Incidental Mutation 'R0478:Gbp4'
ID 43197
Institutional Source Beutler Lab
Gene Symbol Gbp4
Ensembl Gene ENSMUSG00000079363
Gene Name guanylate binding protein 4
Synonyms Mpa2, Mpa-2, Mag-2
MMRRC Submission 038678-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0478 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 105263633-105287452 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105267299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 540 (Q540L)
Ref Sequence ENSEMBL: ENSMUSP00000098522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031235] [ENSMUST00000100961] [ENSMUST00000100962] [ENSMUST00000196204] [ENSMUST00000196677] [ENSMUST00000199629]
AlphaFold A4UUI3
Predicted Effect probably benign
Transcript: ENSMUST00000031235
SMART Domains Protein: ENSMUSP00000031235
Gene: ENSMUSG00000034438

DomainStartEndE-ValueType
Pfam:GBP 16 213 5.4e-91 PFAM
Pfam:GBP_C 206 493 1e-115 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100961
SMART Domains Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298

DomainStartEndE-ValueType
Pfam:GBP 16 279 3.8e-124 PFAM
Pfam:GBP_C 281 575 4.5e-115 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100962
AA Change: Q540L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000098522
Gene: ENSMUSG00000079363
AA Change: Q540L

DomainStartEndE-ValueType
Pfam:GBP 16 287 4.2e-91 PFAM
Pfam:GBP_C 289 583 4.4e-117 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196204
SMART Domains Protein: ENSMUSP00000142528
Gene: ENSMUSG00000079363

DomainStartEndE-ValueType
Pfam:GBP 16 76 1e-19 PFAM
low complexity region 82 103 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196677
SMART Domains Protein: ENSMUSP00000142795
Gene: ENSMUSG00000079363

DomainStartEndE-ValueType
Pfam:GBP 1 149 3e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199629
SMART Domains Protein: ENSMUSP00000143689
Gene: ENSMUSG00000079363

DomainStartEndE-ValueType
Pfam:GBP 1 127 1.5e-43 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (49/49)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,262,014 (GRCm39) noncoding transcript Het
4930556J24Rik T G 11: 3,926,259 (GRCm39) probably benign Het
Acnat1 T G 4: 49,450,901 (GRCm39) D70A probably damaging Het
Adnp2 A G 18: 80,172,549 (GRCm39) V620A probably benign Het
Aldoart1 T A 4: 72,770,580 (GRCm39) H21L probably benign Het
Birc2 A G 9: 7,860,348 (GRCm39) V290A probably damaging Het
Bpifb3 C T 2: 153,773,400 (GRCm39) probably benign Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Clmn A G 12: 104,751,750 (GRCm39) M235T probably damaging Het
Dmbt1 A G 7: 130,642,917 (GRCm39) E245G possibly damaging Het
Epgn G T 5: 91,178,987 (GRCm39) V36L probably benign Het
Ets2 C A 16: 95,517,306 (GRCm39) P346Q probably damaging Het
Fam222b T C 11: 78,044,682 (GRCm39) L81P probably damaging Het
Fancf A C 7: 51,511,440 (GRCm39) L188R probably damaging Het
Fibin T C 2: 110,193,079 (GRCm39) D21G possibly damaging Het
Fzd6 A G 15: 38,897,429 (GRCm39) probably null Het
Greb1l T A 18: 10,509,281 (GRCm39) L531Q probably damaging Het
Il5ra A G 6: 106,715,423 (GRCm39) V137A probably benign Het
Kif26a G A 12: 112,142,223 (GRCm39) A826T probably damaging Het
Kiz T C 2: 146,784,078 (GRCm39) V537A possibly damaging Het
Klhl32 C T 4: 24,792,777 (GRCm39) G15D probably damaging Het
Kmt2d G A 15: 98,751,462 (GRCm39) probably benign Het
Lbp T C 2: 158,159,448 (GRCm39) probably benign Het
Mmp25 T C 17: 23,851,756 (GRCm39) T318A probably benign Het
Mrpl50 A G 4: 49,514,513 (GRCm39) C53R probably damaging Het
Msl3l2 G C 10: 55,991,411 (GRCm39) E45D probably damaging Het
Nfxl1 A G 5: 72,681,988 (GRCm39) probably null Het
Noc3l A G 19: 38,798,450 (GRCm39) probably null Het
Or12e7 T A 2: 87,288,370 (GRCm39) V287E probably damaging Het
Or1x6 T C 11: 50,939,539 (GRCm39) S202P probably benign Het
Pgm5 A T 19: 24,812,233 (GRCm39) S100T possibly damaging Het
Pi4ka C T 16: 17,127,175 (GRCm39) G1093S possibly damaging Het
Pitrm1 T A 13: 6,609,431 (GRCm39) S350T probably damaging Het
Ptk2b G T 14: 66,450,821 (GRCm39) N48K probably damaging Het
Septin3 T C 15: 82,175,007 (GRCm39) L172P probably damaging Het
Sirt3 A T 7: 140,458,027 (GRCm39) C41S Het
Sphkap C T 1: 83,256,432 (GRCm39) R152H probably damaging Het
St3gal1 T C 15: 66,985,579 (GRCm39) Y25C probably damaging Het
Tbc1d31 T C 15: 57,795,932 (GRCm39) F175S probably damaging Het
Tfdp2 T A 9: 96,172,636 (GRCm39) D43E probably benign Het
Tgm1 G A 14: 55,937,791 (GRCm39) Q773* probably null Het
Tmc3 A T 7: 83,271,360 (GRCm39) R837S possibly damaging Het
Unc13a A G 8: 72,103,792 (GRCm39) V880A possibly damaging Het
Vmn1r237 T A 17: 21,535,081 (GRCm39) V268E probably damaging Het
Zan C T 5: 137,398,788 (GRCm39) probably benign Het
Zfp760 G T 17: 21,940,995 (GRCm39) E57* probably null Het
Other mutations in Gbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01307:Gbp4 APN 5 105,284,887 (GRCm39) start codon destroyed probably null 0.00
IGL01834:Gbp4 APN 5 105,273,468 (GRCm39) missense probably damaging 1.00
IGL02100:Gbp4 APN 5 105,269,941 (GRCm39) unclassified probably benign
IGL02119:Gbp4 APN 5 105,268,908 (GRCm39) missense probably benign 0.14
IGL02364:Gbp4 APN 5 105,284,740 (GRCm39) missense probably damaging 1.00
IGL03026:Gbp4 APN 5 105,267,866 (GRCm39) missense possibly damaging 0.88
PIT4651001:Gbp4 UTSW 5 105,266,289 (GRCm39) missense probably benign 0.08
R0147:Gbp4 UTSW 5 105,267,362 (GRCm39) missense probably benign 0.17
R0148:Gbp4 UTSW 5 105,267,362 (GRCm39) missense probably benign 0.17
R0413:Gbp4 UTSW 5 105,268,972 (GRCm39) missense possibly damaging 0.85
R0415:Gbp4 UTSW 5 105,268,972 (GRCm39) missense possibly damaging 0.85
R0546:Gbp4 UTSW 5 105,268,836 (GRCm39) missense probably damaging 1.00
R0638:Gbp4 UTSW 5 105,269,706 (GRCm39) missense probably damaging 0.98
R1528:Gbp4 UTSW 5 105,269,658 (GRCm39) splice site probably null
R1541:Gbp4 UTSW 5 105,266,275 (GRCm39) missense probably benign
R2099:Gbp4 UTSW 5 105,268,947 (GRCm39) missense probably damaging 1.00
R2112:Gbp4 UTSW 5 105,283,042 (GRCm39) missense possibly damaging 0.95
R2994:Gbp4 UTSW 5 105,284,886 (GRCm39) start codon destroyed probably null 0.86
R4021:Gbp4 UTSW 5 105,268,789 (GRCm39) missense probably damaging 0.96
R4258:Gbp4 UTSW 5 105,284,841 (GRCm39) missense probably damaging 1.00
R4489:Gbp4 UTSW 5 105,269,773 (GRCm39) missense probably damaging 1.00
R5164:Gbp4 UTSW 5 105,284,743 (GRCm39) nonsense probably null
R5195:Gbp4 UTSW 5 105,267,398 (GRCm39) missense probably benign 0.00
R5406:Gbp4 UTSW 5 105,267,387 (GRCm39) missense possibly damaging 0.76
R5550:Gbp4 UTSW 5 105,269,911 (GRCm39) missense probably damaging 1.00
R5701:Gbp4 UTSW 5 105,266,265 (GRCm39) missense possibly damaging 0.60
R5814:Gbp4 UTSW 5 105,267,785 (GRCm39) missense probably benign 0.27
R6128:Gbp4 UTSW 5 105,283,030 (GRCm39) missense possibly damaging 0.93
R6307:Gbp4 UTSW 5 105,270,975 (GRCm39) nonsense probably null
R6513:Gbp4 UTSW 5 105,270,986 (GRCm39) missense possibly damaging 0.69
R6870:Gbp4 UTSW 5 105,273,444 (GRCm39) missense probably damaging 1.00
R6938:Gbp4 UTSW 5 105,282,943 (GRCm39) missense probably damaging 0.99
R7063:Gbp4 UTSW 5 105,266,314 (GRCm39) missense probably damaging 0.96
R7124:Gbp4 UTSW 5 105,267,825 (GRCm39) missense possibly damaging 0.45
R7457:Gbp4 UTSW 5 105,267,419 (GRCm39) missense probably damaging 0.98
R7615:Gbp4 UTSW 5 105,270,848 (GRCm39) missense possibly damaging 0.95
R7877:Gbp4 UTSW 5 105,266,161 (GRCm39) missense probably benign 0.34
R7905:Gbp4 UTSW 5 105,268,953 (GRCm39) missense probably damaging 1.00
R8274:Gbp4 UTSW 5 105,267,338 (GRCm39) missense probably benign 0.01
R8377:Gbp4 UTSW 5 105,266,328 (GRCm39) missense probably benign 0.02
R8414:Gbp4 UTSW 5 105,284,703 (GRCm39) missense probably benign 0.05
R8423:Gbp4 UTSW 5 105,267,800 (GRCm39) missense probably damaging 1.00
R8979:Gbp4 UTSW 5 105,267,248 (GRCm39) missense probably benign 0.00
R9485:Gbp4 UTSW 5 105,269,796 (GRCm39) missense probably damaging 1.00
R9579:Gbp4 UTSW 5 105,270,947 (GRCm39) missense probably damaging 1.00
R9598:Gbp4 UTSW 5 105,284,740 (GRCm39) missense probably damaging 1.00
S24628:Gbp4 UTSW 5 105,268,972 (GRCm39) missense possibly damaging 0.85
X0067:Gbp4 UTSW 5 105,273,491 (GRCm39) missense probably damaging 0.98
Z1088:Gbp4 UTSW 5 105,268,863 (GRCm39) missense probably damaging 1.00
Z1177:Gbp4 UTSW 5 105,273,001 (GRCm39) missense probably null 0.89
Z1177:Gbp4 UTSW 5 105,267,315 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CATTCACCCCTGAAGGAGCAATGG -3'
(R):5'- ATCTCTTGGGGCAGAGAAGCACAC -3'

Sequencing Primer
(F):5'- ATTTAATGCCCCCAGAGTCG -3'
(R):5'- GCACACCAAGAAGGAGGC -3'
Posted On 2013-05-23