Incidental Mutation 'IGL03358:Pbx4'
ID420009
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pbx4
Ensembl Gene ENSMUSG00000031860
Gene Namepre B cell leukemia homeobox 4
Synonyms2410015M21Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.264) question?
Stock #IGL03358
Quality Score
Status
Chromosome8
Chromosomal Location69832491-69872292 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 69859111 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 59 (S59P)
Ref Sequence ENSEMBL: ENSMUSP00000121369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081503] [ENSMUST00000131637] [ENSMUST00000132899] [ENSMUST00000134777] [ENSMUST00000156319]
Predicted Effect probably benign
Transcript: ENSMUST00000081503
AA Change: S59P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000080219
Gene: ENSMUSG00000031860
AA Change: S59P

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
Pfam:PBC 24 214 1.2e-89 PFAM
HOX 215 280 3.44e-16 SMART
low complexity region 356 370 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131637
AA Change: S59P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000121369
Gene: ENSMUSG00000031860
AA Change: S59P

DomainStartEndE-ValueType
Pfam:PBC 19 75 3.4e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132259
Predicted Effect probably benign
Transcript: ENSMUST00000132899
AA Change: S59P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000118287
Gene: ENSMUSG00000031860
AA Change: S59P

DomainStartEndE-ValueType
Pfam:PBC 19 74 1.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134777
AA Change: S59P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122281
Gene: ENSMUSG00000031860
AA Change: S59P

DomainStartEndE-ValueType
Pfam:PBC 19 84 5.8e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151975
Predicted Effect probably benign
Transcript: ENSMUST00000156319
AA Change: S59P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119526
Gene: ENSMUSG00000031860
AA Change: S59P

DomainStartEndE-ValueType
Pfam:PBC 19 75 1.3e-25 PFAM
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 member of the pre-B cell leukemia transcription factor family. These proteins are homeobox proteins that play critical roles in embryonic development and cellular differentiation both as Hox cofactors and through Hox-independent pathways. The encoded protein contains a homeobox DNA-binding domain, but specific functions of the protein have not been determined. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik T C 16: 64,766,546 I272V possibly damaging Het
4930590J08Rik A G 6: 91,928,735 N496D probably damaging Het
Adcy2 C T 13: 68,729,277 G448E probably damaging Het
Alad G A 4: 62,510,607 probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Appbp2 A T 11: 85,210,034 M193K probably benign Het
Cd300a G A 11: 114,897,797 M204I possibly damaging Het
Cep350 T A 1: 155,928,539 M933L probably benign Het
Cyp2s1 T A 7: 25,808,148 N292I probably damaging Het
Ddx58 T C 4: 40,206,069 E841G possibly damaging Het
Gnl2 T C 4: 125,052,594 I536T probably damaging Het
Ift140 C T 17: 25,087,984 R898C probably damaging Het
Oosp2 A T 19: 11,651,569 L56* probably null Het
Pars2 A T 4: 106,653,042 H7L probably benign Het
Psg20 G T 7: 18,680,966 H332N probably benign Het
Slc6a13 G A 6: 121,334,536 V384I probably benign Het
Spg21 G A 9: 65,480,416 V164I probably benign Het
Tnc A T 4: 64,017,615 C361* probably null Het
Tsr1 T C 11: 74,903,998 V493A probably benign Het
Ube2u A G 4: 100,547,275 probably benign Het
Vav3 G A 3: 109,647,673 G79E probably damaging Het
Vmn1r81 T G 7: 12,260,305 R125S possibly damaging Het
Vmn2r45 A C 7: 8,471,716 L771R probably damaging Het
Vps54 T A 11: 21,268,799 H119Q probably damaging Het
Other mutations in Pbx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02900:Pbx4 APN 8 69866566 missense probably damaging 1.00
IGL03274:Pbx4 APN 8 69866550 missense probably damaging 1.00
R0513:Pbx4 UTSW 8 69864879 missense probably benign 0.01
R1980:Pbx4 UTSW 8 69870126 missense probably benign 0.00
R4738:Pbx4 UTSW 8 69864969 missense probably damaging 1.00
R5366:Pbx4 UTSW 8 69870170 missense probably benign 0.26
R6365:Pbx4 UTSW 8 69872207 unclassified probably null
R6372:Pbx4 UTSW 8 69872044 missense possibly damaging 0.93
R7037:Pbx4 UTSW 8 69864875 missense probably damaging 1.00
R7585:Pbx4 UTSW 8 69832825 missense probably damaging 0.99
R7760:Pbx4 UTSW 8 69832795 missense probably benign 0.39
Z1177:Pbx4 UTSW 8 69832668 unclassified probably benign
Posted On2016-08-02