Incidental Mutation 'IGL03336:Paxbp1'
ID417027
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: 0.967) question?
Stock #IGL03336
Quality Score
Status
Chromosome16
Chromosomal Location91014037-91044543 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 91034172 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 439 (I439V)
Ref Sequence ENSEMBL: ENSMUSP00000113835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118522] [ENSMUST00000145136]
Predicted Effect unknown
Transcript: ENSMUST00000023698
AA Change: I375V
SMART Domains Protein: ENSMUSP00000023698
Gene: ENSMUSG00000022974
AA Change: I375V

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: I439V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113835
Gene: ENSMUSG00000022974
AA Change: I439V

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A G 15: 60,016,402 V63A probably benign Het
Ankrd11 A G 8: 122,891,843 S1757P probably benign Het
Atp8a1 G T 5: 67,729,807 Y629* probably null Het
Cenpf T C 1: 189,652,647 K2479E probably damaging Het
Clip1 G T 5: 123,653,570 S179* probably null Het
Cmya5 A G 13: 93,093,505 S1692P possibly damaging Het
Cyp17a1 T C 19: 46,671,035 S119G probably benign Het
Fndc5 T C 4: 129,139,918 F160L probably benign Het
Muc5b T C 7: 141,864,363 V3682A probably damaging Het
Myh8 G T 11: 67,284,702 D328Y probably damaging Het
Olfr1226 T C 2: 89,193,897 T46A probably benign Het
Olfr566 C T 7: 102,856,616 C222Y probably benign Het
Olfr633 T C 7: 103,947,409 L281P probably damaging Het
Olfr713 T A 7: 107,036,335 M60K probably damaging Het
Olfr772 T C 10: 129,174,229 E264G probably benign Het
Pcdhb3 T C 18: 37,302,961 V660A possibly damaging Het
Pcyt2 T C 11: 120,615,932 D32G probably damaging Het
Pdzph1 A T 17: 58,974,234 V351D probably benign Het
Ribc2 C T 15: 85,132,913 Q51* probably null Het
Scn2a A G 2: 65,688,744 E438G probably damaging Het
Slc18a3 T C 14: 32,462,828 probably benign Het
Slc5a1 G A 5: 33,146,943 V296I probably benign Het
Slit3 A T 11: 35,670,101 T958S probably damaging Het
Spag8 C T 4: 43,652,114 probably benign Het
Susd3 A C 13: 49,238,782 S144R probably benign Het
Synpo2 T C 3: 123,114,179 E496G possibly damaging Het
Tbcel T C 9: 42,439,131 T269A probably benign Het
Tmem156 A G 5: 65,075,764 Y152H probably benign Het
Tmem247 A G 17: 86,918,429 E99G probably damaging Het
Tuba3b A G 6: 145,619,724 D306G possibly damaging Het
Vps13c T A 9: 67,951,642 D2791E possibly damaging Het
Ypel4 A G 2: 84,737,527 Y98C probably 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
IGL02527:Paxbp1 APN 16 91037273 missense possibly damaging 0.57
IGL02661:Paxbp1 APN 16 91030525 missense probably benign 0.43
IGL02796:Paxbp1 APN 16 91025294 unclassified 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
X0026:Paxbp1 UTSW 16 91027242 missense probably damaging 1.00
Posted On2016-08-02