Incidental Mutation 'IGL01958:Zbtb45'
ID181464
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb45
Ensembl Gene ENSMUSG00000049600
Gene Namezinc finger and BTB domain containing 45
SynonymsLOC232879, Zfp499
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.247) question?
Stock #IGL01958
Quality Score
Status
Chromosome7
Chromosomal Location13003898-13010034 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 13006276 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 471 (A471S)
Ref Sequence ENSEMBL: ENSMUSP00000147298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051390] [ENSMUST00000172240] [ENSMUST00000209997] [ENSMUST00000210108] [ENSMUST00000210282]
Predicted Effect probably benign
Transcript: ENSMUST00000051390
AA Change: A471S

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000056086
Gene: ENSMUSG00000049600
AA Change: A471S

DomainStartEndE-ValueType
BTB 33 126 6.43e-19 SMART
low complexity region 131 162 N/A INTRINSIC
low complexity region 173 187 N/A INTRINSIC
low complexity region 202 234 N/A INTRINSIC
low complexity region 340 362 N/A INTRINSIC
low complexity region 380 393 N/A INTRINSIC
ZnF_C2H2 412 434 1.12e-3 SMART
ZnF_C2H2 440 462 2.71e-2 SMART
ZnF_C2H2 468 490 1.84e-4 SMART
ZnF_C2H2 495 517 2.71e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172240
AA Change: A471S

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000130439
Gene: ENSMUSG00000049600
AA Change: A471S

DomainStartEndE-ValueType
BTB 33 126 6.43e-19 SMART
low complexity region 131 162 N/A INTRINSIC
low complexity region 173 187 N/A INTRINSIC
low complexity region 202 234 N/A INTRINSIC
low complexity region 340 362 N/A INTRINSIC
low complexity region 380 393 N/A INTRINSIC
ZnF_C2H2 412 434 1.12e-3 SMART
ZnF_C2H2 440 462 2.71e-2 SMART
ZnF_C2H2 468 490 1.84e-4 SMART
ZnF_C2H2 495 517 2.71e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209577
Predicted Effect probably benign
Transcript: ENSMUST00000209997
Predicted Effect probably benign
Transcript: ENSMUST00000210108
Predicted Effect probably benign
Transcript: ENSMUST00000210282
AA Change: A471S

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik T C 10: 95,793,797 I29T probably damaging Het
5830411N06Rik T C 7: 140,274,127 C348R probably damaging Het
Agps G A 2: 75,909,701 probably null Het
Agxt2 A G 15: 10,393,708 probably null Het
Ahnak T C 19: 9,014,909 V4519A possibly damaging Het
Aktip T C 8: 91,126,225 D159G probably damaging Het
Ankrd44 T C 1: 54,766,966 I94V probably damaging Het
Asph T C 4: 9,474,904 E674G possibly damaging Het
Atat1 T A 17: 35,908,843 probably benign Het
Ccar1 G A 10: 62,790,935 A20V possibly damaging Het
Cdc26 T C 4: 62,402,764 D14G probably damaging Het
Cdh15 T C 8: 122,859,350 F156S probably damaging Het
Dctn1 A G 6: 83,191,344 T525A possibly damaging Het
Dnah8 T G 17: 30,855,895 probably benign Het
Dnajc10 T A 2: 80,321,304 probably benign Het
Dtl C A 1: 191,568,377 W125L probably damaging Het
Fam3c G A 6: 22,318,955 T149I probably damaging Het
Fgd6 A G 10: 94,138,308 T1304A probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm6578 A G 6: 12,099,767 noncoding transcript Het
Gnai1 A G 5: 18,273,570 F199S probably damaging Het
Grb7 T A 11: 98,454,654 V480D probably damaging Het
Hdc A G 2: 126,594,532 L473P possibly damaging Het
Hmcn1 T C 1: 150,603,871 N4614S probably benign Het
Il20ra A G 10: 19,759,043 D344G probably benign Het
Ints1 C T 5: 139,760,088 R1342Q possibly damaging Het
Itga9 T A 9: 118,636,494 probably benign Het
Kat14 T C 2: 144,394,365 L339P probably damaging Het
Klhl22 A G 16: 17,776,462 I152V probably benign Het
Krtap5-2 C A 7: 142,175,722 G74* probably null Het
Lrrc59 C A 11: 94,638,528 probably null Het
Map3k13 A G 16: 21,892,123 Q52R probably benign Het
Mb21d2 A G 16: 28,827,743 probably benign Het
Mphosph9 A T 5: 124,324,990 probably benign Het
Myrf A G 19: 10,210,378 probably benign Het
Nek11 T C 9: 105,300,303 T250A probably benign Het
Nek5 A T 8: 22,096,826 V323E probably benign Het
Nfasc A T 1: 132,608,438 C586* probably null Het
Nup210l T A 3: 90,203,924 L1711Q possibly damaging Het
Parp8 T G 13: 116,876,572 K644Q probably benign Het
Pcnt G T 10: 76,433,679 Q252K probably damaging Het
Pianp A G 6: 125,000,683 T181A possibly damaging Het
Pkd1 T C 17: 24,580,324 V2839A probably damaging Het
Poli C T 18: 70,526,586 R58H possibly damaging Het
Ptk7 T C 17: 46,579,427 D447G probably benign Het
Rapgef5 A G 12: 117,730,651 I637V probably benign Het
Rasip1 A T 7: 45,636,764 R804* probably null Het
Relt A G 7: 100,851,143 V113A probably benign Het
Rnf215 G T 11: 4,140,317 C345F probably damaging Het
Scn2a A G 2: 65,701,829 D595G probably damaging Het
Serpina3k G A 12: 104,341,057 V183M probably damaging Het
Snapc4 T C 2: 26,366,440 probably benign Het
Sparcl1 A T 5: 104,092,540 D339E probably benign Het
Tg T C 15: 66,759,486 F535L probably benign Het
Zfp106 T A 2: 120,534,807 K373M probably benign Het
Other mutations in Zbtb45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02588:Zbtb45 APN 7 13006277 nonsense probably null
R0268:Zbtb45 UTSW 7 13008327 start codon destroyed probably null 0.60
R0539:Zbtb45 UTSW 7 13006333 missense probably damaging 1.00
R4908:Zbtb45 UTSW 7 13008110 missense probably damaging 1.00
R5875:Zbtb45 UTSW 7 13008310 missense possibly damaging 0.96
R7137:Zbtb45 UTSW 7 13007156 missense probably benign
R7516:Zbtb45 UTSW 7 13006342 missense probably damaging 1.00
R7612:Zbtb45 UTSW 7 13007399 missense possibly damaging 0.62
Z1177:Zbtb45 UTSW 7 13008101 missense possibly damaging 0.90
Posted On2014-05-07