Incidental Mutation 'R3898:Pou4f1'
ID 309071
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 040906-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3898 (G1)
Quality Score 174
Status Not validated
Chromosome 14
Chromosomal Location 104699112-104705435 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 104703165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 422 (*422W)
Ref Sequence ENSEMBL: ENSMUSP00000060798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053016]
AlphaFold P17208
Predicted Effect probably null
Transcript: ENSMUST00000053016
AA Change: *422W
SMART Domains Protein: ENSMUSP00000060798
Gene: ENSMUSG00000048349
AA Change: *422W

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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-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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg1 A C 16: 5,054,253 (GRCm39) I154L possibly damaging Het
Ankra2 C T 13: 98,410,317 (GRCm39) L136F probably benign Het
Anpep A G 7: 79,488,973 (GRCm39) S372P probably benign Het
Cabyr T C 18: 12,884,580 (GRCm39) S356P probably benign Het
Cad G T 5: 31,231,366 (GRCm39) C1633F probably benign Het
Cadps2 G A 6: 23,528,125 (GRCm39) R425W probably damaging Het
Ccdc180 A G 4: 45,912,799 (GRCm39) K593E possibly damaging Het
Cdh8 T A 8: 99,898,005 (GRCm39) E436V probably damaging Het
Cfap95 A G 19: 23,570,466 (GRCm39) V101A probably benign Het
Cln6 T G 9: 62,757,934 (GRCm39) F231C probably damaging Het
Cul2 A G 18: 3,434,033 (GRCm39) K677E probably benign Het
Cyp2c69 T C 19: 39,864,834 (GRCm39) I215V probably benign Het
Dhx36 T C 3: 62,399,790 (GRCm39) D393G probably damaging Het
Dnah7b T C 1: 46,282,417 (GRCm39) V2850A probably damaging Het
Dnah8 G A 17: 31,073,872 (GRCm39) R4514H probably damaging Het
Drg2 T A 11: 60,347,460 (GRCm39) S50T probably benign Het
Ecscr A G 18: 35,846,705 (GRCm39) S230P possibly damaging Het
Eif2ak4 T C 2: 118,261,404 (GRCm39) V527A probably damaging Het
Elfn1 G A 5: 139,957,719 (GRCm39) R241H probably damaging Het
Fchsd2 A G 7: 100,841,006 (GRCm39) K172E possibly damaging Het
Fli1 C T 9: 32,388,018 (GRCm39) G24R possibly damaging Het
Frmd3 A G 4: 73,992,346 (GRCm39) D71G probably damaging Het
Ggnbp1 A G 17: 27,244,312 (GRCm39) probably benign Het
Gpat2 T C 2: 127,277,018 (GRCm39) F713S probably damaging Het
H2-Q2 C T 17: 35,561,743 (GRCm39) P78S probably damaging Het
Kcnq2 C T 2: 180,751,479 (GRCm39) A306T probably damaging Het
Lmntd1 G A 6: 145,359,152 (GRCm39) P333S probably benign Het
Lrp1 G A 10: 127,427,969 (GRCm39) R535* probably null Het
Mmrn2 G T 14: 34,121,517 (GRCm39) probably null Het
Nlrp1a G A 11: 71,013,700 (GRCm39) P517S probably benign Het
Or2y13 A T 11: 49,415,386 (GRCm39) I279F probably damaging Het
Ptpn14 C T 1: 189,582,728 (GRCm39) P525L probably benign Het
Pyroxd2 C A 19: 42,728,831 (GRCm39) G190C probably damaging Het
Rd3 T C 1: 191,717,217 (GRCm39) V114A probably damaging Het
Sptbn5 T C 2: 119,887,691 (GRCm39) noncoding transcript Het
Tbc1d5 A T 17: 51,270,772 (GRCm39) F153Y probably damaging Het
Thop1 G A 10: 80,916,278 (GRCm39) G429S probably damaging Het
Trim30d T A 7: 104,132,736 (GRCm39) I184L probably benign Het
Ubr5 T C 15: 37,997,983 (GRCm39) S1727G probably benign Het
Vezf1 T C 11: 87,966,999 (GRCm39) F77L probably benign Het
Vmn2r12 C T 5: 109,238,370 (GRCm39) A457T probably benign Het
Xirp1 A T 9: 119,848,406 (GRCm39) M159K probably benign Het
Zkscan17 C T 11: 59,394,263 (GRCm39) A113T probably damaging Het
Zyg11a T A 4: 108,067,391 (GRCm39) N40Y probably damaging Het
Other mutations in Pou4f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1549:Pou4f1 UTSW 14 104,705,076 (GRCm39) missense probably benign 0.30
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'- ACCCCTGTTCTCTAGGCTGG -3'
(R):5'- AACATGATCGCGCTCAAGCC -3'

Sequencing Primer
(F):5'- CTGTTCTCTAGGCTGGGGGAC -3'
(R):5'- AAGCGGACTTCCATCGC -3'
Posted On 2015-04-17