Incidental Mutation 'R1824:Zbtb6'
ID 206638
Institutional Source Beutler Lab
Gene Symbol Zbtb6
Ensembl Gene ENSMUSG00000066798
Gene Name zinc finger and BTB domain containing 6
Synonyms Zfp482, A830092L04Rik
MMRRC Submission 039852-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R1824 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 37315512-37320931 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37319829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 33 (C33Y)
Ref Sequence ENSEMBL: ENSMUSP00000108554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053098] [ENSMUST00000067043] [ENSMUST00000112932]
AlphaFold Q8K088
Predicted Effect probably damaging
Transcript: ENSMUST00000053098
AA Change: C33Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056100
Gene: ENSMUSG00000066798
AA Change: C33Y

DomainStartEndE-ValueType
BTB 33 127 2.67e-16 SMART
Blast:BTB 161 196 1e-5 BLAST
ZnF_C2H2 300 322 7.15e-2 SMART
ZnF_C2H2 325 347 1.58e-3 SMART
ZnF_C2H2 353 375 3.63e-3 SMART
ZnF_C2H2 381 404 8.81e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000067043
SMART Domains Protein: ENSMUSP00000070071
Gene: ENSMUSG00000050714

DomainStartEndE-ValueType
BTB 33 127 4.38e-12 SMART
low complexity region 169 179 N/A INTRINSIC
ZnF_C2H2 273 295 1.36e-2 SMART
ZnF_C2H2 298 320 1.4e-4 SMART
ZnF_C2H2 326 348 2.99e-4 SMART
ZnF_C2H2 354 377 2.09e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112932
AA Change: C33Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108554
Gene: ENSMUSG00000066798
AA Change: C33Y

DomainStartEndE-ValueType
BTB 33 127 2.67e-16 SMART
Blast:BTB 161 196 1e-5 BLAST
ZnF_C2H2 300 322 7.15e-2 SMART
ZnF_C2H2 325 347 1.58e-3 SMART
ZnF_C2H2 353 375 3.63e-3 SMART
ZnF_C2H2 381 404 8.81e-2 SMART
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik T C 10: 70,708,086 (GRCm39) noncoding transcript Het
Aadacl2fm1 C A 3: 59,840,001 (GRCm39) Y24* probably null Het
Abl1 T A 2: 31,690,656 (GRCm39) M706K probably benign Het
Abtb1 T C 6: 88,813,536 (GRCm39) T401A probably benign Het
Acd A G 8: 106,427,122 (GRCm39) L96P probably damaging Het
Arsi T A 18: 61,045,369 (GRCm39) W20R probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Asic3 C T 5: 24,618,749 (GRCm39) Q14* probably null Het
Asxl3 T A 18: 22,655,125 (GRCm39) I1045N probably damaging Het
Atr T C 9: 95,818,474 (GRCm39) I2149T probably damaging Het
Begain A G 12: 108,999,025 (GRCm39) probably null Het
Brca2 C T 5: 150,460,387 (GRCm39) T554I possibly damaging Het
Brd10 T C 19: 29,693,814 (GRCm39) N1960S probably damaging Het
C1s2 C T 6: 124,612,641 (GRCm39) V11I probably benign Het
Cacna1i T C 15: 80,260,990 (GRCm39) F1333L possibly damaging Het
Camsap2 T C 1: 136,201,521 (GRCm39) T662A possibly damaging Het
Cep164 C T 9: 45,690,226 (GRCm39) V1367M probably damaging Het
Cfap46 C A 7: 139,219,518 (GRCm39) A1316S probably benign Het
Cic T C 7: 24,987,691 (GRCm39) S553P probably damaging Het
Cilk1 T A 9: 78,065,144 (GRCm39) D351E probably benign Het
Clcn2 C T 16: 20,534,712 (GRCm39) A12T probably benign Het
Clip2 A G 5: 134,532,081 (GRCm39) Y540H probably benign Het
Coil A G 11: 88,872,923 (GRCm39) N428S possibly damaging Het
Cpxm1 A C 2: 130,237,617 (GRCm39) V196G probably damaging Het
Cr2 A G 1: 194,839,624 (GRCm39) V601A probably damaging Het
Cyp3a25 T A 5: 145,921,763 (GRCm39) K390N probably damaging Het
Dclre1a T C 19: 56,535,150 (GRCm39) probably null Het
Dennd4a G C 9: 64,766,640 (GRCm39) probably null Het
Dlg5 T C 14: 24,199,512 (GRCm39) H1464R probably benign Het
Dmac2 T G 7: 25,324,217 (GRCm39) M225R probably damaging Het
Dnah8 T C 17: 30,950,154 (GRCm39) V1991A possibly damaging Het
Dscam A C 16: 96,626,781 (GRCm39) V376G probably benign Het
Dync1li1 A G 9: 114,538,252 (GRCm39) D203G probably benign Het
Eva1c A G 16: 90,663,331 (GRCm39) T22A probably benign Het
Fam110b A G 4: 5,799,029 (GRCm39) D149G probably benign Het
Fras1 A T 5: 96,918,547 (GRCm39) I3528F probably damaging Het
Fsip1 T C 2: 118,063,389 (GRCm39) D360G probably damaging Het
Galnt14 T C 17: 74,016,934 (GRCm39) T41A probably benign Het
Gdf3 T A 6: 122,586,921 (GRCm39) Q2L probably benign Het
Glrp1 A G 1: 88,437,511 (GRCm39) probably null Het
Gm3336 C G 8: 71,173,066 (GRCm39) probably null Het
Gm8674 C T 13: 50,054,844 (GRCm39) noncoding transcript Het
Gnat1 A G 9: 107,553,774 (GRCm39) Y226H probably damaging Het
Grk5 T C 19: 61,078,410 (GRCm39) V489A probably damaging Het
H1f8 A G 6: 115,925,719 (GRCm39) Y1C probably null Het
Igfbpl1 C A 4: 45,826,406 (GRCm39) A130S probably benign Het
Impdh1 T A 6: 29,205,087 (GRCm39) D261V probably benign Het
Itgal T A 7: 126,913,232 (GRCm39) S610T probably damaging Het
Jcad A G 18: 4,649,293 (GRCm39) T55A probably benign Het
Jup G A 11: 100,264,963 (GRCm39) R663* probably null Het
Kalrn C T 16: 34,114,585 (GRCm39) G556D probably damaging Het
Krt81 T C 15: 101,358,020 (GRCm39) E411G probably damaging Het
Lcat T C 8: 106,666,520 (GRCm39) E334G probably damaging Het
Lhcgr T C 17: 89,057,585 (GRCm39) E302G probably benign Het
Magi1 A G 6: 93,676,620 (GRCm39) V913A possibly damaging Het
Mrpl19 A T 6: 81,941,060 (GRCm39) probably null Het
Muc4 G T 16: 32,576,307 (GRCm39) probably benign Het
Mycbp2 A G 14: 103,489,945 (GRCm39) V953A possibly damaging Het
Myo3a G A 2: 22,401,054 (GRCm39) V600I probably benign Het
Ndufv3 G A 17: 31,750,219 (GRCm39) R467Q probably damaging Het
Ngef A G 1: 87,430,986 (GRCm39) probably null Het
Nisch A T 14: 30,898,389 (GRCm39) probably benign Het
Nlrp4c G A 7: 6,069,955 (GRCm39) probably null Het
Nup153 A T 13: 46,867,223 (GRCm39) S154T probably damaging Het
Obscn A G 11: 58,885,658 (GRCm39) probably benign Het
Or2t1 T A 14: 14,328,774 (GRCm38) L221Q probably damaging Het
Or4a74 G T 2: 89,439,693 (GRCm39) P251H probably damaging Het
Or6c219 T C 10: 129,781,206 (GRCm39) M242V possibly damaging Het
Otogl T C 10: 107,615,692 (GRCm39) N1869S probably benign Het
Phf24 G T 4: 42,934,661 (GRCm39) C136F probably damaging Het
Phldb2 A T 16: 45,646,374 (GRCm39) V65E probably benign Het
Pkhd1 C A 1: 20,417,681 (GRCm39) G2490V probably damaging Het
Prl8a8 A T 13: 27,692,433 (GRCm39) M186K probably damaging Het
Qars1 T C 9: 108,391,809 (GRCm39) V70A probably damaging Het
Rac1 C T 5: 143,502,980 (GRCm39) V14I probably benign Het
Rapgef5 T A 12: 117,652,419 (GRCm39) probably null Het
Slc16a12 G A 19: 34,648,278 (GRCm39) T405M possibly damaging Het
Slc17a6 A G 7: 51,311,294 (GRCm39) Y336C probably damaging Het
Slc30a9 T C 5: 67,505,395 (GRCm39) L441P probably damaging Het
Slc45a2 T C 15: 11,022,172 (GRCm39) S305P probably damaging Het
Sod3 G T 5: 52,525,504 (GRCm39) V68L probably benign Het
Sp1 T G 15: 102,339,438 (GRCm39) S773A possibly damaging Het
Spen C A 4: 141,200,096 (GRCm39) G2821C probably damaging Het
Tagap1 A G 17: 7,223,425 (GRCm39) S424P probably benign Het
Tbc1d22a T C 15: 86,119,770 (GRCm39) V22A possibly damaging Het
Tfec C T 6: 16,840,467 (GRCm39) probably null Het
Thsd7a A T 6: 12,409,041 (GRCm39) probably null Het
Tnfsf15 C A 4: 63,651,588 (GRCm39) G112V probably benign Het
Tnfsf9 A G 17: 57,412,738 (GRCm39) T103A probably benign Het
Tnxb C T 17: 34,911,307 (GRCm39) R1537* probably null Het
Tpra1 A G 6: 88,888,805 (GRCm39) N329S probably benign Het
Ttc12 A G 9: 49,368,184 (GRCm39) F281S probably damaging Het
Unc79 A G 12: 103,025,579 (GRCm39) N322S probably damaging Het
Unk G T 11: 115,921,268 (GRCm39) probably benign Het
Usp4 G T 9: 108,225,207 (GRCm39) G31W probably damaging Het
Vcan G T 13: 89,853,331 (GRCm39) A543D possibly damaging Het
Vil1 A C 1: 74,457,606 (GRCm39) I80L probably benign Het
Vmn2r27 C T 6: 124,208,593 (GRCm39) G51S probably benign Het
Vpreb1a A G 16: 16,686,935 (GRCm39) probably null Het
Zfp330 A T 8: 83,492,644 (GRCm39) C189* probably null Het
Zfp942 T A 17: 22,147,522 (GRCm39) H369L probably damaging Het
Zfp943 T A 17: 22,211,361 (GRCm39) I149K probably benign Het
Zfyve19 G A 2: 119,042,016 (GRCm39) V162M probably benign Het
Other mutations in Zbtb6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01951:Zbtb6 APN 2 37,319,343 (GRCm39) missense probably benign 0.38
IGL02981:Zbtb6 APN 2 37,319,176 (GRCm39) nonsense probably null
IGL03390:Zbtb6 APN 2 37,319,584 (GRCm39) missense probably damaging 1.00
R0164:Zbtb6 UTSW 2 37,319,600 (GRCm39) nonsense probably null
R0164:Zbtb6 UTSW 2 37,319,600 (GRCm39) nonsense probably null
R0470:Zbtb6 UTSW 2 37,319,505 (GRCm39) missense probably damaging 0.99
R1472:Zbtb6 UTSW 2 37,319,356 (GRCm39) missense probably benign
R1606:Zbtb6 UTSW 2 37,319,130 (GRCm39) missense probably benign 0.00
R4594:Zbtb6 UTSW 2 37,319,054 (GRCm39) missense possibly damaging 0.71
R4838:Zbtb6 UTSW 2 37,318,728 (GRCm39) nonsense probably null
R5000:Zbtb6 UTSW 2 37,319,251 (GRCm39) missense probably benign
R5816:Zbtb6 UTSW 2 37,319,227 (GRCm39) missense probably benign 0.01
R6005:Zbtb6 UTSW 2 37,318,977 (GRCm39) missense probably damaging 1.00
R6152:Zbtb6 UTSW 2 37,319,255 (GRCm39) missense probably benign 0.18
R6390:Zbtb6 UTSW 2 37,318,690 (GRCm39) missense probably benign 0.01
R7657:Zbtb6 UTSW 2 37,319,087 (GRCm39) missense probably benign
R7866:Zbtb6 UTSW 2 37,319,577 (GRCm39) missense probably damaging 1.00
R8310:Zbtb6 UTSW 2 37,319,896 (GRCm39) missense probably benign 0.00
R8969:Zbtb6 UTSW 2 37,318,677 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCCAGTATAGCAGGACAACAG -3'
(R):5'- CTCCTAGCACTCAAAGTTTGGG -3'

Sequencing Primer
(F):5'- GTATAGCAGGACAACAGCAACTTC -3'
(R):5'- GGGTCTCCATTATTCCCAATACATG -3'
Posted On 2014-06-23