Incidental Mutation 'R9070:Pou4f1'
ID 689510
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9070 (G1)
Quality Score 152.008
Status Validated
Chromosome 14
Chromosomal Location 104699112-104705435 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104704067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 122 (S122P)
Ref Sequence ENSEMBL: ENSMUSP00000060798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053016]
AlphaFold P17208
Predicted Effect probably damaging
Transcript: ENSMUST00000053016
AA Change: S122P

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000060798
Gene: ENSMUSG00000048349
AA Change: S122P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (45/45)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 T C 16: 35,100,770 (GRCm39) L774P probably damaging Het
Aldh2 T C 5: 121,707,032 (GRCm39) E495G probably damaging Het
Als2cl T C 9: 110,718,288 (GRCm39) V343A probably benign Het
Antxrl T A 14: 33,793,671 (GRCm39) C466* probably null Het
Aoc1l3 A G 6: 48,965,329 (GRCm39) N446D possibly damaging Het
Arc A G 15: 74,543,833 (GRCm39) L130P probably damaging Het
Barhl1 C A 2: 28,805,423 (GRCm39) R90L probably benign Het
Baz2a A G 10: 127,958,931 (GRCm39) M1149V probably benign Het
Bsn G A 9: 107,987,295 (GRCm39) S106L Het
Calu A G 6: 29,356,567 (GRCm39) E31G probably benign Het
Cdh23 T G 10: 60,173,539 (GRCm39) I1650L probably benign Het
Ceacam9 T C 7: 16,457,787 (GRCm39) V100A possibly damaging Het
Dnaaf9 A T 2: 130,654,793 (GRCm39) S159R possibly damaging Het
Dpyd T G 3: 118,792,892 (GRCm39) I533S probably damaging Het
Fam184a T C 10: 53,514,373 (GRCm39) D1016G possibly damaging Het
Fv1 T A 4: 147,954,414 (GRCm39) W327R probably damaging Het
Gbp7 A G 3: 142,249,762 (GRCm39) D411G probably benign Het
Gldc A T 19: 30,080,404 (GRCm39) D885E probably damaging Het
H4c3 A G 13: 23,882,170 (GRCm39) V88A probably damaging Het
Hdgfl2 T C 17: 56,389,371 (GRCm39) W82R possibly damaging Het
Hif1an A G 19: 44,551,458 (GRCm39) S48G probably benign Het
Itgal C T 7: 126,927,873 (GRCm39) R1023W probably null Het
Kif13a C A 13: 46,905,934 (GRCm39) A1618S probably benign Het
Lrrc57 A G 2: 120,436,565 (GRCm39) L181P probably damaging Het
Mptx2 T A 1: 173,102,119 (GRCm39) D190V probably benign Het
Mroh5 A G 15: 73,656,688 (GRCm39) F590L probably damaging Het
Net1 A G 13: 3,936,103 (GRCm39) I381T probably damaging Het
Nipbl T A 15: 8,368,215 (GRCm39) K1169I possibly damaging Het
Nop9 G A 14: 55,990,757 (GRCm39) R563H probably damaging Het
Obscn A T 11: 59,013,457 (GRCm39) L1130Q probably damaging Het
Or1j13 A T 2: 36,369,268 (GRCm39) S291R probably damaging Het
Or2b2b A T 13: 21,858,985 (GRCm39) M43K probably benign Het
Pcgf1 T A 6: 83,057,076 (GRCm39) H202Q probably damaging Het
Pcnx3 A G 19: 5,715,601 (GRCm39) L1883P probably benign Het
Pde4b T C 4: 102,458,994 (GRCm39) S505P probably damaging Het
Pitpnm2 C A 5: 124,259,375 (GRCm39) R1320L probably damaging Het
Plscr4 C A 9: 92,372,281 (GRCm39) probably benign Het
Pot1a C T 6: 25,744,629 (GRCm39) R625Q Het
Ppl A G 16: 4,907,208 (GRCm39) V1029A probably benign Het
Prex1 A G 2: 166,427,707 (GRCm39) F982L probably damaging Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Rbks A G 5: 31,854,890 (GRCm39) V19A probably benign Het
Rps18-ps5 A G 13: 28,441,902 (GRCm39) Y95C probably benign Het
Rps20 A T 4: 3,835,280 (GRCm39) D5E probably benign Het
Sacs C A 14: 61,447,751 (GRCm39) P3266T probably benign Het
Septin7 A G 9: 25,175,507 (GRCm39) probably benign Het
Slc28a2b A G 2: 122,352,154 (GRCm39) T331A probably damaging Het
Tasor T C 14: 27,194,484 (GRCm39) V1228A probably benign Het
Trdv5 T C 14: 54,386,258 (GRCm39) D69G probably damaging Het
Treml4 G T 17: 48,576,781 (GRCm39) G180C probably damaging Het
Other mutations in Pou4f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1549:Pou4f1 UTSW 14 104,705,076 (GRCm39) missense probably benign 0.30
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
Predicted Primers PCR Primer
(F):5'- ATCTTGAGGTTGGCCAGCG -3'
(R):5'- AGAGCAACCTCTTCGCCAG -3'

Sequencing Primer
(F):5'- ACGGCATGTTCATGGCC -3'
(R):5'- AACCTCTTCGCCAGCCTGG -3'
Posted On 2021-11-19