Incidental Mutation 'R4826:Zbtb7b'
ID 374127
Institutional Source Beutler Lab
Gene Symbol Zbtb7b
Ensembl Gene ENSMUSG00000028042
Gene Name zinc finger and BTB domain containing 7B
Synonyms Zfp67, Thpok, c-Krox
MMRRC Submission 042442-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.835) question?
Stock # R4826 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 89284953-89300976 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89288080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 246 (L246S)
Ref Sequence ENSEMBL: ENSMUSP00000103058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029677] [ENSMUST00000107432] [ENSMUST00000107433] [ENSMUST00000107435] [ENSMUST00000124783] [ENSMUST00000126027] [ENSMUST00000208216] [ENSMUST00000148361] [ENSMUST00000142119]
AlphaFold Q64321
Predicted Effect probably benign
Transcript: ENSMUST00000029677
AA Change: L246S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000029677
Gene: ENSMUSG00000028042
AA Change: L246S

DomainStartEndE-ValueType
BTB 34 145 1.45e-26 SMART
low complexity region 167 176 N/A INTRINSIC
low complexity region 184 211 N/A INTRINSIC
low complexity region 244 259 N/A INTRINSIC
low complexity region 275 285 N/A INTRINSIC
ZnF_C2H2 350 372 5.72e-1 SMART
ZnF_C2H2 378 400 5.99e-4 SMART
ZnF_C2H2 406 428 3.83e-2 SMART
ZnF_C2H2 434 454 8.98e0 SMART
low complexity region 477 486 N/A INTRINSIC
low complexity region 511 539 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107432
AA Change: L246S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000103055
Gene: ENSMUSG00000028042
AA Change: L246S

DomainStartEndE-ValueType
BTB 34 145 1.45e-26 SMART
low complexity region 167 176 N/A INTRINSIC
low complexity region 184 211 N/A INTRINSIC
low complexity region 244 259 N/A INTRINSIC
low complexity region 275 285 N/A INTRINSIC
ZnF_C2H2 350 372 5.72e-1 SMART
ZnF_C2H2 378 400 5.99e-4 SMART
ZnF_C2H2 406 428 3.83e-2 SMART
ZnF_C2H2 434 454 8.98e0 SMART
low complexity region 477 486 N/A INTRINSIC
low complexity region 511 539 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107433
AA Change: L246S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000103056
Gene: ENSMUSG00000028042
AA Change: L246S

DomainStartEndE-ValueType
BTB 34 145 1.45e-26 SMART
low complexity region 167 176 N/A INTRINSIC
low complexity region 184 211 N/A INTRINSIC
low complexity region 244 259 N/A INTRINSIC
low complexity region 275 285 N/A INTRINSIC
ZnF_C2H2 350 372 5.72e-1 SMART
ZnF_C2H2 378 400 5.99e-4 SMART
ZnF_C2H2 406 428 3.83e-2 SMART
ZnF_C2H2 434 454 8.98e0 SMART
low complexity region 477 486 N/A INTRINSIC
low complexity region 511 539 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107435
AA Change: L246S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000103058
Gene: ENSMUSG00000028042
AA Change: L246S

DomainStartEndE-ValueType
BTB 34 145 1.45e-26 SMART
low complexity region 167 176 N/A INTRINSIC
low complexity region 184 211 N/A INTRINSIC
low complexity region 244 259 N/A INTRINSIC
low complexity region 275 285 N/A INTRINSIC
ZnF_C2H2 350 372 5.72e-1 SMART
ZnF_C2H2 378 400 5.99e-4 SMART
ZnF_C2H2 406 428 3.83e-2 SMART
ZnF_C2H2 434 454 8.98e0 SMART
low complexity region 477 486 N/A INTRINSIC
low complexity region 511 539 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124783
Predicted Effect probably benign
Transcript: ENSMUST00000126027
SMART Domains Protein: ENSMUSP00000123348
Gene: ENSMUSG00000028042

DomainStartEndE-ValueType
BTB 34 124 1.36e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000208216
Predicted Effect probably benign
Transcript: ENSMUST00000148361
SMART Domains Protein: ENSMUSP00000121498
Gene: ENSMUSG00000028042

DomainStartEndE-ValueType
Pfam:BTB 24 102 1.2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142119
SMART Domains Protein: ENSMUSP00000115425
Gene: ENSMUSG00000028042

DomainStartEndE-ValueType
Pfam:BTB 24 112 2.7e-24 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (72/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger-containing transcription factor that acts as a key regulator of lineage commitment of immature T-cell precursors. It is necessary and sufficient for commitment of CD4 lineage, while its absence causes CD8 commitment. It also functions as a transcriptional repressor of type I collagen genes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous mutants exhibit absence of peripheral T cells of the CD4+CD8- MHC class II-restricted T helper subset due to a specific block in thymic development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,815,470 (GRCm39) R239S probably damaging Het
Acin1 A G 14: 54,902,074 (GRCm39) S573P probably damaging Het
Acta2 A T 19: 34,229,223 (GRCm39) Y55* probably null Het
Aifm2 T C 10: 61,561,768 (GRCm39) M38T probably benign Het
Ank2 C A 3: 126,749,650 (GRCm39) V460L probably benign Het
Ap1b1 T C 11: 4,968,043 (GRCm39) S185P probably benign Het
Arsj A G 3: 126,232,451 (GRCm39) Y399C probably damaging Het
Ciao3 A G 17: 25,999,306 (GRCm39) H240R probably damaging Het
Clec2d T C 6: 129,161,122 (GRCm39) V73A probably benign Het
Cntln T G 4: 84,923,281 (GRCm39) M582R probably benign Het
Cyp4a10 C T 4: 115,375,541 (GRCm39) P8L probably benign Het
Dip2b A G 15: 100,067,162 (GRCm39) N555D probably damaging Het
Dusp4 T A 8: 35,285,671 (GRCm39) F311I probably damaging Het
Eif4g3 T C 4: 137,905,256 (GRCm39) V1245A possibly damaging Het
Ephb3 G A 16: 21,033,745 (GRCm39) R23H possibly damaging Het
Ext2 T C 2: 93,592,975 (GRCm39) T410A probably benign Het
Fam193a A G 5: 34,593,875 (GRCm39) E124G probably damaging Het
Fat4 T A 3: 39,037,106 (GRCm39) V3586E probably damaging Het
Frmd4a T C 2: 4,606,108 (GRCm39) S611P probably damaging Het
Gcn1 A G 5: 115,731,752 (GRCm39) T956A probably benign Het
Gm10549 C A 18: 33,603,838 (GRCm39) T107K unknown Het
Herc6 T A 6: 57,624,072 (GRCm39) M614K probably benign Het
Hspg2 T C 4: 137,292,706 (GRCm39) C4095R probably damaging Het
Hyal5 T C 6: 24,891,575 (GRCm39) I463T possibly damaging Het
Icam5 C T 9: 20,949,099 (GRCm39) A817V possibly damaging Het
Igf2r A T 17: 12,920,240 (GRCm39) D1366E probably damaging Het
Ints7 G A 1: 191,344,018 (GRCm39) V553I probably damaging Het
Iqgap2 T A 13: 95,899,783 (GRCm39) I92F probably damaging Het
Itgb1 T A 8: 129,446,789 (GRCm39) C435S probably damaging Het
Lrrc71 T C 3: 87,650,615 (GRCm39) M216V probably benign Het
Mgam T C 6: 40,657,582 (GRCm39) V979A possibly damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Myh9 A T 15: 77,673,146 (GRCm39) Y400* probably null Het
Nbeal1 A G 1: 60,290,501 (GRCm39) R1033G possibly damaging Het
Nit1 T C 1: 171,173,166 (GRCm39) probably benign Het
Nlrp1c-ps A G 11: 71,133,343 (GRCm39) noncoding transcript Het
Nt5c1a T C 4: 123,102,365 (GRCm39) V97A probably damaging Het
Or12k5 A G 2: 36,895,345 (GRCm39) Y94H probably damaging Het
Or13a18 T A 7: 140,190,232 (GRCm39) M51K probably benign Het
Or1a1b A G 11: 74,097,157 (GRCm39) M295T possibly damaging Het
Or56a5 G T 7: 104,793,175 (GRCm39) N108K probably damaging Het
Or9m1 T A 2: 87,733,693 (GRCm39) D109V probably damaging Het
Pde4a T A 9: 21,103,676 (GRCm39) probably null Het
Pkn2 T C 3: 142,515,270 (GRCm39) K640R probably damaging Het
Pla2g6 A G 15: 79,192,879 (GRCm39) S263P possibly damaging Het
Prkg1 A G 19: 31,742,006 (GRCm39) S73P possibly damaging Het
Prr27 A C 5: 87,998,825 (GRCm39) probably benign Het
Rad54b G T 4: 11,599,753 (GRCm39) W319L probably damaging Het
Rassf8 T A 6: 145,762,276 (GRCm39) L349H probably damaging Het
Rmc1 G T 18: 12,318,836 (GRCm39) probably benign Het
Rnf113a2 T A 12: 84,464,388 (GRCm39) N93K probably benign Het
Sapcd2 C T 2: 25,262,768 (GRCm39) A109V probably benign Het
Slamf9 C A 1: 172,304,008 (GRCm39) H118N probably benign Het
Slc37a1 A G 17: 31,541,147 (GRCm39) Y213C probably damaging Het
Slc5a1 A G 5: 33,316,494 (GRCm39) D580G probably benign Het
Slc7a2 T A 8: 41,364,083 (GRCm39) I432N probably damaging Het
Tas2r114 A T 6: 131,666,800 (GRCm39) L76Q probably damaging Het
Tcerg1 C T 18: 42,668,180 (GRCm39) P391L unknown Het
Tdrd12 A C 7: 35,203,582 (GRCm39) V314G probably benign Het
Other mutations in Zbtb7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01537:Zbtb7b APN 3 89,287,278 (GRCm39) missense possibly damaging 0.88
IGL02812:Zbtb7b APN 3 89,287,081 (GRCm39) missense probably damaging 0.97
R5313:Zbtb7b UTSW 3 89,288,626 (GRCm39) missense probably damaging 0.99
R5354:Zbtb7b UTSW 3 89,286,913 (GRCm39) unclassified probably benign
R7151:Zbtb7b UTSW 3 89,288,209 (GRCm39) missense probably benign 0.00
R7152:Zbtb7b UTSW 3 89,288,209 (GRCm39) missense probably benign 0.00
R7250:Zbtb7b UTSW 3 89,286,976 (GRCm39) missense probably benign 0.00
R7426:Zbtb7b UTSW 3 89,288,366 (GRCm39) missense probably damaging 1.00
R8556:Zbtb7b UTSW 3 89,300,444 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- GATCTTCATCTGAGCCCAGC -3'
(R):5'- ATGCCCAACGGTGAAGACAG -3'

Sequencing Primer
(F):5'- AGCTCCTCTGGTGATAGCGAG -3'
(R):5'- ACGGTGAAGACAGCCCTC -3'
Posted On 2016-03-01