Incidental Mutation 'IGL02328:Zbtb1'
ID 288576
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: 0.711) question?
Stock # IGL02328
Quality Score
Status
Chromosome 12
Chromosomal Location 76370266-76396950 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76386676 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 479 (N479D)
Ref Sequence ENSEMBL: ENSMUSP00000041955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042779]
AlphaFold Q91VL9
Predicted Effect possibly damaging
Transcript: ENSMUST00000042779
AA Change: N479D

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000041955
Gene: ENSMUSG00000033454
AA Change: N479D

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,578,175 N577I probably damaging Het
Arhgef1 T C 7: 24,923,815 L667P probably damaging Het
Btk G A X: 134,558,700 P192L probably damaging Het
Col12a1 T A 9: 79,682,066 Y1069F probably damaging Het
Dnah7a C T 1: 53,524,937 probably null Het
E230025N22Rik A G 18: 36,695,614 S4P probably damaging Het
Ei24 A T 9: 36,785,531 probably null Het
Foxred2 A G 15: 77,955,832 L86P probably damaging Het
Gm3127 A T 14: 4,165,216 R42W probably damaging Het
Hgf A G 5: 16,598,221 Y377C probably damaging Het
Hpse2 A T 19: 42,931,599 L354I probably damaging Het
Hspa4 A G 11: 53,300,058 probably null Het
Iqcg T G 16: 33,019,506 I357L probably benign Het
Itsn1 T C 16: 91,815,407 L204P probably damaging Het
Kalrn T C 16: 34,332,224 N311S probably damaging Het
Lmod2 A G 6: 24,603,833 D269G probably benign Het
Med16 A G 10: 79,907,542 S29P probably damaging Het
Mex3b T C 7: 82,869,712 S412P probably benign Het
Myo15 A G 11: 60,526,607 I3443V probably benign Het
Naip2 A T 13: 100,161,369 L720I probably damaging Het
Olfr1427 T A 19: 12,098,782 I286F probably damaging Het
Olfr385 A G 11: 73,589,255 V161A probably benign Het
Olfr599 A T 7: 103,338,290 I79F probably damaging Het
Olfr806 T C 10: 129,738,026 D297G probably benign Het
Olfr904 A T 9: 38,464,676 I212F probably benign Het
Pan3 A G 5: 147,530,123 probably null Het
Pitpnm2 T C 5: 124,121,414 Q1286R probably damaging Het
Scgb2b24 A G 7: 33,738,625 probably benign Het
Sh2b3 T C 5: 121,817,859 D520G probably benign Het
Skint4 T A 4: 112,120,058 I215N possibly damaging Het
Slc24a5 A G 2: 125,080,639 D107G probably damaging Het
Slit2 T C 5: 48,230,304 I549T probably damaging Het
Stambp A G 6: 83,556,381 L300P possibly damaging Het
Taf2 T C 15: 55,028,376 N1017S probably benign Het
Tm9sf2 T G 14: 122,143,430 V145G possibly damaging Het
Tor1aip2 G T 1: 156,064,974 C342F probably damaging Het
Ubr4 C T 4: 139,478,922 T4823M probably damaging Het
Vmn1r80 G T 7: 12,193,478 A172S probably benign Het
Vmn2r67 T A 7: 85,150,690 N447Y probably benign Het
Other mutations in Zbtb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01891:Zbtb1 APN 12 76385661 missense probably damaging 1.00
IGL02097:Zbtb1 APN 12 76386597 missense probably damaging 1.00
IGL02496:Zbtb1 APN 12 76385395 missense possibly damaging 0.76
IGL03270:Zbtb1 APN 12 76385515 missense possibly damaging 0.59
Limited UTSW 12 76385827 missense probably damaging 0.99
Occasional UTSW 12 76387010 missense probably damaging 1.00
Old_friend UTSW 12 76385891 missense probably damaging 0.96
scant UTSW 12 76385461 missense probably damaging 1.00
R0893:Zbtb1 UTSW 12 76385339 missense probably damaging 1.00
R1317:Zbtb1 UTSW 12 76386799 missense probably benign 0.00
R1525:Zbtb1 UTSW 12 76386432 missense probably benign
R1761:Zbtb1 UTSW 12 76385821 nonsense probably null
R2920:Zbtb1 UTSW 12 76385845 missense possibly damaging 0.83
R5307:Zbtb1 UTSW 12 76386240 missense probably damaging 1.00
R5718:Zbtb1 UTSW 12 76386924 missense probably benign
R5975:Zbtb1 UTSW 12 76386275 missense possibly damaging 0.88
R6484:Zbtb1 UTSW 12 76385891 missense probably damaging 0.96
R6493:Zbtb1 UTSW 12 76386473 missense probably benign
R6513:Zbtb1 UTSW 12 76385830 missense possibly damaging 0.55
R6904:Zbtb1 UTSW 12 76386211 nonsense probably null
R6948:Zbtb1 UTSW 12 76385827 missense probably damaging 0.99
R8725:Zbtb1 UTSW 12 76385872 missense probably damaging 1.00
R9202:Zbtb1 UTSW 12 76387010 missense probably damaging 1.00
R9303:Zbtb1 UTSW 12 76385999 missense probably damaging 0.98
R9305:Zbtb1 UTSW 12 76385999 missense probably damaging 0.98
X0028:Zbtb1 UTSW 12 76385299 missense probably damaging 1.00
Z1191:Zbtb1 UTSW 12 76385249 missense probably benign
Posted On 2015-04-16