Incidental Mutation 'R1348:Paxbp1'
ID 156581
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 039413-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R1348 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 90810925-90841267 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90831904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 328 (V328A)
Ref Sequence ENSEMBL: ENSMUSP00000113835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118522] [ENSMUST00000145136]
AlphaFold P58501
Predicted Effect unknown
Transcript: ENSMUST00000023698
AA Change: V264A
SMART Domains Protein: ENSMUSP00000023698
Gene: ENSMUSG00000022974
AA Change: V264A

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: V328A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113835
Gene: ENSMUSG00000022974
AA Change: V328A

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 probably benign
Transcript: ENSMUST00000145136
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146281
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 94.2%
  • 20x: 87.2%
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A G 17: 24,593,212 (GRCm39) probably null Het
Art1 G A 7: 101,756,579 (GRCm39) A33T possibly damaging Het
Aspa G A 11: 73,215,309 (GRCm39) T2I probably damaging Het
Cntn1 C T 15: 92,212,544 (GRCm39) T902I probably damaging Het
Dpep1 G A 8: 123,925,899 (GRCm39) C118Y probably benign Het
Garin1a A G 6: 29,283,284 (GRCm39) H36R probably benign Het
Gucy2g C T 19: 55,211,338 (GRCm39) V631I possibly damaging Het
Igf1r C G 7: 67,868,216 (GRCm39) N1220K probably damaging Het
Insr A T 8: 3,242,635 (GRCm39) I28N probably damaging Het
Katnal2 T C 18: 77,066,238 (GRCm39) probably null Het
Klrb1a T C 6: 128,586,797 (GRCm39) D156G possibly damaging Het
Kpna6 G A 4: 129,555,152 (GRCm39) R26* probably null Het
Muc2 CGTG CGTGTG 7: 141,699,185 (GRCm38) probably null Het
Naa15 C G 3: 51,373,091 (GRCm39) C661W probably damaging Het
Or10g7 T C 9: 39,905,124 (GRCm39) I6T probably benign Het
Or1e1 G T 11: 73,244,682 (GRCm39) M34I probably benign Het
Or8g20 A G 9: 39,396,532 (GRCm39) S3P probably benign Het
Pkd1l1 T C 11: 8,784,806 (GRCm39) T1993A probably benign Het
Pold1 C T 7: 44,184,106 (GRCm39) V865I probably benign Het
Racgap1 A G 15: 99,524,246 (GRCm39) I387T possibly damaging Het
Rbm15 G T 3: 107,239,946 (GRCm39) R151S possibly damaging Het
Rbms2 C T 10: 128,012,214 (GRCm39) probably null Het
Recql4 A G 15: 76,593,411 (GRCm39) I140T probably benign Het
Shld2 T A 14: 33,990,880 (GRCm39) I9F probably damaging Het
Sorl1 A T 9: 41,911,708 (GRCm39) probably null Het
Speg G A 1: 75,399,516 (GRCm39) G2321D probably damaging Het
Trp53tg5 A G 2: 164,315,521 (GRCm39) probably null Het
Tyw3 A C 3: 154,299,451 (GRCm39) M86R possibly damaging Het
Vmn1r11 G A 6: 57,114,963 (GRCm39) C209Y probably benign Het
Zfp472 T A 17: 33,196,794 (GRCm39) F290I probably benign 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
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
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'- GTAACGGGAGCCATCTCATTACTGG -3'
(R):5'- TGATTCTGTCACATGCCGCAGC -3'

Sequencing Primer
(F):5'- CATTACTGGGAGTTTTGAAAGGGAC -3'
(R):5'- TCCTTTCTAAACTCGGAGAGAC -3'
Posted On 2014-02-11