Incidental Mutation 'R4591:Pbxip1'
ID 499991
Institutional Source Beutler Lab
Gene Symbol Pbxip1
Ensembl Gene ENSMUSG00000042613
Gene Name pre B cell leukemia transcription factor interacting protein 1
Synonyms 4732463H20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R4591 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 89344013-89358259 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89353467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 249 (L249Q)
Ref Sequence ENSEMBL: ENSMUSP00000118496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038942] [ENSMUST00000130858] [ENSMUST00000145753] [ENSMUST00000146630]
AlphaFold Q3TVI8
Predicted Effect probably benign
Transcript: ENSMUST00000038942
AA Change: L242Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040429
Gene: ENSMUSG00000042613
AA Change: L242Q

DomainStartEndE-ValueType
low complexity region 142 152 N/A INTRINSIC
low complexity region 162 177 N/A INTRINSIC
transmembrane domain 187 209 N/A INTRINSIC
coiled coil region 270 350 N/A INTRINSIC
coiled coil region 379 405 N/A INTRINSIC
low complexity region 672 691 N/A INTRINSIC
low complexity region 692 703 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130858
AA Change: L249Q

PolyPhen 2 Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118496
Gene: ENSMUSG00000042613
AA Change: L249Q

DomainStartEndE-ValueType
low complexity region 149 159 N/A INTRINSIC
low complexity region 169 184 N/A INTRINSIC
transmembrane domain 194 216 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141340
Predicted Effect probably benign
Transcript: ENSMUST00000145753
SMART Domains Protein: ENSMUSP00000121658
Gene: ENSMUSG00000042613

DomainStartEndE-ValueType
low complexity region 142 152 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146630
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with the PBX1 homeodomain protein, inhibiting its transcriptional activation potential by preventing its binding to DNA. The encoded protein, which is primarily cytosolic but can shuttle to the nucleus, also can interact with estrogen receptors alpha and beta and promote the proliferation of breast cancer, brain tumors, and lung cancer. Several transcript variants encoding different isoforms have been found for this gene. More variants exist, but their full-length natures have yet to be determined. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T C 3: 68,777,599 (GRCm39) S187P possibly damaging Het
4932438H23Rik T C 16: 90,852,959 (GRCm39) N59S probably damaging Het
Abca15 A T 7: 119,981,636 (GRCm39) D1030V probably damaging Het
Acmsd A T 1: 127,676,934 (GRCm39) N153I probably damaging Het
Adprh C A 16: 38,266,345 (GRCm39) V266L probably benign Het
Aldh5a1 G A 13: 25,107,991 (GRCm39) P217S probably damaging Het
Alpk2 A T 18: 65,438,894 (GRCm39) L1300Q probably benign Het
Alyref C T 11: 120,486,799 (GRCm39) R154Q probably benign Het
Ano6 T A 15: 95,841,308 (GRCm39) C468* probably null Het
Aox3 A T 1: 58,191,815 (GRCm39) I456F probably damaging Het
Art4 A G 6: 136,831,755 (GRCm39) Y129H probably damaging Het
Asb16 C A 11: 102,167,551 (GRCm39) H306N probably damaging Het
Atp8a2 C A 14: 59,892,078 (GRCm39) R1090L probably benign Het
Brap G T 5: 121,800,113 (GRCm39) V1F probably null Het
C1qb C A 4: 136,609,528 (GRCm39) G31W probably damaging Het
Cacna2d4 T C 6: 119,275,425 (GRCm39) Y666H probably benign Het
Casr T C 16: 36,320,732 (GRCm39) N472S probably benign Het
Ccdc91 T G 6: 147,491,963 (GRCm39) S282A unknown Het
Cd300lg A G 11: 101,937,006 (GRCm39) T164A probably benign Het
Cd79b A T 11: 106,202,872 (GRCm39) D243E probably damaging Het
Cdh6 C A 15: 13,051,572 (GRCm39) V354F possibly damaging Het
Cdhr2 A G 13: 54,863,497 (GRCm39) N126S probably benign Het
Cep192 A T 18: 67,968,039 (GRCm39) N841I probably damaging Het
Cngb1 T C 8: 95,980,012 (GRCm39) T963A probably damaging Het
Col16a1 A G 4: 129,955,592 (GRCm39) probably null Het
Coro1a A G 7: 126,302,164 (GRCm39) V61A probably damaging Het
Crocc T A 4: 140,745,983 (GRCm39) D1712V probably damaging Het
Ddn T C 15: 98,705,687 (GRCm39) D3G possibly damaging Het
Dnal1 T C 12: 84,180,627 (GRCm39) F89S probably benign Het
Dusp3 T A 11: 101,864,446 (GRCm39) probably benign Het
Dyrk3 C A 1: 131,057,895 (GRCm39) G58C probably damaging Het
Fat1 T C 8: 45,479,279 (GRCm39) F2775S probably benign Het
Frk A G 10: 34,481,829 (GRCm39) N373S probably benign Het
Glmn A G 5: 107,708,917 (GRCm39) probably null Het
Gm11565 A T 11: 99,805,769 (GRCm39) T54S possibly damaging Het
Gm14410 A G 2: 176,885,820 (GRCm39) I148T possibly damaging Het
Gm21834 T A 17: 58,048,880 (GRCm39) H112L possibly damaging Het
Gm5862 A G 5: 26,224,486 (GRCm39) I161T possibly damaging Het
Grid2 G T 6: 64,297,086 (GRCm39) G483V probably damaging Het
Hfm1 A T 5: 106,995,533 (GRCm39) S1293T probably benign Het
Il1a G A 2: 129,148,447 (GRCm39) R88W probably damaging Het
Il20rb A T 9: 100,357,043 (GRCm39) V29D possibly damaging Het
Ilvbl C T 10: 78,419,139 (GRCm39) L463F probably benign Het
Kif17 A G 4: 138,005,110 (GRCm39) E225G probably benign Het
Lrp2 A G 2: 69,366,419 (GRCm39) F227L probably damaging Het
Lrrc43 A G 5: 123,639,227 (GRCm39) M419V probably benign Het
Magel2 A G 7: 62,030,837 (GRCm39) Q1247R unknown Het
Mamdc4 T A 2: 25,454,609 (GRCm39) M1068L possibly damaging Het
Mdn1 T G 4: 32,707,636 (GRCm39) S1642A probably damaging Het
Mtarc1 T C 1: 184,539,365 (GRCm39) E102G probably benign Het
Mtcl1 T C 17: 66,655,506 (GRCm39) E819G probably benign Het
Naa15 T C 3: 51,349,345 (GRCm39) L38P probably damaging Het
Nlrp3 A G 11: 59,440,048 (GRCm39) R542G probably benign Het
Or10c1 C T 17: 37,522,010 (GRCm39) V245I probably benign Het
Or4d2b A G 11: 87,780,375 (GRCm39) S116P probably benign Het
Or5ac19 A C 16: 59,089,776 (GRCm39) F85V possibly damaging Het
Or5b125-ps1 ACAC ACACGCAC 19: 13,056,266 (GRCm39) noncoding transcript Het
Pla2g7 T C 17: 43,911,450 (GRCm39) S201P probably damaging Het
Psmd1 G T 1: 86,055,926 (GRCm39) V763F probably benign Het
Ptp4a2 A G 4: 129,740,308 (GRCm39) E124G probably benign Het
Rab6b T C 9: 103,044,373 (GRCm39) probably null Het
Rbks T A 5: 31,817,352 (GRCm39) K139M possibly damaging Het
Rgs22 T A 15: 36,100,282 (GRCm39) E268D probably benign Het
Slc16a9 T G 10: 70,118,710 (GRCm39) L343R probably damaging Het
Smagp T C 15: 100,519,860 (GRCm39) I55V probably damaging Het
Sox13 T C 1: 133,311,421 (GRCm39) S604G probably damaging Het
St6gal1 G T 16: 23,140,044 (GRCm39) V72F probably benign Het
Stxbp4 A G 11: 90,485,606 (GRCm39) V247A probably benign Het
Susd3 A T 13: 49,384,736 (GRCm39) M217K possibly damaging Het
Tas2r129 T A 6: 132,928,574 (GRCm39) N170K probably benign Het
Tmem245 C A 4: 56,910,204 (GRCm39) A515S probably damaging Het
Tpte T C 8: 22,817,791 (GRCm39) V259A probably benign Het
Trpa1 T C 1: 14,952,332 (GRCm39) probably null Het
Ttc28 G A 5: 111,371,147 (GRCm39) R532H probably damaging Het
Vwa5a A T 9: 38,646,916 (GRCm39) N529I possibly damaging Het
Zfp574 T C 7: 24,778,969 (GRCm39) probably benign Het
Other mutations in Pbxip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01599:Pbxip1 APN 3 89,350,897 (GRCm39) splice site probably benign
IGL02612:Pbxip1 APN 3 89,350,988 (GRCm39) missense probably damaging 1.00
IGL02718:Pbxip1 APN 3 89,355,311 (GRCm39) missense probably damaging 1.00
R0538:Pbxip1 UTSW 3 89,354,926 (GRCm39) missense possibly damaging 0.79
R0549:Pbxip1 UTSW 3 89,350,899 (GRCm39) splice site probably benign
R1460:Pbxip1 UTSW 3 89,352,921 (GRCm39) missense probably damaging 1.00
R1931:Pbxip1 UTSW 3 89,354,984 (GRCm39) splice site probably null
R1966:Pbxip1 UTSW 3 89,352,795 (GRCm39) missense probably damaging 1.00
R2008:Pbxip1 UTSW 3 89,356,020 (GRCm39) missense probably benign 0.20
R3435:Pbxip1 UTSW 3 89,354,543 (GRCm39) missense probably damaging 0.99
R4504:Pbxip1 UTSW 3 89,353,690 (GRCm39) missense possibly damaging 0.48
R5491:Pbxip1 UTSW 3 89,350,466 (GRCm39) missense probably benign 0.09
R6051:Pbxip1 UTSW 3 89,350,477 (GRCm39) missense probably benign 0.08
R6620:Pbxip1 UTSW 3 89,355,133 (GRCm39) missense probably benign 0.12
R7203:Pbxip1 UTSW 3 89,354,735 (GRCm39) missense possibly damaging 0.68
R7259:Pbxip1 UTSW 3 89,352,940 (GRCm39) missense probably benign
R7604:Pbxip1 UTSW 3 89,352,902 (GRCm39) missense probably benign 0.01
R7687:Pbxip1 UTSW 3 89,355,506 (GRCm39) missense probably damaging 1.00
R7710:Pbxip1 UTSW 3 89,355,408 (GRCm39) missense probably damaging 1.00
R7980:Pbxip1 UTSW 3 89,353,648 (GRCm39) missense probably benign 0.44
R8218:Pbxip1 UTSW 3 89,352,902 (GRCm39) missense probably benign
R8754:Pbxip1 UTSW 3 89,355,235 (GRCm39) missense probably damaging 1.00
R8923:Pbxip1 UTSW 3 89,352,921 (GRCm39) missense possibly damaging 0.78
R8951:Pbxip1 UTSW 3 89,352,864 (GRCm39) missense probably benign 0.05
R9043:Pbxip1 UTSW 3 89,350,794 (GRCm39) missense probably benign
R9253:Pbxip1 UTSW 3 89,351,012 (GRCm39) missense probably benign 0.01
R9398:Pbxip1 UTSW 3 89,354,941 (GRCm39) missense probably benign 0.06
R9651:Pbxip1 UTSW 3 89,352,795 (GRCm39) missense probably damaging 1.00
R9657:Pbxip1 UTSW 3 89,355,056 (GRCm39) missense probably benign
X0012:Pbxip1 UTSW 3 89,353,690 (GRCm39) missense possibly damaging 0.48
X0012:Pbxip1 UTSW 3 89,352,830 (GRCm39) missense possibly damaging 0.91
Z1177:Pbxip1 UTSW 3 89,354,527 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- TTATCCCTTTAACTCAGCAGGACG -3'
(R):5'- AGAAACCCCATGCTCTGCAG -3'

Sequencing Primer
(F):5'- CTTTAACTCAGCAGGACGACAGG -3'
(R):5'- AGGCTGGGGACACTGTCTG -3'
Posted On 2017-11-30