Incidental Mutation 'IGL03082:Pou2f3'
ID 417929
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pou2f3
Ensembl Gene ENSMUSG00000032015
Gene Name POU domain, class 2, transcription factor 3
Synonyms Skn-1a, Otf-11, Epoc-1, Skn-li, Oct-11a, Skin, Oct11, Skin-1a, Otf11
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03082
Quality Score
Status
Chromosome 9
Chromosomal Location 43035222-43117052 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) C to A at 43058212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034513] [ENSMUST00000034513] [ENSMUST00000176636] [ENSMUST00000176636]
AlphaFold no structure available at present
Predicted Effect probably null
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 null
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 null
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 probably null
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asic1 T A 15: 99,594,428 (GRCm39) N324K probably benign Het
Atpaf2 T C 11: 60,294,670 (GRCm39) E251G probably damaging Het
Cacna1d T C 14: 29,821,190 (GRCm39) K1109E probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Chst1 C T 2: 92,444,278 (GRCm39) T250I possibly damaging Het
Cpne6 T C 14: 55,753,760 (GRCm39) L406P probably damaging Het
Cryz A G 3: 154,310,563 (GRCm39) M8V probably damaging Het
Dpysl2 T C 14: 67,045,459 (GRCm39) E438G probably damaging Het
Elovl1 T C 4: 118,288,077 (GRCm39) I71T probably benign Het
Eml2 T A 7: 18,935,802 (GRCm39) Y679N probably damaging Het
Fam185a G A 5: 21,660,836 (GRCm39) V284I possibly damaging Het
Fpgs C T 2: 32,575,769 (GRCm39) W391* probably null Het
Hdac11 C T 6: 91,150,085 (GRCm39) P295S probably damaging Het
Herc2 A T 7: 55,835,671 (GRCm39) I3260F probably benign Het
Hltf G A 3: 20,118,723 (GRCm39) probably benign Het
Immp2l T G 12: 41,160,900 (GRCm39) V66G possibly damaging Het
Lrrc4c T C 2: 97,460,931 (GRCm39) I519T probably benign Het
Megf8 A G 7: 25,029,661 (GRCm39) T402A probably benign Het
Mttp T G 3: 137,829,556 (GRCm39) I111L probably benign Het
Mycbp2 T A 14: 103,441,805 (GRCm39) I1987F probably benign Het
Ncr1 T A 7: 4,344,241 (GRCm39) probably benign Het
Nedd4 G A 9: 72,584,676 (GRCm39) probably null Het
Nherf4 A T 9: 44,162,083 (GRCm39) S39T possibly damaging Het
Nnt A G 13: 119,533,404 (GRCm39) F87S probably damaging Het
Nol6 A G 4: 41,115,878 (GRCm39) probably benign Het
Pkhd1 A T 1: 20,635,857 (GRCm39) I491N probably damaging Het
Plcxd2 T C 16: 45,785,473 (GRCm39) I311V probably damaging Het
Rgsl1 G A 1: 153,675,693 (GRCm39) T836I possibly damaging Het
Rttn G A 18: 89,002,072 (GRCm39) G328D probably damaging Het
Serpina11 T C 12: 103,952,560 (GRCm39) E77G probably benign Het
Slc35f1 G A 10: 52,809,234 (GRCm39) V74I probably benign Het
Slc7a6 A G 8: 106,919,854 (GRCm39) probably null Het
Smco2 A G 6: 146,761,542 (GRCm39) T154A possibly damaging Het
Tcerg1 A G 18: 42,706,422 (GRCm39) Y1033C probably damaging Het
Tmem87a A G 2: 120,227,847 (GRCm39) F100S possibly damaging Het
Tssk4 T C 14: 55,888,518 (GRCm39) F129S probably damaging Het
Wdr43 C T 17: 71,945,336 (GRCm39) T315I probably damaging Het
Other mutations in Pou2f3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Pou2f3 APN 9 43,040,188 (GRCm39) missense probably damaging 1.00
IGL00508:Pou2f3 APN 9 43,051,258 (GRCm39) missense probably benign 0.01
IGL00975:Pou2f3 APN 9 43,048,679 (GRCm39) missense probably benign
IGL01577:Pou2f3 APN 9 43,058,178 (GRCm39) nonsense probably null
IGL01871:Pou2f3 APN 9 43,045,768 (GRCm39) splice site probably benign
IGL02370:Pou2f3 APN 9 43,048,643 (GRCm39) missense probably damaging 1.00
IGL02674:Pou2f3 APN 9 43,050,628 (GRCm39) missense probably damaging 1.00
IGL02746:Pou2f3 APN 9 43,058,143 (GRCm39) missense probably benign 0.01
IGL02956:Pou2f3 APN 9 43,054,100 (GRCm39) splice site probably benign
IGL02962:Pou2f3 APN 9 43,036,384 (GRCm39) utr 3 prime probably benign
R0433:Pou2f3 UTSW 9 43,038,693 (GRCm39) missense probably benign 0.23
R0622:Pou2f3 UTSW 9 43,036,414 (GRCm39) missense probably damaging 1.00
R0926:Pou2f3 UTSW 9 43,058,198 (GRCm39) missense probably damaging 1.00
R1956:Pou2f3 UTSW 9 43,056,534 (GRCm39) missense probably benign
R4782:Pou2f3 UTSW 9 43,051,153 (GRCm39) missense probably damaging 0.97
R4877:Pou2f3 UTSW 9 43,050,618 (GRCm39) missense possibly damaging 0.58
R5070:Pou2f3 UTSW 9 43,056,578 (GRCm39) missense possibly damaging 0.52
R5910:Pou2f3 UTSW 9 43,045,769 (GRCm39) splice site probably null
R6280:Pou2f3 UTSW 9 43,050,635 (GRCm39) missense probably damaging 1.00
R6280:Pou2f3 UTSW 9 43,050,634 (GRCm39) missense probably damaging 1.00
R6465:Pou2f3 UTSW 9 43,051,162 (GRCm39) missense probably damaging 1.00
R7084:Pou2f3 UTSW 9 43,040,188 (GRCm39) missense probably damaging 1.00
R7161:Pou2f3 UTSW 9 43,050,658 (GRCm39) missense probably damaging 1.00
R8036:Pou2f3 UTSW 9 43,058,205 (GRCm39) missense probably damaging 1.00
R8406:Pou2f3 UTSW 9 43,051,153 (GRCm39) missense probably damaging 0.97
R8912:Pou2f3 UTSW 9 43,110,336 (GRCm39) missense probably benign 0.00
R9224:Pou2f3 UTSW 9 43,050,694 (GRCm39) missense probably damaging 1.00
R9329:Pou2f3 UTSW 9 43,040,224 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02