Incidental Mutation 'IGL01588:Pbx2'
ID91516
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pbx2
Ensembl Gene ENSMUSG00000034673
Gene Namepre B cell leukemia homeobox 2
SynonymsG17
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01588
Quality Score
Status
Chromosome17
Chromosomal Location34591266-34597400 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 34595618 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015596] [ENSMUST00000038149] [ENSMUST00000038244] [ENSMUST00000150924] [ENSMUST00000173328] [ENSMUST00000173772] [ENSMUST00000173992] [ENSMUST00000174069] [ENSMUST00000174496] [ENSMUST00000174532] [ENSMUST00000183827]
Predicted Effect probably benign
Transcript: ENSMUST00000015596
SMART Domains Protein: ENSMUSP00000015596
Gene: ENSMUSG00000015452

DomainStartEndE-ValueType
IG 23 117 2.44e-7 SMART
Pfam:C2-set_2 123 217 4.3e-24 PFAM
IGc2 248 306 7.63e-18 SMART
transmembrane domain 339 361 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000038149
SMART Domains Protein: ENSMUSP00000040464
Gene: ENSMUSG00000034673

DomainStartEndE-ValueType
low complexity region 7 49 N/A INTRINSIC
Pfam:PBC 50 243 1.3e-97 PFAM
HOX 244 309 1.9e-18 SMART
low complexity region 327 353 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000038244
SMART Domains Protein: ENSMUSP00000045911
Gene: ENSMUSG00000034786

DomainStartEndE-ValueType
low complexity region 29 42 N/A INTRINSIC
GoLoco 61 83 2.02e-6 SMART
low complexity region 86 100 N/A INTRINSIC
GoLoco 103 125 2.42e-4 SMART
GoLoco 131 154 4.05e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150924
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172757
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172932
SMART Domains Protein: ENSMUSP00000133660
Gene: ENSMUSG00000015452

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173229
Predicted Effect probably benign
Transcript: ENSMUST00000173328
SMART Domains Protein: ENSMUSP00000133766
Gene: ENSMUSG00000034673

DomainStartEndE-ValueType
Pfam:PBC 1 161 5e-84 PFAM
HOX 162 227 1.9e-18 SMART
low complexity region 245 271 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173551
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173589
SMART Domains Protein: ENSMUSP00000133845
Gene: ENSMUSG00000015452

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173772
SMART Domains Protein: ENSMUSP00000134130
Gene: ENSMUSG00000034786

DomainStartEndE-ValueType
GoLoco 27 50 4.05e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173992
SMART Domains Protein: ENSMUSP00000134579
Gene: ENSMUSG00000015452

DomainStartEndE-ValueType
IG 23 108 3.23e-7 SMART
Pfam:C2-set_2 114 208 3.3e-24 PFAM
IGc2 239 297 7.63e-18 SMART
transmembrane domain 321 343 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174069
SMART Domains Protein: ENSMUSP00000133391
Gene: ENSMUSG00000015452

DomainStartEndE-ValueType
IG 23 117 2.44e-7 SMART
Pfam:C2-set_2 123 217 2.5e-24 PFAM
IGc2 248 306 7.63e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174496
SMART Domains Protein: ENSMUSP00000134401
Gene: ENSMUSG00000015452

DomainStartEndE-ValueType
IG 23 117 2.44e-7 SMART
Pfam:C2-set_2 123 217 3.4e-24 PFAM
IGc2 248 306 7.63e-18 SMART
transmembrane domain 330 352 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174532
SMART Domains Protein: ENSMUSP00000133744
Gene: ENSMUSG00000034673

DomainStartEndE-ValueType
Pfam:PBC 1 148 3.5e-74 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174640
Predicted Effect probably benign
Transcript: ENSMUST00000183827
SMART Domains Protein: ENSMUSP00000139079
Gene: ENSMUSG00000034673

DomainStartEndE-ValueType
Pfam:PBC 1 183 9.5e-98 PFAM
HOX 184 249 1.9e-18 SMART
low complexity region 267 293 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184805
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184846
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 ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are healthy and fertile with no apparent abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aspm T A 1: 139,478,162 S1596T probably benign Het
Atp10b G A 11: 43,172,721 R161H probably benign Het
Csn2 T C 5: 87,694,649 H165R probably benign Het
Dido1 A G 2: 180,688,875 V260A probably benign Het
Ece1 C T 4: 137,957,206 probably benign Het
Garem1 T G 18: 21,129,797 R653S probably damaging Het
Gpatch2 A T 1: 187,230,794 S261C probably damaging Het
Ing4 A G 6: 125,043,986 N24D possibly damaging Het
Klhdc7a A T 4: 139,966,946 V230D probably damaging Het
Ly96 G A 1: 16,709,454 V116I probably benign Het
Myom1 C T 17: 71,117,437 T1427M possibly damaging Het
Nedd1 C A 10: 92,686,262 V638L probably benign Het
Olfr1161 T C 2: 88,025,073 V117A probably benign Het
Olfr653 C T 7: 104,579,943 S99F probably damaging Het
Olfr948 G A 9: 39,318,832 Q261* probably null Het
Phlpp1 A T 1: 106,380,389 H1132L probably damaging Het
Plpp5 T A 8: 25,724,168 H237Q probably damaging Het
Stard13 C T 5: 151,045,237 R856H probably damaging Het
Sult1e1 T C 5: 87,576,243 K285R probably benign Het
Ubxn8 C T 8: 33,621,559 V269M probably damaging Het
Usp29 A T 7: 6,962,611 K484N probably benign Het
Whrn C T 4: 63,472,778 V80M probably damaging Het
Znhit6 A G 3: 145,596,207 probably benign Het
Other mutations in Pbx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01923:Pbx2 APN 17 34594050 missense probably damaging 1.00
R1748:Pbx2 UTSW 17 34593977 missense possibly damaging 0.81
R2182:Pbx2 UTSW 17 34595666 nonsense probably null
R4257:Pbx2 UTSW 17 34594645 missense probably damaging 1.00
R5011:Pbx2 UTSW 17 34594699 nonsense probably null
R6161:Pbx2 UTSW 17 34593600 missense probably damaging 1.00
R6888:Pbx2 UTSW 17 34594107 missense possibly damaging 0.75
R8047:Pbx2 UTSW 17 34595288 missense probably benign 0.00
Posted On2013-12-09