Incidental Mutation 'R1673:Zbtb12'
ID 187863
Institutional Source Beutler Lab
Gene Symbol Zbtb12
Ensembl Gene ENSMUSG00000049823
Gene Name zinc finger and BTB domain containing 12
Synonyms Bat-9, Bat9
MMRRC Submission 039709-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R1673 (G1)
Quality Score 217
Status Not validated
Chromosome 17
Chromosomal Location 34879483-34896867 bp(+) (GRCm38)
Type of Mutation frame shift
DNA Base Change (assembly) TCATC to TCATCCATC at 34896310 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
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 probably null
Transcript: ENSMUST00000052778
SMART Domains Protein: ENSMUSP00000057515
Gene: ENSMUSG00000049823

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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174279
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174880
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,212,339 (GRCm38) S809G probably benign Het
Ap4b1 T A 3: 103,817,845 (GRCm38) probably null Het
Aqp12 A G 1: 93,006,884 (GRCm38) Q161R possibly damaging Het
Atp8a2 A G 14: 59,791,240 (GRCm38) I926T probably benign Het
Cacna2d1 A T 5: 16,299,990 (GRCm38) N314I probably damaging Het
Cd209d A G 8: 3,877,113 (GRCm38) S81P probably damaging Het
Cdcp1 T A 9: 123,178,021 (GRCm38) K554* probably null Het
Celsr1 A G 15: 85,932,457 (GRCm38) Y1762H probably benign Het
Cklf A G 8: 104,257,351 (GRCm38) T49A possibly damaging Het
Col12a1 T G 9: 79,693,538 (GRCm38) I755L probably benign Het
Cts3 G A 13: 61,567,554 (GRCm38) Q140* probably null Het
Ddx1 A T 12: 13,244,966 (GRCm38) probably null Het
Dnah3 C A 7: 119,971,179 (GRCm38) E2262* probably null Het
Dnah5 A G 15: 28,290,148 (GRCm38) N1228S probably benign Het
Dsg1a G A 18: 20,331,504 (GRCm38) R352Q probably damaging Het
Efcab5 A G 11: 77,151,853 (GRCm38) F25L probably damaging Het
Efhd1 T A 1: 87,264,682 (GRCm38) V78D probably damaging Het
Eif5a2 T C 3: 28,793,818 (GRCm38) probably null Het
Elp2 T A 18: 24,611,926 (GRCm38) V101D possibly damaging Het
Enpp2 A T 15: 54,910,196 (GRCm38) probably null Het
F5 A G 1: 164,179,520 (GRCm38) T298A probably damaging Het
Fam208b A G 13: 3,584,498 (GRCm38) probably null Het
Fbxo21 G T 5: 118,008,064 (GRCm38) R584L probably benign Het
Fbxw22 G T 9: 109,382,128 (GRCm38) F368L possibly damaging Het
Gcn1l1 T C 5: 115,582,297 (GRCm38) I409T probably benign Het
Gm10260 A T 13: 97,760,360 (GRCm38) Y77N possibly damaging Het
Gm12887 T C 4: 121,616,458 (GRCm38) Y65C probably damaging Het
Gria4 G A 9: 4,537,637 (GRCm38) Q224* probably null Het
Hdac5 C T 11: 102,198,805 (GRCm38) V860M probably damaging Het
Ino80 G A 2: 119,381,936 (GRCm38) R1302C probably damaging Het
Kcns2 A T 15: 34,838,820 (GRCm38) I110F probably damaging Het
Lrig3 A G 10: 126,010,167 (GRCm38) T822A probably damaging Het
Mapk6 T C 9: 75,395,569 (GRCm38) D214G probably damaging Het
Mcm2 A T 6: 88,892,078 (GRCm38) L264Q probably benign Het
Mpnd A T 17: 56,010,455 (GRCm38) Y64F probably damaging Het
Muc1 T A 3: 89,231,772 (GRCm38) M520K possibly damaging Het
Muc4 T A 16: 32,756,902 (GRCm38) S189T probably benign Het
Myh13 T C 11: 67,352,119 (GRCm38) S953P possibly damaging Het
Ncf2 A T 1: 152,830,479 (GRCm38) M281L probably benign Het
Nipal2 A G 15: 34,648,695 (GRCm38) I116T probably damaging Het
Nptn T C 9: 58,623,732 (GRCm38) L46P probably benign Het
Olfr11 A T 13: 21,639,044 (GRCm38) S160T probably damaging Het
Olfr1283 A G 2: 111,369,207 (GRCm38) T192A probably benign Het
Olfr290 T A 7: 84,916,117 (GRCm38) F113I probably damaging Het
Olfr610 C A 7: 103,506,689 (GRCm38) V86F probably damaging Het
Pgr A T 9: 8,902,068 (GRCm38) Y534F possibly damaging Het
Pip4k2a A T 2: 18,872,282 (GRCm38) probably null Het
Pkd1l2 C G 8: 117,040,775 (GRCm38) V1259L probably benign Het
Ppp1r12a A G 10: 108,249,565 (GRCm38) E457G probably damaging Het
Rasa4 T A 5: 136,104,637 (GRCm38) V650D probably benign Het
Rem2 C T 14: 54,476,309 (GRCm38) probably benign Het
Sdc1 G A 12: 8,790,409 (GRCm38) R62Q possibly damaging Het
Sdk1 A G 5: 141,948,506 (GRCm38) E366G possibly damaging Het
Setd2 T A 9: 110,604,180 (GRCm38) H2406Q probably damaging Het
Slc30a5 A G 13: 100,813,383 (GRCm38) V397A probably benign Het
Slc36a2 A T 11: 55,184,913 (GRCm38) L16H possibly damaging Het
Slc44a1 T C 4: 53,542,468 (GRCm38) V334A probably benign Het
Sox8 A T 17: 25,567,482 (GRCm38) Y416N possibly damaging Het
Speg T C 1: 75,411,163 (GRCm38) V1416A possibly damaging Het
Stk24 T A 14: 121,337,571 (GRCm38) I42F probably damaging Het
Tcerg1 T A 18: 42,552,581 (GRCm38) L661Q possibly damaging Het
Tmem110 T C 14: 30,864,434 (GRCm38) L72S possibly damaging Het
Tpp1 G A 7: 105,747,673 (GRCm38) R417W probably damaging Het
Trim12a T A 7: 104,306,057 (GRCm38) D153V possibly damaging Het
Trpm2 T C 10: 77,942,944 (GRCm38) N396S probably benign Het
Ttn T C 2: 76,807,083 (GRCm38) K5695R probably damaging Het
Ttn G A 2: 76,810,287 (GRCm38) R11960C probably damaging Het
Tulp3 A C 6: 128,333,943 (GRCm38) probably null Het
Uaca T A 9: 60,872,156 (GRCm38) L1273H probably damaging Het
Usp33 A G 3: 152,368,282 (GRCm38) E255G probably damaging Het
Vmn2r54 T G 7: 12,616,211 (GRCm38) probably null Het
Vwa8 C T 14: 78,908,230 (GRCm38) R116C probably damaging Het
Wnt5b A T 6: 119,446,354 (GRCm38) F116L probably benign Het
Zfp408 G A 2: 91,646,008 (GRCm38) T367I probably damaging Het
Zfp512b G A 2: 181,588,493 (GRCm38) A480V possibly damaging Het
Zfp560 T C 9: 20,347,653 (GRCm38) T638A probably benign Het
Zfp932 G T 5: 110,008,988 (GRCm38) G151V probably damaging Het
Zpbp T C 11: 11,352,696 (GRCm38) K320E probably damaging Het
Zranb2 C T 3: 157,537,640 (GRCm38) P91L probably damaging Het
Other mutations in Zbtb12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02290:Zbtb12 APN 17 34,895,472 (GRCm38) missense probably damaging 0.98
R0445:Zbtb12 UTSW 17 34,896,301 (GRCm38) missense possibly damaging 0.83
R1027:Zbtb12 UTSW 17 34,896,308 (GRCm38) frame shift probably null
R1673:Zbtb12 UTSW 17 34,896,308 (GRCm38) frame shift probably null
R2368:Zbtb12 UTSW 17 34,895,698 (GRCm38) missense possibly damaging 0.96
R2880:Zbtb12 UTSW 17 34,895,479 (GRCm38) missense probably damaging 0.99
R3908:Zbtb12 UTSW 17 34,896,268 (GRCm38) splice site probably null
R4705:Zbtb12 UTSW 17 34,896,401 (GRCm38) missense possibly damaging 0.93
R4707:Zbtb12 UTSW 17 34,895,499 (GRCm38) missense probably damaging 0.97
R4837:Zbtb12 UTSW 17 34,896,009 (GRCm38) missense probably benign
R5665:Zbtb12 UTSW 17 34,895,883 (GRCm38) missense possibly damaging 0.93
R9090:Zbtb12 UTSW 17 34,895,344 (GRCm38) missense possibly damaging 0.92
R9271:Zbtb12 UTSW 17 34,895,344 (GRCm38) missense possibly damaging 0.92
R9458:Zbtb12 UTSW 17 34,896,391 (GRCm38) missense possibly damaging 0.85
V5088:Zbtb12 UTSW 17 34,896,301 (GRCm38) missense possibly damaging 0.83
V5622:Zbtb12 UTSW 17 34,896,301 (GRCm38) missense possibly damaging 0.83
V5622:Zbtb12 UTSW 17 34,896,301 (GRCm38) 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 2014-05-09