Incidental Mutation 'R7186:Gbp3'
ID 559281
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 # R7186 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 142560026-142573209 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 142564162 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 77 (V77M)
Ref Sequence ENSEMBL: ENSMUSP00000029935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029935] [ENSMUST00000106221] [ENSMUST00000106222] [ENSMUST00000128609] [ENSMUST00000142060] [ENSMUST00000199325]
AlphaFold Q61107
Predicted Effect probably damaging
Transcript: ENSMUST00000029935
AA Change: V77M

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029935
Gene: ENSMUSG00000028268
AA Change: V77M

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 damaging
Transcript: ENSMUST00000106221
AA Change: V77M

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101828
Gene: ENSMUSG00000028268
AA Change: V77M

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 damaging
Transcript: ENSMUST00000106222
AA Change: V77M

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101829
Gene: ENSMUSG00000028268
AA Change: V77M

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 damaging
Transcript: ENSMUST00000128609
AA Change: V77M

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117991
Gene: ENSMUSG00000028268
AA Change: V77M

DomainStartEndE-ValueType
Pfam:GBP 12 83 1.1e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142060
AA Change: V77M

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120131
Gene: ENSMUSG00000028268
AA Change: V77M

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (67/67)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 T A 11: 49,019,273 I778F possibly damaging Het
Adam39 A T 8: 40,826,312 N580I probably damaging Het
Adamts20 A G 15: 94,322,808 S1415P possibly damaging Het
Adcy2 A G 13: 68,668,639 Y743H probably damaging Het
Aldh1a3 A G 7: 66,406,083 V320A probably damaging Het
Arid1a TGCCGCCGCCGCCGCCGCCGCCG TGCCGCCGCCGCCGCCGCCG 4: 133,753,233 Het
Art5 G T 7: 102,097,329 R268S probably benign Het
Bfar T C 16: 13,692,507 V238A probably benign Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,098,691 probably benign Het
Cdc23 G A 18: 34,637,122 T408I probably damaging Het
Cdh24 G C 14: 54,633,492 P522A probably benign Het
Clk4 T C 11: 51,268,780 V61A probably benign Het
Clrn2 T C 5: 45,453,773 probably benign Het
Cyp2j8 T C 4: 96,475,550 D292G probably benign Het
Deaf1 T C 7: 141,327,470 E34G probably benign Het
Elovl7 A G 13: 108,271,848 E127G probably damaging Het
Fam46b T A 4: 133,486,207 F130I probably damaging Het
Flg A T 3: 93,279,945 R235* probably null Het
Gda A T 19: 21,395,205 F450I probably benign Het
Gipc1 A G 8: 83,664,133 E289G possibly damaging Het
Gm21731 C T 13: 120,241,051 L128F probably damaging Het
Gm4924 T C 10: 82,378,944 Y859H unknown Het
Gpatch1 A T 7: 35,295,313 D509E possibly damaging Het
Gpbp1 A G 13: 111,440,699 V219A possibly damaging Het
Gpr107 A T 2: 31,152,359 M1L possibly damaging Het
Heg1 T C 16: 33,731,664 F1003L probably damaging Het
Hivep1 A G 13: 42,156,338 T685A probably benign Het
Hpse T A 5: 100,695,529 D259V probably damaging Het
Ido2 A T 8: 24,550,810 probably null Het
Ighv14-1 T C 12: 113,932,029 D92G probably damaging Het
Krt83 A T 15: 101,487,202 probably null Het
Lsp1 T C 7: 142,490,352 V278A probably damaging Het
Lurap1l C A 4: 80,911,510 S52R possibly damaging Het
Luzp2 A G 7: 54,835,829 probably benign Het
Micall1 A G 15: 79,125,375 E399G unknown Het
Ncapd2 A G 6: 125,186,156 S130P possibly damaging Het
Nrg2 A G 18: 36,045,920 V321A probably benign Het
Nuf2 T C 1: 169,525,385 H17R probably damaging Het
Numb A G 12: 83,796,146 W419R probably damaging Het
Olfr1318 T A 2: 112,156,162 D70E probably damaging Het
Olfr462 G A 11: 87,889,765 L44F possibly damaging Het
Olfr681 A G 7: 105,122,266 R270G probably benign Het
Pde6a T A 18: 61,220,606 M1K probably null Het
Pknox1 C T 17: 31,603,198 A313V probably damaging Het
Ppp2ca T A 11: 52,119,253 N229K possibly damaging Het
Ptgdr A T 14: 44,858,944 C104S probably damaging Het
Ralgapa2 C A 2: 146,388,486 probably null Het
Rfx5 G T 3: 94,958,348 K319N probably benign Het
Rnase10 A T 14: 51,009,785 T207S probably damaging Het
Rreb1 A G 13: 37,941,632 T1305A probably benign Het
Rrp12 C A 19: 41,871,305 probably null Het
Rubcnl A C 14: 75,032,013 D37A possibly damaging Het
Scn9a T C 2: 66,534,223 Y802C probably damaging Het
Sec16a A T 2: 26,440,703 Y433* probably null Het
Sgk3 T A 1: 9,886,002 V331D probably benign Het
Sirt7 C T 11: 120,620,485 R280H probably benign Het
Snx13 G C 12: 35,092,913 R252S probably damaging Het
Stk32b G T 5: 37,466,781 D207E probably damaging Het
Sult2a7 C T 7: 14,470,053 V262I not run Het
Tex45 T C 8: 3,479,049 F208S probably damaging Het
Tmem33 G C 5: 67,263,787 V35L possibly damaging Het
Uba1y A G Y: 825,537 I300V probably benign Het
Usp32 A T 11: 85,051,234 V344E probably benign Het
Usp50 C T 2: 126,783,298 probably benign Het
Vmn1r238 A C 18: 3,122,661 F251C probably damaging Het
Vmn2r74 A T 7: 85,951,942 Y829* probably null Het
Wars A G 12: 108,881,056 F141L probably damaging Het
Zfp879 A G 11: 50,833,794 V145A probably benign Het
Zfp934 A T 13: 62,492,390 V56D probably benign 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
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
R9440:Gbp3 UTSW 3 142566574 missense possibly damaging 0.63
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'- GAGGCAAGAAATCTTTACCAAGTG -3'
(R):5'- TTGTGCTAGGAAGACAGTCAAG -3'

Sequencing Primer
(F):5'- ACAAACTAAACTGATTGTCCTTGCTG -3'
(R):5'- GTATTAGCGAAGACAGTACCT -3'
Posted On 2019-06-26