Incidental Mutation 'R6171:Zbtb5'
ID 490426
Institutional Source Beutler Lab
Gene Symbol Zbtb5
Ensembl Gene ENSMUSG00000049657
Gene Name zinc finger and BTB domain containing 5
Synonyms 9430083K24Rik
MMRRC Submission 044314-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6171 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 44991242-45012412 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44994119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 422 (T422A)
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 benign
Transcript: ENSMUST00000055028
AA Change: T422A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000059919
Gene: ENSMUSG00000049657
AA Change: T422A

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: ENSMUST00000107817
AA Change: T422A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103447
Gene: ENSMUSG00000049657
AA Change: T422A

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 benign
Transcript: ENSMUST00000180217
AA Change: T422A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000136507
Gene: ENSMUSG00000049657
AA Change: T422A

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprs A G 4: 126,211,110 (GRCm39) V269A probably damaging Het
Atp11a T A 8: 12,882,663 (GRCm39) V517D probably damaging Het
Atr C T 9: 95,763,324 (GRCm39) Q1073* probably null Het
C87436 A C 6: 86,422,449 (GRCm39) T8P probably benign Het
Clasrp T C 7: 19,318,747 (GRCm39) probably benign Het
Creb3l1 G T 2: 91,821,614 (GRCm39) Q254K probably damaging Het
Dapl1 C A 2: 59,326,946 (GRCm39) T64K probably benign Het
Dnah2 A T 11: 69,313,868 (GRCm39) L4168Q probably damaging Het
Dnttip2 T A 3: 122,072,511 (GRCm39) I597N probably damaging Het
Dyrk1b A T 7: 27,885,975 (GRCm39) probably null Het
Elk3 G T 10: 93,085,906 (GRCm39) P132Q probably damaging Het
Galt C T 4: 41,757,541 (GRCm39) P238S probably damaging Het
Gm10322 T C 10: 59,452,084 (GRCm39) V67A possibly damaging Het
Ice1 T C 13: 70,754,850 (GRCm39) Y412C probably benign Het
Kcna1 A T 6: 126,619,286 (GRCm39) Y345N probably damaging Het
Kif1b T C 4: 149,342,505 (GRCm39) Y419C probably damaging Het
Klf15 G T 6: 90,443,601 (GRCm39) A59S possibly damaging Het
Mettl17 T A 14: 52,126,236 (GRCm39) Y162N probably damaging Het
Myh10 G A 11: 68,682,716 (GRCm39) R1050Q probably damaging Het
Nek4 T C 14: 30,692,304 (GRCm39) V376A probably benign Het
Nemp1 T A 10: 127,525,319 (GRCm39) probably null Het
Nlrp9a T C 7: 26,258,188 (GRCm39) I602T possibly damaging Het
Nphp4 T C 4: 152,628,906 (GRCm39) V764A probably damaging Het
Or12e1 T A 2: 87,022,709 (GRCm39) V226E possibly damaging Het
Or8c17 C T 9: 38,179,898 (GRCm39) Q22* probably null Het
Osbp2 A T 11: 3,667,221 (GRCm39) probably null Het
Pax2 A G 19: 44,779,179 (GRCm39) Y185C probably damaging Het
Pdyn A T 2: 129,530,268 (GRCm39) S134T possibly damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Ppp1r13l A G 7: 19,111,436 (GRCm39) M754V probably benign Het
Prr23a3 T A 9: 98,747,731 (GRCm39) N228K probably benign Het
Psmd12 T C 11: 107,382,733 (GRCm39) F213L probably damaging Het
Qser1 A T 2: 104,619,628 (GRCm39) S395T probably damaging Het
Rab7b A G 1: 131,626,372 (GRCm39) probably null Het
Rev3l T A 10: 39,738,709 (GRCm39) L2821* probably null Het
Rplp0 A G 5: 115,699,219 (GRCm39) N127S probably benign Het
Serpina9 G T 12: 103,974,678 (GRCm39) Y158* probably null Het
Sis G A 3: 72,868,360 (GRCm39) T110M possibly damaging Het
Slc43a2 A G 11: 75,453,876 (GRCm39) Y263C probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Stard13 A T 5: 151,016,227 (GRCm39) V88E probably damaging Het
Trim29 G A 9: 43,230,674 (GRCm39) E286K probably damaging Het
Vmn2r24 T C 6: 123,764,205 (GRCm39) S361P probably damaging Het
Wnk2 T C 13: 49,214,308 (GRCm39) T18A probably damaging Het
Xylb C T 9: 119,210,657 (GRCm39) T380M probably damaging Het
Zhx2 A G 15: 57,686,602 (GRCm39) E657G probably 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
R6337:Zbtb5 UTSW 4 44,993,459 (GRCm39) missense probably damaging 1.00
R6566:Zbtb5 UTSW 4 44,994,508 (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'- GTTCTCCTTGGTAGCCTGAG -3'
(R):5'- AGAAGATAGACCTCAGCCCTG -3'

Sequencing Primer
(F):5'- TAGCCTGAGGTCTGCACACAG -3'
(R):5'- TCAGCCCTGAAAGCAGTG -3'
Posted On 2017-10-10