Mutagenetix > Incidental Mutation

Incidental Mutation 'R4782:Pou2f3'

366616

Institutional Source

Beutler Lab

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 #

R4782 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43123939-43210369 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43139858 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 178 (T178A)

Ref Sequence

ENSEMBL: ENSMUSP00000034513 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034513] [ENSMUST00000176636]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034513
AA Change: T178A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034513
Gene: ENSMUSG00000032015
AA Change: T178A

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 damaging
Transcript: ENSMUST00000176636
AA Change: T190A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135115
Gene: ENSMUSG00000032015
AA Change: T190A

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

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

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: 121 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,328,096	E3092G	probably damaging	Het
Abhd12b	C	G	12: 70,169,064	S170C	probably damaging	Het
Abtb2	A	T	2: 103,717,299	D1006V	probably benign	Het
Adgrl1	A	G	8: 83,935,573	H1021R	probably benign	Het
Ago3	A	T	4: 126,347,872		probably null	Het
Ahnak	A	G	19: 9,012,499		probably benign	Het
Akap6	CA	C	12: 52,887,623		probably null	Het
Amotl2	T	G	9: 102,720,123		probably null	Het
Ankrd34b	T	A	13: 92,438,305	I15N	probably damaging	Het
Ap3d1	C	T	10: 80,721,586		probably null	Het
Appl2	A	T	10: 83,600,991	D635E	probably damaging	Het
Arid1b	C	T	17: 5,339,221	P1681S	probably damaging	Het
Atp10a	T	C	7: 58,791,095	M496T	probably benign	Het
Atp2c2	A	G	8: 119,749,152	K595E	probably damaging	Het
Atpaf2	T	C	11: 60,404,412	H204R	probably damaging	Het
Atr	G	A	9: 95,862,797	V56I	probably benign	Het
Bod1l	G	A	5: 41,833,663	T183I	probably benign	Het
Btbd11	A	C	10: 85,654,550	I1027L	probably damaging	Het
Ccdc171	A	T	4: 83,681,016	E689D	probably damaging	Het
Cdc73	T	A	1: 143,627,875	Q346L	probably benign	Het
Chd2	A	T	7: 73,484,436	M721K	possibly damaging	Het
Col22a1	T	A	15: 71,801,925	T981S	unknown	Het
Col4a3bp	T	C	13: 96,612,265	V281A	probably benign	Het
Cpox	G	A	16: 58,672,623	A207T	probably damaging	Het
Cym	G	A	3: 107,216,097	T160I	possibly damaging	Het
D130043K22Rik	T	C	13: 24,878,040	I664T	probably damaging	Het
Ddx4	C	T	13: 112,613,696		probably null	Het
Ddx4	A	T	13: 112,651,360	V15E	probably benign	Het
Depdc1a	G	A	3: 159,526,636	E675K	probably damaging	Het
Dglucy	A	T	12: 100,850,343	M415L	probably benign	Het
Dlg4	C	T	11: 70,026,954	P21L	probably damaging	Het
Dmxl1	A	T	18: 49,862,992	N395I	probably damaging	Het
Dzank1	A	T	2: 144,504,399	C249S	probably damaging	Het
Efnb2	A	T	8: 8,623,104		probably null	Het
Ercc6l2	T	G	13: 63,834,738	I244S	probably damaging	Het
Ewsr1	A	T	11: 5,070,423	M584K	unknown	Het
Fam193b	A	G	13: 55,543,471	S197P	probably damaging	Het
Fanca	A	G	8: 123,288,202	V689A	probably damaging	Het
Fbxo31	A	T	8: 121,552,439	Y436*	probably null	Het
Fbxo31	A	G	8: 121,552,441	Y436H	probably damaging	Het
Fcna	T	A	2: 25,625,326	D215V	probably damaging	Het
Foxj3	A	T	4: 119,621,660	S438C	unknown	Het
Gcm2	T	C	13: 41,103,494	K260E	possibly damaging	Het
Gcnt4	A	T	13: 96,947,406	L403F	possibly damaging	Het
Gdf10	A	G	14: 33,931,913	T126A	probably benign	Het
Ggcx	A	G	6: 72,428,892	K569E	probably benign	Het
Gm10250	C	T	15: 5,121,096		probably benign	Het
Gm8251	T	C	1: 44,059,043	D965G	possibly damaging	Het
Gpnmb	G	T	6: 49,045,483		probably null	Het
Ifi44	G	A	3: 151,745,592	P241S	probably damaging	Het
Irs1	T	C	1: 82,287,463	T1011A	probably benign	Het
Jag2	A	T	12: 112,914,249	S595T	probably benign	Het
Kif5a	T	A	10: 127,230,954	Q960L	probably benign	Het
Kifc2	A	G	15: 76,664,348	E430G	possibly damaging	Het
Lama3	T	A	18: 12,411,570	C323*	probably null	Het
Lgsn	T	C	1: 31,203,742	Y302H	probably benign	Het
Lmbrd1	G	A	1: 24,744,975		probably null	Het
Lrpap1	A	G	5: 35,099,278	V120A	probably damaging	Het
Macrod2	T	A	2: 140,419,938	D46E	possibly damaging	Het
Mbd4	C	A	6: 115,845,322	R63L	possibly damaging	Het
Mfsd10	T	C	5: 34,634,949		probably benign	Het
Mib2	G	T	4: 155,659,772	S144R	probably benign	Het
Muc5b	T	A	7: 141,847,716	C566*	probably null	Het
Ndufs1	C	A	1: 63,160,949	G268V	probably damaging	Het
Nfs1	A	G	2: 156,134,449	V175A	possibly damaging	Het
Ngb	G	A	12: 87,100,225	H73Y	probably benign	Het
Npepps	G	A	11: 97,226,826	T549I	probably damaging	Het
Nr1h2	A	G	7: 44,550,499	V329A	possibly damaging	Het
Nsun6	T	C	2: 15,036,326	I151M	possibly damaging	Het
Ofcc1	T	C	13: 40,001,892		probably null	Het
Olfr1388	T	A	11: 49,443,869	F6Y	probably benign	Het
Olfr262	C	T	19: 12,241,572	V30I	probably benign	Het
Olfr372	A	G	8: 72,058,094	N138S	probably benign	Het
Olfr391-ps	C	T	11: 73,798,839	C306Y	probably benign	Het
Olfr555	T	A	7: 102,658,834	N4K	possibly damaging	Het
Olfr910	A	G	9: 38,539,075	Y60C	probably damaging	Het
Parp6	A	G	9: 59,634,984		probably null	Het
Pcnt	C	A	10: 76,409,577	R1075S	possibly damaging	Het
Pla2g4f	T	C	2: 120,303,276	E548G	probably damaging	Het
Polrmt	G	T	10: 79,739,523	H725N	probably benign	Het
Prtn3	C	A	10: 79,882,065	P169H	probably damaging	Het
Ptprd	A	G	4: 76,091,532	I764T	probably benign	Het
Ptprh	A	T	7: 4,569,577	H467Q	probably benign	Het
Raph1	A	T	1: 60,489,114	I996N	probably damaging	Het
Rasa4	G	A	5: 136,091,229	W53*	probably null	Het
Rasgrp1	C	T	2: 117,284,875	R744Q	probably benign	Het
Rmnd5a	T	C	6: 71,413,349	E141G	probably damaging	Het
Rps12	T	C	10: 23,786,790	I51M	possibly damaging	Het
Scn10a	T	G	9: 119,622,910	S1316R	possibly damaging	Het
Sdhb	A	G	4: 140,977,466	H246R	possibly damaging	Het
Setx	G	A	2: 29,144,046	R332Q	probably damaging	Het
Siglec1	A	C	2: 131,075,923	S1011R	probably damaging	Het
Sin3b	A	C	8: 72,725,643	I126L	probably benign	Het
Slc11a1	T	G	1: 74,384,088	L366R	probably damaging	Het
Slc12a1	C	T	2: 125,161,079	R177*	probably null	Het
Slc30a1	A	C	1: 191,909,048	K269Q	probably benign	Het
Slco1a5	T	C	6: 142,248,807	Y370C	possibly damaging	Het
Slf2	T	A	19: 44,934,925		probably null	Het
Sltm	A	G	9: 70,589,057	H958R	probably damaging	Het
Snrnp40	A	G	4: 130,362,756	I91M	probably damaging	Het
Spta1	A	T	1: 174,230,666	Q1900L	probably benign	Het
Srgn	C	T	10: 62,497,852	E49K	possibly damaging	Het
Ssu2	A	C	6: 112,376,450	C238G	probably damaging	Het
Terf2	G	T	8: 107,076,675	H425Q	probably benign	Het
Thra	G	A	11: 98,756,164	S37N	probably benign	Het
Toporsl	A	G	4: 52,610,845	D246G	probably damaging	Het
Ubap2l	G	A	3: 90,020,903	T553M	probably damaging	Het
Usp10	A	G	8: 119,941,191	Y77C	probably benign	Het
Utrn	T	C	10: 12,750,069	T123A	probably damaging	Het
Vmn1r204	T	G	13: 22,556,697	F166C	probably benign	Het
Vmn2r14	T	C	5: 109,221,504	I68V	probably benign	Het
Wls	C	T	3: 159,897,445	T165I	probably benign	Het
Wsb1	A	G	11: 79,240,373	M399T	probably benign	Het
Xbp1	C	T	11: 5,521,167	T58M	probably damaging	Het
Zbtb46	A	T	2: 181,391,136	D577E	probably benign	Het
Zfp366	A	G	13: 99,246,483	D718G	probably damaging	Het
Zfp408	A	T	2: 91,645,024	V595E	possibly damaging	Het
Zfp493	T	A	13: 67,786,203	W60R	probably null	Het
Zfp606	A	T	7: 12,494,005	K626N	probably damaging	Het
Zfp820	A	T	17: 21,818,985	L454Q	probably benign	Het
Zswim5	A	G	4: 116,972,972	I515V	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TAGGCTGGACCATGCCATTTC -3'
(R):5'- GTAGCTTACCATAGCGTGTGTTC -3'

Sequencing Primer
(F):5'- TCGATCTCCCCGAGCAATG -3'
(R):5'- ACCATAGCGTGTGTTCCTTATCAGG -3'

Posted On

2015-12-29