Incidental Mutation 'R4176:Pbx1'
ID 319493
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 041014-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4176 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 167946933-168259839 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to G at 168018841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064438] [ENSMUST00000072863] [ENSMUST00000176540] [ENSMUST00000176790] [ENSMUST00000188912]
AlphaFold P41778
Predicted Effect probably benign
Transcript: ENSMUST00000064438
SMART Domains Protein: ENSMUSP00000066385
Gene: ENSMUSG00000052534

DomainStartEndE-ValueType
Pfam:PBC 35 232 2e-106 PFAM
HOX 233 290 5.15e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000072863
SMART Domains Protein: ENSMUSP00000072640
Gene: ENSMUSG00000052534

DomainStartEndE-ValueType
Pfam:PBC 35 232 2.1e-106 PFAM
HOX 233 298 6.17e-18 SMART
Predicted Effect probably null
Transcript: ENSMUST00000176540
SMART Domains Protein: ENSMUSP00000135516
Gene: ENSMUSG00000052534

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 null
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 null
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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,522,000 (GRCm39) E1274G possibly damaging Het
Abi3bp A G 16: 56,472,563 (GRCm39) E424G probably damaging Het
Ankrd10 A G 8: 11,662,644 (GRCm39) I363T probably benign Het
Ankrd12 A T 17: 66,334,361 (GRCm39) N204K probably damaging Het
Brca2 C A 5: 150,463,098 (GRCm39) S954* probably null Het
Col11a1 A C 3: 114,001,872 (GRCm39) D432A possibly damaging Het
Dagla G T 19: 10,240,461 (GRCm39) D256E probably damaging Het
Dsg2 T A 18: 20,713,720 (GRCm39) F230L probably benign Het
Elp5 T C 11: 69,861,388 (GRCm39) Q197R probably null Het
Emilin2 A T 17: 71,581,258 (GRCm39) D489E probably benign Het
Entrep3 T C 3: 89,091,754 (GRCm39) V87A probably damaging Het
Ermp1 A G 19: 29,623,365 (GRCm39) probably null Het
Fam149a A G 8: 45,794,321 (GRCm39) Y614H probably benign Het
Fnbp1 T C 2: 30,926,131 (GRCm39) probably null Het
Gabrb3 T C 7: 57,241,061 (GRCm39) F13S probably benign Het
Hydin G A 8: 111,320,452 (GRCm39) A4499T probably benign Het
Islr2 A T 9: 58,107,183 (GRCm39) C26S probably damaging Het
Jup T A 11: 100,263,287 (GRCm39) D696V probably benign Het
Kcnq5 A C 1: 21,605,392 (GRCm39) V171G probably damaging Het
Kntc1 T G 5: 123,914,680 (GRCm39) S667A possibly damaging Het
Loxhd1 A G 18: 77,418,755 (GRCm39) T293A possibly damaging Het
Lrp1b C A 2: 41,298,405 (GRCm39) C138F probably damaging Het
Lrrc37 T A 11: 103,427,426 (GRCm39) H1388L unknown Het
Mctp2 A G 7: 71,909,085 (GRCm39) I76T probably benign Het
Or2z8 A G 8: 72,812,028 (GRCm39) Y168C probably damaging Het
Or5k16 T C 16: 58,736,947 (GRCm39) D19G probably benign Het
Pelp1 A T 11: 70,287,693 (GRCm39) W410R probably damaging Het
Phaf1 T C 8: 105,967,763 (GRCm39) L218P probably benign Het
Pkd1 T C 17: 24,806,971 (GRCm39) L3482P probably benign Het
Plekhn1 C T 4: 156,306,258 (GRCm39) G604E probably benign Het
Ptpn22 A G 3: 103,793,561 (GRCm39) T571A probably benign Het
Qrsl1 A T 10: 43,760,828 (GRCm39) S252T probably damaging Het
Rab3gap2 T A 1: 184,978,863 (GRCm39) M280K probably damaging Het
Serpinh1 T C 7: 98,996,206 (GRCm39) M293V probably benign Het
Six4 G A 12: 73,155,605 (GRCm39) T454I probably damaging Het
Slc26a8 T A 17: 28,866,973 (GRCm39) E585D probably benign Het
Slc34a2 T G 5: 53,224,910 (GRCm39) C350W probably damaging Het
Slit2 T A 5: 48,394,586 (GRCm39) probably null Het
Trip11 G A 12: 101,861,957 (GRCm39) Q203* probably null Het
Trpm7 T C 2: 126,671,083 (GRCm39) K633R possibly damaging Het
Usp38 A C 8: 81,719,928 (GRCm39) S434A probably benign Het
Zbtb16 A G 9: 48,571,101 (GRCm39) F555S probably damaging Het
Zfp141 A T 7: 42,125,705 (GRCm39) S256T probably benign 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
R3552:Pbx1 UTSW 1 167,986,362 (GRCm39) missense possibly damaging 0.88
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'- TTGCAGACAGCCCCACCTTA -3'
(R):5'- GCTGAAGAGCTAATTCTCCCT -3'

Sequencing Primer
(F):5'- CCTTAAAAAGCACACTGTCCTTTGG -3'
(R):5'- TCTCCTGCTGCTCTAGGTATCAAAC -3'
Posted On 2015-06-10