Incidental Mutation 'IGL01891:Zbtb1'
ID 179251
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 # IGL01891
Quality Score
Status
Chromosome 12
Chromosomal Location 76417040-76443724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76432435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 140 (F140L)
Ref Sequence ENSEMBL: ENSMUSP00000041955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042779]
AlphaFold Q91VL9
Predicted Effect probably damaging
Transcript: ENSMUST00000042779
AA Change: F140L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041955
Gene: ENSMUSG00000033454
AA Change: F140L

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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 T C 4: 49,383,395 (GRCm39) T53A probably benign Het
Aoc1 A G 6: 48,885,776 (GRCm39) probably benign Het
Ctsf G A 19: 4,906,595 (GRCm39) R174Q probably damaging Het
Ddo T C 10: 40,523,643 (GRCm39) V211A possibly damaging Het
Ermp1 T C 19: 29,594,002 (GRCm39) I723V probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
H2-M3 T G 17: 37,583,608 (GRCm39) I322S probably benign Het
Npc1l1 T C 11: 6,164,280 (GRCm39) T1206A probably damaging Het
Pold3 A T 7: 99,737,352 (GRCm39) probably benign Het
Ripor3 T C 2: 167,825,071 (GRCm39) T813A possibly damaging Het
Suco T C 1: 161,666,371 (GRCm39) N510D probably damaging Het
Tas2r120 A G 6: 132,634,807 (GRCm39) *296W probably null Het
Tox2 G T 2: 163,164,903 (GRCm39) K514N possibly damaging Het
Ubr4 G A 4: 139,163,571 (GRCm39) probably null Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zc3h14 T C 12: 98,725,206 (GRCm39) probably benign Het
Other mutations in Zbtb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03270:Zbtb1 APN 12 76,432,289 (GRCm39) missense possibly damaging 0.59
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 2014-05-07