Incidental Mutation 'IGL01341:Zbtb11'
ID74854
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: 0.969) question?
Stock #IGL01341
Quality Score
Status
Chromosome16
Chromosomal Location55973883-56008913 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 55990931 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 484 (L484R)
Ref Sequence ENSEMBL: ENSMUSP00000056923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050248]
Predicted Effect possibly damaging
Transcript: ENSMUST00000050248
AA Change: L484R

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000056923
Gene: ENSMUSG00000022601
AA Change: L484R

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: ENSMUST00000183440
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 9,011,703 H3450Q probably benign Het
Arcn1 A G 9: 44,757,192 I249T possibly damaging Het
Arhgef5 G A 6: 43,283,991 R1450H probably damaging Het
Cdh26 A T 2: 178,457,447 D113V probably damaging Het
Cnot4 A G 6: 35,070,254 V141A probably damaging Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Ctsll3 C T 13: 60,798,999 D269N probably benign Het
Dnttip2 T C 3: 122,276,612 I492T probably damaging Het
Gimap8 A G 6: 48,658,767 S489G probably damaging Het
Glra2 T C X: 165,324,566 D46G probably damaging Het
Gm7094 A G 1: 21,272,883 noncoding transcript Het
Gmps T C 3: 64,015,440 I608T probably damaging Het
Gzma A G 13: 113,093,884 probably benign Het
H2-Q4 T A 17: 35,383,002 V280E probably damaging Het
Jak1 C T 4: 101,175,093 G439S probably damaging Het
Kars T C 8: 111,994,974 I556V probably benign Het
Kifc2 T C 15: 76,662,898 probably null Het
Kit T C 5: 75,607,074 I39T probably damaging Het
Map3k6 G T 4: 133,248,060 R702L possibly damaging Het
Marveld3 T A 8: 109,948,417 T256S possibly damaging Het
Nkd1 G A 8: 88,591,552 probably benign Het
Olfr1109 T A 2: 87,093,299 I33L probably benign Het
Olfr805 G A 10: 129,722,878 T222I possibly damaging Het
Pax2 A G 19: 44,790,688 S167G probably damaging Het
Pdlim3 T A 8: 45,915,240 D258E probably benign Het
Ppip5k1 A T 2: 121,343,210 C393* probably null Het
Pxdn T C 12: 30,002,487 S888P probably damaging Het
Relb T C 7: 19,616,373 I218V probably benign Het
Reln T A 5: 21,969,079 I2009F probably damaging Het
Sec23b T C 2: 144,585,733 S627P probably benign Het
Slc2a8 T A 2: 32,975,991 Q39L probably damaging Het
Tmem143 T C 7: 45,916,134 Y340H probably damaging Het
Ttn A G 2: 76,730,319 V29246A probably damaging Het
Wdr81 T C 11: 75,445,601 D1654G probably damaging Het
Zcchc8 A G 5: 123,704,569 V367A 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
IGL01510:Zbtb11 APN 16 55990343 missense probably damaging 0.99
IGL01611:Zbtb11 APN 16 55980610 missense probably damaging 1.00
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 On2013-10-07