Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02962:Pou2f3'

365414

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 #

IGL02962

Quality Score

Status

Chromosome

Chromosomal Location

43123939-43210369 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 43125089 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000034513
Gene: ENSMUSG00000032015

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

SMART Domains

Protein: ENSMUSP00000135115
Gene: ENSMUSG00000032015

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,610,593		probably null	Het
9530068E07Rik	T	C	11: 52,403,535	V209A	possibly damaging	Het
Abca3	T	A	17: 24,400,409	V907E	probably damaging	Het
Acvrl1	T	C	15: 101,135,501	Y90H	probably benign	Het
Aff3	T	C	1: 38,535,656	D81G	probably damaging	Het
Amn	G	T	12: 111,274,517	V152L	probably damaging	Het
Arhgap44	A	G	11: 65,067,161		probably benign	Het
Atad5	T	A	11: 80,108,579	V895D	possibly damaging	Het
Card9	T	G	2: 26,358,017		probably null	Het
Ccer1	T	C	10: 97,693,840	S122P	unknown	Het
Ccr2	A	G	9: 124,105,675		probably benign	Het
Dsg1a	T	A	18: 20,340,324	I818N	possibly damaging	Het
Ear10	G	T	14: 43,923,317	L18I	probably damaging	Het
Gm13089	T	A	4: 143,697,340	E293V	probably benign	Het
Mertk	A	G	2: 128,777,454	Y544C	probably damaging	Het
Miga1	A	T	3: 152,285,341		probably benign	Het
Myo18a	T	C	11: 77,778,235	V307A	probably damaging	Het
Olfr1354	T	A	10: 78,916,939	L33H	probably damaging	Het
Olfr488	A	T	7: 108,255,703	I145N	possibly damaging	Het
Prickle2	A	C	6: 92,376,422	S744A	probably benign	Het
Prkcb	T	A	7: 122,425,047		probably null	Het
Prkd2	A	G	7: 16,869,832	T813A	probably benign	Het
Prkra	G	A	2: 76,633,547	T257M	probably damaging	Het
Rbm18	C	T	2: 36,122,874	R102Q	probably damaging	Het
Rbsn	A	G	6: 92,190,326	S446P	probably benign	Het
Rpgrip1l	A	T	8: 91,270,362	V28D	possibly damaging	Het
Sdccag8	A	T	1: 176,948,362	K613I	probably damaging	Het
Serbp1	G	A	6: 67,267,119	G8D	probably damaging	Het
Slc6a2	T	A	8: 92,972,762	Y139*	probably null	Het
Slc7a2	T	A	8: 40,905,584	F321L	probably damaging	Het
Slco1b2	G	A	6: 141,648,553	S48N	probably damaging	Het
Ssbp2	G	T	13: 91,642,371	V118L	possibly damaging	Het
Sugp1	T	A	8: 70,059,862		probably benign	Het
Taar5	C	A	10: 23,970,985	R94S	possibly damaging	Het
Tgs1	G	T	4: 3,586,181	A353S	probably benign	Het
Trav1	A	G	14: 52,428,642	E32G	probably damaging	Het
Trp53bp2	T	C	1: 182,431,595	V71A	probably benign	Het
Vmn2r50	T	C	7: 10,050,325	Y74C	probably damaging	Het
Wars	A	T	12: 108,875,780	M147K	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
IGL00975:Pou2f3	APN	9	43137384	missense	probably benign
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
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

2015-12-18