Incidental Mutation 'IGL02340:Zbtb2'
ID289049
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb2
Ensembl Gene ENSMUSG00000075327
Gene Namezinc finger and BTB domain containing 2
SynonymsLOC381990
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.889) question?
Stock #IGL02340
Quality Score
Status
Chromosome10
Chromosomal Location4367075-4388108 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 4368712 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 438 (D438G)
Ref Sequence ENSEMBL: ENSMUSP00000097656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100077] [ENSMUST00000100078]
Predicted Effect probably damaging
Transcript: ENSMUST00000100077
AA Change: D438G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097655
Gene: ENSMUSG00000075327
AA Change: D438G

DomainStartEndE-ValueType
BTB 24 117 1.45e-12 SMART
low complexity region 201 220 N/A INTRINSIC
ZnF_C2H2 254 276 4.87e-4 SMART
ZnF_C2H2 363 385 4.24e-4 SMART
ZnF_C2H2 390 410 1.06e2 SMART
ZnF_C2H2 448 468 2.41e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100078
AA Change: D438G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097656
Gene: ENSMUSG00000075327
AA Change: D438G

DomainStartEndE-ValueType
BTB 24 117 1.45e-12 SMART
low complexity region 201 220 N/A INTRINSIC
ZnF_C2H2 254 276 4.87e-4 SMART
ZnF_C2H2 363 385 4.24e-4 SMART
ZnF_C2H2 390 410 1.06e2 SMART
ZnF_C2H2 448 468 2.41e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215860
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 T A 7: 27,629,399 I182N probably damaging Het
Alpk3 A G 7: 81,078,507 T462A probably benign Het
Amz1 A G 5: 140,752,259 R425G probably damaging Het
Aoc2 A G 11: 101,326,375 E428G probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Chchd6 A T 6: 89,419,780 H216Q probably damaging Het
Chl1 A G 6: 103,698,125 Y591C probably damaging Het
Cln8 T C 8: 14,895,178 L164S probably damaging Het
Dscaml1 T C 9: 45,670,176 I431T possibly damaging Het
Fam234b T C 6: 135,231,661 L524P probably damaging Het
Fmo1 T C 1: 162,832,990 N410S probably benign Het
Ftsj3 G A 11: 106,253,146 R251* probably null Het
Greb1l A T 18: 10,515,200 D555V probably damaging Het
Hcar1 G T 5: 123,879,072 H185Q probably damaging Het
Kcnj12 G A 11: 61,069,493 V206I probably benign Het
Lamc3 G A 2: 31,918,457 G742S probably damaging Het
Lipg T C 18: 74,960,875 probably null Het
Ltbp2 A G 12: 84,792,955 probably null Het
Mcm3ap T G 10: 76,496,552 Y1234* probably null Het
Myh6 T A 14: 54,957,155 D719V possibly damaging Het
Myo9b A G 8: 71,291,045 N250S probably damaging Het
Notch2 G A 3: 98,147,336 W2438* probably null Het
Nphp1 G A 2: 127,780,067 Q47* probably null Het
Nptx2 T C 5: 144,556,246 L381P probably damaging Het
Nrxn3 A G 12: 90,204,628 N911S possibly damaging Het
Olfr1176 T C 2: 88,339,562 probably benign Het
Olfr418 A T 1: 173,270,405 I77F probably benign Het
P4ha1 T A 10: 59,352,201 F260Y probably benign Het
Pitpnm2 T C 5: 124,130,613 D504G probably damaging Het
Prss54 A G 8: 95,565,609 V114A probably benign Het
Ptprc G A 1: 138,071,219 T1031M probably damaging Het
Rtf2 T C 2: 172,468,591 probably benign Het
Ryr3 A G 2: 112,947,004 probably benign Het
Slc14a2 C T 18: 78,163,126 E492K probably damaging Het
Slc9a3r1 A G 11: 115,180,032 E270G probably benign Het
Stab1 G T 14: 31,140,410 N2322K probably damaging Het
Thsd7b A G 1: 130,159,632 N1162S probably benign Het
Tmprss11b T C 5: 86,662,231 I297V probably benign Het
Tnn T C 1: 160,145,205 N276D probably benign Het
Trhde A T 10: 114,592,213 probably benign Het
Vmn1r115 T A 7: 20,844,528 H153L possibly damaging Het
Vmn1r203 T A 13: 22,524,827 C259* probably null Het
Xpot T A 10: 121,615,204 E97V probably damaging Het
Other mutations in Zbtb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Zbtb2 APN 10 4369702 missense probably benign 0.28
PIT4142001:Zbtb2 UTSW 10 4369493 missense probably benign 0.00
PIT4581001:Zbtb2 UTSW 10 4369265 missense possibly damaging 0.77
R1436:Zbtb2 UTSW 10 4368697 missense probably benign 0.01
R2015:Zbtb2 UTSW 10 4369757 missense possibly damaging 0.94
R2570:Zbtb2 UTSW 10 4368673 missense probably damaging 1.00
R5134:Zbtb2 UTSW 10 4369267 missense possibly damaging 0.48
R5275:Zbtb2 UTSW 10 4368508 missense probably damaging 1.00
R5286:Zbtb2 UTSW 10 4368566 missense possibly damaging 0.66
R5295:Zbtb2 UTSW 10 4368508 missense probably damaging 1.00
R5328:Zbtb2 UTSW 10 4369267 missense possibly damaging 0.48
R5475:Zbtb2 UTSW 10 4369275 missense probably benign 0.18
R5719:Zbtb2 UTSW 10 4369456 missense probably benign 0.22
R5907:Zbtb2 UTSW 10 4368592 missense possibly damaging 0.52
R6033:Zbtb2 UTSW 10 4368599 missense probably damaging 0.97
R6033:Zbtb2 UTSW 10 4368599 missense probably damaging 0.97
R6492:Zbtb2 UTSW 10 4369711 missense probably damaging 1.00
R7016:Zbtb2 UTSW 10 4368646 missense probably damaging 1.00
R7287:Zbtb2 UTSW 10 4368986 missense possibly damaging 0.77
R7348:Zbtb2 UTSW 10 4374574 missense possibly damaging 0.48
R7486:Zbtb2 UTSW 10 4369025 nonsense probably null
Posted On2015-04-16