Incidental Mutation 'R8218:Pbxip1'
ID 636464
Institutional Source Beutler Lab
Gene Symbol Pbxip1
Ensembl Gene ENSMUSG00000042613
Gene Name pre B cell leukemia transcription factor interacting protein 1
Synonyms 4732463H20Rik
MMRRC Submission 067637-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R8218 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 89344013-89358259 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89352902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 183 (I183V)
Ref Sequence ENSEMBL: ENSMUSP00000040429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038942] [ENSMUST00000130858] [ENSMUST00000145753] [ENSMUST00000146630]
AlphaFold Q3TVI8
Predicted Effect probably benign
Transcript: ENSMUST00000038942
AA Change: I183V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040429
Gene: ENSMUSG00000042613
AA Change: I183V

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: I190V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118496
Gene: ENSMUSG00000042613
AA Change: I190V

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 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: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 99% (72/73)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik G A 15: 84,839,668 (GRCm39) H191Y probably damaging Het
5730480H06Rik T A 5: 48,536,769 (GRCm39) L155* probably null Het
Ackr4 T C 9: 103,976,410 (GRCm39) N179S probably benign Het
Acp5 T C 9: 22,040,902 (GRCm39) Y107C probably damaging Het
Aff4 A T 11: 53,289,084 (GRCm39) H411L probably damaging Het
Atp5pb A G 3: 105,866,502 (GRCm39) M1T probably null Het
Atp8b5 G A 4: 43,372,728 (GRCm39) probably null Het
C1qtnf2 A G 11: 43,381,775 (GRCm39) T166A possibly damaging Het
Dctn2 A G 10: 127,112,398 (GRCm39) D170G probably damaging Het
Dennd3 T A 15: 73,384,622 (GRCm39) S10T probably benign Het
Ehbp1 T C 11: 22,046,096 (GRCm39) Y551C possibly damaging Het
Eif4g2 A T 7: 110,673,639 (GRCm39) D743E possibly damaging Het
Esr1 G A 10: 4,696,808 (GRCm39) probably null Het
Exo1 A T 1: 175,728,480 (GRCm39) I515L probably benign Het
Fam83h C T 15: 75,874,886 (GRCm39) G817D probably damaging Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Garin1a T C 6: 29,286,072 (GRCm39) I177T probably damaging Het
Gcn1 G A 5: 115,719,588 (GRCm39) S361N probably benign Het
Gm6337 C T 14: 6,050,613 (GRCm38) probably null Het
Grk4 T A 5: 34,826,540 (GRCm39) S47T probably benign Het
Gstp2 C A 19: 4,091,668 (GRCm39) M20I probably benign Het
Harbi1 T C 2: 91,543,237 (GRCm39) F233L probably benign Het
Iqch C T 9: 63,389,915 (GRCm39) V755I possibly damaging Het
Iws1 T C 18: 32,226,688 (GRCm39) F756L probably benign Het
Kcnh6 T G 11: 105,908,200 (GRCm39) V272G possibly damaging Het
Kcnj10 C T 1: 172,196,539 (GRCm39) R18C probably damaging Het
Kmt2c A C 5: 25,488,104 (GRCm39) S4670A probably damaging Het
Krt80 T G 15: 101,267,884 (GRCm39) M18L probably benign Het
Lbx1 A G 19: 45,223,359 (GRCm39) V103A probably benign Het
Marchf8 A T 6: 116,315,059 (GRCm39) probably benign Het
Muc16 T A 9: 18,548,315 (GRCm39) T5993S possibly damaging Het
Or10ag57 C T 2: 87,218,922 (GRCm39) T291I probably damaging Het
Or1j17 A G 2: 36,578,685 (GRCm39) T224A probably benign Het
Or1o4 A G 17: 37,590,711 (GRCm39) V200A probably benign Het
Or8k17 C T 2: 86,066,862 (GRCm39) V106M probably benign Het
Pcdh20 T A 14: 88,706,047 (GRCm39) I418F probably damaging Het
Pclo T C 5: 14,725,677 (GRCm39) F1512L unknown Het
Phf2 G T 13: 48,958,104 (GRCm39) T970K unknown Het
Pidd1 A G 7: 141,019,566 (GRCm39) V698A probably damaging Het
Pik3ca T A 3: 32,491,996 (GRCm39) V198D possibly damaging Het
Pip5k1c T A 10: 81,142,250 (GRCm39) D153E probably damaging Het
Ppfia2 A G 10: 106,699,236 (GRCm39) D795G probably benign Het
Pramel12 A T 4: 143,145,706 (GRCm39) I392F probably benign Het
Prkar2a C A 9: 108,596,448 (GRCm39) A131D possibly damaging Het
Pter A G 2: 12,985,366 (GRCm39) D232G probably damaging Het
Qser1 C T 2: 104,593,268 (GRCm39) R1583Q probably damaging Het
Rasal2 A C 1: 156,984,951 (GRCm39) V932G probably damaging Het
Rasgrf2 G A 13: 92,130,796 (GRCm39) A154V Het
Rbm4 A G 19: 4,837,444 (GRCm39) Y347H probably damaging Het
Rfxank C A 8: 70,584,085 (GRCm39) probably null Het
Robo1 C G 16: 72,786,678 (GRCm39) R897G possibly damaging Het
Sash1 G A 10: 8,627,000 (GRCm39) T364I probably damaging Het
Skint6 T A 4: 112,696,471 (GRCm39) probably null Het
Slc22a4 T A 11: 53,877,407 (GRCm39) M495L probably benign Het
Slc39a8 G A 3: 135,563,325 (GRCm39) V212I probably benign Het
Slc40a1 A C 1: 45,950,129 (GRCm39) V441G probably benign Het
Slc7a11 A T 3: 50,378,501 (GRCm39) Y246N probably damaging Het
Spata9 T C 13: 76,125,892 (GRCm39) V125A probably benign Het
Svopl T A 6: 37,991,741 (GRCm39) M380L probably benign Het
Sycp2l T C 13: 41,271,544 (GRCm39) Y23H probably damaging Het
Syt11 A T 3: 88,669,427 (GRCm39) V155E probably benign Het
Syt5 T C 7: 4,545,822 (GRCm39) Y147C probably damaging Het
Thg1l T C 11: 45,846,277 (GRCm39) T6A probably benign Het
Tlr2 A G 3: 83,745,546 (GRCm39) L179P probably damaging Het
Tsn A T 1: 118,232,984 (GRCm39) Y107N probably damaging Het
Tspan32 A T 7: 142,564,832 (GRCm39) Y114F probably benign Het
Tube1 A C 10: 39,023,375 (GRCm39) S341R possibly damaging Het
Ubn2 T A 6: 38,466,214 (GRCm39) V516D probably benign Het
Vmn1r21 G T 6: 57,820,910 (GRCm39) T178K noncoding transcript Het
Vmn2r108 A G 17: 20,683,465 (GRCm39) Y580H probably damaging Het
Wdr75 T A 1: 45,857,342 (GRCm39) F546L probably damaging Het
Yy1 A G 12: 108,759,619 (GRCm39) D94G probably benign Het
Zfhx3 A G 8: 109,677,349 (GRCm39) T2800A probably benign Het
Zfy2 T C Y: 2,133,421 (GRCm39) T9A unknown 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
R4591:Pbxip1 UTSW 3 89,353,467 (GRCm39) missense probably benign 0.33
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
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'- TTAGTACGCAGCTTGAGTGG -3'
(R):5'- TGAAGACAGTCTGGTGAGGC -3'

Sequencing Primer
(F):5'- CAGCTTGAGTGGGCAGTC -3'
(R):5'- ACAGTCTGGTGAGGCCTCAG -3'
Posted On 2020-07-13