Incidental Mutation 'R4073:Pbx3'
ID 316370
Institutional Source Beutler Lab
Gene Symbol Pbx3
Ensembl Gene ENSMUSG00000038718
Gene Name pre B cell leukemia homeobox 3
Synonyms
MMRRC Submission 041621-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4073 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 34061469-34262375 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34114424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 112 (Y112C)
Ref Sequence ENSEMBL: ENSMUSP00000135226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040638] [ENSMUST00000113132] [ENSMUST00000127353] [ENSMUST00000138021] [ENSMUST00000141653] [ENSMUST00000143776] [ENSMUST00000153278]
AlphaFold O35317
Predicted Effect probably damaging
Transcript: ENSMUST00000040638
AA Change: Y170C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045281
Gene: ENSMUSG00000038718
AA Change: Y170C

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 damaging
Transcript: ENSMUST00000113132
AA Change: Y170C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108757
Gene: ENSMUSG00000038718
AA Change: Y170C

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: ENSMUST00000127353
SMART Domains Protein: ENSMUSP00000114695
Gene: ENSMUSG00000038718

DomainStartEndE-ValueType
Pfam:PBC 1 54 2e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000138021
AA Change: Y112C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135226
Gene: ENSMUSG00000038718
AA Change: Y112C

DomainStartEndE-ValueType
Pfam:PBC 3 128 3.7e-60 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000141653
AA Change: Y95C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115710
Gene: ENSMUSG00000038718
AA Change: Y95C

DomainStartEndE-ValueType
Pfam:PBC 1 96 6.7e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143776
SMART Domains Protein: ENSMUSP00000119914
Gene: ENSMUSG00000038718

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

DomainStartEndE-ValueType
Pfam:PBC 38 93 4.9e-26 PFAM
Meta Mutation Damage Score 0.7437 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 96% (67/70)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415M13Rik C T 17: 54,031,494 (GRCm39) noncoding transcript Het
Alox12 T C 11: 70,138,136 (GRCm39) N400D probably damaging Het
Axl A G 7: 25,463,336 (GRCm39) probably benign Het
Cbs C T 17: 31,851,979 (GRCm39) C8Y possibly damaging Het
Ccdc103 C T 11: 102,774,925 (GRCm39) R175W probably damaging Het
Clasp1 T C 1: 118,431,578 (GRCm39) F171L probably damaging Het
Cnot10 A G 9: 114,452,015 (GRCm39) F254L possibly damaging Het
Cytl1 A G 5: 37,892,940 (GRCm39) I17V unknown Het
Dnah11 A G 12: 118,009,413 (GRCm39) M2083T probably benign Het
Dock7 A T 4: 98,896,296 (GRCm39) S768R probably benign Het
Egf C T 3: 129,529,618 (GRCm39) R264Q probably benign Het
Ehhadh T C 16: 21,585,257 (GRCm39) D208G probably benign Het
Eqtn A G 4: 94,808,199 (GRCm39) I201T possibly damaging Het
Erbin T C 13: 103,996,619 (GRCm39) E211G probably damaging Het
Ercc4 G A 16: 12,948,549 (GRCm39) V499I probably damaging Het
Gpd2 A G 2: 57,180,025 (GRCm39) R91G probably damaging Het
Herc1 A G 9: 66,325,774 (GRCm39) D1416G probably benign Het
Ighv1-30 C T 12: 114,781,021 (GRCm39) noncoding transcript Het
Il23r A G 6: 67,463,106 (GRCm39) I129T probably damaging Het
Jph4 T C 14: 55,352,497 (GRCm39) S79G probably benign Het
Lamp3 A G 16: 19,519,466 (GRCm39) L239P possibly damaging Het
Lrig3 C T 10: 125,849,277 (GRCm39) T999I probably benign Het
Lrrc71 G A 3: 87,652,569 (GRCm39) T185I probably benign Het
Mroh1 A G 15: 76,292,185 (GRCm39) D219G probably benign Het
Mtor T A 4: 148,633,832 (GRCm39) S2342T probably damaging Het
Nf2 T C 11: 4,798,958 (GRCm39) S10G probably benign Het
Nlrp4c A G 7: 6,075,709 (GRCm39) K667E probably benign Het
Nrm T A 17: 36,172,424 (GRCm39) probably benign Het
Nsd1 T A 13: 55,395,541 (GRCm39) H1047Q probably benign Het
Obox3 G T 7: 15,359,724 (GRCm39) T315N possibly damaging Het
Or2t47 T C 11: 58,442,888 (GRCm39) Y59C probably damaging Het
Or4k5 A G 14: 50,385,500 (GRCm39) V277A possibly damaging Het
Or4x13 T C 2: 90,231,337 (GRCm39) F111L probably benign Het
Or5b3 G A 19: 13,388,299 (GRCm39) R122H possibly damaging Het
Or6aa1 T A 7: 86,044,155 (GRCm39) I184F probably damaging Het
Or8b38 T C 9: 37,973,165 (GRCm39) L183P probably damaging Het
Pde11a C T 2: 76,168,242 (GRCm39) R237H probably damaging Het
Phactr1 ACTT A 13: 43,213,245 (GRCm39) probably benign Het
Pidd1 A G 7: 141,020,739 (GRCm39) F453L probably damaging Het
Ptgs1 C T 2: 36,127,788 (GRCm39) R116C probably damaging Het
Rab39b T C X: 74,618,658 (GRCm39) probably benign Het
Rpp25 T C 9: 57,411,592 (GRCm39) S25P probably benign Het
Rrbp1 T G 2: 143,805,030 (GRCm39) Q1045P probably benign Het
Sbk3 G T 7: 4,973,501 (GRCm39) A41D probably damaging Het
Slc24a3 T A 2: 145,455,636 (GRCm39) probably benign Het
Slc28a3 T C 13: 58,707,104 (GRCm39) I565V probably benign Het
Slc35a3 T C 3: 116,468,887 (GRCm39) T275A probably benign Het
Spink12 A G 18: 44,237,731 (GRCm39) N3S possibly damaging Het
Srp72 C A 5: 77,146,098 (GRCm39) T633K probably benign Het
Tab3 G T X: 84,658,063 (GRCm39) V197F probably damaging Het
Taf2 A G 15: 54,915,633 (GRCm39) L431P probably damaging Het
Tas2r131 A T 6: 132,934,802 (GRCm39) Y2* probably null Het
Tmprss11e T C 5: 86,863,502 (GRCm39) T188A possibly damaging Het
Trpv1 T C 11: 73,141,606 (GRCm39) V175A probably damaging Het
Usp21 T C 1: 171,109,746 (GRCm39) probably benign Het
Vmn1r25 A G 6: 57,955,572 (GRCm39) V239A possibly damaging Het
Zbbx C T 3: 75,012,978 (GRCm39) G151E probably damaging Het
Zfhx4 G T 3: 5,464,384 (GRCm39) C1514F probably damaging 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
R2908:Pbx3 UTSW 2 34,062,933 (GRCm39) missense probably damaging 0.96
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'- AGAGGGTTAGCTTTGCACCG -3'
(R):5'- CAGCTAATGAGACTGGACAATATGC -3'

Sequencing Primer
(F):5'- GTTAGCTTTGCACCGAAAGC -3'
(R):5'- AGACTGGACAATATGCTTTTGGC -3'
Posted On 2015-05-15