Incidental Mutation 'R4529:Pou3f3'
ID 333017
Institutional Source Beutler Lab
Gene Symbol Pou3f3
Ensembl Gene ENSMUSG00000045515
Gene Name POU domain, class 3, transcription factor 3
Synonyms HST011, Brn-1, Brn1, urehr2, Otf8
MMRRC Submission 041592-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4529 (G1)
Quality Score 221
Status Not validated
Chromosome 1
Chromosomal Location 42734928-42739370 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 42737714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 470 (T470K)
Ref Sequence ENSEMBL: ENSMUSP00000052088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054883]
AlphaFold P31361
Predicted Effect probably benign
Transcript: ENSMUST00000054883
AA Change: T470K

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000052088
Gene: ENSMUSG00000045515
AA Change: T470K

DomainStartEndE-ValueType
low complexity region 26 49 N/A INTRINSIC
low complexity region 103 114 N/A INTRINSIC
low complexity region 132 146 N/A INTRINSIC
low complexity region 162 206 N/A INTRINSIC
low complexity region 212 224 N/A INTRINSIC
low complexity region 235 250 N/A INTRINSIC
low complexity region 269 301 N/A INTRINSIC
POU 311 385 9.06e-54 SMART
HOX 403 465 3.91e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176807
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177136
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185599
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188153
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199521
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a POU-domain containing protein that functions as a transcription factor. The encoded protein recognizes an octamer sequence in the DNA of target genes. This protein may play a role in development of the nervous system. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous mutation of this gene results in death within 36 hours after birth. Mutant brains exhibit disorganized cells in the hippocampus and adjacent transitional cortex. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 A G 17: 57,727,519 (GRCm39) Y483C possibly damaging Het
Akap9 T A 5: 4,093,948 (GRCm39) F2157I probably damaging Het
Aldh1a3 T C 7: 66,051,742 (GRCm39) N404D probably benign Het
Ankrd2 A T 19: 42,032,240 (GRCm39) I231F probably benign Het
Apba1 A G 19: 23,913,899 (GRCm39) N641D probably damaging Het
C1qbp T C 11: 70,869,550 (GRCm39) T178A probably benign Het
Chtf18 T C 17: 25,939,592 (GRCm39) Y64C probably damaging Het
Cyp1a1 A G 9: 57,608,962 (GRCm39) H281R probably benign Het
Ehmt2 A G 17: 35,132,707 (GRCm39) I1235V probably damaging Het
Fcamr A G 1: 130,732,313 (GRCm39) H44R probably damaging Het
Gm12185 T C 11: 48,798,747 (GRCm39) Y582C probably damaging Het
Gm12185 T C 11: 48,798,921 (GRCm39) N524S possibly damaging Het
Gm5460 A C 14: 33,767,769 (GRCm39) D459A probably damaging Het
H2-Q6 C T 17: 35,644,820 (GRCm39) T203I probably null Het
Inmt T C 6: 55,148,012 (GRCm39) M206V probably benign Het
Khdc3 T C 9: 73,011,301 (GRCm39) S360P possibly damaging Het
Lin54 G A 5: 100,594,419 (GRCm39) T582I possibly damaging Het
Ltbp1 T G 17: 75,458,355 (GRCm39) V312G probably benign Het
Nlrp9a T C 7: 26,270,832 (GRCm39) L899P probably damaging Het
Or6c1b T C 10: 129,273,287 (GRCm39) V202A probably benign Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pappa A G 4: 65,149,419 (GRCm39) I920V probably benign Het
Parp1 T A 1: 180,418,877 (GRCm39) V679E probably damaging Het
Pla2g4f C T 2: 120,131,100 (GRCm39) R785Q probably damaging Het
Plbd1 T A 6: 136,628,823 (GRCm39) I82F probably benign Het
Plekhm3 A G 1: 64,976,984 (GRCm39) V162A probably benign Het
Plin4 A G 17: 56,411,274 (GRCm39) L919P probably damaging Het
Plxna4 C T 6: 32,473,831 (GRCm39) probably null Het
Prss38 T C 11: 59,264,325 (GRCm39) Y214C probably damaging Het
Retreg1 T A 15: 25,968,600 (GRCm39) Y109N probably damaging Het
Slco1c1 A G 6: 141,500,907 (GRCm39) Y413C probably damaging Het
Stk32a T C 18: 43,376,044 (GRCm39) C38R possibly damaging Het
Themis T C 10: 28,658,331 (GRCm39) F453L possibly damaging Het
Tmem38a C T 8: 73,326,005 (GRCm39) P20S possibly damaging Het
Tubgcp3 G T 8: 12,713,932 (GRCm39) L62I probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Xpo7 G A 14: 70,906,188 (GRCm39) T986M probably damaging Het
Zfp51 C T 17: 21,684,998 (GRCm39) L538F probably damaging Het
Zfy1 A G Y: 726,511 (GRCm39) L418S possibly damaging Het
Other mutations in Pou3f3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02143:Pou3f3 APN 1 42,737,686 (GRCm39) missense probably benign 0.05
R0800:Pou3f3 UTSW 1 42,737,527 (GRCm39) missense probably damaging 1.00
R2314:Pou3f3 UTSW 1 42,737,651 (GRCm39) missense probably damaging 1.00
R4391:Pou3f3 UTSW 1 42,736,618 (GRCm39) missense unknown
R5233:Pou3f3 UTSW 1 42,737,438 (GRCm39) missense probably benign 0.17
R6536:Pou3f3 UTSW 1 42,737,374 (GRCm39) missense probably damaging 1.00
R7750:Pou3f3 UTSW 1 42,737,308 (GRCm39) missense probably damaging 1.00
R7936:Pou3f3 UTSW 1 42,736,560 (GRCm39) missense unknown
R9293:Pou3f3 UTSW 1 42,736,682 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCGAGGTTAGCGTCAAAGG -3'
(R):5'- AAAGAGTCTCATCGGTCTCCAG -3'

Sequencing Primer
(F):5'- TTAGCGTCAAAGGCGCGC -3'
(R):5'- CGTGGCACGCCTGTCTTTG -3'
Posted On 2015-08-18