Incidental Mutation 'R8237:Pbx4'
ID 637418
Institutional Source Beutler Lab
Gene Symbol Pbx4
Ensembl Gene ENSMUSG00000031860
Gene Name pre B cell leukemia homeobox 4
Synonyms 2410015M21Rik
MMRRC Submission 067669-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.430) question?
Stock # R8237 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 70285141-70324942 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70317093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 117 (T117A)
Ref Sequence ENSEMBL: ENSMUSP00000080219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081503] [ENSMUST00000131637] [ENSMUST00000132899] [ENSMUST00000134777] [ENSMUST00000156319]
AlphaFold Q99NE9
Predicted Effect probably benign
Transcript: ENSMUST00000081503
AA Change: T117A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000080219
Gene: ENSMUSG00000031860
AA Change: T117A

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 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 probably benign
Transcript: ENSMUST00000156319
SMART Domains Protein: ENSMUSP00000119526
Gene: ENSMUSG00000031860

DomainStartEndE-ValueType
Pfam:PBC 19 75 1.3e-25 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.2%
Validation Efficiency 100% (57/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,771,373 (GRCm39) L285P probably damaging Het
Abca4 T C 3: 121,955,952 (GRCm39) I1905T probably benign Het
Abca5 A T 11: 110,200,981 (GRCm39) I473K probably benign Het
Adgrl3 CAA CA 5: 81,935,408 (GRCm39) probably null Het
Ap2a1 C A 7: 44,550,220 (GRCm39) R959L probably damaging Het
Birc6 G C 17: 74,918,126 (GRCm39) L1845F probably damaging Het
Cbs T C 17: 31,834,454 (GRCm39) I512V probably benign Het
Ccn4 C A 15: 66,791,083 (GRCm39) T295N probably benign Het
Ceacam3 T C 7: 16,897,082 (GRCm39) Y683H Het
Chd8 C T 14: 52,450,809 (GRCm39) S1426N probably damaging Het
Cog8 T C 8: 107,782,923 (GRCm39) D122G probably benign Het
Crybg1 G A 10: 43,842,376 (GRCm39) Q1772* probably null Het
Cspg4 T C 9: 56,799,964 (GRCm39) F1576S probably damaging Het
Ctse T A 1: 131,590,467 (GRCm39) V63E probably benign Het
Dnah3 G T 7: 119,525,636 (GRCm39) T3917N probably benign Het
Dst C T 1: 34,208,874 (GRCm39) T1124M possibly damaging Het
Fkbp10 A G 11: 100,306,785 (GRCm39) Q59R probably damaging Het
Fsip1 A G 2: 118,063,483 (GRCm39) S329P probably damaging Het
Ginm1 G T 10: 7,668,419 (GRCm39) S56R unknown Het
Gm10110 C T 14: 90,135,677 (GRCm39) V76M noncoding transcript Het
Gm6401 T A 14: 41,787,452 (GRCm39) I125F probably damaging Het
Helz2 T C 2: 180,871,124 (GRCm39) D2815G possibly damaging Het
Hes1 T C 16: 29,886,047 (GRCm39) V217A probably damaging Het
Hsd3b1 C T 3: 98,760,426 (GRCm39) M188I possibly damaging Het
Ighv1-75 T C 12: 115,797,876 (GRCm39) probably benign Het
Itprid2 T C 2: 79,487,614 (GRCm39) S566P probably benign Het
Kif1b T A 4: 149,275,642 (GRCm39) N1423I probably benign Het
Lmntd1 G A 6: 145,373,146 (GRCm39) T129M probably damaging Het
Lonrf2 T A 1: 38,839,854 (GRCm39) T414S probably benign Het
Lrp1b T C 2: 40,741,786 (GRCm39) D3161G Het
Lyst T C 13: 13,826,317 (GRCm39) I1608T probably benign Het
Map9 C T 3: 82,284,467 (GRCm39) P347L probably damaging Het
Mixl1 G A 1: 180,524,322 (GRCm39) Q86* probably null Het
Muc5b T C 7: 141,411,697 (GRCm39) S1548P unknown Het
Myo15b A G 11: 115,767,827 (GRCm39) K1376E Het
Nlrc5 A G 8: 95,252,753 (GRCm39) T105A unknown Het
Npepps A G 11: 97,139,026 (GRCm39) probably null Het
Nup205 T A 6: 35,204,438 (GRCm39) F1441L possibly damaging Het
Or5p69 A C 7: 107,967,234 (GRCm39) H179P probably damaging Het
Phf2 T A 13: 48,976,514 (GRCm39) T234S unknown Het
Pik3r2 G A 8: 71,224,794 (GRCm39) A194V probably benign Het
Plaat1 C A 16: 29,039,106 (GRCm39) T62K probably benign Het
Plbd2 T C 5: 120,637,114 (GRCm39) D116G probably damaging Het
Plpp2 G A 10: 79,363,294 (GRCm39) A235V possibly damaging Het
Prkce G T 17: 86,866,646 (GRCm39) R502L probably damaging Het
Psrc1 C T 3: 108,293,930 (GRCm39) A249V probably damaging Het
Ptdss1 T C 13: 67,124,841 (GRCm39) C347R probably damaging Het
Serpina1b C A 12: 103,785,063 (GRCm39) probably null Het
Spcs1 C G 14: 30,722,658 (GRCm39) A113P noncoding transcript Het
Stxbp2 C T 8: 3,685,695 (GRCm39) T247M Het
Tex15 A G 8: 34,067,427 (GRCm39) T2286A possibly damaging Het
Usp45 T G 4: 21,834,274 (GRCm39) V736G probably damaging Het
Vmn2r69 A G 7: 85,060,340 (GRCm39) S415P probably benign Het
Zfp407 T C 18: 84,578,269 (GRCm39) E948G possibly damaging Het
Zfp942 A T 17: 22,147,226 (GRCm39) C468S possibly damaging Het
Zmym6 A G 4: 127,016,544 (GRCm39) E775G probably damaging Het
Zranb2 A G 3: 157,250,677 (GRCm39) R283G probably null Het
Other mutations in Pbx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02900:Pbx4 APN 8 70,319,216 (GRCm39) missense probably damaging 1.00
IGL03274:Pbx4 APN 8 70,319,200 (GRCm39) missense probably damaging 1.00
IGL03358:Pbx4 APN 8 70,311,761 (GRCm39) missense probably benign 0.00
R0513:Pbx4 UTSW 8 70,317,529 (GRCm39) missense probably benign 0.01
R1980:Pbx4 UTSW 8 70,322,776 (GRCm39) missense probably benign 0.00
R4738:Pbx4 UTSW 8 70,317,619 (GRCm39) missense probably damaging 1.00
R5366:Pbx4 UTSW 8 70,322,820 (GRCm39) missense probably benign 0.26
R6365:Pbx4 UTSW 8 70,324,857 (GRCm39) splice site probably null
R6372:Pbx4 UTSW 8 70,324,694 (GRCm39) missense possibly damaging 0.93
R7037:Pbx4 UTSW 8 70,317,525 (GRCm39) missense probably damaging 1.00
R7585:Pbx4 UTSW 8 70,285,475 (GRCm39) missense probably damaging 0.99
R7760:Pbx4 UTSW 8 70,285,445 (GRCm39) missense probably benign 0.39
R9025:Pbx4 UTSW 8 70,317,097 (GRCm39) missense probably benign 0.30
R9027:Pbx4 UTSW 8 70,316,999 (GRCm39) missense possibly damaging 0.85
Z1177:Pbx4 UTSW 8 70,285,318 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TAAGTGATGCCCAGCCATG -3'
(R):5'- GGAGCTCATGTCCACATCTG -3'

Sequencing Primer
(F):5'- ATGGTGCCAGTGCCACTTG -3'
(R):5'- CACATCTGTCTGTGGCCAGTG -3'
Posted On 2020-07-13