Incidental Mutation 'IGL02256:Pbx1'
ID 286595
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02256
Quality Score
Status
Chromosome 1
Chromosomal Location 167946933-168259839 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 168011171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 376 (H376Q)
Ref Sequence ENSEMBL: ENSMUSP00000135516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064438] [ENSMUST00000072863] [ENSMUST00000176540] [ENSMUST00000176790] [ENSMUST00000188912]
AlphaFold P41778
Predicted Effect probably benign
Transcript: ENSMUST00000064438
AA Change: H285Q

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000066385
Gene: ENSMUSG00000052534
AA Change: H285Q

DomainStartEndE-ValueType
Pfam:PBC 35 232 2e-106 PFAM
HOX 233 290 5.15e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000072863
AA Change: C339S

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000072640
Gene: ENSMUSG00000052534
AA Change: C339S

DomainStartEndE-ValueType
Pfam:PBC 35 232 2.1e-106 PFAM
HOX 233 298 6.17e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000176540
AA Change: H376Q

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135516
Gene: ENSMUSG00000052534
AA Change: H376Q

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 possibly damaging
Transcript: ENSMUST00000176790
AA Change: C339S

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134925
Gene: ENSMUSG00000052534
AA Change: C339S

DomainStartEndE-ValueType
Pfam:PBC 35 232 2.1e-106 PFAM
HOX 233 298 6.17e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000188912
AA Change: C339S

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140606
Gene: ENSMUSG00000052534
AA Change: C339S

DomainStartEndE-ValueType
Pfam:PBC 35 232 2.1e-106 PFAM
HOX 233 298 6.17e-18 SMART
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambra1 T A 2: 91,599,399 (GRCm39) V173E possibly damaging Het
Dennd4c A G 4: 86,717,778 (GRCm39) T592A probably damaging Het
Dhcr24 G A 4: 106,429,517 (GRCm39) G197S probably damaging Het
Fat1 A G 8: 45,403,369 (GRCm39) Y40C probably damaging Het
Fbxl17 A C 17: 63,806,085 (GRCm39) C310G probably benign Het
H2bc8 G T 13: 23,755,609 (GRCm39) M1I probably null Het
Hdac10 T C 15: 89,010,097 (GRCm39) probably benign Het
Mcm6 A G 1: 128,263,465 (GRCm39) probably null Het
Mrpl19 G A 6: 81,941,300 (GRCm39) T87I probably benign Het
Mzf1 A G 7: 12,786,664 (GRCm39) probably benign Het
Nhlrc2 A G 19: 56,585,793 (GRCm39) E676G probably benign Het
Notch3 T C 17: 32,351,298 (GRCm39) D1899G probably damaging Het
Nxph1 A G 6: 9,247,185 (GRCm39) D52G probably benign Het
Or10g9b A G 9: 39,917,349 (GRCm39) F299L probably benign Het
Or10j2 A T 1: 173,098,194 (GRCm39) I151F probably benign Het
Or2aj6 T C 16: 19,443,756 (GRCm39) I31M probably benign Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or8b3b A T 9: 38,584,776 (GRCm39) M1K probably null Het
Or8b49 G A 9: 38,505,840 (GRCm39) V108I probably benign Het
Pax6 T C 2: 105,515,115 (GRCm39) V54A probably benign Het
Prpf4b T A 13: 35,083,861 (GRCm39) C877S probably damaging Het
Robo3 A G 9: 37,336,649 (GRCm39) L373P probably damaging Het
Samd9l G A 6: 3,376,197 (GRCm39) R355W probably damaging Het
Smarce1 A T 11: 99,110,206 (GRCm39) N127K possibly damaging Het
Sptbn1 T C 11: 30,070,990 (GRCm39) I1511V probably benign Het
Stab1 C T 14: 30,863,549 (GRCm39) R2071H probably damaging Het
Svep1 A T 4: 58,070,311 (GRCm39) C2492S possibly damaging Het
Tbr1 C A 2: 61,635,218 (GRCm39) T56N probably damaging Het
Thoc2l T A 5: 104,668,149 (GRCm39) Y890* probably null Het
Tlr6 T C 5: 65,112,287 (GRCm39) T207A probably benign Het
Tmem241 A G 18: 12,246,489 (GRCm39) W54R probably damaging Het
Tmem87a A G 2: 120,208,377 (GRCm39) V326A probably damaging Het
Trappc14 C A 5: 138,258,577 (GRCm39) D557Y probably damaging Het
Uroc1 A G 6: 90,323,669 (GRCm39) D372G possibly damaging Het
Zc3h7a A C 16: 10,965,140 (GRCm39) S664R probably benign Het
Other mutations in Pbx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01530:Pbx1 APN 1 168,018,873 (GRCm39) missense probably benign 0.00
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
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
Posted On 2015-04-16