Incidental Mutation 'IGL01758:Zbtb8a'
ID 153482
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb8a
Ensembl Gene ENSMUSG00000028807
Gene Name zinc finger and BTB domain containing 8a
Synonyms 2410081M15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # IGL01758
Quality Score
Status
Chromosome 4
Chromosomal Location 129247425-129271821 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 129251640 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9CWH1
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: 119,901,645 (GRCm39) D860G possibly damaging Het
Acot7 T C 4: 152,302,250 (GRCm39) C121R probably damaging Het
Adam19 A T 11: 46,003,751 (GRCm39) H193L probably benign Het
AI661453 T A 17: 47,777,548 (GRCm39) probably benign Het
Bod1l T C 5: 41,983,953 (GRCm39) probably benign Het
Brd4 T C 17: 32,431,803 (GRCm39) probably benign Het
Capn12 G A 7: 28,586,048 (GRCm39) probably null Het
Cdh18 A G 15: 23,474,269 (GRCm39) Q713R probably benign Het
Cfap52 A T 11: 67,844,406 (GRCm39) L103Q possibly damaging Het
Dpy19l4 T A 4: 11,265,846 (GRCm39) T475S probably damaging Het
Dync2i1 G A 12: 116,182,418 (GRCm39) P728L possibly damaging Het
Fat2 A T 11: 55,187,035 (GRCm39) D1270E probably damaging Het
Hfm1 T C 5: 107,052,659 (GRCm39) K275E probably damaging Het
Ift172 T C 5: 31,438,058 (GRCm39) D426G probably benign Het
Mrc1 T C 2: 14,243,059 (GRCm39) S62P probably damaging Het
Or13f5 G T 4: 52,825,468 (GRCm39) E24* probably null Het
Or8b50 T A 9: 38,518,589 (GRCm39) I276K probably damaging Het
Ptgs2 A T 1: 149,977,740 (GRCm39) probably null Het
Rxfp1 T A 3: 79,559,523 (GRCm39) I433F possibly damaging Het
Sbf1 C T 15: 89,187,418 (GRCm39) probably benign Het
Serpinb13 T G 1: 106,928,484 (GRCm39) F368C probably damaging Het
Slc9c1 T A 16: 45,361,824 (GRCm39) S80R probably damaging Het
Spats2l G T 1: 57,918,715 (GRCm39) V30L probably damaging Het
Stat1 A G 1: 52,176,080 (GRCm39) E195G probably damaging Het
Tbx5 T A 5: 119,983,023 (GRCm39) probably benign Het
Tmem165 A G 5: 76,352,010 (GRCm39) T164A probably damaging Het
Trim66 A T 7: 109,085,252 (GRCm39) probably null Het
Trip10 T A 17: 57,568,409 (GRCm39) V405E possibly damaging Het
Vmn2r92 T A 17: 18,372,275 (GRCm39) C28* probably null Het
Zfp638 T C 6: 83,956,508 (GRCm39) F1705S probably damaging Het
Other mutations in Zbtb8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4514001:Zbtb8a UTSW 4 129,251,523 (GRCm39) missense probably benign 0.01
R1033:Zbtb8a UTSW 4 129,248,014 (GRCm39) missense possibly damaging 0.82
R1183:Zbtb8a UTSW 4 129,251,520 (GRCm39) missense possibly damaging 0.94
R1755:Zbtb8a UTSW 4 129,248,110 (GRCm39) missense possibly damaging 0.71
R2426:Zbtb8a UTSW 4 129,254,012 (GRCm39) missense probably benign 0.00
R2520:Zbtb8a UTSW 4 129,253,689 (GRCm39) critical splice donor site probably null
R5044:Zbtb8a UTSW 4 129,254,293 (GRCm39) missense probably damaging 1.00
R6357:Zbtb8a UTSW 4 129,248,092 (GRCm39) missense probably benign
R7129:Zbtb8a UTSW 4 129,254,188 (GRCm39) missense probably damaging 1.00
R7352:Zbtb8a UTSW 4 129,253,874 (GRCm39) missense probably benign 0.00
R7754:Zbtb8a UTSW 4 129,251,496 (GRCm39) critical splice donor site probably null
R9036:Zbtb8a UTSW 4 129,248,059 (GRCm39) missense probably benign 0.13
R9174:Zbtb8a UTSW 4 129,254,125 (GRCm39) missense probably damaging 1.00
R9176:Zbtb8a UTSW 4 129,254,221 (GRCm39) missense probably damaging 1.00
R9267:Zbtb8a UTSW 4 129,248,267 (GRCm39) nonsense probably null
R9480:Zbtb8a UTSW 4 129,253,875 (GRCm39) missense probably benign 0.03
T0722:Zbtb8a UTSW 4 129,254,005 (GRCm39) missense probably benign
T0722:Zbtb8a UTSW 4 129,253,812 (GRCm39) small insertion probably benign
T0975:Zbtb8a UTSW 4 129,254,005 (GRCm39) missense probably benign
T0975:Zbtb8a UTSW 4 129,253,812 (GRCm39) small insertion probably benign
Posted On 2014-02-04