Incidental Mutation 'IGL00465:Zbtb3'
ID332118
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb3
Ensembl Gene ENSMUSG00000071661
Gene Namezinc finger and BTB domain containing 3
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.375) question?
Stock #IGL00465
Quality Score
Status
Chromosome19
Chromosomal Location8802530-8804854 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 8803665 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 214 (D214G)
Ref Sequence ENSEMBL: ENSMUSP00000127746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172175]
Predicted Effect possibly damaging
Transcript: ENSMUST00000172175
AA Change: D214G

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000127746
Gene: ENSMUSG00000071661
AA Change: D214G

DomainStartEndE-ValueType
low complexity region 7 20 N/A INTRINSIC
BTB 24 123 4.37e-21 SMART
low complexity region 207 225 N/A INTRINSIC
low complexity region 273 292 N/A INTRINSIC
low complexity region 386 406 N/A INTRINSIC
ZnF_C2H2 418 440 7.55e-1 SMART
ZnF_C2H2 446 469 3.11e-2 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik A G 7: 140,294,842 Y411C probably damaging Het
A1bg A T 15: 60,921,253 S2T probably damaging Het
Adamts13 T A 2: 26,973,555 W7R probably benign Het
Anks6 T A 4: 47,046,054 D279V probably damaging Het
C4bp A T 1: 130,639,134 L335Q probably damaging Het
Cd109 A T 9: 78,660,934 K299* probably null Het
Cd200r2 A T 16: 44,909,288 H102L probably damaging Het
Col12a1 A G 9: 79,697,581 Y662H probably damaging Het
Cyp2c37 T C 19: 40,001,997 F380L probably benign Het
Deup1 A G 9: 15,561,370 S549P probably damaging Het
Dysf G T 6: 84,199,848 probably null Het
Etaa1 A T 11: 17,947,825 C166* probably null Het
Fam227b T C 2: 126,144,325 probably null Het
Gucy1b2 T G 14: 62,403,200 Q752P probably benign Het
Hal T C 10: 93,490,069 probably null Het
Hao1 C A 2: 134,554,270 K21N probably damaging Het
Itga4 T C 2: 79,292,050 F536L probably benign Het
Lmod3 A T 6: 97,247,861 I333N probably damaging Het
Mgme1 T A 2: 144,279,516 D297E probably damaging Het
Myh2 G T 11: 67,178,833 probably benign Het
Myo7a A G 7: 98,102,626 M70T probably damaging Het
Nav3 T C 10: 109,852,746 T557A probably damaging Het
Nif3l1 C A 1: 58,455,686 H271Q possibly damaging Het
Nostrin A G 2: 69,185,554 probably benign Het
Nxn C A 11: 76,274,655 probably benign Het
Pcdhb22 A T 18: 37,520,132 D551V probably damaging Het
Pde4d A G 13: 109,936,687 D339G possibly damaging Het
Pkp4 T A 2: 59,338,755 S408T probably damaging Het
Pxmp2 T C 5: 110,283,716 T54A probably benign Het
Rif1 T A 2: 52,121,007 V2362E probably damaging Het
Rps6kl1 A G 12: 85,139,429 S276P probably benign Het
Scaf4 C A 16: 90,247,281 M601I unknown Het
Setd7 T A 3: 51,550,308 T33S probably benign Het
Shroom1 T A 11: 53,464,094 D280E probably benign Het
Slc35f2 G T 9: 53,798,014 probably null Het
Slitrk3 T A 3: 73,051,103 N112I probably damaging Het
Spag1 A G 15: 36,183,821 probably benign Het
Stx6 C T 1: 155,201,933 probably benign Het
Sun1 A T 5: 139,234,685 probably null Het
Tbl1xr1 G A 3: 22,192,268 probably null Het
Tmc2 T C 2: 130,261,304 S787P possibly damaging Het
Traf3ip3 C T 1: 193,194,820 probably benign Het
Trip12 T G 1: 84,763,861 H559P probably damaging Het
Trpm1 G T 7: 64,247,467 M272I possibly damaging Het
Ttc21b T C 2: 66,242,775 E189G probably benign Het
Tubd1 T C 11: 86,555,068 probably benign Het
Vps13a T A 19: 16,752,175 T167S probably damaging Het
Zfp658 A G 7: 43,567,356 D50G probably benign Het
Zfp976 T A 7: 42,613,685 I243L unknown Het
Other mutations in Zbtb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Zbtb3 APN 19 8803455 missense probably damaging 0.97
IGL01447:Zbtb3 APN 19 8804316 missense probably damaging 1.00
IGL02016:Zbtb3 APN 19 8803215 missense probably damaging 1.00
IGL02264:Zbtb3 APN 19 8803365 missense probably damaging 1.00
IGL02720:Zbtb3 APN 19 8804214 unclassified probably null
R0456:Zbtb3 UTSW 19 8803200 missense probably damaging 1.00
R0840:Zbtb3 UTSW 19 8803457 missense possibly damaging 0.50
R1496:Zbtb3 UTSW 19 8803350 missense probably damaging 1.00
R1509:Zbtb3 UTSW 19 8803407 missense probably damaging 1.00
R4110:Zbtb3 UTSW 19 8803020 start gained probably benign
R4902:Zbtb3 UTSW 19 8803967 missense probably benign 0.40
R6148:Zbtb3 UTSW 19 8804196 missense probably benign 0.15
R7121:Zbtb3 UTSW 19 8803407 missense probably damaging 1.00
Posted On2015-08-05