Incidental Mutation 'R6566:Zbtb5'
ID 522661
Institutional Source Beutler Lab
Gene Symbol Zbtb5
Ensembl Gene ENSMUSG00000049657
Gene Name zinc finger and BTB domain containing 5
Synonyms 9430083K24Rik
MMRRC Submission 044690-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6566 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 44991242-45012412 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44994508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 292 (T292M)
Ref Sequence ENSEMBL: ENSMUSP00000136507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045078] [ENSMUST00000055028] [ENSMUST00000107817] [ENSMUST00000131991] [ENSMUST00000180217]
AlphaFold Q7TQG0
Predicted Effect probably benign
Transcript: ENSMUST00000045078
SMART Domains Protein: ENSMUSP00000047218
Gene: ENSMUSG00000035637

DomainStartEndE-ValueType
Pfam:2-Hacid_dh 9 327 1.4e-28 PFAM
Pfam:2-Hacid_dh_C 116 295 1.3e-59 PFAM
Pfam:NAD_binding_2 153 272 3.4e-8 PFAM
Pfam:F420_oxidored 155 244 3.2e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000055028
AA Change: T292M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000059919
Gene: ENSMUSG00000049657
AA Change: T292M

DomainStartEndE-ValueType
BTB 24 123 1.06e-28 SMART
low complexity region 149 163 N/A INTRINSIC
low complexity region 345 361 N/A INTRINSIC
low complexity region 369 380 N/A INTRINSIC
low complexity region 444 459 N/A INTRINSIC
low complexity region 544 554 N/A INTRINSIC
ZnF_C2H2 606 628 1.16e-1 SMART
ZnF_C2H2 634 654 2.47e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107817
AA Change: T292M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103447
Gene: ENSMUSG00000049657
AA Change: T292M

DomainStartEndE-ValueType
BTB 24 123 1.06e-28 SMART
low complexity region 149 163 N/A INTRINSIC
low complexity region 345 361 N/A INTRINSIC
low complexity region 369 380 N/A INTRINSIC
low complexity region 444 459 N/A INTRINSIC
low complexity region 544 554 N/A INTRINSIC
ZnF_C2H2 606 628 1.16e-1 SMART
ZnF_C2H2 634 654 2.47e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131991
SMART Domains Protein: ENSMUSP00000122991
Gene: ENSMUSG00000049657

DomainStartEndE-ValueType
BTB 24 123 1.06e-28 SMART
low complexity region 149 163 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000180217
AA Change: T292M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136507
Gene: ENSMUSG00000049657
AA Change: T292M

DomainStartEndE-ValueType
BTB 24 123 1.06e-28 SMART
low complexity region 149 163 N/A INTRINSIC
low complexity region 345 361 N/A INTRINSIC
low complexity region 369 380 N/A INTRINSIC
low complexity region 444 459 N/A INTRINSIC
low complexity region 544 554 N/A INTRINSIC
ZnF_C2H2 606 628 1.16e-1 SMART
ZnF_C2H2 634 654 2.47e1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,075,321 (GRCm39) I164T probably damaging Het
Adad2 C T 8: 120,340,971 (GRCm39) P164S probably benign Het
Adcy3 T A 12: 4,244,324 (GRCm39) L278H probably damaging Het
Aldh16a1 A C 7: 44,792,651 (GRCm39) D670E probably benign Het
Bcat1 A G 6: 144,961,210 (GRCm39) M131T probably damaging Het
Dcstamp T C 15: 39,617,732 (GRCm39) F47S possibly damaging Het
Dsg1b T C 18: 20,530,499 (GRCm39) F385L probably damaging Het
Exoc8 A C 8: 125,622,783 (GRCm39) L528R probably damaging Het
Fat4 T C 3: 39,011,275 (GRCm39) V2125A possibly damaging Het
Gm57859 C T 11: 113,578,824 (GRCm39) P73L probably damaging Het
Hecw1 T C 13: 14,471,868 (GRCm39) D600G probably damaging Het
Ice2 G A 9: 69,323,511 (GRCm39) V669I probably benign Het
Khdc4 C T 3: 88,618,961 (GRCm39) T555M probably damaging Het
Lsr T A 7: 30,671,508 (GRCm39) Y75F possibly damaging Het
Mrps30 C A 13: 118,523,662 (GRCm39) V37L probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Or6c217 T A 10: 129,737,947 (GRCm39) I211L probably benign Het
Pign A G 1: 105,565,906 (GRCm39) probably null Het
Plcd3 A G 11: 102,964,626 (GRCm39) Y582H probably damaging Het
Rad9b A G 5: 122,490,630 (GRCm39) W29R probably damaging Het
Rb1cc1 T A 1: 6,319,316 (GRCm39) F912I probably benign Het
Rgs16 C T 1: 153,619,546 (GRCm39) S184L unknown Het
Runx2 A G 17: 45,125,375 (GRCm39) probably null Het
Serpina1f T A 12: 103,659,794 (GRCm39) I163F probably damaging Het
Serpina9 T C 12: 103,963,296 (GRCm39) E404G possibly damaging Het
Slc4a4 T C 5: 89,297,192 (GRCm39) S511P possibly damaging Het
Speg A T 1: 75,365,107 (GRCm39) E390V probably damaging Het
Syne3 A G 12: 104,912,966 (GRCm39) V614A probably benign Het
Tmc5 T C 7: 118,247,067 (GRCm39) S524P probably damaging Het
Tuba4a G A 1: 75,193,930 (GRCm39) T51I probably damaging Het
Tymp T A 15: 89,257,803 (GRCm39) T421S probably benign Het
Uvssa A G 5: 33,549,520 (GRCm39) R394G possibly damaging Het
Wdr7 T G 18: 63,888,126 (GRCm39) I533S possibly damaging Het
Zfp944 T G 17: 22,558,726 (GRCm39) K174Q possibly damaging Het
Other mutations in Zbtb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01995:Zbtb5 APN 4 44,995,294 (GRCm39) missense probably damaging 1.00
IGL02516:Zbtb5 APN 4 44,993,798 (GRCm39) missense probably damaging 0.96
IGL02525:Zbtb5 APN 4 44,994,731 (GRCm39) missense probably benign
IGL03172:Zbtb5 APN 4 44,994,003 (GRCm39) missense possibly damaging 0.76
IGL03205:Zbtb5 APN 4 44,994,949 (GRCm39) missense probably damaging 0.96
madeleine UTSW 4 44,994,863 (GRCm39) splice site probably null
R0681:Zbtb5 UTSW 4 44,993,787 (GRCm39) missense probably damaging 1.00
R1426:Zbtb5 UTSW 4 44,993,968 (GRCm39) missense possibly damaging 0.95
R1577:Zbtb5 UTSW 4 44,995,129 (GRCm39) missense probably damaging 1.00
R1608:Zbtb5 UTSW 4 44,993,500 (GRCm39) missense probably damaging 1.00
R1817:Zbtb5 UTSW 4 44,993,767 (GRCm39) missense probably benign 0.20
R2919:Zbtb5 UTSW 4 44,994,790 (GRCm39) missense probably damaging 1.00
R3722:Zbtb5 UTSW 4 44,994,863 (GRCm39) splice site probably null
R4222:Zbtb5 UTSW 4 44,993,855 (GRCm39) splice site probably null
R5217:Zbtb5 UTSW 4 44,993,990 (GRCm39) missense probably benign
R5326:Zbtb5 UTSW 4 44,995,052 (GRCm39) missense probably damaging 1.00
R5493:Zbtb5 UTSW 4 44,993,941 (GRCm39) missense probably benign 0.04
R5542:Zbtb5 UTSW 4 44,995,052 (GRCm39) missense probably damaging 1.00
R5912:Zbtb5 UTSW 4 44,993,750 (GRCm39) missense probably benign 0.00
R6171:Zbtb5 UTSW 4 44,994,119 (GRCm39) missense probably benign 0.00
R6337:Zbtb5 UTSW 4 44,993,459 (GRCm39) missense probably damaging 1.00
R7481:Zbtb5 UTSW 4 44,994,905 (GRCm39) missense probably benign 0.27
R7534:Zbtb5 UTSW 4 44,995,030 (GRCm39) missense probably damaging 1.00
R7548:Zbtb5 UTSW 4 44,994,724 (GRCm39) missense probably benign 0.18
R7557:Zbtb5 UTSW 4 44,995,196 (GRCm39) missense probably damaging 1.00
R7584:Zbtb5 UTSW 4 44,993,678 (GRCm39) missense probably benign
R7831:Zbtb5 UTSW 4 44,995,244 (GRCm39) missense probably damaging 1.00
R8065:Zbtb5 UTSW 4 44,994,972 (GRCm39) missense probably benign 0.25
R8067:Zbtb5 UTSW 4 44,994,972 (GRCm39) missense probably benign 0.25
R8491:Zbtb5 UTSW 4 44,995,090 (GRCm39) missense probably damaging 1.00
R8932:Zbtb5 UTSW 4 44,993,962 (GRCm39) missense probably benign
R9509:Zbtb5 UTSW 4 44,994,332 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- ATCTTCTCGGCACTGACCAC -3'
(R):5'- GGAGGAATTCTTCTCACCGGATTC -3'

Sequencing Primer
(F):5'- GGCACTGACCACCACTCCTTC -3'
(R):5'- CTCACCGGATTCTCTGAAAATTGTGG -3'
Posted On 2018-06-06