Incidental Mutation 'R0529:Zbtb7a'
ID 49063
Institutional Source Beutler Lab
Gene Symbol Zbtb7a
Ensembl Gene ENSMUSG00000035011
Gene Name zinc finger and BTB domain containing 7a
Synonyms Zbtb7, 9130006G12Rik, Lrf, 9030619K07Rik, FBI-1, Leukemia/lymphoma Related Factor, Pokemon
MMRRC Submission 038721-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0529 (G1)
Quality Score 134
Status Validated
Chromosome 10
Chromosomal Location 80971113-80988056 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80979820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 5 (V5M)
Ref Sequence ENSEMBL: ENSMUSP00000113787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048128] [ENSMUST00000117956] [ENSMUST00000119606] [ENSMUST00000121840] [ENSMUST00000125261] [ENSMUST00000146895]
AlphaFold O88939
Predicted Effect probably damaging
Transcript: ENSMUST00000048128
AA Change: V5M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000047333
Gene: ENSMUSG00000035011
AA Change: V5M

DomainStartEndE-ValueType
BTB 34 131 5.01e-30 SMART
low complexity region 195 205 N/A INTRINSIC
low complexity region 215 232 N/A INTRINSIC
low complexity region 245 261 N/A INTRINSIC
low complexity region 267 289 N/A INTRINSIC
low complexity region 297 314 N/A INTRINSIC
ZnF_C2H2 376 398 7.55e-1 SMART
ZnF_C2H2 404 426 2.79e-4 SMART
ZnF_C2H2 432 454 1.58e-3 SMART
ZnF_C2H2 460 480 5.4e1 SMART
low complexity region 486 519 N/A INTRINSIC
low complexity region 528 535 N/A INTRINSIC
low complexity region 546 563 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117956
AA Change: V5M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113428
Gene: ENSMUSG00000035011
AA Change: V5M

DomainStartEndE-ValueType
BTB 34 131 5.01e-30 SMART
low complexity region 195 205 N/A INTRINSIC
low complexity region 215 232 N/A INTRINSIC
low complexity region 245 261 N/A INTRINSIC
low complexity region 267 289 N/A INTRINSIC
low complexity region 297 314 N/A INTRINSIC
ZnF_C2H2 376 398 7.55e-1 SMART
ZnF_C2H2 404 426 2.79e-4 SMART
ZnF_C2H2 432 454 1.58e-3 SMART
ZnF_C2H2 460 480 5.4e1 SMART
low complexity region 486 519 N/A INTRINSIC
low complexity region 528 535 N/A INTRINSIC
low complexity region 546 563 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119606
AA Change: V5M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113612
Gene: ENSMUSG00000035011
AA Change: V5M

DomainStartEndE-ValueType
BTB 34 131 5.01e-30 SMART
low complexity region 195 205 N/A INTRINSIC
low complexity region 215 232 N/A INTRINSIC
low complexity region 245 261 N/A INTRINSIC
low complexity region 267 289 N/A INTRINSIC
low complexity region 297 314 N/A INTRINSIC
ZnF_C2H2 376 398 7.55e-1 SMART
ZnF_C2H2 404 426 2.79e-4 SMART
ZnF_C2H2 432 454 1.58e-3 SMART
ZnF_C2H2 460 480 5.4e1 SMART
low complexity region 486 519 N/A INTRINSIC
low complexity region 528 535 N/A INTRINSIC
low complexity region 546 563 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121840
AA Change: V5M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113787
Gene: ENSMUSG00000035011
AA Change: V5M

DomainStartEndE-ValueType
BTB 34 131 5.01e-30 SMART
low complexity region 195 205 N/A INTRINSIC
low complexity region 215 232 N/A INTRINSIC
low complexity region 245 261 N/A INTRINSIC
low complexity region 267 289 N/A INTRINSIC
low complexity region 297 314 N/A INTRINSIC
ZnF_C2H2 376 398 7.55e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000125261
AA Change: V5M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114470
Gene: ENSMUSG00000035011
AA Change: V5M

DomainStartEndE-ValueType
BTB 34 131 5.01e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000146895
AA Change: V5M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Meta Mutation Damage Score 0.0758 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 97% (58/60)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele die around E16.5 due to anemia and exhibit a cell autonomous defect in early B cell development. [provided by MGI curators]
Allele List at MGI

All alleles(58) : Targeted, knock-out(1) Targeted, other(3) Gene trapped(54)

Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G A 17: 9,211,228 (GRCm39) V126I probably benign Het
Aasdh A C 5: 77,024,114 (GRCm39) Y179* probably null Het
Afp A G 5: 90,652,254 (GRCm39) Y415C probably damaging Het
Aldh5a1 G T 13: 25,097,856 (GRCm39) T393K probably benign Het
Arhgef26 T C 3: 62,247,146 (GRCm39) S77P probably benign Het
Axl A G 7: 25,486,712 (GRCm39) probably benign Het
Card10 A G 15: 78,664,675 (GRCm39) probably null Het
Ccdc71l G A 12: 32,429,251 (GRCm39) S90N probably damaging Het
Cebpa A T 7: 34,819,624 (GRCm39) T261S probably benign Het
Cnmd T C 14: 79,879,481 (GRCm39) E219G probably benign Het
Cntln T A 4: 84,986,062 (GRCm39) L1010H probably damaging Het
Cul9 A G 17: 46,831,394 (GRCm39) probably benign Het
Cyld A G 8: 89,456,387 (GRCm39) E479G probably benign Het
Dmp1 A G 5: 104,360,092 (GRCm39) E256G probably benign Het
Dnmt1 T C 9: 20,822,846 (GRCm39) D1140G probably damaging Het
Drd2 A C 9: 49,318,374 (GRCm39) M439L probably benign Het
Drd3 G A 16: 43,643,077 (GRCm39) V438M probably damaging Het
Dyrk3 A G 1: 131,057,858 (GRCm39) I70T probably benign Het
Fbxo38 T C 18: 62,639,057 (GRCm39) K1082E probably damaging Het
Fbxw10 A C 11: 62,750,671 (GRCm39) D428A probably damaging Het
Fmn1 T A 2: 113,538,198 (GRCm39) probably benign Het
Fmnl2 A T 2: 52,932,377 (GRCm39) I119F probably damaging Het
Frmd4a A G 2: 4,610,834 (GRCm39) T995A probably damaging Het
Gda T A 19: 21,402,901 (GRCm39) I82F probably damaging Het
Gpatch4 T A 3: 87,958,583 (GRCm39) H22Q probably damaging Het
Gpr55 A G 1: 85,869,225 (GRCm39) F119L probably benign Het
Gtf2i A T 5: 134,290,723 (GRCm39) L425* probably null Het
Knstrn T A 2: 118,661,461 (GRCm39) probably benign Het
Lipo2 T A 19: 33,724,335 (GRCm39) I144L probably benign Het
Lrp1 T C 10: 127,377,463 (GRCm39) probably null Het
Mtmr14 T C 6: 113,243,213 (GRCm39) probably benign Het
Nsmce4a A T 7: 130,135,536 (GRCm39) S345R probably benign Het
Oacyl T A 18: 65,875,290 (GRCm39) V385D probably damaging Het
Or6k8-ps1 G A 1: 173,979,696 (GRCm39) A205T probably benign Het
Or8b52 A T 9: 38,576,808 (GRCm39) C111S probably benign Het
Phlpp2 T C 8: 110,603,603 (GRCm39) S55P probably benign Het
Pkhd1l1 T A 15: 44,390,150 (GRCm39) V1422E possibly damaging Het
Plcd3 T G 11: 102,971,013 (GRCm39) H181P probably benign Het
Psmc5 G A 11: 106,151,990 (GRCm39) probably null Het
Psmd11 T C 11: 80,361,515 (GRCm39) probably benign Het
Rab39 T C 9: 53,598,016 (GRCm39) Y83C probably damaging Het
Ric8a A G 7: 140,440,806 (GRCm39) E93G probably damaging Het
Rtp3 T C 9: 110,816,152 (GRCm39) E133G possibly damaging Het
Serpina1e A C 12: 103,915,363 (GRCm39) L281R probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Tent5c A G 3: 100,379,686 (GRCm39) Y357H probably benign Het
Tmem63a A T 1: 180,788,659 (GRCm39) E332V probably benign Het
Tnk1 T C 11: 69,745,990 (GRCm39) T312A probably damaging Het
Traf3ip3 G T 1: 192,877,119 (GRCm39) probably benign Het
Trappc11 A G 8: 47,980,014 (GRCm39) V174A possibly damaging Het
Vmn1r174 G A 7: 23,453,622 (GRCm39) R96H probably benign Het
Vmn1r7 T A 6: 57,001,450 (GRCm39) Y270F possibly damaging Het
Vmn2r12 A G 5: 109,240,714 (GRCm39) V133A probably benign Het
Vmn2r18 T A 5: 151,485,988 (GRCm39) E502V probably damaging Het
Wipf3 C A 6: 54,462,348 (GRCm39) P186Q probably damaging Het
Yipf5 A T 18: 40,345,215 (GRCm39) M55K probably benign Het
Zfy1 G T Y: 726,040 (GRCm39) S575Y probably damaging Het
Other mutations in Zbtb7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02937:Zbtb7a APN 10 80,980,132 (GRCm39) missense probably benign 0.30
Bushel UTSW 10 80,984,163 (GRCm39) missense probably benign 0.01
dram UTSW 10 80,980,100 (GRCm39) missense probably damaging 1.00
Gallon UTSW 10 80,980,274 (GRCm39) missense probably damaging 1.00
peck UTSW 10 80,979,820 (GRCm39) missense probably damaging 1.00
D6062:Zbtb7a UTSW 10 80,980,192 (GRCm39) missense probably damaging 0.99
R0562:Zbtb7a UTSW 10 80,984,163 (GRCm39) missense probably benign 0.01
R2045:Zbtb7a UTSW 10 80,980,244 (GRCm39) missense probably benign 0.03
R2275:Zbtb7a UTSW 10 80,980,831 (GRCm39) missense possibly damaging 0.95
R3755:Zbtb7a UTSW 10 80,980,100 (GRCm39) missense probably damaging 1.00
R3883:Zbtb7a UTSW 10 80,983,859 (GRCm39) missense probably damaging 1.00
R4723:Zbtb7a UTSW 10 80,980,274 (GRCm39) missense probably damaging 1.00
R5503:Zbtb7a UTSW 10 80,980,631 (GRCm39) missense probably damaging 0.96
R5650:Zbtb7a UTSW 10 80,980,883 (GRCm39) missense probably damaging 1.00
R6872:Zbtb7a UTSW 10 80,983,905 (GRCm39) missense possibly damaging 0.95
R7196:Zbtb7a UTSW 10 80,980,434 (GRCm39) missense probably damaging 0.99
R7558:Zbtb7a UTSW 10 80,984,269 (GRCm39) makesense probably null
R7602:Zbtb7a UTSW 10 80,980,010 (GRCm39) missense probably damaging 0.99
R8220:Zbtb7a UTSW 10 80,980,838 (GRCm39) missense probably damaging 0.99
R8317:Zbtb7a UTSW 10 80,980,784 (GRCm39) missense probably benign 0.18
R8552:Zbtb7a UTSW 10 80,980,141 (GRCm39) missense probably damaging 1.00
R8930:Zbtb7a UTSW 10 80,980,368 (GRCm39) missense probably benign 0.04
R8932:Zbtb7a UTSW 10 80,980,368 (GRCm39) missense probably benign 0.04
R9782:Zbtb7a UTSW 10 80,979,910 (GRCm39) missense probably damaging 0.99
R9792:Zbtb7a UTSW 10 80,980,378 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- AGCCAGTCGATGGAACTCTTCCTC -3'
(R):5'- ATCATCAGCCGCCAGAATCTGACG -3'

Sequencing Primer
(F):5'- GATGGAACTCTTCCTCTGTCACG -3'
(R):5'- CGACGTGAACAGCTTCTTG -3'
Posted On 2013-06-12