|Institutional Source||Beutler Lab|
|Gene Name||POU domain, class 4, transcription factor 1|
|Synonyms||E130119J07Rik, Brn-3, Brn-3.0, Brn3, Brn3a|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4155 (G1)|
|Chromosomal Location||104461676-104467999 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 104467717 bp|
|Amino Acid Change||Serine to Asparagine at position 6 (S6N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000060798 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000053016]|
|Predicted Effect||possibly damaging
AA Change: S6N
PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: S6N
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the POU-IV class of neural transcription factors. This protein is expressed in a subset of retinal ganglion cells and may be involved in the developing sensory nervous system. This protein may also promote the growth of cervical tumors. A translocation of this gene is associated with some adult acute myeloid leukemias. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene die within the first day after birth and display various abnormalities in the brain and cranial nerves. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pou4f1||
(F):5'- ATCCCTCTAAGAGCAGTCCC -3'
(R):5'- TCACTATAAGAGCGGCTCCC -3'
(F):5'- TAAGAGCAGTCCCGCCCG -3'
(R):5'- GCTAGAGCTCTCGGAGAAGC -3'