Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00975:Pou2f3'

28257

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pou2f3

Ensembl Gene

ENSMUSG00000032015

Gene Name

POU domain, class 2, transcription factor 3

Synonyms

Otf-11, Epoc-1, Oct11, Skin, Skn-li, Skn-1a, Oct-11a, Skin-1a, Otf11

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00975

Quality Score

Status

Chromosome

Chromosomal Location

43123939-43210369 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43137384 bp (GRCm38)

Zygosity

Heterozygous

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]

AlphaFold

no structure available at present

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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		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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R8036:Pou2f3	UTSW	9	43146908	missense	probably damaging	1.00
R8406:Pou2f3	UTSW	9	43139858	missense	probably damaging	0.97
R8912:Pou2f3	UTSW	9	43199039	missense	probably benign	0.00
R9224:Pou2f3	UTSW	9	43139399	missense	probably damaging	1.00
R9329:Pou2f3	UTSW	9	43128929	missense	probably damaging	1.00

Posted On

2013-04-17