Incidental Mutation 'IGL03270:Zbtb1'
ID 415225
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb1
Ensembl Gene ENSMUSG00000033454
Gene Name zinc finger and BTB domain containing 1
Synonyms C430003J21Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.677) question?
Stock # IGL03270
Quality Score
Status
Chromosome 12
Chromosomal Location 76417040-76443724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76432289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 92 (S92P)
Ref Sequence ENSEMBL: ENSMUSP00000041955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042779]
AlphaFold Q91VL9
Predicted Effect possibly damaging
Transcript: ENSMUST00000042779
AA Change: S92P

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000041955
Gene: ENSMUSG00000033454
AA Change: S92P

DomainStartEndE-ValueType
BTB 24 121 1.01e-16 SMART
ZnF_C2H2 216 242 2.17e1 SMART
low complexity region 359 368 N/A INTRINSIC
ZnF_C2H2 421 443 3.38e1 SMART
ZnF_C2H2 534 554 1.4e1 SMART
ZnF_C2H2 578 600 2.02e-1 SMART
ZnF_C2H2 606 628 6.23e-2 SMART
ZnF_C2H2 634 656 1.62e0 SMART
ZnF_C2H2 662 684 1.08e-1 SMART
ZnF_C2H2 686 709 1.36e-2 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU induced mutation exhibit abnormal thymus, B cell, and T cell differentiation, and reduced numbers of T, B, and NK cells in the spleen. [provided by MGI curators]
Allele List at MGI

www.informatics.jax.org/javawi2/servlet/WIFetch

Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ctnnd1 A T 2: 84,440,071 (GRCm39) probably null Het
Fcmr A T 1: 130,803,779 (GRCm39) R194S possibly damaging Het
Fmo2 A G 1: 162,709,595 (GRCm39) F264S probably damaging Het
Gfra2 A G 14: 71,163,344 (GRCm39) D209G possibly damaging Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Iigp1c A G 18: 60,378,548 (GRCm39) K28E probably benign Het
Kifap3 T A 1: 163,676,302 (GRCm39) M419K probably benign Het
Lgr6 A C 1: 134,925,442 (GRCm39) I133S probably damaging Het
Med13l A C 5: 118,869,495 (GRCm39) N811T probably damaging Het
Or4c118 A G 2: 88,975,089 (GRCm39) F93L probably damaging Het
Or6k2 T A 1: 173,987,119 (GRCm39) M260K probably benign Het
Pappa2 T A 1: 158,592,637 (GRCm39) D1580V possibly damaging Het
Ppp4r2 T G 6: 100,840,086 (GRCm39) N72K probably damaging Het
Prr27 T C 5: 87,983,537 (GRCm39) probably benign Het
Rad51d A G 11: 82,772,420 (GRCm39) probably benign Het
Rel T C 11: 23,692,584 (GRCm39) N483S probably benign Het
Scn9a A G 2: 66,314,358 (GRCm39) F1776L probably damaging Het
Slco5a1 G A 1: 12,942,252 (GRCm39) T798I probably benign Het
Ttn T C 2: 76,606,811 (GRCm39) D18033G probably damaging Het
Vmn1r46 T A 6: 89,953,756 (GRCm39) S202T probably damaging Het
Vmn2r110 T G 17: 20,803,778 (GRCm39) M266L probably benign Het
Vmn2r26 A T 6: 124,027,778 (GRCm39) D506V probably benign Het
Other mutations in Zbtb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01891:Zbtb1 APN 12 76,432,435 (GRCm39) missense probably damaging 1.00
IGL02097:Zbtb1 APN 12 76,433,371 (GRCm39) missense probably damaging 1.00
IGL02328:Zbtb1 APN 12 76,433,450 (GRCm39) missense possibly damaging 0.75
IGL02496:Zbtb1 APN 12 76,432,169 (GRCm39) missense possibly damaging 0.76
Limited UTSW 12 76,432,601 (GRCm39) missense probably damaging 0.99
Occasional UTSW 12 76,433,784 (GRCm39) missense probably damaging 1.00
Old_friend UTSW 12 76,432,665 (GRCm39) missense probably damaging 0.96
scant UTSW 12 76,432,235 (GRCm39) missense probably damaging 1.00
R0893:Zbtb1 UTSW 12 76,432,113 (GRCm39) missense probably damaging 1.00
R1317:Zbtb1 UTSW 12 76,433,573 (GRCm39) missense probably benign 0.00
R1525:Zbtb1 UTSW 12 76,433,206 (GRCm39) missense probably benign
R1761:Zbtb1 UTSW 12 76,432,595 (GRCm39) nonsense probably null
R2920:Zbtb1 UTSW 12 76,432,619 (GRCm39) missense possibly damaging 0.83
R5307:Zbtb1 UTSW 12 76,433,014 (GRCm39) missense probably damaging 1.00
R5718:Zbtb1 UTSW 12 76,433,698 (GRCm39) missense probably benign
R5975:Zbtb1 UTSW 12 76,433,049 (GRCm39) missense possibly damaging 0.88
R6484:Zbtb1 UTSW 12 76,432,665 (GRCm39) missense probably damaging 0.96
R6493:Zbtb1 UTSW 12 76,433,247 (GRCm39) missense probably benign
R6513:Zbtb1 UTSW 12 76,432,604 (GRCm39) missense possibly damaging 0.55
R6904:Zbtb1 UTSW 12 76,432,985 (GRCm39) nonsense probably null
R6948:Zbtb1 UTSW 12 76,432,601 (GRCm39) missense probably damaging 0.99
R8725:Zbtb1 UTSW 12 76,432,646 (GRCm39) missense probably damaging 1.00
R9202:Zbtb1 UTSW 12 76,433,784 (GRCm39) missense probably damaging 1.00
R9303:Zbtb1 UTSW 12 76,432,773 (GRCm39) missense probably damaging 0.98
R9305:Zbtb1 UTSW 12 76,432,773 (GRCm39) missense probably damaging 0.98
X0028:Zbtb1 UTSW 12 76,432,073 (GRCm39) missense probably damaging 1.00
Z1191:Zbtb1 UTSW 12 76,432,023 (GRCm39) missense probably benign
Posted On 2016-08-02