Incidental Mutation 'IGL01358:Zbtb8b'
ID 75595
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb8b
Ensembl Gene ENSMUSG00000048485
Gene Name zinc finger and BTB domain containing 8b
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.358) question?
Stock # IGL01358
Quality Score
Status
Chromosome 4
Chromosomal Location 129319558-129334646 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129327052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 38 (S38P)
Ref Sequence ENSEMBL: ENSMUSP00000101661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053042] [ENSMUST00000106046]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000053042
AA Change: S5P

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000058157
Gene: ENSMUSG00000048485
AA Change: S5P

DomainStartEndE-ValueType
BTB 24 122 1.89e-25 SMART
low complexity region 132 149 N/A INTRINSIC
ZnF_C2H2 331 353 1.12e-3 SMART
ZnF_C2H2 359 382 1.95e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106046
AA Change: S38P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101661
Gene: ENSMUSG00000048485
AA Change: S38P

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
BTB 57 155 1.89e-25 SMART
low complexity region 165 182 N/A INTRINSIC
ZnF_C2H2 364 386 1.12e-3 SMART
ZnF_C2H2 392 415 1.95e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124364
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132556
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A G 7: 27,335,579 (GRCm39) Y316C probably damaging Het
Atp6v0a4 T G 6: 38,051,145 (GRCm39) D411A probably damaging Het
Calr3 A T 8: 73,181,057 (GRCm39) Y178* probably null Het
Ces1e A G 8: 93,940,778 (GRCm39) L298P probably damaging Het
Clk3 T C 9: 57,661,875 (GRCm39) T391A probably damaging Het
Cr2 A G 1: 194,842,128 (GRCm39) I275T probably damaging Het
Cul9 G T 17: 46,849,240 (GRCm39) P635H probably damaging Het
Dhx33 G A 11: 70,884,687 (GRCm39) Q40* probably null Het
Dscam A T 16: 96,411,543 (GRCm39) S1778T possibly damaging Het
Dsg2 T A 18: 20,734,850 (GRCm39) Y943N probably damaging Het
Eml1 A T 12: 108,480,727 (GRCm39) T398S probably benign Het
Epha3 G A 16: 63,416,109 (GRCm39) probably benign Het
Hacl1 A T 14: 31,348,374 (GRCm39) M200K probably benign Het
Ighmbp2 T A 19: 3,318,817 (GRCm39) S420C probably damaging Het
Kcnt1 T A 2: 25,806,017 (GRCm39) I1200N probably damaging Het
Kctd21 T A 7: 96,996,581 (GRCm39) L18Q probably damaging Het
Krt78 A C 15: 101,854,698 (GRCm39) S1038A probably benign Het
Lrp2 C A 2: 69,382,814 (GRCm39) probably benign Het
Lrrc41 T A 4: 115,932,784 (GRCm39) V60D probably benign Het
Mafk T C 5: 139,786,248 (GRCm39) S149P probably damaging Het
Mest T A 6: 30,746,330 (GRCm39) probably benign Het
Nlrp1b G A 11: 71,072,682 (GRCm39) T387I possibly damaging Het
Notch3 C T 17: 32,363,721 (GRCm39) D1140N probably damaging Het
Nxph2 A G 2: 23,290,086 (GRCm39) N146S probably damaging Het
Olfm1 T C 2: 28,119,507 (GRCm39) C381R probably damaging Het
Or56b1b T A 7: 108,164,409 (GRCm39) R198W probably benign Het
Or5p81 C T 7: 108,266,869 (GRCm39) P82L possibly damaging Het
Parp11 C T 6: 127,448,526 (GRCm39) Q48* probably null Het
Pgc T C 17: 48,041,591 (GRCm39) V175A probably benign Het
Pira12 A G 7: 3,898,686 (GRCm39) V254A probably benign Het
Plxna1 G T 6: 89,299,732 (GRCm39) T1679N probably damaging Het
Pnpt1 G T 11: 29,088,425 (GRCm39) L229F possibly damaging Het
Ppp1r12b A T 1: 134,819,897 (GRCm39) L282Q probably damaging Het
Rag2 C A 2: 101,460,365 (GRCm39) A225D possibly damaging Het
Ralgps1 T C 2: 33,033,061 (GRCm39) D456G possibly damaging Het
Rasgrf2 T A 13: 92,130,749 (GRCm39) T170S probably benign Het
Rel C T 11: 23,711,155 (GRCm39) S4N probably benign Het
Rims3 C T 4: 120,748,700 (GRCm39) S307F possibly damaging Het
Rnf123 A G 9: 107,946,381 (GRCm39) L290P probably damaging Het
Rtn4r G T 16: 17,969,260 (GRCm39) M229I possibly damaging Het
Rusc2 G A 4: 43,426,116 (GRCm39) R1407Q probably damaging Het
Sec23ip A T 7: 128,354,521 (GRCm39) Q259L possibly damaging Het
Slc24a4 G A 12: 102,189,894 (GRCm39) C204Y probably benign Het
Slc27a3 T C 3: 90,293,859 (GRCm39) T542A probably damaging Het
Smarcal1 A T 1: 72,655,724 (GRCm39) I668F possibly damaging Het
Snap91 C A 9: 86,688,613 (GRCm39) V311F probably damaging Het
Sp8 T A 12: 118,812,705 (GRCm39) S187T probably damaging Het
Tcerg1 T C 18: 42,657,342 (GRCm39) S275P unknown Het
Vwce T A 19: 10,641,773 (GRCm39) V833D possibly damaging Het
Zfp598 T C 17: 24,900,398 (GRCm39) probably benign Het
Zkscan4 G A 13: 21,668,475 (GRCm39) E309K possibly damaging Het
Other mutations in Zbtb8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01989:Zbtb8b APN 4 129,326,181 (GRCm39) missense probably damaging 1.00
IGL03332:Zbtb8b APN 4 129,322,361 (GRCm39) missense probably damaging 1.00
N/A:Zbtb8b UTSW 4 129,326,361 (GRCm39) missense probably benign
PIT4131001:Zbtb8b UTSW 4 129,321,308 (GRCm39) makesense probably null
R0391:Zbtb8b UTSW 4 129,326,463 (GRCm39) missense probably damaging 1.00
R2389:Zbtb8b UTSW 4 129,327,066 (GRCm39) missense probably benign 0.25
R2392:Zbtb8b UTSW 4 129,326,982 (GRCm39) missense probably damaging 1.00
R2760:Zbtb8b UTSW 4 129,326,293 (GRCm39) missense probably benign 0.04
R5028:Zbtb8b UTSW 4 129,326,793 (GRCm39) missense probably damaging 1.00
R5572:Zbtb8b UTSW 4 129,322,334 (GRCm39) missense probably damaging 1.00
R6029:Zbtb8b UTSW 4 129,322,286 (GRCm39) missense probably damaging 1.00
R6671:Zbtb8b UTSW 4 129,321,577 (GRCm39) missense probably damaging 0.99
R6714:Zbtb8b UTSW 4 129,326,776 (GRCm39) missense probably damaging 1.00
R7039:Zbtb8b UTSW 4 129,321,478 (GRCm39) missense possibly damaging 0.48
R7392:Zbtb8b UTSW 4 129,326,683 (GRCm39) missense probably benign 0.01
R7454:Zbtb8b UTSW 4 129,326,562 (GRCm39) missense possibly damaging 0.75
R7634:Zbtb8b UTSW 4 129,326,755 (GRCm39) missense probably damaging 1.00
R8017:Zbtb8b UTSW 4 129,322,238 (GRCm39) missense probably damaging 1.00
R8444:Zbtb8b UTSW 4 129,326,424 (GRCm39) missense probably benign
R9366:Zbtb8b UTSW 4 129,326,151 (GRCm39) missense probably benign 0.01
R9417:Zbtb8b UTSW 4 129,326,517 (GRCm39) missense probably benign 0.00
R9467:Zbtb8b UTSW 4 129,326,319 (GRCm39) missense probably benign 0.41
Posted On 2013-10-07