|Institutional Source||Beutler Lab|
|Gene Name||POU domain, class 4, transcription factor 3|
|Synonyms||Brn3c, Brn-3.1, Brn3.1|
|Is this an essential gene?||Possibly essential (E-score: 0.748)|
|Stock #||R6624 (G1)|
|Chromosomal Location||42394539-42397249 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 42395642 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 217 (I217F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025374 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025374]|
|Predicted Effect||probably damaging
AA Change: I217F
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: I217F
|Meta Mutation Damage Score||0.2187|
|Coding Region Coverage||
|Validation Efficiency||100% (32/32)|
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||
|Other mutations in Pou4f3||
(F):5'- AGATCCACCCGCATCATCTAGG -3'
(R):5'- AATAGGCTTCGAGTGAGCG -3'
(F):5'- ACTTGCATCAGGCCATGG -3'
(R):5'- GCTTCGAGTGAGCGCTTCTC -3'