Incidental Mutation 'IGL01951:Zbtb6'
ID 181038
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb6
Ensembl Gene ENSMUSG00000066798
Gene Name zinc finger and BTB domain containing 6
Synonyms Zfp482, A830092L04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # IGL01951
Quality Score
Status
Chromosome 2
Chromosomal Location 37315512-37320931 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37319343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 195 (E195G)
Ref Sequence ENSEMBL: ENSMUSP00000108554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053098] [ENSMUST00000067043] [ENSMUST00000112932]
AlphaFold Q8K088
Predicted Effect probably benign
Transcript: ENSMUST00000053098
AA Change: E195G

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000056100
Gene: ENSMUSG00000066798
AA Change: E195G

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 benign
Transcript: ENSMUST00000112932
AA Change: E195G

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108554
Gene: ENSMUSG00000066798
AA Change: E195G

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,092,865 (GRCm39) I152T probably damaging Het
A2m C T 6: 121,644,149 (GRCm39) T949I possibly damaging Het
Begain T A 12: 108,999,571 (GRCm39) Y605F probably benign Het
Cavin2 A G 1: 51,328,570 (GRCm39) E9G possibly damaging Het
Cdh16 A G 8: 105,344,323 (GRCm39) V72A probably damaging Het
Dgkd T C 1: 87,844,638 (GRCm39) L268P probably damaging Het
Eps8 T A 6: 137,514,669 (GRCm39) Y28F possibly damaging Het
Erap1 T C 13: 74,823,414 (GRCm39) I816T probably damaging Het
Fli1 A T 9: 32,372,660 (GRCm39) F126Y probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21957 A T 7: 124,819,004 (GRCm39) noncoding transcript Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Hectd1 T A 12: 51,841,280 (GRCm39) R618* probably null Het
Homez T C 14: 55,095,633 (GRCm39) E25G probably damaging Het
Ifngr1 C A 10: 19,485,202 (GRCm39) N400K possibly damaging Het
Lin7a G A 10: 107,247,886 (GRCm39) V186I possibly damaging Het
Lpcat2 G T 8: 93,644,675 (GRCm39) S448I probably damaging Het
Lrp10 C A 14: 54,706,119 (GRCm39) Y436* probably null Het
Myef2l G A 3: 10,154,118 (GRCm39) V296M probably damaging Het
Myo1f A G 17: 33,816,991 (GRCm39) H707R possibly damaging Het
Neurl4 A G 11: 69,800,449 (GRCm39) N1147D probably damaging Het
Or4b1b G T 2: 90,112,351 (GRCm39) D189E probably damaging Het
Or6b3 T C 1: 92,438,853 (GRCm39) D299G probably null Het
Pak6 T C 2: 118,523,741 (GRCm39) S299P probably benign Het
Panx2 A G 15: 88,952,970 (GRCm39) D487G probably damaging Het
Sbspon T C 1: 15,929,158 (GRCm39) N211S probably benign Het
Sgsm1 T A 5: 113,434,633 (GRCm39) probably benign Het
Slc38a4 T C 15: 96,917,644 (GRCm39) Y27C probably benign Het
Sorbs1 A G 19: 40,306,460 (GRCm39) probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Ssh1 A T 5: 114,104,308 (GRCm39) Y35N possibly damaging Het
Stx2 A T 5: 129,069,329 (GRCm39) F127L probably damaging Het
Synm A T 7: 67,388,885 (GRCm39) I325N probably damaging Het
Szt2 A G 4: 118,233,690 (GRCm39) probably benign Het
Tbc1d23 A G 16: 57,007,048 (GRCm39) probably benign Het
Tmem50a T C 4: 134,625,739 (GRCm39) probably benign Het
Tpx2 T G 2: 152,726,096 (GRCm39) L354V probably benign Het
Trafd1 G A 5: 121,512,094 (GRCm39) R399C possibly damaging Het
Trem3 C T 17: 48,556,903 (GRCm39) R125W probably damaging Het
Ubp1 T A 9: 113,780,686 (GRCm39) Y92* probably null Het
Wnk1 T A 6: 119,940,446 (GRCm39) T62S probably damaging Het
Zc3h15 A G 2: 83,491,829 (GRCm39) D306G probably damaging Het
Other mutations in Zbtb6
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1824:Zbtb6 UTSW 2 37,319,829 (GRCm39) missense probably damaging 1.00
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
Posted On 2014-05-07