,806,802 (GRCm39) P71S possibly damaging Het
Fn1 C T 1: 71,647,072 (GRCm39) G1482R probably damaging Het
Golga4 A G 9: 118,387,804 (GRCm39) D1642G possibly damaging Het
Hspa1a C T 17: 35,190,703 (GRCm39) V67M probably damaging Het
Hyls1 T C 9: 35,472,705 (GRCm39) D237G probably damaging Het
Kmt2e A G 5: 23,706,624 (GRCm39) N1396D probably benign Het
Lasp1 G A 11: 97,690,653 (GRCm39) V12M probably damaging Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Muc5b C T 7: 141,403,235 (GRCm39) T732M unknown Het
Mxd1 G T 6: 86,627,942 (GRCm39) Q199K probably benign Het
Or14a258 T A 7: 86,035,182 (GRCm39) T229S probably benign Het
Or4a78 T C 2: 89,497,357 (GRCm39) E291G probably damaging Het
Or5w18 T A 2: 87,633,031 (GRCm39) F95L probably benign Het
Or5w20 T A 2: 87,727,293 (GRCm39) probably null Het
Prps1l1 A T 12: 35,035,797 (GRCm39) H304L possibly damaging Het
Psmd2 A G 16: 20,474,392 (GRCm39) D316G probably benign Het
Rlf G A 4: 121,006,229 (GRCm39) T917I probably benign Het
Ryr3 T C 2: 112,466,953 (GRCm39) D4704G probably damaging Het
Scn1a T A 2: 66,104,332 (GRCm39) I1643F probably damaging Het
Vmn2r38 T C 7: 9,078,553 (GRCm39) K610E probably damaging Het
Zfc3h1 T C 10: 115,255,806 (GRCm39) F1486L probably benign 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
R0786:Gbp3 UTSW 3 142,276,732 (GRCm39) missense possibly damaging 0.67
R2511:Gbp3 UTSW 3 142,276,343 (GRCm39) missense probably benign 0.31
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'- CGACTAAGCACTGAGGTCTC -3'
(R):5'- CTCAGAGTCTTGGTCTTGCC -3'

Sequencing Primer
(F):5'- TAAGCACTGAGGTCTCCCAATG -3'
(R):5'- TTTCTGATTCAACCTGGAAATTCCG -3'
Posted On 2015-11-12