Incidental Mutation 'R7137:Zbtb45'
ID 553126
Institutional Source Beutler Lab
Gene Symbol Zbtb45
Ensembl Gene ENSMUSG00000049600
Gene Name zinc finger and BTB domain containing 45
Synonyms Zfp499, LOC232879
MMRRC Submission 045248-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.299) question?
Stock # R7137 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 12737825-12743961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12741083 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q52KG4
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: 121,654,944 (GRCm39) S1423P possibly damaging Het
Acvr1c A G 2: 58,173,399 (GRCm39) probably null Het
Adgrf5 A G 17: 43,761,788 (GRCm39) K1161R probably damaging Het
Aoc1l3 A G 6: 48,967,083 (GRCm39) Y677C probably damaging Het
Arhgap32 T G 9: 32,063,232 (GRCm39) D80E probably benign Het
Aspg T C 12: 112,078,632 (GRCm39) V30A possibly damaging Het
Bcl2a1d T C 9: 88,613,531 (GRCm39) D81G probably damaging Het
Cep170b T C 12: 112,701,601 (GRCm39) V160A probably benign Het
Ces1c T C 8: 93,857,470 (GRCm39) Y37C probably benign Het
Cntnap5a T C 1: 116,017,106 (GRCm39) L233P probably damaging Het
Crem C A 18: 3,273,459 (GRCm39) A245S possibly damaging Het
Cyp2d12 C T 15: 82,442,022 (GRCm39) A280V probably benign Het
Dnah2 C T 11: 69,382,381 (GRCm39) G1243D probably damaging Het
Eif1ad19 A T 12: 87,740,316 (GRCm39) L81Q possibly damaging Het
Emcn T G 3: 137,109,752 (GRCm39) N131K probably damaging Het
Fat3 A T 9: 15,908,444 (GRCm39) D2519E probably damaging Het
Fibin T A 2: 110,193,001 (GRCm39) D47V probably damaging Het
Fsd1 G A 17: 56,300,876 (GRCm39) R245H probably damaging Het
Gimap8 C A 6: 48,627,187 (GRCm39) L54I probably damaging Het
Gm20481 A G 17: 35,189,071 (GRCm39) Y27C unknown Het
Grin1 T G 2: 25,203,550 (GRCm39) M154L probably benign Het
Ighv8-13 A G 12: 115,729,197 (GRCm39) L20P probably damaging Het
Insc G A 7: 114,410,850 (GRCm39) V236I probably benign Het
Lrrk1 A G 7: 65,935,027 (GRCm39) F1031L probably benign Het
Man2a2 C A 7: 80,009,499 (GRCm39) R785L probably benign Het
Mcur1 C A 13: 43,697,931 (GRCm39) probably null Het
Med12l A C 3: 59,165,675 (GRCm39) R1464S probably damaging Het
Mycbp2 A T 14: 103,520,115 (GRCm39) M767K possibly damaging Het
Naalad2 T C 9: 18,234,783 (GRCm39) I762V probably benign Het
Nfkbid A G 7: 30,125,681 (GRCm39) T357A possibly damaging Het
Pcdh17 A G 14: 84,770,989 (GRCm39) R1156G possibly damaging Het
Pcdhb1 T C 18: 37,400,445 (GRCm39) S799P possibly damaging Het
Pde3a A T 6: 141,444,472 (GRCm39) E1093D probably benign Het
Plcg1 T C 2: 160,595,846 (GRCm39) Y572H possibly damaging Het
Plxna4 A G 6: 32,494,199 (GRCm39) L139P probably damaging Het
Psma1 A G 7: 113,873,683 (GRCm39) Y6H probably damaging Het
Psmd2 A G 16: 20,471,377 (GRCm39) E76G probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Pyy T G 11: 101,998,099 (GRCm39) D27A possibly damaging Het
Slc22a2 A G 17: 12,803,228 (GRCm39) T21A probably benign Het
Slc25a2 T C 18: 37,771,200 (GRCm39) I110V probably benign Het
Sult1c2 A C 17: 54,145,422 (GRCm39) W85G probably damaging Het
Syt12 C T 19: 4,503,978 (GRCm39) D218N probably damaging Het
Tln1 C T 4: 43,540,616 (GRCm39) V1462M probably damaging Het
Tor1aip2 T A 1: 155,927,722 (GRCm39) N33K possibly damaging Het
Usp17lb C A 7: 104,490,798 (GRCm39) W43L probably benign Het
Vmn1r76 A G 7: 11,664,612 (GRCm39) Y201H possibly damaging Het
Wnk1 C A 6: 120,015,173 (GRCm39) probably benign Het
Wrnip1 A G 13: 32,986,732 (GRCm39) D171G probably benign Het
Zar1 T A 5: 72,738,159 (GRCm39) N81I probably damaging Het
Zfp445 T C 9: 122,683,843 (GRCm39) E272G probably damaging Het
Other mutations in Zbtb45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01958:Zbtb45 APN 7 12,740,203 (GRCm39) missense probably benign 0.23
IGL02588:Zbtb45 APN 7 12,740,204 (GRCm39) nonsense probably null
R0268:Zbtb45 UTSW 7 12,742,254 (GRCm39) start codon destroyed probably null 0.60
R0539:Zbtb45 UTSW 7 12,740,260 (GRCm39) missense probably damaging 1.00
R4908:Zbtb45 UTSW 7 12,742,037 (GRCm39) missense probably damaging 1.00
R5875:Zbtb45 UTSW 7 12,742,237 (GRCm39) missense possibly damaging 0.96
R7516:Zbtb45 UTSW 7 12,740,269 (GRCm39) missense probably damaging 1.00
R7612:Zbtb45 UTSW 7 12,741,326 (GRCm39) missense possibly damaging 0.62
R9520:Zbtb45 UTSW 7 12,742,012 (GRCm39) missense probably damaging 0.99
Z1177:Zbtb45 UTSW 7 12,742,028 (GRCm39) 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 On 2019-05-15