Incidental Mutation 'V5088:Zbtb12'
ID 44068
Institutional Source Beutler Lab
Gene Symbol Zbtb12
Ensembl Gene ENSMUSG00000049823
Gene Name zinc finger and BTB domain containing 12
Synonyms Bat-9, Bat9
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # V5088 () of strain 521
Quality Score 159
Status Not validated
Chromosome 17
Chromosomal Location 35113514-35115820 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 35115277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 354 (A354E)
Ref Sequence ENSEMBL: ENSMUSP00000057515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013931] [ENSMUST00000052778] [ENSMUST00000078061] [ENSMUST00000097342] [ENSMUST00000114033] [ENSMUST00000148431] [ENSMUST00000173093]
AlphaFold Q9Z150
Predicted Effect probably benign
Transcript: ENSMUST00000013931
SMART Domains Protein: ENSMUSP00000013931
Gene: ENSMUSG00000013787

DomainStartEndE-ValueType
low complexity region 2 47 N/A INTRINSIC
coiled coil region 336 385 N/A INTRINSIC
low complexity region 407 424 N/A INTRINSIC
low complexity region 604 627 N/A INTRINSIC
ANK 737 766 2.52e-6 SMART
ANK 770 799 1.19e-2 SMART
ANK 803 833 4.71e-6 SMART
ANK 837 866 2.9e-6 SMART
ANK 870 899 1e0 SMART
ANK 903 932 1.53e-5 SMART
PreSET 976 1075 2.44e-40 SMART
SET 1091 1214 4.08e-46 SMART
PostSET 1217 1233 2.84e-1 SMART
low complexity region 1245 1260 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000052778
AA Change: A354E

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000057515
Gene: ENSMUSG00000049823
AA Change: A354E

DomainStartEndE-ValueType
BTB 33 127 1.5e-19 SMART
low complexity region 138 149 N/A INTRINSIC
low complexity region 153 179 N/A INTRINSIC
low complexity region 186 204 N/A INTRINSIC
low complexity region 227 241 N/A INTRINSIC
low complexity region 297 327 N/A INTRINSIC
ZnF_C2H2 333 356 4.4e-2 SMART
ZnF_C2H2 359 381 2.27e-4 SMART
ZnF_C2H2 387 409 1.25e-1 SMART
ZnF_C2H2 415 438 4.54e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000078061
SMART Domains Protein: ENSMUSP00000077208
Gene: ENSMUSG00000013787

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
coiled coil region 279 328 N/A INTRINSIC
low complexity region 350 367 N/A INTRINSIC
low complexity region 513 536 N/A INTRINSIC
ANK 646 675 2.52e-6 SMART
ANK 679 708 1.19e-2 SMART
ANK 712 742 4.71e-6 SMART
ANK 746 775 2.9e-6 SMART
ANK 779 808 1e0 SMART
ANK 812 841 1.53e-5 SMART
PreSET 885 984 2.44e-40 SMART
SET 1000 1123 4.08e-46 SMART
PostSET 1126 1142 2.84e-1 SMART
low complexity region 1154 1169 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097342
SMART Domains Protein: ENSMUSP00000094955
Gene: ENSMUSG00000013787

DomainStartEndE-ValueType
low complexity region 2 47 N/A INTRINSIC
coiled coil region 336 385 N/A INTRINSIC
low complexity region 407 424 N/A INTRINSIC
low complexity region 570 593 N/A INTRINSIC
ANK 703 732 2.52e-6 SMART
ANK 736 765 1.19e-2 SMART
ANK 769 799 4.71e-6 SMART
ANK 803 832 2.9e-6 SMART
ANK 836 865 1e0 SMART
ANK 869 898 1.53e-5 SMART
PreSET 942 1041 2.44e-40 SMART
SET 1057 1180 4.08e-46 SMART
PostSET 1183 1199 2.84e-1 SMART
low complexity region 1211 1226 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114033
SMART Domains Protein: ENSMUSP00000109667
Gene: ENSMUSG00000013787

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
coiled coil region 279 328 N/A INTRINSIC
low complexity region 350 367 N/A INTRINSIC
low complexity region 547 570 N/A INTRINSIC
ANK 680 709 2.52e-6 SMART
ANK 713 742 1.19e-2 SMART
ANK 746 776 4.71e-6 SMART
ANK 780 809 2.9e-6 SMART
ANK 813 842 1e0 SMART
ANK 846 875 1.53e-5 SMART
PreSET 919 1018 2.44e-40 SMART
SET 1034 1157 4.08e-46 SMART
PostSET 1160 1176 2.84e-1 SMART
low complexity region 1188 1203 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174880
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174279
Predicted Effect probably benign
Transcript: ENSMUST00000148431
SMART Domains Protein: ENSMUSP00000120009
Gene: ENSMUSG00000024371

DomainStartEndE-ValueType
VWA 33 187 2.33e0 SMART
Tryp_SPc 191 470 4.43e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173093
SMART Domains Protein: ENSMUSP00000133903
Gene: ENSMUSG00000049823

DomainStartEndE-ValueType
Pfam:BTB 23 68 2e-13 PFAM
Meta Mutation Damage Score 0.1822 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 7 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik C T 4: 148,026,233 (GRCm39) S251F probably benign Het
Akap8l C G 17: 32,555,713 (GRCm39) probably null Het
Ccar2 G T 14: 70,388,738 (GRCm39) L158I probably damaging Het
Megf11 C A 9: 64,597,351 (GRCm39) C674* probably null Het
Or2n1d A G 17: 38,646,050 (GRCm39) M1V probably null Het
Psme4 A G 11: 30,801,210 (GRCm39) E1455G probably benign Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Other mutations in Zbtb12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02290:Zbtb12 APN 17 35,114,448 (GRCm39) missense probably damaging 0.98
R0445:Zbtb12 UTSW 17 35,115,277 (GRCm39) missense possibly damaging 0.83
R1027:Zbtb12 UTSW 17 35,115,284 (GRCm39) frame shift probably null
R1673:Zbtb12 UTSW 17 35,115,286 (GRCm39) frame shift probably null
R1673:Zbtb12 UTSW 17 35,115,284 (GRCm39) frame shift probably null
R2368:Zbtb12 UTSW 17 35,114,674 (GRCm39) missense possibly damaging 0.96
R2880:Zbtb12 UTSW 17 35,114,455 (GRCm39) missense probably damaging 0.99
R3908:Zbtb12 UTSW 17 35,115,244 (GRCm39) splice site probably null
R4705:Zbtb12 UTSW 17 35,115,377 (GRCm39) missense possibly damaging 0.93
R4707:Zbtb12 UTSW 17 35,114,475 (GRCm39) missense probably damaging 0.97
R4837:Zbtb12 UTSW 17 35,114,985 (GRCm39) missense probably benign
R5665:Zbtb12 UTSW 17 35,114,859 (GRCm39) missense possibly damaging 0.93
R9090:Zbtb12 UTSW 17 35,114,320 (GRCm39) missense possibly damaging 0.92
R9271:Zbtb12 UTSW 17 35,114,320 (GRCm39) missense possibly damaging 0.92
R9458:Zbtb12 UTSW 17 35,115,367 (GRCm39) missense possibly damaging 0.85
V5622:Zbtb12 UTSW 17 35,115,277 (GRCm39) missense possibly damaging 0.83
V5622:Zbtb12 UTSW 17 35,115,277 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- TAGAAGTGGCACACCGGCTCAAAC -3'
(R):5'- GGACATTGATCTCAGCCACACCAG -3'

Sequencing Primer
(F):5'- CATGCTACAGCCTGTCAGAG -3'
(R):5'- CTTGAGGTGCCGCCTAATG -3'
Posted On 2013-05-31