Mutagenetix > Incidental Mutation

Incidental Mutation 'R5084:Pou4f3'

387344

Institutional Source

Beutler Lab

Gene Symbol

Pou4f3

Ensembl Gene

ENSMUSG00000024497

Gene Name

POU domain, class 4, transcription factor 3

Synonyms

Brn-3.1, Brn3.1, Brn3c

MMRRC Submission

042673-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R5084 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42527662-42529158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42528933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 292 (Y292F)

Ref Sequence

ENSEMBL: ENSMUSP00000025374 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025374]

AlphaFold

Q63955

Predicted Effect

probably damaging
Transcript: ENSMUST00000025374
AA Change: Y292F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025374
Gene: ENSMUSG00000024497
AA Change: Y292F

Domain	Start	End	E-Value	Type
low complexity region	53	62	N/A	INTRINSIC
low complexity region	84	98	N/A	INTRINSIC
POU	179	256	4.97e-51	SMART
HOX	274	336	5.76e-18	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.4%

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 proteins have been observed to play important roles in control of cell identity in several systems. This protein is found in the retina and may play a role in determining or maintaining the identities of a small subset of visual system neurons. Defects in this gene are the cause of non-syndromic sensorineural deafness autosomal dominant type 15. [provided by RefSeq, Mar 2009]
PHENOTYPE: Affected mice are slightly smaller than their littermates and exhibit vertical head-tossing, circling and general hyperactive behavior typical of the shaker-waltzer class of mutants. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	T	A	9: 104,204,116 (GRCm39)	E59D	probably damaging	Het
Akap7	T	A	10: 25,155,640 (GRCm39)		probably benign	Het
Anpep	C	A	7: 79,476,618 (GRCm39)		probably null	Het
Aste1	T	A	9: 105,274,886 (GRCm39)	Y314*	probably null	Het
Ccdc183	G	A	2: 25,498,802 (GRCm39)	T497I	probably damaging	Het
Cd4	A	T	6: 124,847,402 (GRCm39)	I254N	probably damaging	Het
Crot	G	T	5: 9,019,994 (GRCm39)	H449Q	probably damaging	Het
Dact2	A	T	17: 14,418,214 (GRCm39)	W164R	possibly damaging	Het
Dapk3	C	A	10: 81,026,152 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Fbrsl1	G	A	5: 110,527,272 (GRCm39)		probably benign	Het
Flg	T	C	3: 93,184,922 (GRCm39)	F15L	probably damaging	Het
Fscn2	A	G	11: 120,252,686 (GRCm39)	D51G	probably damaging	Het
H2-Ob	G	T	17: 34,460,102 (GRCm39)	G71V	probably damaging	Het
Hmgcs1	T	C	13: 120,161,520 (GRCm39)	V104A	possibly damaging	Het
Hs3st4	G	T	7: 123,996,518 (GRCm39)	D395Y	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Ldlrad3	G	A	2: 101,900,329 (GRCm39)	R58C	probably damaging	Het
Lpin1	A	G	12: 16,626,983 (GRCm39)	S188P	probably damaging	Het
Mamdc2	G	T	19: 23,336,516 (GRCm39)	T331K	possibly damaging	Het
Matr3	G	A	18: 35,715,135 (GRCm39)	S195N	probably damaging	Het
Nktr	T	C	9: 121,577,176 (GRCm39)	Y390H	possibly damaging	Het
Notch3	C	T	17: 32,376,864 (GRCm39)		probably null	Het
Olfm3	T	C	3: 114,698,202 (GRCm39)		probably null	Het
Or10ak11	A	G	4: 118,686,767 (GRCm39)	V290A	probably damaging	Het
Or2a20	T	C	6: 43,194,594 (GRCm39)	L249P	probably damaging	Het
Or5h25	C	T	16: 58,930,436 (GRCm39)	C179Y	possibly damaging	Het
Or7e173	T	A	9: 19,938,551 (GRCm39)	I228F	probably damaging	Het
Or7g17	T	A	9: 18,768,632 (GRCm39)	M237K	probably benign	Het
Pask	A	G	1: 93,249,819 (GRCm39)	V527A	probably benign	Het
Pcdha6	A	T	18: 37,102,016 (GRCm39)	N403I	probably damaging	Het
Peg3	T	C	7: 6,710,848 (GRCm39)	E1458G	probably damaging	Het
Pip4k2b	G	A	11: 97,610,569 (GRCm39)	T386M	probably damaging	Het
Pkd1l1	T	C	11: 8,892,004 (GRCm39)	M272V	probably benign	Het
Plcb4	A	G	2: 135,844,571 (GRCm39)	E163G	probably damaging	Het
Plk5	C	A	10: 80,194,723 (GRCm39)	R149S	possibly damaging	Het
Rasgef1c	A	G	11: 49,860,332 (GRCm39)	K272E	probably damaging	Het
Rbl2	C	T	8: 91,841,759 (GRCm39)	T942M	probably benign	Het
Sipa1l3	G	A	7: 29,048,000 (GRCm39)	S247F	probably damaging	Het
Smarca4	T	C	9: 21,572,059 (GRCm39)	L777P	probably damaging	Het
Smpd1	T	C	7: 105,206,185 (GRCm39)	Y438H	probably damaging	Het
Sorl1	T	C	9: 41,887,673 (GRCm39)	K2052R	probably benign	Het
Spata31d1c	C	A	13: 65,182,944 (GRCm39)	P162Q	probably damaging	Het
Spmip9	A	G	6: 70,892,688 (GRCm39)	S20P	possibly damaging	Het
Ston1	A	T	17: 88,944,002 (GRCm39)	E469D	probably benign	Het
Syde2	AGTTC	AGTTCGTTC	3: 145,707,164 (GRCm39)		probably null	Het
Syde2	CAGTT	CAGTTAGTT	3: 145,707,163 (GRCm39)		probably null	Het
Taar5	T	A	10: 23,846,836 (GRCm39)	L78Q	probably damaging	Het
Tas2r114	A	T	6: 131,666,251 (GRCm39)	L259*	probably null	Het
Topaz1	T	A	9: 122,577,883 (GRCm39)	H264Q	probably benign	Het
Vcl	G	T	14: 21,059,027 (GRCm39)	V548L	possibly damaging	Het
Vmn2r57	C	A	7: 41,075,974 (GRCm39)		probably null	Het
Vmn2r92	A	G	17: 18,405,439 (GRCm39)	*861W	probably null	Het
Ylpm1	T	G	12: 85,076,095 (GRCm39)	V940G	probably damaging	Het
Zfp236	A	G	18: 82,627,556 (GRCm39)	S1500P	probably damaging	Het
Zfp384	G	T	6: 125,000,642 (GRCm39)		probably benign	Het
Zfp786	T	C	6: 47,796,953 (GRCm39)	M662V	probably benign	Het

Other mutations in Pou4f3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01135:Pou4f3	APN	18	42,529,031 (GRCm39)	nonsense	probably null
PIT4472001:Pou4f3	UTSW	18	42,527,717 (GRCm39)	missense	probably benign	0.30
R2899:Pou4f3	UTSW	18	42,528,588 (GRCm39)	missense	probably benign	0.00
R4107:Pou4f3	UTSW	18	42,528,987 (GRCm39)	missense	probably damaging	1.00
R4108:Pou4f3	UTSW	18	42,528,987 (GRCm39)	missense	probably damaging	1.00
R4799:Pou4f3	UTSW	18	42,529,052 (GRCm39)	missense	possibly damaging	0.46
R5366:Pou4f3	UTSW	18	42,528,819 (GRCm39)	missense	probably damaging	0.99
R5560:Pou4f3	UTSW	18	42,528,480 (GRCm39)	missense	probably benign	0.00
R6624:Pou4f3	UTSW	18	42,528,707 (GRCm39)	missense	probably damaging	0.99
R7492:Pou4f3	UTSW	18	42,528,996 (GRCm39)	missense	probably damaging	1.00
R7816:Pou4f3	UTSW	18	42,528,251 (GRCm39)	missense	probably benign	0.03
R8460:Pou4f3	UTSW	18	42,529,053 (GRCm39)	missense	probably damaging	0.97
R8469:Pou4f3	UTSW	18	42,528,339 (GRCm39)	missense	probably benign	0.00
R8715:Pou4f3	UTSW	18	42,528,593 (GRCm39)	missense	possibly damaging	0.67
R8716:Pou4f3	UTSW	18	42,528,593 (GRCm39)	missense	possibly damaging	0.67
R9350:Pou4f3	UTSW	18	42,528,329 (GRCm39)	missense	probably benign	0.00
R9423:Pou4f3	UTSW	18	42,528,959 (GRCm39)	missense	probably damaging	1.00
R9577:Pou4f3	UTSW	18	42,528,563 (GRCm39)	missense	probably benign
Z1177:Pou4f3	UTSW	18	42,528,974 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTACTCTGTCGCACAACAACATG -3'
(R):5'- AGGAAACACCCTGGAGTGTC -3'

Sequencing Primer
(F):5'- ATGATCGCTCTCAAGCCG -3'
(R):5'- TGGAGTGTCCCGTAACGTC -3'

Posted On

2016-06-06