Incidental Mutation 'R6330:Gbp7'
ID 510847
Institutional Source Beutler Lab
Gene Symbol Gbp7
Ensembl Gene ENSMUSG00000040253
Gene Name guanylate binding protein 7
Synonyms 9830147J24Rik
MMRRC Submission 044484-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R6330 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 142236103-142255910 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 142252259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 614 (Y614F)
Ref Sequence ENSEMBL: ENSMUSP00000132970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045097] [ENSMUST00000171263]
AlphaFold Q91Z40
Predicted Effect probably benign
Transcript: ENSMUST00000045097
AA Change: Y614F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049104
Gene: ENSMUSG00000040253
AA Change: Y614F

DomainStartEndE-ValueType
Pfam:GBP 18 281 6.6e-128 PFAM
Pfam:GBP_C 283 579 2.8e-127 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171263
AA Change: Y614F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132970
Gene: ENSMUSG00000040253
AA Change: Y614F

DomainStartEndE-ValueType
Pfam:GBP 18 281 1e-126 PFAM
Pfam:GBP_C 283 579 2.8e-127 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197826
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (46/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanylate-binding proteins, such as GBP7, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik T A 16: 88,423,939 (GRCm39) H184L probably benign Het
Ccar1 A G 10: 62,600,312 (GRCm39) Y540H probably damaging Het
Celf2 A G 2: 6,889,766 (GRCm39) F2L probably benign Het
Cfap57 T C 4: 118,426,593 (GRCm39) I1119V probably benign Het
Clec4f T C 6: 83,629,850 (GRCm39) Q236R probably damaging Het
Cstdc2 G T 2: 148,692,745 (GRCm39) A19D probably damaging Het
Cyp4a31 C T 4: 115,421,074 (GRCm39) P54L probably damaging Het
Dapk1 T C 13: 60,909,140 (GRCm39) V1251A probably benign Het
Dnah7b G A 1: 46,379,335 (GRCm39) V3690M probably damaging Het
Dock9 A T 14: 121,842,655 (GRCm39) M1K probably null Het
Emb T G 13: 117,385,666 (GRCm39) probably null Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
F7 C T 8: 13,085,140 (GRCm39) H389Y probably damaging Het
Fam111a T A 19: 12,564,266 (GRCm39) I49K probably damaging Het
Fam50b T G 13: 34,930,652 (GRCm39) S43A probably benign Het
Gli3 T A 13: 15,899,317 (GRCm39) D901E probably damaging Het
Hhatl C T 9: 121,617,291 (GRCm39) probably null Het
Idua T A 5: 108,829,574 (GRCm39) L432H probably benign Het
Ighv10-3 T A 12: 114,487,086 (GRCm39) T112S possibly damaging Het
Kcnj6 T A 16: 94,563,460 (GRCm39) D346V possibly damaging Het
Lrba A G 3: 86,255,664 (GRCm39) D1002G probably benign Het
Lrrd1 T A 5: 3,900,629 (GRCm39) S311R probably damaging Het
Mafk A G 5: 139,784,948 (GRCm39) N4S probably benign Het
Mfsd14b T C 13: 65,243,500 (GRCm39) Y48C probably damaging Het
Mindy3 C T 2: 12,361,744 (GRCm39) A333T probably damaging Het
Mlxip G A 5: 123,533,015 (GRCm39) C8Y probably benign Het
Mthfd1l A T 10: 3,930,234 (GRCm39) M110L probably benign Het
Myo5b G A 18: 74,750,064 (GRCm39) A176T probably damaging Het
Or14j7 T C 17: 38,234,685 (GRCm39) V76A possibly damaging Het
Or1af1 A T 2: 37,110,136 (GRCm39) I212F probably benign Het
Orc2 C A 1: 58,539,493 (GRCm39) V49L probably benign Het
Pfkp C T 13: 6,635,286 (GRCm39) probably benign Het
Pkd1l3 T C 8: 110,373,541 (GRCm39) F1359S probably benign Het
Ralgps1 A T 2: 33,064,455 (GRCm39) I222N probably damaging Het
Rrad T G 8: 105,356,492 (GRCm39) E136A probably benign Het
Serpine3 T C 14: 62,902,430 (GRCm39) S14P probably benign Het
Slc2a12 A G 10: 22,540,894 (GRCm39) T250A probably benign Het
Slc4a5 T G 6: 83,203,356 (GRCm39) F85L probably benign Het
Stx18 T A 5: 38,284,261 (GRCm39) probably null Het
Tbcd T C 11: 121,387,912 (GRCm39) S348P probably benign Het
Usp9y T C Y: 1,340,123 (GRCm39) T1419A probably benign Homo
Vmn2r69 T C 7: 85,060,835 (GRCm39) S250G probably benign Het
Vmn2r86 A G 10: 130,282,396 (GRCm39) V740A probably benign Het
Vwa5b2 T A 16: 20,420,727 (GRCm39) I846N probably damaging Het
Zfp74 A T 7: 29,637,412 (GRCm39) Y33N probably damaging Het
Zfp825 T C 13: 74,628,665 (GRCm39) T284A possibly damaging Het
Other mutations in Gbp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00731:Gbp7 APN 3 142,252,189 (GRCm39) missense probably benign 0.01
IGL01020:Gbp7 APN 3 142,248,618 (GRCm39) missense probably benign 0.03
IGL01959:Gbp7 APN 3 142,247,108 (GRCm39) splice site probably benign
IGL02002:Gbp7 APN 3 142,244,661 (GRCm39) missense probably damaging 1.00
IGL02008:Gbp7 APN 3 142,252,211 (GRCm39) missense probably benign 0.11
PIT4366001:Gbp7 UTSW 3 142,248,712 (GRCm39) missense probably benign
R0103:Gbp7 UTSW 3 142,252,299 (GRCm39) missense probably benign
R0103:Gbp7 UTSW 3 142,252,299 (GRCm39) missense probably benign
R0398:Gbp7 UTSW 3 142,251,274 (GRCm39) missense possibly damaging 0.93
R0486:Gbp7 UTSW 3 142,252,078 (GRCm39) splice site probably benign
R0645:Gbp7 UTSW 3 142,243,926 (GRCm39) splice site probably null
R0961:Gbp7 UTSW 3 142,247,318 (GRCm39) nonsense probably null
R1834:Gbp7 UTSW 3 142,240,441 (GRCm39) missense probably damaging 1.00
R2089:Gbp7 UTSW 3 142,251,316 (GRCm39) splice site probably benign
R2089:Gbp7 UTSW 3 142,240,383 (GRCm39) missense probably damaging 0.97
R2091:Gbp7 UTSW 3 142,251,316 (GRCm39) splice site probably benign
R2091:Gbp7 UTSW 3 142,240,383 (GRCm39) missense probably damaging 0.97
R2091:Gbp7 UTSW 3 142,240,383 (GRCm39) missense probably damaging 0.97
R2181:Gbp7 UTSW 3 142,249,791 (GRCm39) missense possibly damaging 0.87
R2921:Gbp7 UTSW 3 142,240,333 (GRCm39) missense probably benign 0.00
R2922:Gbp7 UTSW 3 142,240,333 (GRCm39) missense probably benign 0.00
R3819:Gbp7 UTSW 3 142,249,826 (GRCm39) missense possibly damaging 0.81
R4747:Gbp7 UTSW 3 142,248,778 (GRCm39) missense probably damaging 1.00
R4748:Gbp7 UTSW 3 142,243,848 (GRCm39) missense probably benign 0.00
R5899:Gbp7 UTSW 3 142,252,303 (GRCm39) missense probably benign
R6082:Gbp7 UTSW 3 142,251,697 (GRCm39) missense probably benign 0.01
R6211:Gbp7 UTSW 3 142,251,754 (GRCm39) missense probably benign 0.12
R6419:Gbp7 UTSW 3 142,252,214 (GRCm39) missense probably benign 0.00
R7120:Gbp7 UTSW 3 142,249,734 (GRCm39) missense probably damaging 1.00
R7338:Gbp7 UTSW 3 142,243,786 (GRCm39) missense probably damaging 1.00
R7844:Gbp7 UTSW 3 142,242,147 (GRCm39) missense probably benign 0.10
R7910:Gbp7 UTSW 3 142,240,402 (GRCm39) missense probably damaging 1.00
R8357:Gbp7 UTSW 3 142,252,133 (GRCm39) missense probably benign 0.06
R8457:Gbp7 UTSW 3 142,252,133 (GRCm39) missense probably benign 0.06
R9016:Gbp7 UTSW 3 142,249,870 (GRCm39) missense probably benign 0.35
R9030:Gbp7 UTSW 3 142,243,798 (GRCm39) missense probably damaging 1.00
R9070:Gbp7 UTSW 3 142,249,762 (GRCm39) missense probably benign 0.10
R9357:Gbp7 UTSW 3 142,248,889 (GRCm39) missense probably benign 0.01
R9425:Gbp7 UTSW 3 142,248,718 (GRCm39) missense probably damaging 1.00
R9634:Gbp7 UTSW 3 142,242,115 (GRCm39) missense probably benign 0.43
R9684:Gbp7 UTSW 3 142,240,327 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- ACCGTCAATAGGCATGGTTTTC -3'
(R):5'- GGGGTCTTGCCATTAATTTATAGAG -3'

Sequencing Primer
(F):5'- ACAGATTCAAAAAGACATGCTTAATG -3'
(R):5'- TTGCCATTAATTTATAGAGAGTGACC -3'
Posted On 2018-04-02