Incidental Mutation 'R4691:Pou5f1'
Institutional Source Beutler Lab
Gene Symbol Pou5f1
Ensembl Gene ENSMUSG00000024406
Gene NamePOU domain, class 5, transcription factor 1
SynonymsOtf-3, Oct-4, Oct3/4, Otf3, Otf4, Oct4, Oct-3/4, Otf3g, Oct-3, Otf3-rs7, Otf-4
MMRRC Submission 041942-MU
Accession Numbers

VEGA: OTTMUST00000096009; MGI: 101893

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4691 (G1)
Quality Score225
Status Validated
Chromosomal Location35506018-35510772 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 35506131 bp
Amino Acid Change Phenylalanine to Tyrosine at position 11 (F11Y)
Ref Sequence ENSEMBL: ENSMUSP00000025271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025271] [ENSMUST00000172651] [ENSMUST00000173256] [ENSMUST00000173805] [ENSMUST00000173934] [ENSMUST00000174782]
PDB Structure
POU protein:DNA complex [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000025271
AA Change: F11Y

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025271
Gene: ENSMUSG00000024406
AA Change: F11Y

low complexity region 7 23 N/A INTRINSIC
low complexity region 39 49 N/A INTRINSIC
low complexity region 72 85 N/A INTRINSIC
POU 131 205 2.88e-47 SMART
HOX 223 285 4.75e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172651
SMART Domains Protein: ENSMUSP00000134654
Gene: ENSMUSG00000024406

POU 1 74 1.3e-45 SMART
Pfam:Homeobox 93 132 1.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173256
SMART Domains Protein: ENSMUSP00000134060
Gene: ENSMUSG00000024406

POU 1 74 1.3e-45 SMART
Pfam:Homeobox 93 132 1.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173805
SMART Domains Protein: ENSMUSP00000133633
Gene: ENSMUSG00000024406

POU 1 74 1.3e-45 SMART
Pfam:Homeobox 93 132 1.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173934
SMART Domains Protein: ENSMUSP00000134729
Gene: ENSMUSG00000024406

POU 1 74 1.3e-45 SMART
Pfam:Homeobox 93 132 1.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174782
SMART Domains Protein: ENSMUSP00000134493
Gene: ENSMUSG00000024406

POU 25 99 2.88e-47 SMART
Pfam:Homeobox 118 157 1.1e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175723
Meta Mutation Damage Score 0.114 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 97% (70/72)
MGI Phenotype FUNCTION: The protein encoded by this gene belongs to the POU domain family of transcription factors. POU domain transcription factors bind to a specific octamer DNA motif and regulate cell type-specific differentiation pathways. The encoded protein plays a key role in embryonic development and stem cell pluripotency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygosity for a targeted null mutation results in peri-implantation lethality prior to the egg cylinder stage, associated with failure to develop a pluripotent inner cell mass. Conditional mutations show defects in reproduction. [provided by MGI curators]
Allele List at MGI

All alleles(86) : Targeted(7) Gene trapped(79)

Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530032D15Rik C T 1: 85,088,800 probably benign Het
Abca13 A T 11: 9,434,195 R3882S probably damaging Het
Adamts2 G T 11: 50,756,696 V299F probably damaging Het
Ankrd50 A G 3: 38,483,010 S65P probably benign Het
Ap4e1 T C 2: 127,061,871 C898R probably benign Het
Arel1 A T 12: 84,930,249 probably null Het
Bag6 T A 17: 35,139,248 V164D probably damaging Het
C2cd5 A G 6: 143,030,148 S769P possibly damaging Het
Cables1 C T 18: 11,840,523 Q240* probably null Het
Ccnb1-ps T A 7: 42,106,092 noncoding transcript Het
Ccz1 A T 5: 143,991,562 I390N possibly damaging Het
Ces1a T C 8: 93,032,659 H283R probably benign Het
Clca3b G A 3: 144,839,092 T378I probably benign Het
Cpne2 A T 8: 94,558,221 I342F probably damaging Het
Cyp2d9 A G 15: 82,455,832 D141G probably damaging Het
Ddias T A 7: 92,858,816 K630N probably damaging Het
Dennd4b A G 3: 90,272,312 T626A probably damaging Het
Disc1 T C 8: 125,148,447 V554A possibly damaging Het
Dnah10 A G 5: 124,775,517 T1880A probably damaging Het
Dnase1l1 C T X: 74,277,038 probably null Het
Epop C T 11: 97,628,893 G130D possibly damaging Het
Erap1 T C 13: 74,673,692 L722P probably damaging Het
Eya4 T A 10: 23,140,068 T334S probably benign Het
Ezr T C 17: 6,759,562 I5V probably benign Het
Fam53c A C 18: 34,768,690 E220A probably damaging Het
Galnt12 T C 4: 47,104,143 S134P probably damaging Het
Gcfc2 T A 6: 81,941,427 L366* probably null Het
Gins4 T A 8: 23,237,059 D6V probably benign Het
Gm1113 T C 9: 35,516,862 S106G possibly damaging Het
Gm5155 T A 7: 17,908,966 S434T possibly damaging Het
Grid1 A G 14: 35,569,557 H807R probably benign Het
H2-T22 GTTTT GTTT 17: 36,041,570 probably null Het
Ighv1-66 T C 12: 115,593,309 Y51C probably benign Het
Inpp4b A T 8: 82,122,653 Y901F probably damaging Het
Irf2 T A 8: 46,846,187 S339T probably damaging Het
Itgae G T 11: 73,119,519 G612* probably null Het
Kdr T C 5: 75,944,599 K1037R possibly damaging Het
Mro A T 18: 73,873,326 M115L probably benign Het
Myo5a A G 9: 75,180,156 E1098G probably damaging Het
Nkx2-1 T A 12: 56,533,565 M197L probably benign Het
Olfr58 T C 9: 19,783,382 I83T probably benign Het
Pank2 T A 2: 131,296,281 F430L possibly damaging Het
Pcx T A 19: 4,619,477 V794E probably damaging Het
Pdgfd C T 9: 6,288,556 P70L probably damaging Het
Pla2g4e T C 2: 120,174,300 Y521C probably damaging Het
Prdm9 A G 17: 15,553,378 M252T probably benign Het
Ptk2b C T 14: 66,157,069 G859S probably benign Het
Rad51ap1 A G 6: 126,927,553 S123P probably benign Het
Robo3 T C 9: 37,425,218 E418G probably damaging Het
Sos2 C T 12: 69,616,328 R631H probably damaging Het
St3gal2 C T 8: 110,957,785 T25I probably benign Het
Stra6l G A 4: 45,882,851 A521T probably benign Het
Syt7 T A 19: 10,426,481 L177Q probably damaging Het
Tet2 T A 3: 133,486,083 Q863H possibly damaging Het
Tmem232 T C 17: 65,265,242 K585E possibly damaging Het
Trpc6 A C 9: 8,652,978 E595A probably damaging Het
Txnl1 A G 18: 63,671,679 V248A possibly damaging Het
Vmn2r72 A T 7: 85,737,911 L815* probably null Het
Vmn2r81 C T 10: 79,293,377 Q701* probably null Het
Vps13c T C 9: 67,952,935 V2811A possibly damaging Het
Zfp354a A G 11: 51,070,237 E425G probably damaging Het
Zfp617 A T 8: 71,932,815 T330S probably benign Het
Zfp663 G T 2: 165,359,130 probably benign Het
Zfp84 T C 7: 29,777,080 L399P probably damaging Het
Zfp869 A T 8: 69,706,863 C353* probably null Het
Zscan22 C T 7: 12,906,561 A85V probably benign Het
Other mutations in Pou5f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02744:Pou5f1 APN 17 35509414 missense probably damaging 1.00
IGL03062:Pou5f1 APN 17 35510039 missense possibly damaging 0.86
IGL03091:Pou5f1 APN 17 35510042 missense probably benign 0.32
R0553:Pou5f1 UTSW 17 35509477 missense possibly damaging 0.76
R2105:Pou5f1 UTSW 17 35510002 missense probably benign 0.01
R2231:Pou5f1 UTSW 17 35510062 missense probably benign
R4953:Pou5f1 UTSW 17 35510541 missense possibly damaging 0.54
R6208:Pou5f1 UTSW 17 35510460 missense possibly damaging 0.50
X0027:Pou5f1 UTSW 17 35506446 missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-10-21