Incidental Mutation 'IGL00975:Pou2f3'
ID28257
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pou2f3
Ensembl Gene ENSMUSG00000032015
Gene NamePOU domain, class 2, transcription factor 3
SynonymsOtf-11, Epoc-1, Oct11, Skin, Skn-li, Skn-1a, Oct-11a, Skin-1a, Otf11
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00975
Quality Score
Status
Chromosome9
Chromosomal Location43123939-43210369 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 43137384 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 266 (T266A)
Ref Sequence ENSEMBL: ENSMUSP00000135115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034513] [ENSMUST00000176636]
Predicted Effect probably benign
Transcript: ENSMUST00000034513
AA Change: T254A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034513
Gene: ENSMUSG00000032015
AA Change: T254A

DomainStartEndE-ValueType
low complexity region 107 122 N/A INTRINSIC
low complexity region 150 162 N/A INTRINSIC
POU 164 238 1.47e-53 SMART
low complexity region 239 256 N/A INTRINSIC
HOX 262 324 8.39e-20 SMART
low complexity region 337 352 N/A INTRINSIC
low complexity region 362 378 N/A INTRINSIC
low complexity region 386 408 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176636
AA Change: T266A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135115
Gene: ENSMUSG00000032015
AA Change: T266A

DomainStartEndE-ValueType
low complexity region 119 134 N/A INTRINSIC
low complexity region 162 174 N/A INTRINSIC
POU 176 250 1.47e-53 SMART
low complexity region 251 268 N/A INTRINSIC
HOX 274 336 8.39e-20 SMART
low complexity region 349 364 N/A INTRINSIC
low complexity region 374 390 N/A INTRINSIC
low complexity region 398 420 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213862
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 member of the POU domain family of transcription factors. POU domain transcription factors bind to a specific octamer DNA motif and regulate cell type-specific differentiation pathways. The encoded protein is primarily expressed in the epidermis, and plays a critical role in keratinocyte proliferation and differentiation. The encoded protein is also a candidate tumor suppressor protein, and aberrant promoter methylation of this gene may play a role in cervical cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for one null mutation exhibit defective keratinocyte differentiation, however the skin and coat appear normal. Mice homozygous for another null mutation display loss of sweet, umami and bitter taste perception and expansion of sour taste receptor cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn10 A T 15: 85,336,465 M1L probably benign Het
Atxn7l3 A G 11: 102,294,981 S3P probably benign Het
Ccdc114 A T 7: 45,942,656 K320I probably damaging Het
Cep112 A G 11: 108,434,186 D70G probably damaging Het
Col20a1 G A 2: 180,992,478 A79T probably damaging Het
Cycs T A 6: 50,565,367 D63V probably benign Het
Dis3 A G 14: 99,079,234 V855A probably damaging Het
Dnah6 T A 6: 73,173,390 I797F possibly damaging Het
Dpagt1 T C 9: 44,332,652 probably null Het
Dst T C 1: 34,188,312 I1840T possibly damaging Het
Epb41l3 C T 17: 69,207,861 probably benign Het
Fam20c C T 5: 138,809,157 H514Y probably benign Het
Fgd6 A T 10: 94,134,076 M1196L probably damaging Het
Fmo3 T C 1: 162,964,030 D226G probably benign Het
Fsd1l T C 4: 53,682,187 L263P probably damaging Het
Gaa C A 11: 119,274,683 T333K possibly damaging Het
Gm10530 T C 1: 159,684,874 probably benign Het
Gm5458 A G 14: 19,599,667 L163P probably damaging Het
Inpp5j T C 11: 3,502,176 N358S probably damaging Het
Ms4a8a A G 19: 11,070,787 L193P probably damaging Het
Neb T C 2: 52,212,728 K4511R probably benign Het
Olfr1436 A G 19: 12,298,785 S116P probably damaging Het
Pcca A G 14: 122,876,900 D82G probably damaging Het
Ppp1r26 T A 2: 28,453,718 L1120Q probably damaging Het
Pudp T G 18: 50,568,278 K128T probably damaging Het
Rcn1 T C 2: 105,394,829 T94A possibly damaging Het
Six5 T C 7: 19,097,678 L698P probably damaging Het
Slc13a4 T A 6: 35,274,975 M461L probably benign Het
Slc30a9 T C 5: 67,349,826 V487A probably damaging Het
Tbx21 T C 11: 97,100,082 I257V possibly damaging Het
Tg A G 15: 66,681,882 D382G probably benign Het
Trim34b C A 7: 104,329,652 C35* probably null Het
Usp47 A G 7: 112,093,370 D1013G probably damaging Het
Other mutations in Pou2f3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Pou2f3 APN 9 43128893 missense probably damaging 1.00
IGL00508:Pou2f3 APN 9 43139963 missense probably benign 0.01
IGL01577:Pou2f3 APN 9 43146881 nonsense probably null
IGL01871:Pou2f3 APN 9 43134473 splice site probably benign
IGL02370:Pou2f3 APN 9 43137348 missense probably damaging 1.00
IGL02674:Pou2f3 APN 9 43139333 missense probably damaging 1.00
IGL02746:Pou2f3 APN 9 43146846 missense probably benign 0.01
IGL02956:Pou2f3 APN 9 43142805 splice site probably benign
IGL02962:Pou2f3 APN 9 43125089 utr 3 prime probably benign
IGL03082:Pou2f3 APN 9 43146915 critical splice acceptor site probably null
R0433:Pou2f3 UTSW 9 43127398 missense probably benign 0.23
R0622:Pou2f3 UTSW 9 43125119 missense probably damaging 1.00
R0926:Pou2f3 UTSW 9 43146901 missense probably damaging 1.00
R1956:Pou2f3 UTSW 9 43145237 missense probably benign
R4782:Pou2f3 UTSW 9 43139858 missense probably damaging 0.97
R4877:Pou2f3 UTSW 9 43139323 missense possibly damaging 0.58
R5070:Pou2f3 UTSW 9 43145281 missense possibly damaging 0.52
R5910:Pou2f3 UTSW 9 43134474 splice site probably null
R6280:Pou2f3 UTSW 9 43139339 missense probably damaging 1.00
R6280:Pou2f3 UTSW 9 43139340 missense probably damaging 1.00
R6465:Pou2f3 UTSW 9 43139867 missense probably damaging 1.00
R7084:Pou2f3 UTSW 9 43128893 missense probably damaging 1.00
R7161:Pou2f3 UTSW 9 43139363 missense probably damaging 1.00
Posted On2013-04-17