Incidental Mutation 'IGL01431:Paxbp1'
ID 84133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Paxbp1
Ensembl Gene ENSMUSG00000022974
Gene Name PAX3 and PAX7 binding protein 1
Synonyms 1810007M14Rik, Pax3/7bp, Gcfc1
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # IGL01431
Quality Score
Status
Chromosome 16
Chromosomal Location 90810925-90841267 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 90832804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118522]
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
SMART Domains Protein: ENSMUSP00000113835
Gene: ENSMUSG00000022974

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
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A G 9: 90,089,838 (GRCm39) I897T possibly damaging Het
Aqp2 G A 15: 99,477,301 (GRCm39) V90M possibly damaging Het
Atf6 T C 1: 170,680,571 (GRCm39) probably benign Het
Cdh3 T C 8: 107,274,301 (GRCm39) Y607H probably damaging Het
Cer1 T A 4: 82,801,068 (GRCm39) E198D probably benign Het
Dscam A G 16: 96,453,278 (GRCm39) probably null Het
Ecel1 C T 1: 87,079,226 (GRCm39) R484H probably damaging Het
Entpd7 C A 19: 43,718,278 (GRCm39) H575Q probably benign Het
F11r T C 1: 171,290,477 (GRCm39) V279A probably damaging Het
Gm17093 T A 14: 44,759,122 (GRCm39) probably benign Het
Got1 T A 19: 43,491,488 (GRCm39) K321* probably null Het
Gpn1 T C 5: 31,664,882 (GRCm39) V302A probably benign Het
Hivep1 G T 13: 42,311,493 (GRCm39) K1244N probably damaging Het
Idh3b T C 2: 130,123,817 (GRCm39) T116A possibly damaging Het
Itgb4 C A 11: 115,897,283 (GRCm39) probably benign Het
Mybl1 G T 1: 9,742,872 (GRCm39) L579I probably damaging Het
Myh14 T A 7: 44,263,782 (GRCm39) T1694S probably null Het
Mylk3 T C 8: 86,063,030 (GRCm39) D537G probably damaging Het
Myo1d A C 11: 80,565,665 (GRCm39) F387V probably damaging Het
Nek9 T C 12: 85,361,361 (GRCm39) Y448C probably benign Het
Or8k40 A T 2: 86,584,508 (GRCm39) H191Q probably benign Het
Potefam1 A T 2: 111,055,740 (GRCm39) probably benign Het
Retreg2 T A 1: 75,121,749 (GRCm39) probably null Het
Ripply3 G A 16: 94,129,402 (GRCm39) C16Y possibly damaging Het
Robo3 G A 9: 37,330,407 (GRCm39) probably benign Het
Rrm1 C A 7: 102,106,759 (GRCm39) probably benign Het
Rsad2 T A 12: 26,498,666 (GRCm39) R269S probably benign Het
Sbp A T 17: 24,164,322 (GRCm39) probably benign Het
Schip1 A T 3: 68,525,110 (GRCm39) Q162L probably damaging Het
Senp1 T C 15: 97,980,144 (GRCm39) Y67C probably damaging Het
Slc25a25 C T 2: 32,309,103 (GRCm39) R233K probably damaging Het
Smoc1 C A 12: 81,199,525 (GRCm39) S220* probably null Het
Stab1 C A 14: 30,870,952 (GRCm39) R1299I probably benign Het
Stk17b A G 1: 53,805,074 (GRCm39) probably benign Het
Tmc7 T G 7: 118,151,985 (GRCm39) D312A probably damaging Het
Vmn1r79 T C 7: 11,910,327 (GRCm39) S70P possibly damaging Het
Zfc3h1 C A 10: 115,259,128 (GRCm39) T1591K possibly damaging Het
Other mutations in Paxbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-11-11