Incidental Mutation 'R6422:Paxbp1'
ID 518225
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 044563-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R6422 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 90810925-90841267 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90820332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 697 (M697K)
Ref Sequence ENSEMBL: ENSMUSP00000113835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118522] [ENSMUST00000145136]
AlphaFold P58501
Predicted Effect probably benign
Transcript: ENSMUST00000023698
SMART Domains Protein: ENSMUSP00000023698
Gene: ENSMUSG00000022974

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 benign
Transcript: ENSMUST00000118522
AA Change: M697K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000113835
Gene: ENSMUSG00000022974
AA Change: M697K

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: ENSMUST00000128922
Predicted Effect probably benign
Transcript: ENSMUST00000145136
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150397
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 91.8%
Validation Efficiency 97% (30/31)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430005L14Rik T A 4: 154,045,381 (GRCm39) F137I probably damaging Het
Adam11 A G 11: 102,665,109 (GRCm39) K417R possibly damaging Het
Btbd9 G A 17: 30,749,230 (GRCm39) A28V probably benign Het
Cabin1 A G 10: 75,492,626 (GRCm39) Y1890H probably damaging Het
Castor2 T A 5: 134,164,549 (GRCm39) M170K probably benign Het
Cep162 G T 9: 87,114,069 (GRCm39) N334K possibly damaging Het
Cep85l A T 10: 53,167,876 (GRCm39) M634K possibly damaging Het
Col20a1 C A 2: 180,656,612 (GRCm39) T1161N possibly damaging Het
Dip2b T A 15: 100,096,892 (GRCm39) D1155E probably damaging Het
Dlst T A 12: 85,177,659 (GRCm39) probably null Het
Dsc1 A C 18: 20,228,090 (GRCm39) L422R probably damaging Het
Gcn1 T C 5: 115,747,603 (GRCm39) W1699R probably damaging Het
Gm14443 G A 2: 175,012,174 (GRCm39) Q91* probably null Het
Gm8159 T C 14: 15,850,210 (GRCm39) I143T probably damaging Het
Il4i1 G T 7: 44,489,560 (GRCm39) A442S probably damaging Het
Kif26a T G 12: 112,135,309 (GRCm39) L337R possibly damaging Het
Lat2 T C 5: 134,632,015 (GRCm39) D144G probably benign Het
Ndst1 G T 18: 60,836,025 (GRCm39) H419Q probably benign Het
Notch4 T C 17: 34,803,533 (GRCm39) I1484T probably benign Het
Or51v14 T G 7: 103,261,221 (GRCm39) E113A probably damaging Het
Plxnb1 A G 9: 108,937,992 (GRCm39) Y1246C probably damaging Het
Prr5 C T 15: 84,578,005 (GRCm39) R96C probably damaging Het
Ptpn7 G T 1: 135,062,240 (GRCm39) C62F probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Sall2 A C 14: 52,550,181 (GRCm39) *1003G probably null Het
Slc5a4b C A 10: 75,939,696 (GRCm39) V147F probably damaging Het
Snapc4 A G 2: 26,258,315 (GRCm39) W702R probably benign Het
Tbc1d32 A T 10: 55,904,157 (GRCm39) C1203* probably null Het
Tmprss11d T A 5: 86,457,284 (GRCm39) Y125F probably damaging Het
Tpp1 G A 7: 105,396,163 (GRCm39) T512I probably benign Het
Tyw5 G A 1: 57,440,570 (GRCm39) A64V 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
R5814:Paxbp1 UTSW 16 90,827,384 (GRCm39) missense probably damaging 1.00
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'- GATAACCACCCATTCTCTTAAACTCTG -3'
(R):5'- TGAGCTTCTGGGGTAACATCC -3'

Sequencing Primer
(F):5'- ACTCTGGCTCATTTTCAAAAGAAG -3'
(R):5'- CATCCATTAATCAGTGAGGTCCGG -3'
Posted On 2018-05-24