Incidental Mutation 'R2908:Pbx3'
ID 261097
Institutional Source Beutler Lab
Gene Symbol Pbx3
Ensembl Gene ENSMUSG00000038718
Gene Name pre B cell leukemia homeobox 3
Synonyms
MMRRC Submission 040495-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2908 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 34061469-34262375 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 34062933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 422 (T422K)
Ref Sequence ENSEMBL: ENSMUSP00000045281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040638] [ENSMUST00000113132] [ENSMUST00000143776] [ENSMUST00000153278]
AlphaFold O35317
Predicted Effect probably damaging
Transcript: ENSMUST00000040638
AA Change: T422K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000045281
Gene: ENSMUSG00000038718
AA Change: T422K

DomainStartEndE-ValueType
Pfam:PBC 43 234 2.7e-97 PFAM
HOX 235 300 1.74e-17 SMART
low complexity region 308 341 N/A INTRINSIC
Blast:HOX 342 385 1e-21 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000113132
SMART Domains Protein: ENSMUSP00000108757
Gene: ENSMUSG00000038718

DomainStartEndE-ValueType
Pfam:PBC 38 234 8.5e-103 PFAM
HOX 235 300 8.8e-20 SMART
low complexity region 308 336 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143776
SMART Domains Protein: ENSMUSP00000119914
Gene: ENSMUSG00000038718

DomainStartEndE-ValueType
Pfam:PBC 38 93 4.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153278
SMART Domains Protein: ENSMUSP00000123567
Gene: ENSMUSG00000038718

DomainStartEndE-ValueType
Pfam:PBC 38 93 4.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175855
SMART Domains Protein: ENSMUSP00000135838
Gene: ENSMUSG00000038718

DomainStartEndE-ValueType
Pfam:PBC 1 53 1.6e-27 PFAM
HOX 54 119 8.8e-20 SMART
low complexity region 127 155 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176213
SMART Domains Protein: ENSMUSP00000135702
Gene: ENSMUSG00000038718

DomainStartEndE-ValueType
Pfam:PBC 2 145 3.2e-76 PFAM
HOX 146 211 1.74e-17 SMART
low complexity region 219 247 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display neonatal lethality with hypoventilation and respiratory failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 A G 10: 77,149,237 (GRCm39) probably null Het
Ap1b1 T A 11: 4,981,641 (GRCm39) N516K probably damaging Het
Atp1a4 A G 1: 172,062,044 (GRCm39) Y694H probably benign Het
Bhlha9 T C 11: 76,563,433 (GRCm39) V20A probably benign Het
Ccl28 C A 13: 120,112,398 (GRCm39) probably null Het
Cdk14 T C 5: 5,299,051 (GRCm39) I55V probably benign Het
Cit C A 5: 116,119,735 (GRCm39) D1246E probably benign Het
Clp1 A G 2: 84,554,488 (GRCm39) V227A possibly damaging Het
Dhx29 T C 13: 113,064,385 (GRCm39) V20A possibly damaging Het
Lima1 C T 15: 99,699,991 (GRCm39) probably null Het
Lyst A G 13: 13,844,458 (GRCm39) I1883V probably benign Het
Myh1 C T 11: 67,111,522 (GRCm39) Q1654* probably null Het
Or5d46 T C 2: 88,170,827 (GRCm39) I306T probably benign Het
Plekhg4 T C 8: 106,107,493 (GRCm39) L1008P probably damaging Het
Rbm26 T A 14: 105,380,270 (GRCm39) T516S probably benign Het
Slc25a40 C T 5: 8,477,505 (GRCm39) T30I probably damaging Het
Spata31d1c A T 13: 65,181,005 (GRCm39) I35F possibly damaging Het
Tmem18 A T 12: 30,637,252 (GRCm39) R78* probably null Het
Uggt2 C T 14: 119,256,919 (GRCm39) S1105N probably benign Het
Zfp53 C A 17: 21,728,736 (GRCm39) C256* probably null Het
Other mutations in Pbx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02468:Pbx3 APN 2 34,114,589 (GRCm39) missense probably damaging 1.00
IGL02524:Pbx3 APN 2 34,260,830 (GRCm39) splice site probably benign
PIT4812001:Pbx3 UTSW 2 34,114,631 (GRCm39) missense probably damaging 0.96
R0302:Pbx3 UTSW 2 34,114,572 (GRCm39) missense probably benign 0.42
R1526:Pbx3 UTSW 2 34,261,776 (GRCm39) missense probably damaging 1.00
R1529:Pbx3 UTSW 2 34,094,871 (GRCm39) missense probably damaging 1.00
R1627:Pbx3 UTSW 2 34,065,965 (GRCm39) missense probably benign 0.00
R1652:Pbx3 UTSW 2 34,114,568 (GRCm39) missense probably damaging 1.00
R1791:Pbx3 UTSW 2 34,114,464 (GRCm39) missense possibly damaging 0.95
R1850:Pbx3 UTSW 2 34,066,832 (GRCm39) missense probably benign 0.34
R4073:Pbx3 UTSW 2 34,114,424 (GRCm39) missense probably damaging 1.00
R5212:Pbx3 UTSW 2 34,178,793 (GRCm39) intron probably benign
R5897:Pbx3 UTSW 2 34,261,920 (GRCm39) missense probably benign 0.01
R7376:Pbx3 UTSW 2 34,094,889 (GRCm39) missense probably damaging 0.96
R7504:Pbx3 UTSW 2 34,065,936 (GRCm39) missense probably damaging 0.99
R7812:Pbx3 UTSW 2 34,114,478 (GRCm39) missense probably damaging 1.00
R8079:Pbx3 UTSW 2 34,068,240 (GRCm39) missense probably benign 0.36
R9104:Pbx3 UTSW 2 34,114,629 (GRCm39) missense probably damaging 1.00
R9114:Pbx3 UTSW 2 34,103,271 (GRCm39) missense probably damaging 1.00
R9225:Pbx3 UTSW 2 34,260,938 (GRCm39) unclassified probably benign
R9336:Pbx3 UTSW 2 34,261,832 (GRCm39) missense probably benign 0.30
R9420:Pbx3 UTSW 2 34,103,348 (GRCm39) missense probably damaging 0.96
R9445:Pbx3 UTSW 2 34,114,555 (GRCm39) critical splice donor site probably benign
Predicted Primers PCR Primer
(F):5'- CTTGGCCTAATTGGATAAAGTGC -3'
(R):5'- CAACGTGGGTTCAGAAAATACATC -3'

Sequencing Primer
(F):5'- AAGTGCTTTCTTTTTAAACGTGTGTC -3'
(R):5'- AATACATCTTGCTAATGCGCC -3'
Posted On 2015-01-23