Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01135:Pou4f3'

53197

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pou4f3

Ensembl Gene

ENSMUSG00000024497

Gene Name

POU domain, class 4, transcription factor 3

Synonyms

Brn-3.1, Brn3.1, Brn3c

Accession Numbers

Essential gene?

Probably essential (E-score: 0.882) question?

Stock #

IGL01135

Quality Score

Status

Chromosome

Chromosomal Location

42527662-42529158 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 42529031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 325 (Q325*)

Ref Sequence

ENSEMBL: ENSMUSP00000025374 (fasta)

Gene Model

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

AlphaFold

Q63955

Predicted Effect

probably null
Transcript: ENSMUST00000025374
AA Change: Q325*

SMART Domains

Protein: ENSMUSP00000025374
Gene: ENSMUSG00000024497
AA Change: Q325*

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
5730507C01Rik	G	A	12: 18,583,375 (GRCm39)	R145H	possibly damaging	Het
Acox3	T	A	5: 35,746,096 (GRCm39)	V93E	probably benign	Het
Ankar	T	C	1: 72,704,378 (GRCm39)	N848S	probably benign	Het
Blzf1	A	G	1: 164,131,499 (GRCm39)		probably benign	Het
Cc2d1a	G	T	8: 84,870,033 (GRCm39)	H161N	probably benign	Het
Ceacam23	A	T	7: 17,636,396 (GRCm39)		noncoding transcript	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Ckmt1	A	C	2: 121,191,631 (GRCm39)	D267A	probably damaging	Het
Dtl	G	T	1: 191,280,442 (GRCm39)	T364K	probably damaging	Het
Fat1	T	A	8: 45,477,877 (GRCm39)	F2308I	probably damaging	Het
Fbxo41	A	T	6: 85,454,890 (GRCm39)	S673T	probably benign	Het
Flnb	G	A	14: 7,909,736 (GRCm38)	V1397I	probably benign	Het
Gdi2	A	G	13: 3,598,855 (GRCm39)		probably benign	Het
Grik3	C	T	4: 125,526,208 (GRCm39)	T147I	probably benign	Het
Htr1a	T	C	13: 105,581,792 (GRCm39)	V344A	possibly damaging	Het
Isg20l2	A	T	3: 87,839,068 (GRCm39)	D93V	probably damaging	Het
Kcnt2	T	C	1: 140,282,293 (GRCm39)		probably null	Het
Mfsd4b3-ps	A	G	10: 39,824,068 (GRCm39)	M64T	probably benign	Het
Nox3	T	A	17: 3,746,527 (GRCm39)		probably benign	Het
Or2ag12	C	T	7: 106,277,400 (GRCm39)	A98T	probably benign	Het
Pikfyve	T	A	1: 65,290,794 (GRCm39)	N1204K	probably damaging	Het
Rap1a	T	A	3: 105,639,351 (GRCm39)	T103S	probably benign	Het
Rfc4	G	A	16: 22,934,526 (GRCm39)	R165C	probably damaging	Het
Smtnl1	A	G	2: 84,649,231 (GRCm39)	S8P	probably benign	Het
Syt17	C	T	7: 117,981,270 (GRCm39)	G351S	possibly damaging	Het
Tcf20	T	A	15: 82,738,101 (GRCm39)	M1117L	probably benign	Het
Tent5a	A	G	9: 85,208,652 (GRCm39)	V57A	probably damaging	Het
Tgfbr3	A	T	5: 107,362,894 (GRCm39)	H39Q	probably damaging	Het
Trdmt1	T	C	2: 13,526,071 (GRCm39)		probably null	Het
Twf2	A	G	9: 106,090,027 (GRCm39)	I127V	probably benign	Het
Unc13c	A	G	9: 73,392,175 (GRCm39)	V2059A	probably damaging	Het

Other mutations in Pou4f3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5084:Pou4f3	UTSW	18	42,528,933 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2013-06-21