Incidental Mutation 'IGL00592:Zbtb4'
ID14905
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb4
Ensembl Gene ENSMUSG00000018750
Gene Namezinc finger and BTB domain containing 4
Synonyms9230111I22Rik, 2310026P19Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00592
Quality Score
Status
Chromosome11
Chromosomal Location69765912-69784023 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 69776731 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 287 (C287*)
Ref Sequence ENSEMBL: ENSMUSP00000104280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108638] [ENSMUST00000108639] [ENSMUST00000108640] [ENSMUST00000108642] [ENSMUST00000132528] [ENSMUST00000153943] [ENSMUST00000156932]
Predicted Effect probably null
Transcript: ENSMUST00000108638
AA Change: C287*
SMART Domains Protein: ENSMUSP00000104278
Gene: ENSMUSG00000018750
AA Change: C287*

DomainStartEndE-ValueType
BTB 30 166 2e-15 SMART
ZnF_C2H2 210 230 1.91e1 SMART
low complexity region 240 261 N/A INTRINSIC
low complexity region 274 283 N/A INTRINSIC
ZnF_C2H2 285 307 1.53e-1 SMART
ZnF_C2H2 313 335 1.91e1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000108639
AA Change: C287*
SMART Domains Protein: ENSMUSP00000104279
Gene: ENSMUSG00000018750
AA Change: C287*

DomainStartEndE-ValueType
BTB 30 166 2e-15 SMART
ZnF_C2H2 210 230 1.91e1 SMART
low complexity region 240 261 N/A INTRINSIC
low complexity region 274 283 N/A INTRINSIC
ZnF_C2H2 285 307 1.53e-1 SMART
ZnF_C2H2 313 335 1.91e1 SMART
ZnF_C2H2 341 364 5.81e-2 SMART
low complexity region 422 445 N/A INTRINSIC
low complexity region 461 482 N/A INTRINSIC
low complexity region 485 532 N/A INTRINSIC
low complexity region 551 568 N/A INTRINSIC
coiled coil region 601 637 N/A INTRINSIC
low complexity region 650 662 N/A INTRINSIC
low complexity region 664 673 N/A INTRINSIC
ZnF_C2H2 700 722 3.78e-1 SMART
ZnF_C2H2 739 761 6.23e-2 SMART
low complexity region 799 820 N/A INTRINSIC
low complexity region 947 961 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000108640
AA Change: C287*
SMART Domains Protein: ENSMUSP00000104280
Gene: ENSMUSG00000018750
AA Change: C287*

DomainStartEndE-ValueType
BTB 30 166 2e-15 SMART
ZnF_C2H2 210 230 1.91e1 SMART
low complexity region 240 261 N/A INTRINSIC
low complexity region 274 283 N/A INTRINSIC
ZnF_C2H2 285 307 1.53e-1 SMART
ZnF_C2H2 313 335 1.91e1 SMART
ZnF_C2H2 341 364 5.81e-2 SMART
low complexity region 422 445 N/A INTRINSIC
low complexity region 461 482 N/A INTRINSIC
low complexity region 485 532 N/A INTRINSIC
low complexity region 551 568 N/A INTRINSIC
coiled coil region 601 637 N/A INTRINSIC
low complexity region 650 662 N/A INTRINSIC
low complexity region 664 673 N/A INTRINSIC
ZnF_C2H2 700 722 3.78e-1 SMART
ZnF_C2H2 739 761 6.23e-2 SMART
low complexity region 799 820 N/A INTRINSIC
low complexity region 947 961 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108642
SMART Domains Protein: ENSMUSP00000104282
Gene: ENSMUSG00000018750

DomainStartEndE-ValueType
BTB 30 166 2e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132528
SMART Domains Protein: ENSMUSP00000121694
Gene: ENSMUSG00000018750

DomainStartEndE-ValueType
Pfam:BTB 20 56 6.6e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153943
SMART Domains Protein: ENSMUSP00000118027
Gene: ENSMUSG00000018750

DomainStartEndE-ValueType
Pfam:BTB 20 51 5.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156932
SMART Domains Protein: ENSMUSP00000115687
Gene: ENSMUSG00000018750

DomainStartEndE-ValueType
Pfam:BTB 20 51 6e-8 PFAM
low complexity region 68 85 N/A INTRINSIC
low complexity region 123 136 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 A G 3: 138,420,636 I91V probably damaging Het
Ak6 T C 13: 100,664,091 V74A probably benign Het
Antxr1 C A 6: 87,288,802 V110F probably damaging Het
Anxa1 T C 19: 20,377,669 D247G probably benign Het
Dgkg T C 16: 22,479,362 probably benign Het
Eva1b T C 4: 126,149,650 M161T probably benign Het
Fbxw22 C A 9: 109,384,040 V280F possibly damaging Het
Klhl9 A G 4: 88,721,141 S288P probably damaging Het
Masp2 C T 4: 148,602,729 P23S probably benign Het
Ncam1 T A 9: 49,523,565 D600V probably damaging Het
Pcnx4 A G 12: 72,579,365 N1115S probably damaging Het
Pdia2 A G 17: 26,198,116 V109A probably damaging Het
Pla1a G T 16: 38,414,850 H161N probably damaging Het
Prokr2 A T 2: 132,381,504 D39E probably benign Het
Sall4 T C 2: 168,755,963 D319G probably damaging Het
Sgms2 A G 3: 131,341,833 S131P possibly damaging Het
Slc22a2 A T 17: 12,608,418 Q319L possibly damaging Het
Slc27a5 A G 7: 12,988,639 I636T probably benign Het
Tas2r131 T G 6: 132,957,196 T217P probably damaging Het
Trh T C 6: 92,242,742 M198V possibly damaging Het
Ube2b A C 11: 51,986,719 V141G probably damaging Het
Ube2l6 T A 2: 84,809,029 V112E probably damaging Het
Vmn1r79 T C 7: 12,177,007 I272T probably benign Het
Xylb C T 9: 119,390,483 Q513* probably null Het
Other mutations in Zbtb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02178:Zbtb4 APN 11 69776429 nonsense probably null
R0092:Zbtb4 UTSW 11 69779351 missense probably benign
R0403:Zbtb4 UTSW 11 69777639 missense probably damaging 0.99
R1276:Zbtb4 UTSW 11 69776219 missense probably damaging 1.00
R1654:Zbtb4 UTSW 11 69779169 missense probably damaging 0.98
R1734:Zbtb4 UTSW 11 69776463 missense probably benign 0.13
R1762:Zbtb4 UTSW 11 69778917 missense probably benign 0.03
R2224:Zbtb4 UTSW 11 69776358 missense probably benign 0.43
R2930:Zbtb4 UTSW 11 69776516 nonsense probably null
R4670:Zbtb4 UTSW 11 69776529 missense probably damaging 0.97
R4998:Zbtb4 UTSW 11 69778671 missense probably benign 0.31
R5956:Zbtb4 UTSW 11 69778214 missense probably benign 0.29
R5988:Zbtb4 UTSW 11 69778964 missense probably damaging 1.00
R6115:Zbtb4 UTSW 11 69776322 missense probably damaging 1.00
R6237:Zbtb4 UTSW 11 69778243 missense possibly damaging 0.70
R6803:Zbtb4 UTSW 11 69778628 missense possibly damaging 0.92
R7395:Zbtb4 UTSW 11 69776111 missense possibly damaging 0.58
R7756:Zbtb4 UTSW 11 69778542 missense probably benign 0.27
R7758:Zbtb4 UTSW 11 69778542 missense probably benign 0.27
Posted On2012-12-06