Incidental Mutation 'IGL01871:Pou2f3'
ID178729
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 #IGL01871
Quality Score
Status
Chromosome9
Chromosomal Location43123939-43210369 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 43134473 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034513] [ENSMUST00000176636]
Predicted Effect probably benign
Transcript: ENSMUST00000034513
SMART Domains Protein: ENSMUSP00000034513
Gene: ENSMUSG00000032015

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
SMART Domains Protein: ENSMUSP00000135115
Gene: ENSMUSG00000032015

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,472,394 probably null Het
Aqp7 G A 4: 41,045,321 R20* probably null Het
Asxl2 G T 12: 3,502,112 V1285L probably benign Het
Bdp1 A T 13: 100,066,053 S688T probably benign Het
Cc2d2a A T 5: 43,688,969 I357F probably damaging Het
Clasp1 A T 1: 118,570,889 I884F probably damaging Het
Cpne4 T G 9: 104,925,757 M200R possibly damaging Het
Cyp2d10 T A 15: 82,403,885 D180V probably damaging Het
Dicer1 A T 12: 104,704,180 V1042D probably damaging Het
Dlc1 G A 8: 36,850,180 T447I probably damaging Het
Efl1 T C 7: 82,763,319 M972T possibly damaging Het
Erbin A G 13: 103,834,766 S781P probably damaging Het
Fam46b A G 4: 133,486,309 I164V possibly damaging Het
Galnt4 G A 10: 99,109,241 G276D probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gmppa A G 1: 75,437,017 I41V probably damaging Het
Golga1 C T 2: 39,050,198 probably benign Het
H2-Ob G T 17: 34,242,545 W86L probably damaging Het
Hnrnpr G A 4: 136,339,574 R482H unknown Het
L2hgdh T C 12: 69,722,095 E81G probably damaging Het
Mre11a T C 9: 14,811,897 V389A possibly damaging Het
Mxra8 A G 4: 155,842,801 T372A probably benign Het
Ncapg T A 5: 45,688,581 S593R probably benign Het
Ndufaf1 C T 2: 119,658,287 W250* probably null Het
Neb T C 2: 52,153,069 E6783G probably damaging Het
Nmt2 T C 2: 3,312,674 Y175H probably damaging Het
Olfml2b T C 1: 170,662,355 probably benign Het
Pitpnm3 T A 11: 72,056,138 M812L probably damaging Het
Prkdc A G 16: 15,783,087 T2871A probably benign Het
Rapgef4 A G 2: 72,198,360 T392A possibly damaging Het
Rhov G T 2: 119,270,738 Q71K probably benign Het
Slc22a15 T C 3: 101,860,794 probably benign Het
Spaca1 T A 4: 34,040,894 N22Y probably damaging Het
Stmnd1 A G 13: 46,289,713 E107G probably damaging Het
Timm22 T C 11: 76,407,437 V78A probably damaging Het
Usp47 T C 7: 112,077,786 probably benign Het
Utp4 A C 8: 106,912,317 K419T probably benign Het
Zfp410 T C 12: 84,325,791 probably null 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
IGL00975:Pou2f3 APN 9 43137384 missense probably benign
IGL01577:Pou2f3 APN 9 43146881 nonsense probably null
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
Posted On2014-05-07