Incidental Mutation 'IGL01135:Pou4f3'
ID 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
Chromosome 18
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*

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: 76,834,475 (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
AlleleSourceChrCoordTypePredicted EffectPPH 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