Incidental Mutation 'IGL02097:Zbtb1'
ID 279642
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 # IGL02097
Quality Score
Status
Chromosome 12
Chromosomal Location 76417040-76443724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76433371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 452 (K452N)
Ref Sequence ENSEMBL: ENSMUSP00000041955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042779]
AlphaFold Q91VL9
Predicted Effect probably damaging
Transcript: ENSMUST00000042779
AA Change: K452N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041955
Gene: ENSMUSG00000033454
AA Change: K452N

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A T 5: 105,109,052 (GRCm39) V415D possibly damaging Het
Adcy3 C T 12: 4,262,118 (GRCm39) A1056V probably damaging Het
Adcy5 G A 16: 35,092,468 (GRCm39) A610T probably damaging Het
Arhgap21 G A 2: 20,884,813 (GRCm39) T788I probably benign Het
Asic1 T C 15: 99,592,567 (GRCm39) probably benign Het
Cdhr4 T A 9: 107,870,199 (GRCm39) M68K probably benign Het
Cdhr5 G T 7: 140,849,894 (GRCm39) T637K probably damaging Het
Corin A T 5: 72,529,489 (GRCm39) C289S probably damaging Het
Cpne4 T C 9: 104,563,701 (GRCm39) V26A probably damaging Het
Csmd1 T C 8: 16,261,773 (GRCm39) D908G probably null Het
Cyp2c29 A G 19: 39,296,064 (GRCm39) D126G probably damaging Het
Ddx42 G A 11: 106,129,986 (GRCm39) S426N probably benign Het
Dnah1 C T 14: 31,026,958 (GRCm39) V689M possibly damaging Het
Dtwd1 A G 2: 126,006,715 (GRCm39) T246A probably damaging Het
Fbn1 A T 2: 125,205,889 (GRCm39) M1036K probably damaging Het
Fbxo10 T C 4: 45,048,527 (GRCm39) N536S probably benign Het
Gnal G A 18: 67,350,279 (GRCm39) probably benign Het
Gns A G 10: 121,226,598 (GRCm39) T416A probably benign Het
Heatr5b G A 17: 79,124,943 (GRCm39) T603I probably damaging Het
Hsp90b1 T A 10: 86,527,548 (GRCm39) probably benign Het
Krt23 C T 11: 99,383,836 (GRCm39) G19R probably benign Het
Lama2 C T 10: 27,014,956 (GRCm39) R1584H probably benign Het
Lmbr1l C T 15: 98,815,772 (GRCm39) V11M probably damaging Het
Man1a2 T C 3: 100,489,447 (GRCm39) K511E possibly damaging Het
Mrgpra3 C A 7: 47,239,204 (GRCm39) V241F possibly damaging Het
Myh3 A G 11: 66,973,750 (GRCm39) D141G probably benign Het
Mylk2 G A 2: 152,757,056 (GRCm39) C277Y probably damaging Het
Myo3b A T 2: 70,069,173 (GRCm39) T471S probably damaging Het
Naip1 A G 13: 100,562,096 (GRCm39) V1023A probably benign Het
Olfm5 T A 7: 103,803,438 (GRCm39) T342S probably benign Het
Or10g1 A G 14: 52,647,511 (GRCm39) F273L probably benign Het
Or2f1b T A 6: 42,739,394 (GRCm39) M136K probably damaging Het
Pglyrp4 T C 3: 90,642,910 (GRCm39) F263L probably benign Het
Plekhh2 A T 17: 84,906,608 (GRCm39) T1148S possibly damaging Het
Prrc2b T C 2: 32,081,513 (GRCm39) probably benign Het
Rbm28 G T 6: 29,138,617 (GRCm39) D398E possibly damaging Het
Rnf220 A G 4: 117,130,524 (GRCm39) F234L probably benign Het
Sele T C 1: 163,880,662 (GRCm39) S415P probably benign Het
Shpk T C 11: 73,094,821 (GRCm39) L79P probably damaging Het
Slc35f4 C T 14: 49,543,703 (GRCm39) A148T probably damaging Het
Slc6a20a G A 9: 123,489,684 (GRCm39) P120S possibly damaging Het
Slc8a2 A G 7: 15,891,081 (GRCm39) E701G possibly damaging Het
Slco1a1 T A 6: 141,885,765 (GRCm39) I87F possibly damaging Het
Srebf1 T G 11: 60,093,650 (GRCm39) D739A probably damaging Het
Thg1l A G 11: 45,841,055 (GRCm39) Y175H probably benign Het
Traf3ip2 G A 10: 39,530,475 (GRCm39) V540M probably damaging Het
Wdr48 A G 9: 119,753,329 (GRCm39) D644G probably damaging Het
Zfhx2 C T 14: 55,300,351 (GRCm39) G2467R probably damaging Het
Zfp334 A T 2: 165,223,643 (GRCm39) Y133* probably null Het
Other mutations in Zbtb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01891:Zbtb1 APN 12 76,432,435 (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 2015-04-16