Incidental Mutation 'R4155:Pou4f1'
ID 315111
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 040999-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4155 (G1)
Quality Score 208
Status Not validated
Chromosome 14
Chromosomal Location 104699112-104705435 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 104705153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 6 (S6N)
Ref Sequence ENSEMBL: ENSMUSP00000060798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053016]
AlphaFold P17208
Predicted Effect possibly damaging
Transcript: ENSMUST00000053016
AA Change: S6N

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000060798
Gene: ENSMUSG00000048349
AA Change: S6N

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: 97.5%
  • 20x: 95.8%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik T A 3: 145,644,018 (GRCm39) F69I possibly damaging Het
Akt3 A G 1: 176,924,543 (GRCm39) I184T possibly damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Armc2 A G 10: 41,887,863 (GRCm39) V40A probably damaging Het
Ash2l A G 8: 26,307,482 (GRCm39) Y485H probably damaging Het
Atr T A 9: 95,770,177 (GRCm39) C1202* probably null Het
Bcl11b A T 12: 107,883,684 (GRCm39) probably null Het
Birc6 C A 17: 74,903,934 (GRCm39) S1242R probably benign Het
Blm GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCCTCCTCC 7: 80,162,652 (GRCm39) probably benign Het
Bsx A G 9: 40,787,632 (GRCm39) E102G probably benign Het
Casq2 A T 3: 102,040,418 (GRCm39) probably null Het
Ccpg1 C A 9: 72,919,449 (GRCm39) Q355K probably benign Het
Copa T G 1: 171,928,992 (GRCm39) N251K probably damaging Het
Cst8 C A 2: 148,641,996 (GRCm39) A31E possibly damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Ecd A G 14: 20,374,632 (GRCm39) S503P probably damaging Het
Fbn2 C A 18: 58,156,359 (GRCm39) E2487* probably null Het
Hoxd9 A G 2: 74,529,667 (GRCm39) I308V probably benign Het
Ica1l G A 1: 60,053,052 (GRCm39) A162V possibly damaging Het
Kcnj15 A T 16: 95,097,166 (GRCm39) K263* probably null Het
Mettl4 T C 17: 95,048,003 (GRCm39) M213V probably benign Het
Nalf1 T A 8: 9,283,023 (GRCm39) Y342F possibly damaging Het
Ncan C A 8: 70,562,727 (GRCm39) E510D possibly damaging Het
Ndufs4 A T 13: 114,444,390 (GRCm39) S129R probably benign Het
Or14a259 T A 7: 86,013,270 (GRCm39) I92L probably benign Het
Or4c127 A G 2: 89,833,004 (GRCm39) S85G probably benign Het
Or52s19 T C 7: 103,008,363 (GRCm39) T13A probably benign Het
Or8d1b A T 9: 38,887,451 (GRCm39) T160S probably damaging Het
P2rx5 A G 11: 73,062,655 (GRCm39) T455A probably damaging Het
Pcdh1 T A 18: 38,336,159 (GRCm39) T159S probably damaging Het
Poln A G 5: 34,166,993 (GRCm39) V755A possibly damaging Het
Rpap1 C T 2: 119,604,660 (GRCm39) R416H probably damaging Het
Samd4 T A 14: 47,290,403 (GRCm39) M170K possibly damaging Het
Srgn A G 10: 62,333,613 (GRCm39) F55L possibly damaging Het
Tmcc1 C T 6: 116,110,765 (GRCm39) G176D probably benign Het
Tmem232 A T 17: 65,743,328 (GRCm39) M321K probably damaging Het
Tnfsf11 A G 14: 78,537,309 (GRCm39) M118T probably benign Het
Tns1 T A 1: 73,953,790 (GRCm39) N1848Y probably damaging Het
Ttc27 T G 17: 75,147,455 (GRCm39) I669S probably benign Het
Uaca A G 9: 60,779,035 (GRCm39) S1141G probably benign Het
Usp34 T A 11: 23,367,676 (GRCm39) V1671E probably damaging Het
Wdr64 T A 1: 175,597,172 (GRCm39) L73H probably benign Het
Zfp410 G A 12: 84,374,206 (GRCm39) R181H 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
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'- ATCCCTCTAAGAGCAGTCCC -3'
(R):5'- TCACTATAAGAGCGGCTCCC -3'

Sequencing Primer
(F):5'- TAAGAGCAGTCCCGCCCG -3'
(R):5'- GCTAGAGCTCTCGGAGAAGC -3'
Posted On 2015-05-14