Incidental Mutation 'R6102:Pbx1'
ID 485285
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 044252-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6102 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 167946933-168259839 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 168011134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 298 (A298S)
Ref Sequence ENSEMBL: ENSMUSP00000066385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064438] [ENSMUST00000072863] [ENSMUST00000176540] [ENSMUST00000176790] [ENSMUST00000188912]
AlphaFold P41778
Predicted Effect probably benign
Transcript: ENSMUST00000064438
AA Change: A298S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000066385
Gene: ENSMUSG00000052534
AA Change: A298S

DomainStartEndE-ValueType
Pfam:PBC 35 232 2e-106 PFAM
HOX 233 290 5.15e-4 SMART
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000176540
AA Change: A389S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135516
Gene: ENSMUSG00000052534
AA Change: A389S

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 0.0582 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 97% (65/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e A G 11: 70,210,849 (GRCm39) I290T possibly damaging Het
Apeh T A 9: 107,963,638 (GRCm39) D559V probably damaging Het
Aspm T A 1: 139,405,197 (GRCm39) Y1361* probably null Het
Atad5 G T 11: 80,002,398 (GRCm39) probably null Het
Ccr4 C T 9: 114,325,561 (GRCm39) probably null Het
Clasrp G A 7: 19,320,393 (GRCm39) probably benign Het
Cldn23 A G 8: 36,292,705 (GRCm39) M261T probably benign Het
Cmya5 T C 13: 93,230,739 (GRCm39) M1450V probably benign Het
Cyp4v3 T A 8: 45,773,197 (GRCm39) E202V probably damaging Het
Dnah7a A T 1: 53,598,299 (GRCm39) V1412E probably benign Het
Dnah9 A G 11: 65,881,342 (GRCm39) S2578P probably damaging Het
Dsc2 T A 18: 20,180,165 (GRCm39) Y196F probably benign Het
Exoc1 T C 5: 76,685,626 (GRCm39) S113P probably damaging Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Frs3 C T 17: 48,013,596 (GRCm39) H173Y probably damaging Het
Ginm1 G T 10: 7,644,260 (GRCm39) T323K probably benign Het
Golgb1 T C 16: 36,733,227 (GRCm39) S825P probably damaging Het
Hs3st3b1 A T 11: 63,812,681 (GRCm39) C11* probably null Het
Ighv3-3 G C 12: 114,160,080 (GRCm39) A110G possibly damaging Het
Igkv6-20 G A 6: 70,312,853 (GRCm39) H107Y probably benign Het
Kcnj16 A G 11: 110,916,403 (GRCm39) E355G probably benign Het
Lig4 C T 8: 10,022,872 (GRCm39) G303S probably damaging Het
Map1b A C 13: 99,562,381 (GRCm39) V2443G unknown Het
Map3k6 T C 4: 132,974,442 (GRCm39) probably null Het
Mmp13 A G 9: 7,276,688 (GRCm39) Q261R probably benign Het
Mphosph9 T A 5: 124,435,772 (GRCm39) I554F possibly damaging Het
Mrgpra3 A T 7: 47,239,897 (GRCm39) F10I possibly damaging Het
Ms4a18 G A 19: 10,990,887 (GRCm39) T69I probably benign Het
Mtmr3 T C 11: 4,437,673 (GRCm39) N927S probably damaging Het
Necab1 T A 4: 14,989,211 (GRCm39) Q188L probably benign Het
Nfatc2 A G 2: 168,361,427 (GRCm39) probably benign Het
Or5i1 T C 2: 87,613,192 (GRCm39) F103L probably damaging Het
Or5p70 T C 7: 107,994,491 (GRCm39) S55P probably damaging Het
Or7g34 T C 9: 19,478,318 (GRCm39) M121V possibly damaging Het
Paip2b A C 6: 83,785,828 (GRCm39) V134G possibly damaging Het
Pax3 T C 1: 78,108,984 (GRCm39) T225A probably damaging Het
Pcdhac2 A T 18: 37,279,335 (GRCm39) K772* probably null Het
Pcsk4 A T 10: 80,161,651 (GRCm39) Y163* probably null Het
Plcd3 A G 11: 102,971,470 (GRCm39) V58A probably damaging Het
Plek2 T A 12: 78,946,867 (GRCm39) T57S possibly damaging Het
Plscr2 C T 9: 92,169,721 (GRCm39) T57I probably benign Het
Ppp2r5b A G 19: 6,284,768 (GRCm39) S32P probably benign Het
Ppp3r2 C T 4: 49,682,022 (GRCm39) probably benign Het
Psme4 T A 11: 30,815,567 (GRCm39) L1693H probably damaging Het
Rrbp1 T A 2: 143,830,313 (GRCm39) Q618L probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Serpina3b A T 12: 104,100,428 (GRCm39) T337S probably benign Het
Slc18a2 T C 19: 59,282,310 (GRCm39) Y506H probably benign Het
Slc9a9 A G 9: 94,818,482 (GRCm39) Y292C probably benign Het
Spta1 T C 1: 174,052,086 (GRCm39) V1840A probably benign Het
Ssb T C 2: 69,701,552 (GRCm39) *416Q probably null Het
Strada A G 11: 106,059,262 (GRCm39) V209A probably benign Het
Tbc1d31 A T 15: 57,799,489 (GRCm39) D225V probably damaging Het
Tgm4 T C 9: 122,885,600 (GRCm39) F381L probably benign Het
Tmem120b T A 5: 123,253,207 (GRCm39) Y203N probably damaging Het
Tmem176b A G 6: 48,812,868 (GRCm39) V109A probably benign Het
Tnfrsf11a C A 1: 105,747,671 (GRCm39) L201M possibly damaging Het
Ttn C A 2: 76,804,694 (GRCm39) probably null Het
Tubb2a T C 13: 34,259,326 (GRCm39) I155V probably benign Het
Vmn1r5 A G 6: 56,963,099 (GRCm39) D258G probably damaging Het
Vmn2r121 T C X: 123,043,272 (GRCm39) T120A probably benign Het
Vmn2r19 A T 6: 123,306,907 (GRCm39) I472F probably damaging Het
Vwa3a A G 7: 120,375,361 (GRCm39) probably null Het
Zfp273 A G 13: 67,970,466 (GRCm39) Y5C probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp825 A G 13: 74,628,772 (GRCm39) L248P 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
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'- CCGATGGCATGACCCATAAAG -3'
(R):5'- AGCCTTGTGCAGTCTGTCTC -3'

Sequencing Primer
(F):5'- TGGCATGACCCATAAAGAAACAAG -3'
(R):5'- CTCATAAGTGACAATGGATTTGCC -3'
Posted On 2017-08-16