Incidental Mutation 'IGL01951:Zbtb6'
ID181038
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb6
Ensembl Gene ENSMUSG00000066798
Gene Namezinc finger and BTB domain containing 6
SynonymsA830092L04Rik, Zfp482
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.244) question?
Stock #IGL01951
Quality Score
Status
Chromosome2
Chromosomal Location37425500-37443171 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 37429331 bp
ZygosityHeterozygous
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]
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: 103,235,668 I152T probably damaging Het
A2m C T 6: 121,667,190 T949I possibly damaging Het
Begain T A 12: 109,033,645 Y605F probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cavin2 A G 1: 51,289,411 E9G possibly damaging Het
Cdh16 A G 8: 104,617,691 V72A probably damaging Het
Dgkd T C 1: 87,916,916 L268P probably damaging Het
Eps8 T A 6: 137,537,671 Y28F possibly damaging Het
Erap1 T C 13: 74,675,295 I816T probably damaging Het
Fli1 A T 9: 32,461,364 F126Y probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21957 A T 7: 125,219,832 noncoding transcript Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Gm9833 G A 3: 10,089,058 V296M probably damaging Het
Hectd1 T A 12: 51,794,497 R618* probably null Het
Homez T C 14: 54,858,176 E25G probably damaging Het
Ifngr1 C A 10: 19,609,454 N400K possibly damaging Het
Lin7a G A 10: 107,412,025 V186I possibly damaging Het
Lpcat2 G T 8: 92,918,047 S448I probably damaging Het
Lrp10 C A 14: 54,468,662 Y436* probably null Het
Myo1f A G 17: 33,598,017 H707R possibly damaging Het
Neurl4 A G 11: 69,909,623 N1147D probably damaging Het
Olfr1272 G T 2: 90,282,007 D189E probably damaging Het
Olfr1414 T C 1: 92,511,131 D299G probably null Het
Pak6 T C 2: 118,693,260 S299P probably benign Het
Panx2 A G 15: 89,068,767 D487G probably damaging Het
Sbspon T C 1: 15,858,934 N211S probably benign Het
Sgsm1 T A 5: 113,286,767 probably benign Het
Slc38a4 T C 15: 97,019,763 Y27C probably benign Het
Sorbs1 A G 19: 40,318,016 probably benign Het
Ssh1 A T 5: 113,966,247 Y35N possibly damaging Het
Stx2 A T 5: 128,992,265 F127L probably damaging Het
Synm A T 7: 67,739,137 I325N probably damaging Het
Szt2 A G 4: 118,376,493 probably benign Het
Tbc1d23 A G 16: 57,186,685 probably benign Het
Tmem50a T C 4: 134,898,428 probably benign Het
Tpx2 T G 2: 152,884,176 L354V probably benign Het
Trafd1 G A 5: 121,374,031 R399C possibly damaging Het
Trem3 C T 17: 48,249,875 R125W probably damaging Het
Ubp1 T A 9: 113,951,618 Y92* probably null Het
Wnk1 T A 6: 119,963,485 T62S probably damaging Het
Zc3h15 A G 2: 83,661,485 D306G probably damaging Het
Other mutations in Zbtb6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02981:Zbtb6 APN 2 37429164 nonsense probably null
IGL03390:Zbtb6 APN 2 37429572 missense probably damaging 1.00
R0164:Zbtb6 UTSW 2 37429588 nonsense probably null
R0164:Zbtb6 UTSW 2 37429588 nonsense probably null
R0470:Zbtb6 UTSW 2 37429493 missense probably damaging 0.99
R1472:Zbtb6 UTSW 2 37429344 missense probably benign
R1606:Zbtb6 UTSW 2 37429118 missense probably benign 0.00
R1824:Zbtb6 UTSW 2 37429817 missense probably damaging 1.00
R4594:Zbtb6 UTSW 2 37429042 missense possibly damaging 0.71
R4838:Zbtb6 UTSW 2 37428716 nonsense probably null
R5000:Zbtb6 UTSW 2 37429239 missense probably benign
R5816:Zbtb6 UTSW 2 37429215 missense probably benign 0.01
R6005:Zbtb6 UTSW 2 37428965 missense probably damaging 1.00
R6152:Zbtb6 UTSW 2 37429243 missense probably benign 0.18
R6390:Zbtb6 UTSW 2 37428678 missense probably benign 0.01
R7657:Zbtb6 UTSW 2 37429075 missense probably benign
R7866:Zbtb6 UTSW 2 37429565 missense probably damaging 1.00
R8310:Zbtb6 UTSW 2 37429884 missense probably benign 0.00
Posted On2014-05-07