Incidental Mutation 'R1033:Zbtb8a'
ID 95227
Institutional Source Beutler Lab
Gene Symbol Zbtb8a
Ensembl Gene ENSMUSG00000028807
Gene Name zinc finger and BTB domain containing 8a
Synonyms 2410081M15Rik
MMRRC Submission 039132-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R1033 (G1)
Quality Score 150
Status Not validated
Chromosome 4
Chromosomal Location 129247425-129271821 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129248014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 419 (D419G)
Ref Sequence ENSEMBL: ENSMUSP00000030610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030610] [ENSMUST00000141235] [ENSMUST00000146767]
AlphaFold Q9CWH1
Predicted Effect possibly damaging
Transcript: ENSMUST00000030610
AA Change: D419G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030610
Gene: ENSMUSG00000028807
AA Change: D419G

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: ENSMUST00000141235
SMART Domains Protein: ENSMUSP00000120925
Gene: ENSMUSG00000057572

DomainStartEndE-ValueType
Pfam:Archease 31 167 3.3e-49 PFAM
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
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 91.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,024,130 (GRCm39) T174M probably damaging Het
Akap6 A C 12: 53,116,005 (GRCm39) D1036A probably damaging Het
Alg6 T C 4: 99,650,270 (GRCm39) S497P probably benign Het
Arhgap10 T A 8: 77,983,976 (GRCm39) I700L possibly damaging Het
Atp11a A G 8: 12,878,555 (GRCm39) Y377C probably damaging Het
Atp2b2 A T 6: 113,770,849 (GRCm39) probably null Het
Card14 T A 11: 119,229,196 (GRCm39) V702D probably damaging Het
Ccdc17 C T 4: 116,454,077 (GRCm39) R32* probably null Het
Cdh20 A T 1: 110,012,783 (GRCm39) D372V probably damaging Het
Cfap54 A T 10: 92,675,311 (GRCm39) I2870N probably benign Het
Cped1 G T 6: 22,016,950 (GRCm39) V100F probably damaging Het
Dapk1 T C 13: 60,869,679 (GRCm39) probably null Het
Exoc4 G A 6: 33,242,922 (GRCm39) G45D probably damaging Het
Fam110b A T 4: 5,799,440 (GRCm39) N286I probably benign Het
Fbxo10 A T 4: 45,062,236 (GRCm39) C97S probably damaging Het
Frem3 A T 8: 81,421,786 (GRCm39) H2062L probably benign Het
Frk T C 10: 34,484,454 (GRCm39) C476R probably damaging Het
Gm10542 A G 18: 44,337,668 (GRCm39) T49A probably benign Het
Gm128 A G 3: 95,147,322 (GRCm39) V324A possibly damaging Het
Gpr141 C T 13: 19,935,880 (GRCm39) M298I probably benign Het
Gxylt1 T C 15: 93,142,958 (GRCm39) E369G probably benign Het
Hpse2 A G 19: 42,901,638 (GRCm39) V368A probably benign Het
Ice1 A T 13: 70,754,713 (GRCm39) S458T probably damaging Het
Itgb7 T A 15: 102,131,989 (GRCm39) D198V probably damaging Het
Kcnk10 A G 12: 98,484,929 (GRCm39) V72A possibly damaging Het
Magel2 A G 7: 62,029,798 (GRCm39) M901V unknown Het
Mgam A T 6: 40,657,558 (GRCm39) Y971F probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mug1 A T 6: 121,857,510 (GRCm39) D1078V probably damaging Het
Myom2 G A 8: 15,158,934 (GRCm39) R870H probably benign Het
Nek8 A T 11: 78,062,111 (GRCm39) L71Q probably null Het
Nox4 T A 7: 87,023,621 (GRCm39) D502E probably damaging Het
Nsmaf G A 4: 6,438,054 (GRCm39) P73S probably damaging Het
Nup205 C T 6: 35,204,377 (GRCm39) A1421V probably benign Het
Nxpe4 T C 9: 48,304,533 (GRCm39) F207L probably damaging Het
Or1p1 A C 11: 74,179,492 (GRCm39) T7P probably damaging Het
Or3a1 A C 11: 74,225,462 (GRCm39) N198K possibly damaging Het
Or4k38 A T 2: 111,166,147 (GRCm39) I92N probably damaging Het
Or5al7 A G 2: 85,993,194 (GRCm39) I33T possibly damaging Het
Pals2 T C 6: 50,160,716 (GRCm39) Y326H probably damaging Het
Prkdc T C 16: 15,585,815 (GRCm39) L2451P probably damaging Het
Rad51ap2 C T 12: 11,506,252 (GRCm39) S58F probably damaging Het
Rbbp8 A G 18: 11,875,762 (GRCm39) R892G probably benign Het
Rock1 A G 18: 10,067,535 (GRCm39) S1333P probably benign Het
Rpl7 A G 1: 16,172,728 (GRCm39) I197T probably benign Het
Sar1a C A 10: 61,521,395 (GRCm39) Q81K probably damaging Het
Shank1 A T 7: 44,006,220 (GRCm39) H1979L possibly damaging Het
Slc10a2 C T 8: 5,154,889 (GRCm39) V99M probably damaging Het
Slc22a30 G A 19: 8,313,165 (GRCm39) Q436* probably null Het
Spata31e2 G A 1: 26,721,466 (GRCm39) P1238L probably benign Het
Speer4a2 T C 5: 26,294,125 (GRCm39) K18E probably benign Het
Szt2 C T 4: 118,244,303 (GRCm39) R1305H probably damaging Het
Ubash3a G A 17: 31,427,186 (GRCm39) G32S probably damaging Het
Vmn1r200 G A 13: 22,580,060 (GRCm39) D279N probably damaging Het
Other mutations in Zbtb8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01758:Zbtb8a APN 4 129,251,640 (GRCm39) missense probably damaging 1.00
PIT4514001:Zbtb8a UTSW 4 129,251,523 (GRCm39) missense probably benign 0.01
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
Predicted Primers PCR Primer
(F):5'- AGGTCTTCCCAGTGCAGCAACAAC -3'
(R):5'- GCTGATGTGGGCATGGAAAGTCTC -3'

Sequencing Primer
(F):5'- CGGTGGCCTTTTCAGAAAGC -3'
(R):5'- ATGGAAAGTCTCCCTGCTGAC -3'
Posted On 2014-01-05