Incidental Mutation 'R7137:Zbtb45'
ID553126
Institutional Source Beutler Lab
Gene Symbol Zbtb45
Ensembl Gene ENSMUSG00000049600
Gene Namezinc finger and BTB domain containing 45
SynonymsLOC232879, Zfp499
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.189) question?
Stock #R7137 (G1)
Quality Score225.009
Status Not validated
Chromosome7
Chromosomal Location13003898-13010034 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 13007156 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 392 (T392A)
Ref Sequence ENSEMBL: ENSMUSP00000056086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051390] [ENSMUST00000172240] [ENSMUST00000209997] [ENSMUST00000210108] [ENSMUST00000210282]
Predicted Effect probably benign
Transcript: ENSMUST00000051390
AA Change: T392A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000056086
Gene: ENSMUSG00000049600
AA Change: T392A

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: T392A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130439
Gene: ENSMUSG00000049600
AA Change: T392A

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: ENSMUST00000209997
Predicted Effect probably benign
Transcript: ENSMUST00000210108
Predicted Effect probably benign
Transcript: ENSMUST00000210282
AA Change: T392A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,677,985 S1423P possibly damaging Het
Acvr1c A G 2: 58,283,387 probably null Het
Adgrf5 A G 17: 43,450,897 K1161R probably damaging Het
Arhgap32 T G 9: 32,151,936 D80E probably benign Het
Aspg T C 12: 112,112,198 V30A possibly damaging Het
Bcl2a1d T C 9: 88,731,478 D81G probably damaging Het
Cep170b T C 12: 112,735,167 V160A probably benign Het
Ces1c T C 8: 93,130,842 Y37C probably benign Het
Cntnap5a T C 1: 116,089,376 L233P probably damaging Het
Crem C A 18: 3,273,459 A245S possibly damaging Het
Cyp2d12 C T 15: 82,557,821 A280V probably benign Het
Dnah2 C T 11: 69,491,555 G1243D probably damaging Het
Emcn T G 3: 137,403,991 N131K probably damaging Het
Fat3 A T 9: 15,997,148 D2519E probably damaging Het
Fibin T A 2: 110,362,656 D47V probably damaging Het
Fsd1 G A 17: 55,993,876 R245H probably damaging Het
Gimap8 C A 6: 48,650,253 L54I probably damaging Het
Gm20481 A G 17: 34,970,095 Y27C unknown Het
Gm21319 A T 12: 87,773,546 L81Q possibly damaging Het
Grin1 T G 2: 25,313,538 M154L probably benign Het
Ighv8-13 A G 12: 115,765,577 L20P probably damaging Het
Insc G A 7: 114,811,615 V236I probably benign Het
Lrrk1 A G 7: 66,285,279 F1031L probably benign Het
Man2a2 C A 7: 80,359,751 R785L probably benign Het
Mcur1 C A 13: 43,544,455 probably null Het
Med12l A C 3: 59,258,254 R1464S probably damaging Het
Mycbp2 A T 14: 103,282,679 M767K possibly damaging Het
Naalad2 T C 9: 18,323,487 I762V probably benign Het
Nfkbid A G 7: 30,426,256 T357A possibly damaging Het
Pcdh17 A G 14: 84,533,549 R1156G possibly damaging Het
Pcdhb1 T C 18: 37,267,392 S799P possibly damaging Het
Pde3a A T 6: 141,498,746 E1093D probably benign Het
Plcg1 T C 2: 160,753,926 Y572H possibly damaging Het
Plxna4 A G 6: 32,517,264 L139P probably damaging Het
Psma1 A G 7: 114,274,448 Y6H probably damaging Het
Psmd2 A G 16: 20,652,627 E76G probably benign Het
Ptk2 G A 15: 73,221,809 P854S possibly damaging Het
Pyy T G 11: 102,107,273 D27A possibly damaging Het
Slc22a2 A G 17: 12,584,341 T21A probably benign Het
Slc25a2 T C 18: 37,638,147 I110V probably benign Het
Sult1c2 A C 17: 53,838,394 W85G probably damaging Het
Svs1 A G 6: 48,990,149 Y677C probably damaging Het
Syt12 C T 19: 4,453,950 D218N probably damaging Het
Tln1 C T 4: 43,540,616 V1462M probably damaging Het
Tor1aip2 T A 1: 156,051,976 N33K possibly damaging Het
Usp17lb C A 7: 104,841,591 W43L probably benign Het
Vmn1r76 A G 7: 11,930,685 Y201H possibly damaging Het
Wnk1 C A 6: 120,038,212 probably benign Het
Wrnip1 A G 13: 32,802,749 D171G probably benign Het
Zar1 T A 5: 72,580,816 N81I probably damaging Het
Zfp445 T C 9: 122,854,778 E272G probably damaging Het
Other mutations in Zbtb45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01958:Zbtb45 APN 7 13006276 missense probably benign 0.23
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
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
Predicted Primers PCR Primer
(F):5'- CAAACCGCCCGTGATTAAGG -3'
(R):5'- AACAGGTGTGAAGACCCCAG -3'

Sequencing Primer
(F):5'- GCCCGTGATTAAGGATCTCGTAAATC -3'
(R):5'- TGAAGACCCCAGGGCCC -3'
Posted On2019-05-15