Incidental Mutation 'IGL01537:Zbtb7b'
ID89999
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb7b
Ensembl Gene ENSMUSG00000028042
Gene Namezinc finger and BTB domain containing 7B
SynonymsThpok, c-Krox, Zfp67
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.653) question?
Stock #IGL01537
Quality Score
Status
Chromosome3
Chromosomal Location89377644-89394776 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 89379971 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 397 (M397T)
Ref Sequence ENSEMBL: ENSMUSP00000103058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029677] [ENSMUST00000107432] [ENSMUST00000107433] [ENSMUST00000107435] [ENSMUST00000124783] [ENSMUST00000126027] [ENSMUST00000142119] [ENSMUST00000148361] [ENSMUST00000208216]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029677
AA Change: M397T

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029677
Gene: ENSMUSG00000028042
AA Change: M397T

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 possibly damaging
Transcript: ENSMUST00000107432
AA Change: M397T

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103055
Gene: ENSMUSG00000028042
AA Change: M397T

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 possibly damaging
Transcript: ENSMUST00000107433
AA Change: M397T

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103056
Gene: ENSMUSG00000028042
AA Change: M397T

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 possibly damaging
Transcript: ENSMUST00000107435
AA Change: M397T

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103058
Gene: ENSMUSG00000028042
AA Change: M397T

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: ENSMUST00000142119
SMART Domains Protein: ENSMUSP00000115425
Gene: ENSMUSG00000028042

DomainStartEndE-ValueType
Pfam:BTB 24 112 2.7e-24 PFAM
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: ENSMUST00000208216
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn1l T C 8: 109,732,680 R317G probably benign Het
B130006D01Rik T A 11: 95,726,166 probably benign Het
Brinp2 T C 1: 158,246,809 T581A probably damaging Het
Cacna1b A T 2: 24,658,528 I1179N probably damaging Het
Cacnb3 A G 15: 98,643,420 D434G probably damaging Het
Cdh19 T C 1: 110,919,611 T423A possibly damaging Het
Chkb C T 15: 89,427,783 probably benign Het
Cit T C 5: 115,933,854 Y623H probably benign Het
Clstn3 G A 6: 124,431,600 R918C possibly damaging Het
Dnah2 T A 11: 69,516,080 M200L probably benign Het
Dnah9 T A 11: 65,947,680 H3097L probably benign Het
Dst T A 1: 34,275,320 L4217H probably damaging Het
Fam107b T A 2: 3,778,528 L80Q probably damaging Het
Fgfr1 T A 8: 25,555,579 C55S probably damaging Het
Igkv4-71 C A 6: 69,243,280 G78* probably null Het
Igsf10 A G 3: 59,330,031 S910P probably benign Het
Ikzf3 T C 11: 98,516,892 D41G probably damaging Het
Larp1 T A 11: 58,042,822 I358N possibly damaging Het
March5 C T 19: 37,210,668 probably benign Het
Mpdz T C 4: 81,369,658 T455A probably damaging Het
Myo1b A G 1: 51,776,351 V612A possibly damaging Het
Nipbl T C 15: 8,350,539 D923G probably benign Het
Nlrp4b T C 7: 10,714,991 F7L probably damaging Het
Npas4 T C 19: 4,987,327 N313S possibly damaging Het
Nynrin T A 14: 55,872,045 N1536K possibly damaging Het
Olfr1212 T C 2: 88,958,541 V25A probably benign Het
Olfr535 A G 7: 140,492,838 N67D probably damaging Het
Olfr975 T A 9: 39,950,625 T49S probably benign Het
Papd7 A T 13: 69,500,559 S693T probably benign Het
Pclo T C 5: 14,539,633 V649A unknown Het
Pom121 A G 5: 135,392,535 probably benign Het
Ptcd2 A T 13: 99,330,013 I224N possibly damaging Het
Rsrp1 C T 4: 134,923,979 P18L unknown Het
Sash1 A T 10: 8,729,658 N989K probably damaging Het
Scn2a T A 2: 65,715,875 H927Q probably benign Het
Selenoi G T 5: 30,256,224 V128F probably damaging Het
Slc25a42 T C 8: 70,189,442 I117V probably benign Het
Spata1 A G 3: 146,489,803 probably benign Het
Sptlc3 A T 2: 139,589,695 Y379F possibly damaging Het
Tinag C T 9: 77,045,603 R33K probably benign Het
Trappc8 T C 18: 20,835,004 D1092G probably benign Het
Xntrpc A G 7: 102,073,194 E22G probably damaging Het
Zgpat A G 2: 181,378,889 D285G probably benign Het
Other mutations in Zbtb7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02812:Zbtb7b APN 3 89379774 missense probably damaging 0.97
R4826:Zbtb7b UTSW 3 89380773 missense probably benign 0.00
R5313:Zbtb7b UTSW 3 89381319 missense probably damaging 0.99
R5354:Zbtb7b UTSW 3 89379606 unclassified probably benign
R7151:Zbtb7b UTSW 3 89380902 missense probably benign 0.00
R7152:Zbtb7b UTSW 3 89380902 missense probably benign 0.00
R7250:Zbtb7b UTSW 3 89379669 missense probably benign 0.00
R7426:Zbtb7b UTSW 3 89381059 missense probably damaging 1.00
Posted On2013-12-03