Incidental Mutation 'R7677:Pbx1'
ID 592482
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7677 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 167946933-168259839 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 168030995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 208 (F208I)
Ref Sequence ENSEMBL: ENSMUSP00000135516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064438] [ENSMUST00000072863] [ENSMUST00000176540] [ENSMUST00000176790] [ENSMUST00000188912]
AlphaFold P41778
Predicted Effect probably damaging
Transcript: ENSMUST00000064438
AA Change: F208I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066385
Gene: ENSMUSG00000052534
AA Change: F208I

DomainStartEndE-ValueType
Pfam:PBC 35 232 2e-106 PFAM
HOX 233 290 5.15e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000072863
AA Change: F208I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072640
Gene: ENSMUSG00000052534
AA Change: F208I

DomainStartEndE-ValueType
Pfam:PBC 35 232 2.1e-106 PFAM
HOX 233 298 6.17e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176540
AA Change: F208I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135516
Gene: ENSMUSG00000052534
AA Change: F208I

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 damaging
Transcript: ENSMUST00000176790
AA Change: F208I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134925
Gene: ENSMUSG00000052534
AA Change: F208I

DomainStartEndE-ValueType
Pfam:PBC 35 232 2.1e-106 PFAM
HOX 233 298 6.17e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188912
AA Change: F208I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140606
Gene: ENSMUSG00000052534
AA Change: F208I

DomainStartEndE-ValueType
Pfam:PBC 35 232 2.1e-106 PFAM
HOX 233 298 6.17e-18 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,248,349 (GRCm39) R2699* probably null Het
Adra2a G A 19: 54,035,375 (GRCm39) V244M probably damaging Het
Apba2 A G 7: 64,344,845 (GRCm39) S12G probably benign Het
Arhgap20 T A 9: 51,751,698 (GRCm39) M383K probably damaging Het
Armc12 T C 17: 28,756,865 (GRCm39) V210A probably benign Het
Ash1l A T 3: 88,950,500 (GRCm39) H2131L probably damaging Het
Atg5 T C 10: 44,223,035 (GRCm39) L219P probably damaging Het
Atp2c2 A T 8: 120,474,915 (GRCm39) M507L probably benign Het
Atr T A 9: 95,767,515 (GRCm39) L1191I probably damaging Het
B4galt5 T C 2: 167,146,998 (GRCm39) T279A probably damaging Het
Bglap2 T C 3: 88,285,280 (GRCm39) E62G probably damaging Het
Card6 A G 15: 5,127,926 (GRCm39) S1157P unknown Het
Ccdc17 T C 4: 116,454,962 (GRCm39) probably null Het
Cdc6 T A 11: 98,810,191 (GRCm39) L500* probably null Het
Dst G T 1: 34,208,403 (GRCm39) probably null Het
Fbxw7 C T 3: 84,811,373 (GRCm39) T166I Het
Fer1l6 T C 15: 58,474,139 (GRCm39) V955A probably benign Het
Fezf2 T C 14: 12,344,941 (GRCm38) E82G probably benign Het
Flii T C 11: 60,610,971 (GRCm39) D486G probably damaging Het
Fndc3a T C 14: 72,804,854 (GRCm39) T476A probably benign Het
Gbp3 C T 3: 142,266,264 (GRCm39) probably benign Het
Hebp2 T C 10: 18,421,547 (GRCm39) probably benign Het
Hhipl2 T A 1: 183,204,951 (GRCm39) M88K possibly damaging Het
Hip1 A G 5: 135,459,171 (GRCm39) C605R probably benign Het
Hoxd13 T C 2: 74,498,909 (GRCm39) S86P probably benign Het
Hspa12a G T 19: 58,849,317 (GRCm39) A2E probably benign Het
Il1rl1 A C 1: 40,485,864 (GRCm39) *338C probably null Het
Lrrc37a G T 11: 103,390,464 (GRCm39) P1654T probably benign Het
Mybpc3 A T 2: 90,959,376 (GRCm39) D704V probably benign Het
Napsa A T 7: 44,231,130 (GRCm39) K120* probably null Het
Nat3 A C 8: 68,000,139 (GRCm39) Y6S probably damaging Het
Negr1 C T 3: 156,774,823 (GRCm39) Q180* probably null Het
Nynrin T A 14: 56,107,693 (GRCm39) D933E probably benign Het
Or10al3 T A 17: 38,011,957 (GRCm39) I132K probably damaging Het
Or10c1 A T 17: 37,522,386 (GRCm39) Y119* probably null Het
Or2l5 G A 16: 19,333,678 (GRCm39) A236V probably benign Het
Or6k2 A T 1: 173,986,614 (GRCm39) I92F probably damaging Het
Or8b1c T A 9: 38,384,831 (GRCm39) S263T possibly damaging Het
Or8c16 T A 9: 38,130,324 (GRCm39) N65K probably damaging Het
Or9s23 C T 1: 92,500,983 (GRCm39) T30I not run Het
Pcdha11 T C 18: 37,144,605 (GRCm39) V232A probably damaging Het
Pcsk5 A G 19: 17,558,593 (GRCm39) Y605H possibly damaging Het
Pde3a T A 6: 141,195,983 (GRCm39) L223Q probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pitpnm2 G A 5: 124,261,632 (GRCm39) R977C probably damaging Het
Pkdrej A C 15: 85,699,788 (GRCm39) D2049E probably benign Het
Psmd6 T C 14: 14,120,837 (GRCm38) D16G probably benign Het
Pth2r C A 1: 65,427,605 (GRCm39) T426N probably benign Het
Ralgapa1 G T 12: 55,705,928 (GRCm39) L1865M probably damaging Het
Ryr3 T A 2: 112,664,245 (GRCm39) Q1702L probably benign Het
Sars2 A G 7: 28,446,176 (GRCm39) Y135C probably benign Het
Sdha G A 13: 74,481,172 (GRCm39) R345* probably null Het
Selp A T 1: 163,961,525 (GRCm39) S413C probably damaging Het
Sirt2 G A 7: 28,484,835 (GRCm39) C221Y probably damaging Het
Skic2 A T 17: 35,067,140 (GRCm39) S100T probably benign Het
Socs7 C A 11: 97,280,468 (GRCm39) Q566K probably benign Het
Spdye4c G A 2: 128,436,056 (GRCm39) V151M probably benign Het
Srcap A G 7: 127,158,980 (GRCm39) D2952G unknown Het
Srd5a2 A T 17: 74,354,749 (GRCm39) L25Q probably damaging Het
Srrt A T 5: 137,298,410 (GRCm39) V254D probably damaging Het
Tap2 T C 17: 34,424,494 (GRCm39) F76L probably benign Het
Tdpoz4 T A 3: 93,704,815 (GRCm39) *371R probably null Het
Tm9sf3 A T 19: 41,209,743 (GRCm39) F441I probably damaging Het
Tmem259 C T 10: 79,814,414 (GRCm39) R314Q probably damaging Het
Trim28 G T 7: 12,762,040 (GRCm39) R312L possibly damaging Het
Tsc1 A G 2: 28,562,829 (GRCm39) T393A probably benign Het
Txndc11 CCCGCCGCCGCCGCCGC CCCGCCGCCGCCGC 16: 10,952,338 (GRCm39) probably benign Het
Ube2v2 T C 16: 15,398,964 (GRCm39) T42A probably benign Het
Vmn2r-ps158 A C 7: 42,674,163 (GRCm39) H414P probably damaging Het
Zfp609 A T 9: 65,604,456 (GRCm39) S1342R possibly damaging Het
Zg16 A T 7: 126,649,763 (GRCm39) V66E probably damaging 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
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
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'- CTTAGACCTTCACACAAGCTAGTG -3'
(R):5'- GTGGACTCTGTTTGCCAAGC -3'

Sequencing Primer
(F):5'- TCAATGCAGAAGAATTGAAGCTTTGG -3'
(R):5'- GCCAAGCCAGATATTTCAGTTC -3'
Posted On 2019-11-12