Incidental Mutation 'R7612:Zbtb45'
ID 588664
Institutional Source Beutler Lab
Gene Symbol Zbtb45
Ensembl Gene ENSMUSG00000049600
Gene Name zinc finger and BTB domain containing 45
Synonyms Zfp499, LOC232879
MMRRC Submission 045680-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.299) question?
Stock # R7612 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 12737825-12743961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 12741326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 311 (A311T)
Ref Sequence ENSEMBL: ENSMUSP00000056086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051390] [ENSMUST00000172240] [ENSMUST00000209997] [ENSMUST00000210108] [ENSMUST00000210282]
AlphaFold Q52KG4
Predicted Effect possibly damaging
Transcript: ENSMUST00000051390
AA Change: A311T

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000056086
Gene: ENSMUSG00000049600
AA Change: A311T

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 possibly damaging
Transcript: ENSMUST00000172240
AA Change: A311T

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000130439
Gene: ENSMUSG00000049600
AA Change: A311T

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 possibly damaging
Transcript: ENSMUST00000210282
AA Change: A311T

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057N15Rik A T 16: 88,570,496 (GRCm39) Y181* probably null Het
Adgrf2 T G 17: 43,025,271 (GRCm39) K71T possibly damaging Het
Brca2 T A 5: 150,464,076 (GRCm39) M1280K probably benign Het
Card14 T C 11: 119,224,405 (GRCm39) S541P possibly damaging Het
Cd19 G T 7: 126,013,496 (GRCm39) Q98K possibly damaging Het
Ceacam5 T A 7: 17,493,341 (GRCm39) I788N possibly damaging Het
Cpne2 A T 8: 95,284,048 (GRCm39) I290L probably benign Het
Cpsf1 C T 15: 76,481,209 (GRCm39) V1216I probably benign Het
Csad G A 15: 102,097,357 (GRCm39) probably benign Het
Depdc7 T A 2: 104,560,853 (GRCm39) Q47L probably benign Het
Dnajc6 T A 4: 101,455,123 (GRCm39) S105T probably benign Het
Dsg4 C A 18: 20,604,047 (GRCm39) P838Q probably damaging Het
Efcab3 T A 11: 104,999,647 (GRCm39) Y179N possibly damaging Het
Egfr A T 11: 16,809,025 (GRCm39) N73I possibly damaging Het
Eya2 T C 2: 165,529,657 (GRCm39) probably null Het
Fubp1 A G 3: 151,923,652 (GRCm39) Q123R possibly damaging Het
Galns A G 8: 123,311,693 (GRCm39) I439T possibly damaging Het
Gm57858 A T 3: 36,079,506 (GRCm39) S261R possibly damaging Het
Gsdmd T G 15: 75,736,803 (GRCm39) L140R probably damaging Het
Hcrtr1 A G 4: 130,029,478 (GRCm39) V201A possibly damaging Het
Ildr2 T A 1: 166,135,361 (GRCm39) M371K probably benign Het
Kalrn G A 16: 34,134,582 (GRCm39) T412I possibly damaging Het
Kdm5b C T 1: 134,552,656 (GRCm39) Q1211* probably null Het
Loxhd1 T C 18: 77,517,671 (GRCm39) S1840P possibly damaging Het
Maml2 A G 9: 13,617,781 (GRCm39) M376V probably benign Het
Mgat4e T C 1: 134,469,745 (GRCm39) T100A probably damaging Het
Myo18b T A 5: 113,013,168 (GRCm39) T812S possibly damaging Het
Nanp T A 2: 150,881,158 (GRCm39) E30V probably null Het
Or2w1b G T 13: 21,300,217 (GRCm39) M118I probably damaging Het
Or4c107 T G 2: 88,788,849 (GRCm39) L13R probably damaging Het
Or5ac21 A T 16: 59,123,990 (GRCm39) H158L probably damaging Het
Parp3 T A 9: 106,351,393 (GRCm39) N241I probably benign Het
Piezo2 T C 18: 63,175,610 (GRCm39) N1924D probably benign Het
Pou1f1 A G 16: 65,326,811 (GRCm39) N137S probably damaging Het
Ptgdr A G 14: 45,096,094 (GRCm39) M206T probably damaging Het
Ptprd T C 4: 76,004,696 (GRCm39) T20A probably benign Het
Rexo1 G C 10: 80,385,497 (GRCm39) S520R probably benign Het
Sgip1 T A 4: 102,727,005 (GRCm39) S94T probably benign Het
Slc35e3 A G 10: 117,576,785 (GRCm39) V182A probably benign Het
Slfn2 A G 11: 82,961,089 (GRCm39) E356G probably damaging Het
Spry4 C A 18: 38,722,982 (GRCm39) K260N probably damaging Het
Sync A T 4: 129,187,375 (GRCm39) M136L probably benign Het
Tm7sf2 A G 19: 6,120,638 (GRCm39) V425A probably benign Het
Trim21 T A 7: 102,208,742 (GRCm39) M326L probably benign Het
Trim62 A G 4: 128,790,677 (GRCm39) Q158R probably benign Het
Tubgcp2 T A 7: 139,580,964 (GRCm39) K663M probably damaging Het
Uggt1 T C 1: 36,202,316 (GRCm39) I1094V probably damaging Het
Urb1 A G 16: 90,594,798 (GRCm39) S245P probably damaging Het
Vwa3a A T 7: 120,351,838 (GRCm39) D34V probably null Het
Zfp655 T C 5: 145,173,999 (GRCm39) S135P unknown 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
R7137:Zbtb45 UTSW 7 12,741,083 (GRCm39) missense probably benign
R7516:Zbtb45 UTSW 7 12,740,269 (GRCm39) missense probably damaging 1.00
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'- CTACACTCATAGGCGGGTTG -3'
(R):5'- TTACCACTGCAGCTGACAGC -3'

Sequencing Primer
(F):5'- ACTCATAGGCGGGTTGCTCAG -3'
(R):5'- TGACAGCGCTCGAGAGGATC -3'
Posted On 2019-10-24