Incidental Mutation 'IGL01135:Pou4f3'
ID53197
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pou4f3
Ensembl Gene ENSMUSG00000024497
Gene NamePOU domain, class 4, transcription factor 3
SynonymsBrn3c, Brn-3.1, Brn3.1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.724) question?
Stock #IGL01135
Quality Score
Status
Chromosome18
Chromosomal Location42394539-42397249 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 42395966 bp
ZygosityHeterozygous
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]
Predicted Effect probably null
Transcript: ENSMUST00000025374
AA Change: Q325*
SMART Domains Protein: ENSMUSP00000025374
Gene: ENSMUSG00000024497
AA Change: Q325*

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
5730507C01Rik G A 12: 18,533,374 R145H possibly damaging Het
Acox3 T A 5: 35,588,752 V93E probably benign Het
Ankar T C 1: 72,665,219 N848S probably benign Het
Blzf1 A G 1: 164,303,930 probably benign Het
Cc2d1a G T 8: 84,143,404 H161N probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Ckmt1 A C 2: 121,361,150 D267A probably damaging Het
Dtl G T 1: 191,548,330 T364K probably damaging Het
Fam46a A G 9: 85,326,599 V57A probably damaging Het
Fat1 T A 8: 45,024,840 F2308I probably damaging Het
Fbxo41 A T 6: 85,477,908 S673T probably benign Het
Flnb G A 14: 7,909,736 V1397I probably benign Het
Gdi2 A G 13: 3,548,855 probably benign Het
Gm5155 A T 7: 17,902,471 noncoding transcript Het
Grik3 C T 4: 125,632,415 T147I probably benign Het
Htr1a T C 13: 105,445,284 V344A possibly damaging Het
Isg20l2 A T 3: 87,931,761 D93V probably damaging Het
Kcnt2 T C 1: 140,354,555 probably null Het
Mfsd4b3 A G 10: 39,948,072 M64T probably benign Het
Nox3 T A 17: 3,696,252 probably benign Het
Olfr693 C T 7: 106,678,193 A98T probably benign Het
Pikfyve T A 1: 65,251,635 N1204K probably damaging Het
Rap1a T A 3: 105,732,035 T103S probably benign Het
Rfc4 G A 16: 23,115,776 R165C probably damaging Het
Smtnl1 A G 2: 84,818,887 S8P probably benign Het
Syt17 C T 7: 118,382,047 G351S possibly damaging Het
Tcf20 T A 15: 82,853,900 M1117L probably benign Het
Tgfbr3 A T 5: 107,215,028 H39Q probably damaging Het
Trdmt1 T C 2: 13,521,260 probably null Het
Twf2 A G 9: 106,212,828 I127V probably benign Het
Unc13c A G 9: 73,484,893 V2059A probably damaging Het
Other mutations in Pou4f3
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4472001:Pou4f3 UTSW 18 42394652 missense probably benign 0.30
R2899:Pou4f3 UTSW 18 42395523 missense probably benign 0.00
R4107:Pou4f3 UTSW 18 42395922 missense probably damaging 1.00
R4108:Pou4f3 UTSW 18 42395922 missense probably damaging 1.00
R4799:Pou4f3 UTSW 18 42395987 missense possibly damaging 0.46
R5084:Pou4f3 UTSW 18 42395868 missense probably damaging 0.99
R5366:Pou4f3 UTSW 18 42395754 missense probably damaging 0.99
R5560:Pou4f3 UTSW 18 42395415 missense probably benign 0.00
R6624:Pou4f3 UTSW 18 42395642 missense probably damaging 0.99
R7492:Pou4f3 UTSW 18 42395931 missense probably damaging 1.00
Posted On2013-06-21