Incidental Mutation 'IGL01758:Zbtb8a'
ID153482
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb8a
Ensembl Gene ENSMUSG00000028807
Gene Namezinc finger and BTB domain containing 8a
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.274) question?
Stock #IGL01758
Quality Score
Status
Chromosome4
Chromosomal Location129353628-129378116 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 129357847 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 277 (C277Y)
Ref Sequence ENSEMBL: ENSMUSP00000030610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030610] [ENSMUST00000146767]
Predicted Effect probably damaging
Transcript: ENSMUST00000030610
AA Change: C277Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030610
Gene: ENSMUSG00000028807
AA Change: C277Y

DomainStartEndE-ValueType
BTB 24 122 2.49e-25 SMART
ZnF_C2H2 275 297 2.2e-2 SMART
ZnF_C2H2 303 326 4.17e-3 SMART
low complexity region 422 428 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146767
SMART Domains Protein: ENSMUSP00000114628
Gene: ENSMUSG00000057572

DomainStartEndE-ValueType
Pfam:Archease 31 145 3.5e-40 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 120,010,819 D860G possibly damaging Het
Acot7 T C 4: 152,217,793 C121R probably damaging Het
Adam19 A T 11: 46,112,924 H193L probably benign Het
AI661453 T A 17: 47,466,623 probably benign Het
Bod1l T C 5: 41,826,610 probably benign Het
Brd4 T C 17: 32,212,829 probably benign Het
Capn12 G A 7: 28,886,623 probably null Het
Cdh18 A G 15: 23,474,183 Q713R probably benign Het
Cfap52 A T 11: 67,953,580 L103Q possibly damaging Het
Dpy19l4 T A 4: 11,265,846 T475S probably damaging Het
Fat2 A T 11: 55,296,209 D1270E probably damaging Het
Hfm1 T C 5: 106,904,793 K275E probably damaging Het
Ift172 T C 5: 31,280,714 D426G probably benign Het
Mrc1 T C 2: 14,238,248 S62P probably damaging Het
Olfr275 G T 4: 52,825,468 E24* probably null Het
Olfr914 T A 9: 38,607,293 I276K probably damaging Het
Ptgs2 A T 1: 150,101,989 probably null Het
Rxfp1 T A 3: 79,652,216 I433F possibly damaging Het
Sbf1 C T 15: 89,303,215 probably benign Het
Serpinb13 T G 1: 107,000,754 F368C probably damaging Het
Slc9c1 T A 16: 45,541,461 S80R probably damaging Het
Spats2l G T 1: 57,879,556 V30L probably damaging Het
Stat1 A G 1: 52,136,921 E195G probably damaging Het
Tbx5 T A 5: 119,844,958 probably benign Het
Tmem165 A G 5: 76,204,163 T164A probably damaging Het
Trim66 A T 7: 109,486,045 probably null Het
Trip10 T A 17: 57,261,409 V405E possibly damaging Het
Vmn2r92 T A 17: 18,152,013 C28* probably null Het
Wdr60 G A 12: 116,218,798 P728L possibly damaging Het
Zfp638 T C 6: 83,979,526 F1705S probably damaging Het
Other mutations in Zbtb8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4514001:Zbtb8a UTSW 4 129357730 missense probably benign 0.01
R1033:Zbtb8a UTSW 4 129354221 missense possibly damaging 0.82
R1183:Zbtb8a UTSW 4 129357727 missense possibly damaging 0.94
R1755:Zbtb8a UTSW 4 129354317 missense possibly damaging 0.71
R2426:Zbtb8a UTSW 4 129360219 missense probably benign 0.00
R2520:Zbtb8a UTSW 4 129359896 critical splice donor site probably null
R5044:Zbtb8a UTSW 4 129360500 missense probably damaging 1.00
R6357:Zbtb8a UTSW 4 129354299 missense probably benign
R7129:Zbtb8a UTSW 4 129360395 missense probably damaging 1.00
R7352:Zbtb8a UTSW 4 129360081 missense probably benign 0.00
R7754:Zbtb8a UTSW 4 129357703 critical splice donor site probably null
T0722:Zbtb8a UTSW 4 129360019 small insertion probably benign
T0722:Zbtb8a UTSW 4 129360212 missense probably benign
T0975:Zbtb8a UTSW 4 129360019 small insertion probably benign
T0975:Zbtb8a UTSW 4 129360212 missense probably benign
Posted On2014-02-04