Incidental Mutation 'R1549:Pou4f1'
ID 254694
Institutional Source Beutler Lab
Gene Symbol Pou4f1
Ensembl Gene ENSMUSG00000048349
Gene Name POU domain, class 4, transcription factor 1
Synonyms Brn-3, E130119J07Rik, Brn3, Brn3a, Brn-3.0
MMRRC Submission 039588-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1549 (G1)
Quality Score 70
Status Validated
Chromosome 14
Chromosomal Location 104699112-104705435 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104705076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 32 (I32V)
Ref Sequence ENSEMBL: ENSMUSP00000060798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053016]
AlphaFold P17208
Predicted Effect probably benign
Transcript: ENSMUST00000053016
AA Change: I32V

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000060798
Gene: ENSMUSG00000048349
AA Change: I32V

DomainStartEndE-ValueType
low complexity region 50 68 N/A INTRINSIC
Blast:POU 77 98 2e-6 BLAST
low complexity region 129 187 N/A INTRINSIC
low complexity region 190 204 N/A INTRINSIC
low complexity region 220 259 N/A INTRINSIC
POU 262 339 3.7e-55 SMART
HOX 357 419 5.1e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139505
Meta Mutation Damage Score 0.0726 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 90.8%
Validation Efficiency 97% (58/60)
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-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
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,210,441 (GRCm39) I157K probably benign Het
Ank3 A T 10: 69,837,812 (GRCm39) N727Y probably benign Het
Atg16l1 A G 1: 87,701,910 (GRCm39) T251A probably benign Het
Bcl11b T A 12: 107,883,422 (GRCm39) I226F probably damaging Het
Birc6 A G 17: 74,969,737 (GRCm39) H4260R probably damaging Het
Camta1 A G 4: 151,670,920 (GRCm39) I85T probably damaging Het
Cblb A G 16: 51,853,373 (GRCm39) probably benign Het
Ccnd1 T G 7: 144,491,073 (GRCm39) I178L probably benign Het
Clcn4 A G 7: 7,294,681 (GRCm39) V329A probably damaging Het
Col17a1 C T 19: 47,637,349 (GRCm39) probably benign Het
Col7a1 A G 9: 108,785,034 (GRCm39) T254A unknown Het
Ctif C A 18: 75,698,096 (GRCm39) R188L probably damaging Het
Cyp2c69 A T 19: 39,831,430 (GRCm39) L461Q probably benign Het
Ddc A G 11: 11,796,656 (GRCm39) probably null Het
Dpp10 T A 1: 123,269,109 (GRCm39) probably null Het
Eef2 CCC CCCC 10: 81,014,602 (GRCm39) probably null Het
Eif2b4 T C 5: 31,350,265 (GRCm39) E19G possibly damaging Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Galnt14 A G 17: 73,832,308 (GRCm39) L269P possibly damaging Het
Gm2381 T A 7: 42,471,825 (GRCm39) H18L probably benign Het
Gpbp1 G T 13: 111,573,113 (GRCm39) D326E probably benign Het
Gpr162 C T 6: 124,837,051 (GRCm39) R331H probably damaging Het
Iigp1 G A 18: 60,522,948 (GRCm39) G22D probably benign Het
Kcns3 T C 12: 11,142,084 (GRCm39) H205R probably damaging Het
Klk1b26 C T 7: 43,665,826 (GRCm39) probably benign Het
Lime1 A G 2: 181,025,169 (GRCm39) Y242C probably benign Het
Manba A G 3: 135,250,567 (GRCm39) D398G probably damaging Het
Mapk3 A T 7: 126,362,684 (GRCm39) K219* probably null Het
Mdfic G T 6: 15,799,844 (GRCm39) G324C probably damaging Het
Mdga1 G A 17: 30,056,972 (GRCm39) H837Y probably damaging Het
Nck1 T A 9: 100,379,925 (GRCm39) M109L probably benign Het
Or1d2 A G 11: 74,256,076 (GRCm39) I194V probably benign Het
Or2w1b T C 13: 21,300,288 (GRCm39) V142A probably benign Het
Pabpc1l G T 2: 163,879,091 (GRCm39) V313F possibly damaging Het
Phf3 C T 1: 30,843,923 (GRCm39) V1679I probably benign Het
Pspc1 T G 14: 56,986,398 (GRCm39) H351P probably damaging Het
Ptk7 T C 17: 46,883,578 (GRCm39) E829G probably damaging Het
Rab23 A G 1: 33,777,378 (GRCm39) Y164C possibly damaging Het
Slc36a3 A G 11: 55,033,596 (GRCm39) W141R probably damaging Het
Slc7a14 T C 3: 31,278,267 (GRCm39) E446G possibly damaging Het
Stim2 G A 5: 54,262,667 (GRCm39) R303Q probably damaging Het
Tbcd A G 11: 121,451,579 (GRCm39) I550V probably benign Het
Tmed3 A C 9: 89,581,998 (GRCm39) L155R probably damaging Het
Trav16d-dv11 A G 14: 53,284,799 (GRCm39) probably benign Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Usp16 G T 16: 87,261,722 (GRCm39) V113F probably damaging Het
Vmn2r12 T G 5: 109,240,696 (GRCm39) Y139S probably benign Het
Vmn2r5 G T 3: 64,411,421 (GRCm39) D382E probably damaging Het
Zfp1010 T C 2: 176,957,378 (GRCm39) E40G probably damaging Het
Zfp217 A C 2: 169,956,390 (GRCm39) N869K probably benign Het
Zswim2 G T 2: 83,754,092 (GRCm39) D189E probably benign Het
Other mutations in Pou4f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3898:Pou4f1 UTSW 14 104,703,165 (GRCm39) makesense probably null
R3911:Pou4f1 UTSW 14 104,703,611 (GRCm39) missense unknown
R4155:Pou4f1 UTSW 14 104,705,153 (GRCm39) missense possibly damaging 0.93
R4984:Pou4f1 UTSW 14 104,703,619 (GRCm39) missense unknown
R5731:Pou4f1 UTSW 14 104,703,347 (GRCm39) missense unknown
R7787:Pou4f1 UTSW 14 104,703,460 (GRCm39) missense unknown
R7886:Pou4f1 UTSW 14 104,704,228 (GRCm39) missense probably damaging 0.99
R8986:Pou4f1 UTSW 14 104,704,087 (GRCm39) missense probably damaging 1.00
R9070:Pou4f1 UTSW 14 104,704,067 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TCCCTCTAAGAGCAGTCCCGCC -3'
(R):5'- TGTAAGAGGAGCGCAGCCCGTC -3'

Sequencing Primer
(F):5'- agctgccgccaggcagcg -3'
(R):5'- AGCTCTCGGAGAAGCGG -3'
Posted On 2014-12-10