Incidental Mutation 'R3552:Pbx1'
ID 268967
Institutional Source Beutler Lab
Gene Symbol Pbx1
Ensembl Gene ENSMUSG00000052534
Gene Name pre B cell leukemia homeobox 1
Synonyms Pbx1a, Pbx1b, 2310056B04Rik, Pbx-1, D230003C07Rik
MMRRC Submission 040669-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3552 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 167946933-168259839 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 167986362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 411 (P411L)
Ref Sequence ENSEMBL: ENSMUSP00000135516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064438] [ENSMUST00000176540] [ENSMUST00000176790] [ENSMUST00000188912]
AlphaFold P41778
Predicted Effect probably benign
Transcript: ENSMUST00000064438
AA Change: P320L

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000066385
Gene: ENSMUSG00000052534
AA Change: P320L

DomainStartEndE-ValueType
Pfam:PBC 35 232 2e-106 PFAM
HOX 233 290 5.15e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000097471
Predicted Effect possibly damaging
Transcript: ENSMUST00000176540
AA Change: P411L

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135516
Gene: ENSMUSG00000052534
AA Change: P411L

DomainStartEndE-ValueType
low complexity region 29 38 N/A INTRINSIC
Pfam:PBC 40 232 6.9e-98 PFAM
HOX 233 298 6.17e-18 SMART
low complexity region 323 344 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176790
SMART Domains Protein: ENSMUSP00000134925
Gene: ENSMUSG00000052534

DomainStartEndE-ValueType
Pfam:PBC 35 232 2.1e-106 PFAM
HOX 233 298 6.17e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188912
SMART Domains Protein: ENSMUSP00000140606
Gene: ENSMUSG00000052534

DomainStartEndE-ValueType
Pfam:PBC 35 232 2.1e-106 PFAM
HOX 233 298 6.17e-18 SMART
Meta Mutation Damage Score 0.1501 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency 100% (66/66)
MGI Phenotype FUNCTION: This gene encodes a homeobox protein that belongs to the three-amino-acid loop extension/Pre-B cell leukemia transcription factor (TALE/PBX) family of proteins. The encoded protein is involved in several biological processes during embryogenesis including steroidogenesis, sexual development and the maintenance of hematopoietic stem cells. This protein functions in the development of several organ systems and plays a role in skeletal patterning and programming. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous disruption of this gene causes late gestational death, hypoplasia/aplasia of many organs, impaired hematopoiesis, anemia, skin edema, axial and appendicular skeleton defects, absent adrenal glands, abnormal chondrocyte differentiation, and abnormal bone, kidney and pancreas development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,152,450 (GRCm39) Y866N probably damaging Het
Agk A G 6: 40,371,615 (GRCm39) T371A probably benign Het
Akna T C 4: 63,316,361 (GRCm39) M1V probably null Het
Aldh7a1 T C 18: 56,683,364 (GRCm39) probably null Het
Ankrd26 A T 6: 118,484,737 (GRCm39) L1500H probably damaging Het
Atp13a5 T A 16: 29,129,584 (GRCm39) D452V probably damaging Het
Bahcc1 C T 11: 120,167,598 (GRCm39) T1333M possibly damaging Het
Carmil3 G T 14: 55,744,859 (GRCm39) R1276L possibly damaging Het
Ccni T C 5: 93,335,620 (GRCm39) S173G probably benign Het
Chrm2 A T 6: 36,500,745 (GRCm39) I201F probably damaging Het
Col16a1 A G 4: 129,970,834 (GRCm39) T618A probably benign Het
Dele1 A G 18: 38,391,418 (GRCm39) probably benign Het
Dock2 T C 11: 34,611,787 (GRCm39) Y192C probably benign Het
Ep400 T A 5: 110,877,153 (GRCm39) E821V unknown Het
Esrrg G A 1: 187,882,387 (GRCm39) V215I probably benign Het
Evx1 A T 6: 52,293,908 (GRCm39) S359C probably damaging Het
Fcrl2 A G 3: 87,166,717 (GRCm39) I92T possibly damaging Het
Gal3st1 T A 11: 3,948,110 (GRCm39) F106I possibly damaging Het
Gm9944 T C 4: 144,179,613 (GRCm39) probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hrc G C 7: 44,985,757 (GRCm39) E303Q possibly damaging Het
Kcnh1 A G 1: 191,921,074 (GRCm39) N118D probably damaging Het
Khdrbs1 A G 4: 129,614,584 (GRCm39) I323T possibly damaging Het
Klhdc7b T C 15: 89,271,724 (GRCm39) Y869H probably benign Het
Lrrc4c T A 2: 97,460,306 (GRCm39) W311R probably damaging Het
Megf11 A G 9: 64,602,745 (GRCm39) D862G possibly damaging Het
Muc5b A G 7: 141,415,072 (GRCm39) T2673A possibly damaging Het
Muc5b A G 7: 141,421,442 (GRCm39) S4311G probably benign Het
Myo15a C T 11: 60,400,489 (GRCm39) A1767V possibly damaging Het
Neo1 T A 9: 58,801,161 (GRCm39) K1140M probably damaging Het
Oc90 T C 15: 65,750,650 (GRCm39) Q365R possibly damaging Het
Oplah C T 15: 76,186,294 (GRCm39) D734N possibly damaging Het
Or1e19 T C 11: 73,316,678 (GRCm39) I44V probably benign Het
Or4c58 A C 2: 89,674,687 (GRCm39) M210R possibly damaging Het
Or9g3 T C 2: 85,590,237 (GRCm39) N161S possibly damaging Het
Pcdhga6 G T 18: 37,841,270 (GRCm39) R330L probably benign Het
Phox2b C A 5: 67,254,999 (GRCm39) R150L probably damaging Het
Plscr2 A G 9: 92,172,848 (GRCm39) E169G probably damaging Het
Ptprn2 A T 12: 116,852,497 (GRCm39) Q518L probably benign Het
Rbl1 A T 2: 157,037,505 (GRCm39) I214K probably benign Het
Ryr1 T A 7: 28,756,422 (GRCm39) Q3464L probably damaging Het
Ryr3 T A 2: 112,582,132 (GRCm39) I2854F probably damaging Het
Shtn1 T C 19: 58,963,470 (GRCm39) Y615C probably benign Het
Sirt5 A T 13: 43,536,643 (GRCm39) N226Y probably damaging Het
Slc30a3 G A 5: 31,252,422 (GRCm39) probably benign Het
Slc5a4b A G 10: 75,917,358 (GRCm39) V226A probably damaging Het
Slf2 C A 19: 44,923,390 (GRCm39) S68* probably null Het
Smyd5 G A 6: 85,419,193 (GRCm39) E292K probably damaging Het
Spns1 A G 7: 125,969,543 (GRCm39) V512A possibly damaging Het
Sry T A Y: 2,663,141 (GRCm39) Q173L unknown Het
Ssrp1 C A 2: 84,874,736 (GRCm39) Q519K probably benign Het
Tgfbr3 T C 5: 107,287,705 (GRCm39) E498G probably damaging Het
Tnrc6b T G 15: 80,764,448 (GRCm39) L650W probably damaging Het
Tnxb A T 17: 34,937,695 (GRCm39) E3861D probably damaging Het
Trbc1 G T 6: 41,516,579 (GRCm39) probably benign Het
Trpm7 T A 2: 126,668,630 (GRCm39) probably benign Het
Usp39 G A 6: 72,314,815 (GRCm39) T197I possibly damaging Het
Vmn1r38 T C 6: 66,753,477 (GRCm39) H213R possibly damaging Het
Washc2 A G 6: 116,197,529 (GRCm39) D168G probably damaging Het
Washc4 A G 10: 83,382,720 (GRCm39) I45V probably benign Het
Zfp352 A G 4: 90,113,339 (GRCm39) E493G probably benign Het
Zfp692 C T 11: 58,200,254 (GRCm39) T170I possibly damaging Het
Zfp735 C A 11: 73,602,067 (GRCm39) S337* probably null Het
Other mutations in Pbx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01530:Pbx1 APN 1 168,018,873 (GRCm39) missense probably benign 0.00
IGL02256:Pbx1 APN 1 168,011,171 (GRCm39) missense possibly damaging 0.88
IGL03040:Pbx1 APN 1 168,255,515 (GRCm39) splice site probably benign
root_cause UTSW 1 168,037,103 (GRCm39) missense probably damaging 1.00
R0240:Pbx1 UTSW 1 168,031,051 (GRCm39) missense possibly damaging 0.88
R0240:Pbx1 UTSW 1 168,031,051 (GRCm39) missense possibly damaging 0.88
R0947:Pbx1 UTSW 1 168,030,935 (GRCm39) missense probably damaging 1.00
R1785:Pbx1 UTSW 1 168,258,947 (GRCm39) missense probably benign 0.09
R1893:Pbx1 UTSW 1 168,030,979 (GRCm39) missense possibly damaging 0.91
R4176:Pbx1 UTSW 1 168,018,841 (GRCm39) splice site probably null
R4757:Pbx1 UTSW 1 168,023,450 (GRCm39) missense probably damaging 1.00
R5024:Pbx1 UTSW 1 168,011,158 (GRCm39) missense possibly damaging 0.93
R6102:Pbx1 UTSW 1 168,011,134 (GRCm39) missense probably benign 0.05
R6296:Pbx1 UTSW 1 168,011,184 (GRCm39) missense possibly damaging 0.71
R6302:Pbx1 UTSW 1 168,018,910 (GRCm39) missense probably benign
R6488:Pbx1 UTSW 1 168,018,964 (GRCm39) missense probably damaging 1.00
R6501:Pbx1 UTSW 1 168,037,103 (GRCm39) missense probably damaging 1.00
R7014:Pbx1 UTSW 1 168,258,949 (GRCm39) missense probably damaging 0.98
R7070:Pbx1 UTSW 1 168,023,337 (GRCm39) missense probably damaging 0.98
R7677:Pbx1 UTSW 1 168,030,995 (GRCm39) missense probably damaging 0.99
R7898:Pbx1 UTSW 1 168,012,616 (GRCm39) missense probably benign 0.12
R9374:Pbx1 UTSW 1 168,258,910 (GRCm39) missense possibly damaging 0.91
R9551:Pbx1 UTSW 1 168,258,910 (GRCm39) missense possibly damaging 0.91
R9552:Pbx1 UTSW 1 168,258,910 (GRCm39) missense possibly damaging 0.91
X0024:Pbx1 UTSW 1 168,258,934 (GRCm39) nonsense probably null
X0027:Pbx1 UTSW 1 168,011,181 (GRCm39) missense possibly damaging 0.81
Z1189:Pbx1 UTSW 1 168,012,524 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CTGATTGCTTCGACCTCCAG -3'
(R):5'- TCCAAAGGCTCTCTGGAAAATG -3'

Sequencing Primer
(F):5'- TCGACCTCCAGTCTGACCG -3'
(R):5'- GGCTCTCTGGAAAATGAACTCATCTG -3'
Posted On 2015-02-19