Incidental Mutation 'IGL02744:Pou5f1'
ID306013
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers

VEGA: OTTMUST00000096009; MGI: 101893

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02744
Quality Score
Status
Chromosome17
Chromosomal Location35506018-35510772 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 35509414 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 40 (V40A)
Ref Sequence ENSEMBL: ENSMUSP00000134729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025271] [ENSMUST00000160885] [ENSMUST00000161012] [ENSMUST00000172651] [ENSMUST00000173256] [ENSMUST00000173805] [ENSMUST00000173934] [ENSMUST00000174782]
Predicted Effect probably damaging
Transcript: ENSMUST00000025271
AA Change: V171A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025271
Gene: ENSMUSG00000024406
AA Change: V171A

DomainStartEndE-ValueType
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: ENSMUST00000160885
SMART Domains Protein: ENSMUSP00000125167
Gene: ENSMUSG00000050410

DomainStartEndE-ValueType
low complexity region 11 16 N/A INTRINSIC
FHA 30 88 8.28e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161012
SMART Domains Protein: ENSMUSP00000125310
Gene: ENSMUSG00000050410

DomainStartEndE-ValueType
low complexity region 11 16 N/A INTRINSIC
FHA 30 88 8.28e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172651
AA Change: V40A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134654
Gene: ENSMUSG00000024406
AA Change: V40A

DomainStartEndE-ValueType
POU 1 74 1.3e-45 SMART
Pfam:Homeobox 93 132 1.2e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173256
AA Change: V40A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134060
Gene: ENSMUSG00000024406
AA Change: V40A

DomainStartEndE-ValueType
POU 1 74 1.3e-45 SMART
Pfam:Homeobox 93 132 1.2e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173805
AA Change: V40A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133633
Gene: ENSMUSG00000024406
AA Change: V40A

DomainStartEndE-ValueType
POU 1 74 1.3e-45 SMART
Pfam:Homeobox 93 132 1.2e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173934
AA Change: V40A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134729
Gene: ENSMUSG00000024406
AA Change: V40A

DomainStartEndE-ValueType
POU 1 74 1.3e-45 SMART
Pfam:Homeobox 93 132 1.2e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174782
AA Change: V65A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134493
Gene: ENSMUSG00000024406
AA Change: V65A

DomainStartEndE-ValueType
POU 25 99 2.88e-47 SMART
Pfam:Homeobox 118 157 1.1e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175723
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930564D02Rik A G 3: 105,078,536 M89V unknown Het
Actl11 C A 9: 107,929,862 H461Q probably benign Het
Aox4 A T 1: 58,255,552 R973S possibly damaging Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
Cep350 A T 1: 155,931,533 S713T probably damaging Het
Doxl2 A G 6: 48,975,315 E58G probably benign Het
Epha5 T C 5: 84,107,989 I458V probably benign Het
Galnt17 A G 5: 131,111,775 I168T probably damaging Het
Gli3 T C 13: 15,613,886 probably null Het
Gm11110 T A 17: 57,092,693 probably benign Het
Gm8206 T C 14: 6,022,488 I4V possibly damaging Het
Gm8906 C T 5: 11,505,373 T103I possibly damaging Het
Golga1 A G 2: 39,018,474 S713P probably damaging Het
Ing5 T C 1: 93,816,488 M172T probably damaging Het
Lyn A G 4: 3,738,808 T27A probably benign Het
Olfr1367 A G 13: 21,346,994 Y22C probably damaging Het
Pramef12 A T 4: 144,392,923 L358Q probably damaging Het
Prdm16 A G 4: 154,345,453 L353P probably damaging Het
Psg18 T A 7: 18,349,402 Q276L probably benign Het
Ralgapb A C 2: 158,446,151 Q369H probably damaging Het
Slc44a4 A G 17: 34,927,800 N300D probably damaging Het
Slc6a15 A T 10: 103,418,033 E610V probably benign Het
Slc8a2 T C 7: 16,145,029 V480A possibly damaging Het
Spg7 T C 8: 123,093,661 F617S probably damaging Het
Srcap A G 7: 127,534,666 D863G probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Suox T C 10: 128,671,217 E314G probably benign Het
Tln2 T A 9: 67,229,376 K1276* probably null Het
Tmem72 A G 6: 116,695,490 L130P probably damaging Het
Ttll1 T C 15: 83,489,577 Y345C probably benign Het
Ush2a A T 1: 188,358,717 probably null Het
Xpo6 G A 7: 126,108,448 probably benign Het
Zc3h14 A T 12: 98,784,975 Y512F possibly damaging Het
Zfp438 A T 18: 5,214,760 M66K probably benign Het
Other mutations in Pou5f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4691:Pou5f1 UTSW 17 35506131 missense probably damaging 0.98
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
Posted On2015-04-16