Incidental Mutation 'IGL02527:Paxbp1'
ID297140
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Paxbp1
Ensembl Gene ENSMUSG00000022974
Gene NamePAX3 and PAX7 binding protein 1
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.964) question?
Stock #IGL02527
Quality Score
Status
Chromosome16
Chromosomal Location91014037-91044543 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 91037273 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 208 (N208K)
Ref Sequence ENSEMBL: ENSMUSP00000113835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118522]
Predicted Effect unknown
Transcript: ENSMUST00000023698
AA Change: N144K
SMART Domains Protein: ENSMUSP00000023698
Gene: ENSMUSG00000022974
AA Change: N144K

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 possibly damaging
Transcript: ENSMUST00000118522
AA Change: N208K

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113835
Gene: ENSMUSG00000022974
AA Change: N208K

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,661,433 V868A probably damaging Het
Adam25 T A 8: 40,753,748 I17K possibly damaging Het
Arap2 A T 5: 62,749,307 M123K probably benign Het
Asic3 A G 5: 24,416,277 M332V probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
BC017158 T A 7: 128,276,231 T317S possibly damaging Het
Cand1 A T 10: 119,206,807 M1126K probably damaging Het
Capn3 A G 2: 120,504,485 T818A probably damaging Het
Cda G A 4: 138,343,521 Q104* probably null Het
Cpeb1 T C 7: 81,359,887 D234G probably damaging Het
Cpq A G 15: 33,302,363 Y220C probably damaging Het
Diaph3 T C 14: 86,810,359 K1026R possibly damaging Het
Dpep1 T C 8: 123,198,748 F47L probably damaging Het
Dppa4 G T 16: 48,289,093 R66L possibly damaging Het
Elac1 C A 18: 73,747,233 E31* probably null Het
Fggy A G 4: 95,697,069 K62E probably damaging Het
Ficd T A 5: 113,736,966 M32K probably benign Het
Foxd4 A G 19: 24,899,814 S341P probably benign Het
Gm4788 T C 1: 139,753,045 N245S probably damaging Het
Gnb4 G T 3: 32,589,866 T181K probably benign Het
Grin2b T A 6: 135,923,391 Y164F probably damaging Het
Hmmr A G 11: 40,708,105 L564P probably damaging Het
Hsd17b4 G A 18: 50,160,164 V257I probably benign Het
Itga10 C A 3: 96,655,624 probably benign Het
Kcnk18 T C 19: 59,235,275 V284A probably damaging Het
Klf11 T A 12: 24,655,323 S259T probably benign Het
Kmt2d C T 15: 98,841,747 probably benign Het
Manea A G 4: 26,336,619 probably null Het
Mybl1 T C 1: 9,690,148 H75R probably damaging Het
Neb G A 2: 52,263,947 T2384M probably damaging Het
Neb A G 2: 52,149,213 I6938T probably benign Het
Ntrk3 T C 7: 78,451,949 D412G probably benign Het
Olah T C 2: 3,342,942 E211G probably damaging Het
Olfr1123 T C 2: 87,418,837 L261S probably damaging Het
Prrc1 T A 18: 57,389,347 M417K probably benign Het
Ptprq G A 10: 107,686,563 T543M probably benign Het
Rasal1 T C 5: 120,666,404 V447A probably damaging Het
Rbl1 T C 2: 157,194,048 E287G probably benign Het
Tec A G 5: 72,779,415 probably null Het
Tex26 A G 5: 149,456,942 D61G probably damaging Het
Tgfb1i1 G A 7: 128,252,562 probably benign Het
Tmem132c T C 5: 127,359,611 Y55H possibly damaging Het
Tmem63a T A 1: 180,952,974 probably null Het
Umod C T 7: 119,469,467 G452D probably damaging Het
Vcan G A 13: 89,690,657 T2256I possibly damaging Het
Vmn1r31 A T 6: 58,472,793 I29K probably benign Het
Vmn2r117 A G 17: 23,477,225 Y403H possibly damaging Het
Vmn2r124 A T 17: 18,066,502 probably null Het
Vmn2r65 T A 7: 84,946,516 K320M possibly damaging Het
Other mutations in Paxbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01431:Paxbp1 APN 16 91035916 splice site probably benign
IGL01705:Paxbp1 APN 16 91016988 missense probably benign 0.01
IGL02418:Paxbp1 APN 16 91034112 missense probably damaging 1.00
IGL02661:Paxbp1 APN 16 91030525 missense probably benign 0.43
IGL02796:Paxbp1 APN 16 91025294 unclassified probably benign
IGL03336:Paxbp1 APN 16 91034172 missense probably benign
R0016:Paxbp1 UTSW 16 91036036 splice site probably benign
R0306:Paxbp1 UTSW 16 91022115 missense possibly damaging 0.54
R0331:Paxbp1 UTSW 16 91037367 missense possibly damaging 0.95
R0724:Paxbp1 UTSW 16 91036536 missense probably damaging 1.00
R0944:Paxbp1 UTSW 16 91023427 missense probably benign 0.25
R1348:Paxbp1 UTSW 16 91035016 missense probably damaging 0.97
R1909:Paxbp1 UTSW 16 91044305 unclassified probably benign
R2234:Paxbp1 UTSW 16 91034934 missense probably benign 0.05
R3156:Paxbp1 UTSW 16 91035990 missense probably benign 0.00
R3819:Paxbp1 UTSW 16 91022752 unclassified probably benign
R3910:Paxbp1 UTSW 16 91042681 missense probably damaging 1.00
R3949:Paxbp1 UTSW 16 91044017 missense probably damaging 1.00
R4109:Paxbp1 UTSW 16 91016898 missense probably benign 0.10
R4577:Paxbp1 UTSW 16 91015154 missense probably damaging 1.00
R4584:Paxbp1 UTSW 16 91034123 missense probably damaging 1.00
R4596:Paxbp1 UTSW 16 91030547 missense probably benign 0.28
R4837:Paxbp1 UTSW 16 91034978 nonsense probably null
R4877:Paxbp1 UTSW 16 91044311 unclassified probably benign
R5079:Paxbp1 UTSW 16 91025146 critical splice donor site probably null
R5086:Paxbp1 UTSW 16 91015216 unclassified probably benign
R5167:Paxbp1 UTSW 16 91022667 critical splice donor site probably null
R5291:Paxbp1 UTSW 16 91044352 start codon destroyed probably null
R5322:Paxbp1 UTSW 16 91015162 missense probably benign 0.01
R5529:Paxbp1 UTSW 16 91030513 missense possibly damaging 0.62
R5662:Paxbp1 UTSW 16 91037397 missense probably benign 0.45
R5814:Paxbp1 UTSW 16 91030496 missense probably damaging 1.00
R6422:Paxbp1 UTSW 16 91023444 missense probably benign 0.07
R7225:Paxbp1 UTSW 16 91027068 missense probably damaging 1.00
R7495:Paxbp1 UTSW 16 91016949 missense probably damaging 1.00
R7582:Paxbp1 UTSW 16 91022667 critical splice donor site probably null
R7895:Paxbp1 UTSW 16 91025278 missense probably damaging 1.00
R7978:Paxbp1 UTSW 16 91025278 missense probably damaging 1.00
X0026:Paxbp1 UTSW 16 91027242 missense probably damaging 1.00
Posted On2015-04-16