Incidental Mutation 'R2105:Pou5f1'
ID 230918
Institutional Source Beutler Lab
Gene Symbol Pou5f1
Ensembl Gene ENSMUSG00000024406
Gene Name POU domain, class 5, transcription factor 1
Synonyms Otf-3, Oct-4, Oct3/4, Otf3, Otf4, Oct4, Oct-3/4, Otf3g, Oct-3, Otf3-rs7, Otf-4
MMRRC Submission 040109-MU
Accession Numbers

VEGA: OTTMUST00000096009; MGI: 101893
Essential gene? Essential (E-score: 1.000) question?
Stock # R2105 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 35506018-35510772 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 35510002 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 114 (V114M)
Ref Sequence ENSEMBL: ENSMUSP00000134493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025271] [ENSMUST00000159009] [ENSMUST00000160885] [ENSMUST00000161012] [ENSMUST00000162683] [ENSMUST00000172651] [ENSMUST00000173256] [ENSMUST00000173805] [ENSMUST00000173934] [ENSMUST00000174782]
AlphaFold P20263
Predicted Effect probably benign
Transcript: ENSMUST00000025271
AA Change: V220M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025271
Gene: ENSMUSG00000024406
AA Change: V220M

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: ENSMUST00000159009
SMART Domains Protein: ENSMUSP00000124449
Gene: ENSMUSG00000050410

DomainStartEndE-ValueType
low complexity region 11 16 N/A INTRINSIC
FHA 30 88 8.28e-7 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 benign
Transcript: ENSMUST00000162683
SMART Domains Protein: ENSMUSP00000125659
Gene: ENSMUSG00000050410

DomainStartEndE-ValueType
low complexity region 11 16 N/A INTRINSIC
FHA 30 88 8.28e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172651
AA Change: V89M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134654
Gene: ENSMUSG00000024406
AA Change: V89M

DomainStartEndE-ValueType
POU 1 74 1.3e-45 SMART
Pfam:Homeobox 93 132 1.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173256
AA Change: V89M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134060
Gene: ENSMUSG00000024406
AA Change: V89M

DomainStartEndE-ValueType
POU 1 74 1.3e-45 SMART
Pfam:Homeobox 93 132 1.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173805
AA Change: V89M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000133633
Gene: ENSMUSG00000024406
AA Change: V89M

DomainStartEndE-ValueType
POU 1 74 1.3e-45 SMART
Pfam:Homeobox 93 132 1.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173934
AA Change: V89M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134729
Gene: ENSMUSG00000024406
AA Change: V89M

DomainStartEndE-ValueType
POU 1 74 1.3e-45 SMART
Pfam:Homeobox 93 132 1.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174782
AA Change: V114M

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000134493
Gene: ENSMUSG00000024406
AA Change: V114M

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,673,500 P1189L probably benign Het
Acbd4 G A 11: 103,104,439 D57N probably damaging Het
Acot4 A T 12: 84,038,742 M78L probably damaging Het
Ago1 A T 4: 126,461,788 M76K probably benign Het
Agrn G T 4: 156,177,299 Y511* probably null Het
Arhgef15 A T 11: 68,947,681 probably null Het
Atp1a3 A T 7: 24,989,853 M594K probably damaging Het
Atp4a G A 7: 30,720,368 probably null Het
Bckdk T A 7: 127,907,317 I272N probably damaging Het
Bod1l A G 5: 41,832,279 V367A probably benign Het
C1galt1c1 T C X: 38,631,268 M284V possibly damaging Het
Cenpk T A 13: 104,229,597 C4* probably null Het
Cfap53 T C 18: 74,283,223 V9A possibly damaging Het
Chil3 T C 3: 106,160,478 I124V possibly damaging Het
Creld2 G A 15: 88,820,631 W103* probably null Het
Cyp2c67 T C 19: 39,626,237 Y282C probably benign Het
D5Ertd579e C T 5: 36,613,449 A1201T probably benign Het
Dock4 A G 12: 40,692,989 H381R probably benign Het
Drc1 C T 5: 30,356,441 S447F probably benign Het
Fam83g G T 11: 61,703,458 R606L probably benign Het
Fmnl1 A C 11: 103,194,692 S688R probably benign Het
Fryl C T 5: 73,122,299 V219I probably benign Het
Gm13101 A T 4: 143,965,820 Y204N probably benign Het
Golgb1 T A 16: 36,914,664 N1424K probably benign Het
Gpr39 T C 1: 125,677,884 V183A possibly damaging Het
H2-T22 A T 17: 36,040,517 Y274N probably benign Het
Hif1a T A 12: 73,937,745 Y313N probably damaging Het
Hip1r T A 5: 124,000,204 M787K probably damaging Het
Hipk3 T C 2: 104,439,392 E484G probably damaging Het
Hsh2d T A 8: 72,200,646 F291I probably benign Het
Ino80 T C 2: 119,431,929 E692G probably null Het
Itgam T A 7: 128,081,712 V271D probably damaging Het
Kansl1 A C 11: 104,335,559 I924S probably damaging Het
Kcnq2 A G 2: 181,081,352 C628R probably benign Het
Krt78 A C 15: 101,947,414 V654G possibly damaging Het
Lrit2 A G 14: 37,071,956 T326A probably damaging Het
Ltk T C 2: 119,752,088 E710G probably damaging Het
Lysmd1 T C 3: 95,134,974 L53S probably damaging Het
Mc4r T C 18: 66,859,598 Y148C probably damaging Het
Mfn2 G A 4: 147,888,705 Q172* probably null Het
Mknk2 A G 10: 80,668,601 L242P possibly damaging Het
Mrpl45 A T 11: 97,325,747 H167L probably benign Het
Myc T C 15: 61,988,102 V208A probably damaging Het
Myh7b A G 2: 155,629,457 E1175G probably benign Het
Myo18a A T 11: 77,850,234 M1456L probably benign Het
Myocd G A 11: 65,218,658 Q96* probably null Het
Nckap5 T A 1: 126,026,518 I766F probably damaging Het
Ndst1 T C 18: 60,691,253 E784G probably benign Het
Nf1 A T 11: 79,469,826 R1443S possibly damaging Het
Nhlrc3 A G 3: 53,453,651 W228R probably damaging Het
Nup107 G A 10: 117,773,320 T378I probably damaging Het
Olfr1033 C T 2: 86,041,330 T5I probably damaging Het
Olfr1131 A G 2: 87,628,939 T159A probably benign Het
Olfr293 A T 7: 86,664,383 K240N probably damaging Het
Olfr524 T A 7: 140,202,743 D9V probably benign Het
Olfr607 T A 7: 103,460,273 probably null Het
Olfr98 A T 17: 37,263,073 M197K probably benign Het
Otop1 A G 5: 38,300,458 D520G probably benign Het
Papln C T 12: 83,780,236 P712S probably benign Het
Pcbd2 T A 13: 55,733,033 I34N probably damaging Het
Pkd1l3 T A 8: 109,647,573 C29* probably null Het
Prpf4b C A 13: 34,884,231 probably benign Het
Prr23a1 C T 9: 98,842,656 P24S probably damaging Het
Ptch1 T A 13: 63,545,245 M65L probably benign Het
Rc3h2 A T 2: 37,399,624 I392K possibly damaging Het
Reck G T 4: 43,943,195 D916Y probably damaging Het
Rtf2 A G 2: 172,445,365 D68G probably damaging Het
Ryr1 G T 7: 29,090,150 T1513K probably damaging Het
Sacs A G 14: 61,173,441 D55G possibly damaging Het
Scn9a A G 2: 66,568,183 S28P probably benign Het
Scrn3 A G 2: 73,329,852 M280V probably damaging Het
Snx29 C T 16: 11,511,034 T559I possibly damaging Het
Spn C T 7: 127,136,241 E109K probably damaging Het
Sra1 C T 18: 36,675,068 R369H probably benign Het
Srsf11 C T 3: 158,019,345 A64T probably damaging Het
Stk17b A G 1: 53,776,605 S12P probably benign Het
Sult1d1 C A 5: 87,559,802 G153V probably damaging Het
Sycp2 A T 2: 178,350,138 probably null Het
Tgfb3 T C 12: 86,069,769 E165G possibly damaging Het
Tns2 C A 15: 102,107,506 H160N probably benign Het
Ubn1 T A 16: 5,077,224 C711* probably null Het
Usp13 A T 3: 32,901,986 D469V probably damaging Het
Vmn1r231 A T 17: 20,890,118 H178Q possibly damaging Het
Vwa1 A G 4: 155,772,793 S183P probably damaging Het
Xpo7 A G 14: 70,690,991 I424T probably benign Het
Zfp109 A G 7: 24,236,616 probably null 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
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
R8171:Pou5f1 UTSW 17 35510036 missense probably benign 0.26
R8914:Pou5f1 UTSW 17 35510474 missense probably benign 0.00
R8957:Pou5f1 UTSW 17 35510469 missense possibly damaging 0.86
R9122:Pou5f1 UTSW 17 35509056 missense probably benign 0.00
R9632:Pou5f1 UTSW 17 35508834 start gained probably benign
X0027:Pou5f1 UTSW 17 35506446 missense probably benign
Predicted Primers PCR Primer
(F):5'- TCTAGTGCTGGTGAAGGCTCAG -3'
(R):5'- AACATCCAGGTACCACAGGG -3'

Sequencing Primer
(F):5'- TGAAGGCTCAGACCTAGGTC -3'
(R):5'- GCAGGATCTTGGCACTCACATC -3'
Posted On 2014-09-18