Incidental Mutation 'R5814:Paxbp1'
ID 447708
Institutional Source Beutler Lab
Gene Symbol Paxbp1
Ensembl Gene ENSMUSG00000022974
Gene Name PAX3 and PAX7 binding protein 1
Synonyms 1810007M14Rik, Pax3/7bp, Gcfc1
MMRRC Submission 043396-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R5814 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 90810925-90841267 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 90827384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 420 (R420S)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118522] [ENSMUST00000145136]
AlphaFold P58501
Predicted Effect probably damaging
Transcript: ENSMUST00000023698
AA Change: R420S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000023698
Gene: ENSMUSG00000022974
AA Change: R420S

DomainStartEndE-ValueType
low complexity region 5 27 N/A INTRINSIC
low complexity region 51 57 N/A INTRINSIC
low complexity region 60 86 N/A INTRINSIC
low complexity region 123 136 N/A INTRINSIC
low complexity region 195 208 N/A INTRINSIC
low complexity region 434 444 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118522
AA Change: R484S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113835
Gene: ENSMUSG00000022974
AA Change: R484S

DomainStartEndE-ValueType
coiled coil region 3 28 N/A INTRINSIC
low complexity region 114 120 N/A INTRINSIC
low complexity region 123 149 N/A INTRINSIC
low complexity region 186 199 N/A INTRINSIC
low complexity region 258 271 N/A INTRINSIC
low complexity region 525 546 N/A INTRINSIC
Pfam:GCFC 597 812 5.1e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124653
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128922
Predicted Effect unknown
Transcript: ENSMUST00000145136
AA Change: R7S
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146281
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 91% (52/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may bind to GC-rich DNA sequences, which suggests its involvement in the regulation of transcription. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 130,740,811 (GRCm39) D135G probably benign Het
Arrdc3 G T 13: 81,038,698 (GRCm39) R220L possibly damaging Het
Bace1 A G 9: 45,771,562 (GRCm39) D458G probably damaging Het
Cacna1s A G 1: 136,034,880 (GRCm39) Y1360C probably benign Het
Ccnb1-ps T C 7: 41,756,522 (GRCm39) noncoding transcript Het
Cd209b T C 8: 3,973,348 (GRCm39) E112G probably damaging Het
Cit T A 5: 116,117,478 (GRCm39) L1176Q probably damaging Het
Clcn3 T C 8: 61,387,607 (GRCm39) Y214C probably damaging Het
Clvs2 G T 10: 33,404,503 (GRCm39) Q238K probably benign Het
Creb3l3 C T 10: 80,921,496 (GRCm39) V350M probably benign Het
Crot A C 5: 9,023,996 (GRCm39) D373E probably damaging Het
Cyp4a12b T A 4: 115,289,694 (GRCm39) I187N probably damaging Het
Degs1l G A 1: 180,882,663 (GRCm39) V142I probably damaging Het
Dnhd1 C A 7: 105,369,102 (GRCm39) A4291D possibly damaging Het
Dnmt3b A T 2: 153,514,417 (GRCm39) E403D probably benign Het
Ect2l A T 10: 18,075,757 (GRCm39) I43K probably damaging Het
Efcab3 T A 11: 104,626,940 (GRCm39) probably benign Het
Ep400 C A 5: 110,843,444 (GRCm39) probably null Het
Erp27 A T 6: 136,888,564 (GRCm39) V138E possibly damaging Het
Gbp4 G A 5: 105,267,785 (GRCm39) A487V probably benign Het
Gm10142 C A 10: 77,551,957 (GRCm39) T106N probably damaging Het
Gxylt2 C A 6: 100,710,196 (GRCm39) H112Q probably damaging Het
Hexim2 G A 11: 103,029,209 (GRCm39) R87Q probably damaging Het
Hgf A G 5: 16,807,305 (GRCm39) N399S probably benign Het
Ikbke T A 1: 131,199,516 (GRCm39) I302F probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kdm1b A G 13: 47,216,622 (GRCm39) probably null Het
Krtap19-9a T C 16: 88,721,002 (GRCm39) noncoding transcript Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Mmp10 G A 9: 7,503,621 (GRCm39) A164T possibly damaging Het
Myrip G A 9: 120,253,734 (GRCm39) G269D probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Pcbp2 T A 15: 102,391,597 (GRCm39) S38R probably damaging Het
Pcf11 A G 7: 92,306,922 (GRCm39) V1082A probably benign Het
Pkhd1 T C 1: 20,269,629 (GRCm39) E3305G probably damaging Het
Pla2g4c T A 7: 13,074,543 (GRCm39) W250R probably damaging Het
Prune2 A G 19: 16,993,725 (GRCm39) probably null Het
Rpsa A G 9: 119,957,551 (GRCm39) probably benign Het
Sema3e A G 5: 14,275,680 (GRCm39) I262V probably benign Het
Setd2 T A 9: 110,396,826 (GRCm39) L1663* probably null Het
Sh3d19 G A 3: 86,033,911 (GRCm39) V755I probably benign Het
Spag9 T A 11: 93,973,654 (GRCm39) V14E possibly damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Sspo A T 6: 48,428,818 (GRCm39) Q411L probably damaging Het
Sycp1 A C 3: 102,803,213 (GRCm39) S532R probably benign Het
Taf6l C A 19: 8,752,210 (GRCm39) A493S probably benign Het
Tsnaxip1 A G 8: 106,570,603 (GRCm39) D574G probably benign Het
Ttll10 T A 4: 156,132,084 (GRCm39) K117N possibly damaging Het
Uqcc5 A G 14: 30,846,477 (GRCm39) probably null Het
Utp4 T A 8: 107,638,907 (GRCm39) I405K probably damaging Het
Vmn2r45 T A 7: 8,474,475 (GRCm39) Y851F probably benign Het
Vps33a T C 5: 123,703,119 (GRCm39) D168G probably damaging Het
Other mutations in Paxbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01431:Paxbp1 APN 16 90,832,804 (GRCm39) splice site probably benign
IGL01705:Paxbp1 APN 16 90,813,876 (GRCm39) missense probably benign 0.01
IGL02418:Paxbp1 APN 16 90,831,000 (GRCm39) missense probably damaging 1.00
IGL02527:Paxbp1 APN 16 90,834,161 (GRCm39) missense possibly damaging 0.57
IGL02661:Paxbp1 APN 16 90,827,413 (GRCm39) missense probably benign 0.43
IGL02796:Paxbp1 APN 16 90,822,182 (GRCm39) unclassified probably benign
IGL03336:Paxbp1 APN 16 90,831,060 (GRCm39) missense probably benign
R0016:Paxbp1 UTSW 16 90,832,924 (GRCm39) splice site probably benign
R0306:Paxbp1 UTSW 16 90,819,003 (GRCm39) missense possibly damaging 0.54
R0331:Paxbp1 UTSW 16 90,834,255 (GRCm39) missense possibly damaging 0.95
R0724:Paxbp1 UTSW 16 90,833,424 (GRCm39) missense probably damaging 1.00
R0944:Paxbp1 UTSW 16 90,820,315 (GRCm39) missense probably benign 0.25
R1348:Paxbp1 UTSW 16 90,831,904 (GRCm39) missense probably damaging 0.97
R1909:Paxbp1 UTSW 16 90,841,193 (GRCm39) unclassified probably benign
R2234:Paxbp1 UTSW 16 90,831,822 (GRCm39) missense probably benign 0.05
R3156:Paxbp1 UTSW 16 90,832,878 (GRCm39) missense probably benign 0.00
R3819:Paxbp1 UTSW 16 90,819,640 (GRCm39) unclassified probably benign
R3910:Paxbp1 UTSW 16 90,839,569 (GRCm39) missense probably damaging 1.00
R3949:Paxbp1 UTSW 16 90,840,905 (GRCm39) missense probably damaging 1.00
R4109:Paxbp1 UTSW 16 90,813,786 (GRCm39) missense probably benign 0.10
R4577:Paxbp1 UTSW 16 90,812,042 (GRCm39) missense probably damaging 1.00
R4584:Paxbp1 UTSW 16 90,831,011 (GRCm39) missense probably damaging 1.00
R4596:Paxbp1 UTSW 16 90,827,435 (GRCm39) missense probably benign 0.28
R4837:Paxbp1 UTSW 16 90,831,866 (GRCm39) nonsense probably null
R4877:Paxbp1 UTSW 16 90,841,199 (GRCm39) unclassified probably benign
R5079:Paxbp1 UTSW 16 90,822,034 (GRCm39) critical splice donor site probably null
R5086:Paxbp1 UTSW 16 90,812,104 (GRCm39) unclassified probably benign
R5167:Paxbp1 UTSW 16 90,819,555 (GRCm39) critical splice donor site probably null
R5291:Paxbp1 UTSW 16 90,841,240 (GRCm39) start codon destroyed probably null
R5322:Paxbp1 UTSW 16 90,812,050 (GRCm39) missense probably benign 0.01
R5529:Paxbp1 UTSW 16 90,827,401 (GRCm39) missense possibly damaging 0.62
R5662:Paxbp1 UTSW 16 90,834,285 (GRCm39) missense probably benign 0.45
R6422:Paxbp1 UTSW 16 90,820,332 (GRCm39) missense probably benign 0.07
R7225:Paxbp1 UTSW 16 90,823,956 (GRCm39) missense probably damaging 1.00
R7495:Paxbp1 UTSW 16 90,813,837 (GRCm39) missense probably damaging 1.00
R7582:Paxbp1 UTSW 16 90,819,555 (GRCm39) critical splice donor site probably null
R7895:Paxbp1 UTSW 16 90,822,166 (GRCm39) missense probably damaging 1.00
R8261:Paxbp1 UTSW 16 90,834,303 (GRCm39) missense probably benign 0.09
R8280:Paxbp1 UTSW 16 90,831,123 (GRCm39) missense probably benign 0.00
R8338:Paxbp1 UTSW 16 90,833,435 (GRCm39) missense probably damaging 1.00
R8941:Paxbp1 UTSW 16 90,832,815 (GRCm39) missense possibly damaging 0.93
R9024:Paxbp1 UTSW 16 90,840,963 (GRCm39) missense possibly damaging 0.92
R9363:Paxbp1 UTSW 16 90,827,395 (GRCm39) missense probably damaging 0.99
R9638:Paxbp1 UTSW 16 90,831,882 (GRCm39) missense probably benign 0.00
R9638:Paxbp1 UTSW 16 90,831,881 (GRCm39) missense probably benign 0.02
R9751:Paxbp1 UTSW 16 90,824,188 (GRCm39) missense probably benign 0.00
X0026:Paxbp1 UTSW 16 90,824,130 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACAGTGGCTGCTTGGTTAG -3'
(R):5'- CAGAGTGACTTGCTGCTCTG -3'

Sequencing Primer
(F):5'- CATAACCCAAGTACATGCGTTAC -3'
(R):5'- GACTCCTGCTTATTTTGTCCATAGAG -3'
Posted On 2016-12-15