Incidental Mutation 'IGL03274:Pbx4'
ID415364
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? Probably non essential (E-score: 0.245) question?
Stock #IGL03274
Quality Score
Status
Chromosome8
Chromosomal Location69832491-69872292 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 69866550 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 244 (S244C)
Ref Sequence ENSEMBL: ENSMUSP00000080219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081503] [ENSMUST00000131637] [ENSMUST00000132899] [ENSMUST00000134777] [ENSMUST00000156319]
Predicted Effect probably damaging
Transcript: ENSMUST00000081503
AA Change: S244C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080219
Gene: ENSMUSG00000031860
AA Change: S244C

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
SMART Domains Protein: ENSMUSP00000121369
Gene: ENSMUSG00000031860

DomainStartEndE-ValueType
Pfam:PBC 19 75 3.4e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132259
Predicted Effect probably benign
Transcript: ENSMUST00000132899
SMART Domains Protein: ENSMUSP00000118287
Gene: ENSMUSG00000031860

DomainStartEndE-ValueType
Pfam:PBC 19 74 1.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134777
SMART Domains Protein: ENSMUSP00000122281
Gene: ENSMUSG00000031860

DomainStartEndE-ValueType
Pfam:PBC 19 84 5.8e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135952
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156251
Predicted Effect probably benign
Transcript: ENSMUST00000156319
SMART Domains Protein: ENSMUSP00000119526
Gene: ENSMUSG00000031860

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037H04Rik A T 2: 131,153,592 probably null Het
Anln C A 9: 22,382,269 R26M probably damaging Het
Capn15 A T 17: 25,961,838 S753T probably damaging Het
Ccdc62 A G 5: 123,954,680 N576S probably benign Het
Csmd3 T C 15: 47,645,504 D2895G probably damaging Het
Dspp T A 5: 104,174,948 V37E probably damaging Het
Efcab6 T C 15: 83,868,249 D1473G probably damaging Het
Ehhadh T C 16: 21,763,340 probably benign Het
Fbln1 T C 15: 85,232,678 probably null Het
Gbp9 A G 5: 105,082,786 V424A possibly damaging Het
Gda T C 19: 21,417,007 Y236C possibly damaging Het
Gm11639 A T 11: 104,721,093 D587V probably benign Het
Gm4884 A G 7: 41,044,545 E646G probably damaging Het
Gm4952 C A 19: 12,623,596 probably benign Het
Gm5422 G T 10: 31,250,352 noncoding transcript Het
Grin2b C T 6: 135,780,255 D403N possibly damaging Het
Hsf2bp G A 17: 32,007,770 R204C probably damaging Het
Il16 T C 7: 83,661,234 E488G probably damaging Het
Kat6b G T 14: 21,609,763 D212Y possibly damaging Het
Kctd2 A C 11: 115,429,382 I247L possibly damaging Het
Kel T A 6: 41,687,995 probably null Het
Krt20 A T 11: 99,430,029 probably benign Het
Litaf T C 16: 10,966,569 T26A probably damaging Het
N4bp2l2 G T 5: 150,661,466 Q350K probably damaging Het
Nav2 T G 7: 49,362,099 I26S probably damaging Het
Nfya A G 17: 48,391,347 Y162H probably damaging Het
Olfr117 C T 17: 37,659,755 A193T probably benign Het
Pcdhb16 T C 18: 37,479,232 V415A probably benign Het
Rbbp8 A G 18: 11,741,076 probably benign Het
Sp100 T C 1: 85,707,304 probably benign Het
Spag16 A G 1: 69,844,381 probably benign Het
Star A G 8: 25,811,054 D138G possibly damaging Het
Other mutations in Pbx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02900:Pbx4 APN 8 69866566 missense probably damaging 1.00
IGL03358:Pbx4 APN 8 69859111 missense probably benign 0.00
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 splice site 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
R8237:Pbx4 UTSW 8 69864443 missense probably benign 0.02
Z1177:Pbx4 UTSW 8 69832668 unclassified probably benign
Posted On2016-08-02