Incidental Mutation 'IGL01611:Zbtb11'
ID92121
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb11
Ensembl Gene ENSMUSG00000022601
Gene Namezinc finger and BTB domain containing 11
SynonymsZNF-U69274, 9230110G02Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.971) question?
Stock #IGL01611
Quality Score
Status
Chromosome16
Chromosomal Location55973883-56008913 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55980610 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 109 (V109A)
Ref Sequence ENSEMBL: ENSMUSP00000056923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050248]
Predicted Effect probably damaging
Transcript: ENSMUST00000050248
AA Change: V109A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000056923
Gene: ENSMUSG00000022601
AA Change: V109A

DomainStartEndE-ValueType
low complexity region 136 158 N/A INTRINSIC
low complexity region 161 177 N/A INTRINSIC
BTB 214 312 4.77e-13 SMART
low complexity region 371 399 N/A INTRINSIC
ZnF_C2H2 566 588 1.1e-2 SMART
ZnF_C2H2 594 616 2.09e-3 SMART
low complexity region 623 640 N/A INTRINSIC
ZnF_C2H2 648 670 4.47e-3 SMART
ZnF_C2H2 676 698 8.22e-2 SMART
ZnF_C2H2 704 726 2.27e-4 SMART
ZnF_C2H2 732 754 1.28e-3 SMART
ZnF_C2H2 763 785 2.95e-3 SMART
ZnF_C2H2 791 813 7.67e-2 SMART
ZnF_C2H2 819 843 2.95e-3 SMART
ZnF_C2H2 855 877 1.67e-2 SMART
ZnF_C2H2 883 905 3.02e0 SMART
ZnF_C2H2 911 934 9.58e-3 SMART
low complexity region 979 994 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122365
SMART Domains Protein: ENSMUSP00000114135
Gene: ENSMUSG00000022601

DomainStartEndE-ValueType
TRASH 6 44 9.53e-6 SMART
coiled coil region 102 126 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,907,870 L209S possibly damaging Het
Abcc2 G T 19: 43,826,629 V1152F probably damaging Het
Adam9 C T 8: 24,967,196 V639I probably benign Het
Cdc6 A G 11: 98,915,163 I388V probably benign Het
Chrm5 C T 2: 112,480,306 W155* probably null Het
Chrna9 A G 5: 65,970,944 D161G probably damaging Het
Det1 A G 7: 78,827,954 V541A possibly damaging Het
Efhc1 G T 1: 20,990,687 *649L probably null Het
Ehbp1 C T 11: 22,172,883 V146M probably damaging Het
Enam A C 5: 88,503,749 D1039A probably damaging Het
Fam20b A T 1: 156,702,465 V133E probably benign Het
Frem2 T A 3: 53,655,709 Q459L probably benign Het
Gapdhs C T 7: 30,730,441 probably benign Het
Gm3404 T A 5: 146,528,347 V299D possibly damaging Het
Gorasp2 C A 2: 70,689,260 H310N possibly damaging Het
Gpr157 T C 4: 150,101,637 S219P possibly damaging Het
Gpt2 T A 8: 85,519,538 C375* probably null Het
Gtf2h3 T C 5: 124,595,685 S274P probably damaging Het
Hmg20b C T 10: 81,347,475 V83M probably benign Het
Igf2r G T 17: 12,725,415 Y400* probably null Het
Ipo9 A T 1: 135,386,693 W942R possibly damaging Het
Iqch T C 9: 63,496,237 probably null Het
Kcnh3 T C 15: 99,229,502 L393P probably benign Het
Kcnk12 T A 17: 87,797,067 I130L probably benign Het
Lcorl T C 5: 45,747,092 T205A probably damaging Het
Lpar6 G T 14: 73,239,438 A280S probably damaging Het
Mgarp A T 3: 51,389,149 V152E probably damaging Het
Pard3b A G 1: 62,637,862 D1184G probably damaging Het
Pcnt A G 10: 76,436,424 probably null Het
Pde6b A G 5: 108,403,396 N182S possibly damaging Het
Pom121 T C 5: 135,383,672 K516E unknown Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Ptpn18 T C 1: 34,459,817 probably benign Het
Rapgef5 C T 12: 117,753,419 probably benign Het
Ryr2 A G 13: 11,591,316 L4460S possibly damaging Het
Sema6b T C 17: 56,129,969 probably null Het
Serpinb6d T A 13: 33,666,392 C67* probably null Het
Sorbs2 T G 8: 45,795,344 V510G probably null Het
Spic T A 10: 88,676,002 I131F possibly damaging Het
Spire2 T C 8: 123,359,398 S290P probably damaging Het
Tas2r117 C T 6: 132,803,484 S195F probably benign Het
Tas2r117 T C 6: 132,803,487 V196A probably damaging Het
Tff1 C T 17: 31,162,729 G58D probably damaging Het
Tmprss11g T C 5: 86,490,781 T283A probably benign Het
Toporsl T A 4: 52,610,794 L229H probably damaging Het
Vmn2r80 G A 10: 79,171,654 G488D probably damaging Het
Vps54 T A 11: 21,311,082 V583D probably damaging Het
Vwa1 T C 4: 155,770,798 E286G possibly damaging Het
Vwde A T 6: 13,219,978 I58N probably damaging Het
Zfp319 C T 8: 95,328,912 R221Q probably benign Het
Other mutations in Zbtb11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Zbtb11 APN 16 56000602 nonsense probably null
IGL01107:Zbtb11 APN 16 56006007 missense probably damaging 1.00
IGL01341:Zbtb11 APN 16 55990931 missense possibly damaging 0.68
IGL01510:Zbtb11 APN 16 55990343 missense probably damaging 0.99
IGL01736:Zbtb11 APN 16 55998160 missense probably damaging 1.00
IGL01834:Zbtb11 APN 16 55991008 missense probably benign 0.35
IGL02427:Zbtb11 APN 16 55982350 missense possibly damaging 0.95
IGL02441:Zbtb11 APN 16 55974189 missense possibly damaging 0.94
IGL02455:Zbtb11 APN 16 56000675 missense probably damaging 1.00
PIT4544001:Zbtb11 UTSW 16 55998193 nonsense probably null
R0987:Zbtb11 UTSW 16 55990708 missense probably benign 0.00
R1414:Zbtb11 UTSW 16 55990560 nonsense probably null
R1437:Zbtb11 UTSW 16 55991620 critical splice donor site probably null
R1570:Zbtb11 UTSW 16 55990815 missense probably benign
R1658:Zbtb11 UTSW 16 55974225 missense possibly damaging 0.71
R1735:Zbtb11 UTSW 16 55990682 missense probably benign
R2048:Zbtb11 UTSW 16 55998009 missense probably damaging 1.00
R2925:Zbtb11 UTSW 16 55974084 missense probably benign 0.00
R4072:Zbtb11 UTSW 16 55998064 missense possibly damaging 0.89
R4075:Zbtb11 UTSW 16 55998064 missense possibly damaging 0.89
R4076:Zbtb11 UTSW 16 55998064 missense possibly damaging 0.89
R5023:Zbtb11 UTSW 16 56006065 missense probably damaging 1.00
R5755:Zbtb11 UTSW 16 56000713 missense probably benign 0.02
R5757:Zbtb11 UTSW 16 56007029 missense probably damaging 1.00
R6218:Zbtb11 UTSW 16 55998073 missense probably benign 0.00
R6313:Zbtb11 UTSW 16 55990491 missense probably benign 0.03
R6461:Zbtb11 UTSW 16 56006871 missense probably damaging 0.99
R6666:Zbtb11 UTSW 16 56006252 missense probably damaging 1.00
R6807:Zbtb11 UTSW 16 55990502 missense probably benign 0.03
R7194:Zbtb11 UTSW 16 56007188 missense probably damaging 1.00
R7424:Zbtb11 UTSW 16 55990487 missense probably benign 0.01
R8022:Zbtb11 UTSW 16 56006020 missense probably damaging 0.99
R8436:Zbtb11 UTSW 16 56000659 nonsense probably null
R8532:Zbtb11 UTSW 16 55990889 missense probably benign 0.03
R8806:Zbtb11 UTSW 16 55982274 missense probably damaging 1.00
RF014:Zbtb11 UTSW 16 55980597 missense probably damaging 0.97
Z1176:Zbtb11 UTSW 16 55991502 nonsense probably null
Posted On2013-12-09