Incidental Mutation 'IGL02016:Zbtb3'
ID183733
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb3
Ensembl Gene ENSMUSG00000071661
Gene Namezinc finger and BTB domain containing 3
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.375) question?
Stock #IGL02016
Quality Score
Status
Chromosome19
Chromosomal Location8802530-8804854 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 8803215 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 64 (V64E)
Ref Sequence ENSEMBL: ENSMUSP00000127746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096261] [ENSMUST00000172175]
Predicted Effect probably benign
Transcript: ENSMUST00000096261
SMART Domains Protein: ENSMUSP00000093980
Gene: ENSMUSG00000071662

DomainStartEndE-ValueType
Pfam:SHS2_Rpb7-N 8 77 1e-18 PFAM
S1 80 162 1.75e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172175
AA Change: V64E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127746
Gene: ENSMUSG00000071661
AA Change: V64E

DomainStartEndE-ValueType
low complexity region 7 20 N/A INTRINSIC
BTB 24 123 4.37e-21 SMART
low complexity region 207 225 N/A INTRINSIC
low complexity region 273 292 N/A INTRINSIC
low complexity region 386 406 N/A INTRINSIC
ZnF_C2H2 418 440 7.55e-1 SMART
ZnF_C2H2 446 469 3.11e-2 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik C A 2: 127,186,955 G108V probably damaging Het
4931406P16Rik A G 7: 34,239,101 M791T possibly damaging Het
A2ml1 T C 6: 128,558,335 E804G probably damaging Het
Abcg4 G A 9: 44,287,350 T35M probably damaging Het
Acad9 A T 3: 36,088,486 probably null Het
Adgrv1 T C 13: 81,397,453 D5571G probably damaging Het
App T A 16: 85,056,521 D223V unknown Het
Arhgap30 A G 1: 171,407,747 E563G probably damaging Het
Atp6v1e2 A T 17: 86,944,394 V192D probably damaging Het
Atr G A 9: 95,927,175 V1969I probably benign Het
Bean1 T C 8: 104,210,918 L43S possibly damaging Het
Cand1 A G 10: 119,212,568 V436A probably damaging Het
Card6 T C 15: 5,108,256 I39V probably damaging Het
Ccdc73 A G 2: 104,975,616 T300A probably benign Het
Ccdc88c T C 12: 100,941,207 T962A possibly damaging Het
Chd6 G T 2: 160,983,678 L1169I probably damaging Het
Chrna7 A T 7: 63,103,835 V312E probably damaging Het
Dna2 A G 10: 62,960,412 N540S probably benign Het
Elavl2 T C 4: 91,260,935 E209G probably damaging Het
Elmo2 A G 2: 165,295,012 probably null Het
Fto A T 8: 91,666,406 R494* probably null Het
Gm13088 T A 4: 143,655,319 E269V possibly damaging Het
Gm9966 A T 7: 95,958,807 T112S unknown Het
Gtf3c1 A C 7: 125,668,039 I940S probably damaging Het
Hecw2 C A 1: 53,831,543 Q1426H possibly damaging Het
Iars2 A C 1: 185,303,306 L579R probably damaging Het
Ifih1 A C 2: 62,606,984 M537R probably benign Het
Kcnmb4 A G 10: 116,446,462 probably benign Het
Large2 A G 2: 92,369,543 V175A possibly damaging Het
Mad2l1bp A G 17: 46,153,502 probably benign Het
Muc20 A T 16: 32,797,352 F14Y possibly damaging Het
Myom2 A G 8: 15,125,195 E1258G probably benign Het
Olfr1066 A T 2: 86,455,497 M258K probably damaging Het
Parp1 A T 1: 180,598,951 probably null Het
Prkra A T 2: 76,643,309 probably null Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Scd1 C T 19: 44,400,307 G235S probably benign Het
Sdk1 A G 5: 142,034,429 H654R possibly damaging Het
Sesn3 A G 9: 14,320,337 Y188C probably damaging Het
Slc26a4 T C 12: 31,535,667 M461V probably damaging Het
Slc28a2 A G 2: 122,455,341 I439V probably benign Het
Smc5 T A 19: 23,273,712 N36I probably benign Het
Smurf2 A G 11: 106,822,678 F745S probably damaging Het
Spata22 A G 11: 73,336,031 N65S possibly damaging Het
Tanc1 A G 2: 59,843,590 T1680A probably benign Het
Tnxb G A 17: 34,672,275 V531M probably damaging Het
Trpm3 T G 19: 22,902,069 Y727* probably null Het
Tssk1 A T 16: 17,894,894 Y181F probably damaging Het
Ucp3 T A 7: 100,480,559 V136E probably damaging Het
Uqcrfs1 A C 13: 30,545,114 V45G probably benign Het
Uvrag A G 7: 99,099,442 I101T probably benign Het
Vmn1r206 A T 13: 22,620,164 L291Q probably damaging Het
Wnk2 T A 13: 49,056,905 I1813F probably damaging Het
Zeb2 A G 2: 44,988,874 I1115T possibly damaging Het
Zfp280b C T 10: 76,039,111 L275F possibly damaging Het
Other mutations in Zbtb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Zbtb3 APN 19 8803665 missense possibly damaging 0.72
IGL01399:Zbtb3 APN 19 8803455 missense probably damaging 0.97
IGL01447:Zbtb3 APN 19 8804316 missense probably damaging 1.00
IGL02264:Zbtb3 APN 19 8803365 missense probably damaging 1.00
IGL02720:Zbtb3 APN 19 8804214 unclassified probably null
R0456:Zbtb3 UTSW 19 8803200 missense probably damaging 1.00
R0840:Zbtb3 UTSW 19 8803457 missense possibly damaging 0.50
R1496:Zbtb3 UTSW 19 8803350 missense probably damaging 1.00
R1509:Zbtb3 UTSW 19 8803407 missense probably damaging 1.00
R4110:Zbtb3 UTSW 19 8803020 start gained probably benign
R4902:Zbtb3 UTSW 19 8803967 missense probably benign 0.40
R6148:Zbtb3 UTSW 19 8804196 missense probably benign 0.15
R7121:Zbtb3 UTSW 19 8803407 missense probably damaging 1.00
Posted On2014-05-07