Incidental Mutation 'R4953:Pou5f1'
ID 446614
Institutional Source Beutler Lab
Gene Symbol Pou5f1
Ensembl Gene ENSMUSG00000024406
Gene Name POU domain, class 5, transcription factor 1
Synonyms Otf3-rs7, Otf3, Otf4, Otf-3, Oct-3/4, Oct-3, Otf-4, Oct3/4, Oct-4, Otf3g, Oct4
MMRRC Submission 042550-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4953 (G1)
Quality Score 45
Status Validated
Chromosome 17
Chromosomal Location 35816929-35821674 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35821438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 350 (H350L)
Ref Sequence ENSEMBL: ENSMUSP00000025271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025271] [ENSMUST00000159009] [ENSMUST00000160885] [ENSMUST00000161012] [ENSMUST00000162683] [ENSMUST00000172651] [ENSMUST00000173805] [ENSMUST00000173934] [ENSMUST00000173256] [ENSMUST00000174782]
AlphaFold P20263
PDB Structure SOLUTION STRUCTURE OF OCT3 POU-HOMEODOMAIN [SOLUTION NMR]
POU protein:DNA complex [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025271
AA Change: H350L

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000025271
Gene: ENSMUSG00000024406
AA Change: H350L

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
SMART Domains Protein: ENSMUSP00000134654
Gene: ENSMUSG00000024406

DomainStartEndE-ValueType
POU 1 74 1.3e-45 SMART
Pfam:Homeobox 93 132 1.2e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175723
Predicted Effect probably benign
Transcript: ENSMUST00000173805
SMART Domains Protein: ENSMUSP00000133633
Gene: ENSMUSG00000024406

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
POU 25 99 2.88e-47 SMART
Pfam:Homeobox 118 157 1.1e-8 PFAM
Meta Mutation Damage Score 0.1146 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 97% (113/116)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,128,525 (GRCm39) Y129H probably damaging Het
Adcy4 C T 14: 56,016,486 (GRCm39) D322N probably damaging Het
Adgre1 G A 17: 57,748,321 (GRCm39) G507E probably damaging Het
Agpat5 G A 8: 18,918,971 (GRCm39) V118I probably benign Het
Aif1 T C 17: 35,390,074 (GRCm39) probably null Het
Akr1c6 A T 13: 4,488,608 (GRCm39) probably null Het
Akt2 T A 7: 27,337,597 (GRCm39) probably null Het
Ankrd35 T A 3: 96,590,989 (GRCm39) L425Q possibly damaging Het
Arhgap40 A G 2: 158,385,326 (GRCm39) T520A possibly damaging Het
Arhgef28 T A 13: 98,066,062 (GRCm39) D1597V possibly damaging Het
Aspm A G 1: 139,399,472 (GRCm39) D1079G probably benign Het
Atp1a2 A T 1: 172,119,009 (GRCm39) probably benign Het
Cage1 C A 13: 38,207,406 (GRCm39) E252D possibly damaging Het
Ccdc185 A G 1: 182,576,582 (GRCm39) S36P possibly damaging Het
Cd300a T C 11: 114,784,247 (GRCm39) V85A probably damaging Het
Cd38 A C 5: 44,064,887 (GRCm39) D235A possibly damaging Het
Cdcp1 T C 9: 123,009,088 (GRCm39) K530R probably benign Het
Ceacam20 T A 7: 19,705,651 (GRCm39) L214Q probably damaging Het
Cntn4 G A 6: 106,502,379 (GRCm39) A379T probably benign Het
Col4a2 A T 8: 11,479,505 (GRCm39) E796V probably benign Het
Copa A G 1: 171,910,453 (GRCm39) probably benign Het
Cpa5 A G 6: 30,631,363 (GRCm39) T426A possibly damaging Het
Csmd1 A G 8: 16,249,931 (GRCm39) F1016L probably damaging Het
Cyb5r3 A T 15: 83,042,822 (GRCm39) L290* probably null Het
Ddx42 A G 11: 106,133,766 (GRCm39) T581A probably damaging Het
Deaf1 C T 7: 140,902,381 (GRCm39) G221S probably damaging Het
Dnah6 A G 6: 73,165,366 (GRCm39) S580P probably benign Het
Dock1 A G 7: 134,754,017 (GRCm39) E1598G probably benign Het
Drg2 T C 11: 60,350,262 (GRCm39) probably benign Het
Eif3f C A 7: 108,533,847 (GRCm39) probably benign Het
Fam184a G T 10: 53,574,901 (GRCm39) T236K probably benign Het
Gas7 C T 11: 67,550,876 (GRCm39) T126M possibly damaging Het
Gckr T G 5: 31,465,608 (GRCm39) F408C probably damaging Het
Gm17472 A G 6: 42,958,004 (GRCm39) D91G probably damaging Het
Gm5117 G A 8: 32,228,608 (GRCm39) noncoding transcript Het
Gsto1 T A 19: 47,843,759 (GRCm39) I47N probably damaging Het
Hck C T 2: 152,976,597 (GRCm39) P244S probably damaging Het
Hif3a T C 7: 16,784,490 (GRCm39) T250A probably damaging Het
Hmcn1 A T 1: 150,752,111 (GRCm39) probably benign Het
Impa1 G A 3: 10,380,340 (GRCm39) S247F probably damaging Het
Ints14 G C 9: 64,889,340 (GRCm39) R397P probably damaging Het
Iqgap1 T C 7: 80,373,524 (GRCm39) probably null Het
Krt1c T C 15: 101,722,377 (GRCm39) K436R probably damaging Het
Lama3 G A 18: 12,581,362 (GRCm39) C607Y probably damaging Het
Loxl4 G T 19: 42,599,133 (GRCm39) probably benign Het
Lrrc8d C T 5: 105,961,234 (GRCm39) T548M probably damaging Het
Man1b1 T A 2: 25,228,196 (GRCm39) D155E probably damaging Het
Mapk8ip2 C T 15: 89,341,431 (GRCm39) P214L probably benign Het
Mast1 G A 8: 85,645,357 (GRCm39) T696I probably damaging Het
Muc15 C T 2: 110,561,617 (GRCm39) P18S probably damaging Het
Mybl2 T C 2: 162,922,716 (GRCm39) S205P probably damaging Het
Mylk T C 16: 34,809,331 (GRCm39) S1763P probably damaging Het
Nek10 T A 14: 14,860,986 (GRCm38) L513M possibly damaging Het
Nfib A G 4: 82,271,808 (GRCm39) M252T probably benign Het
Nid2 C A 14: 19,828,146 (GRCm39) Y261* probably null Het
Nmd3 C T 3: 69,638,970 (GRCm39) R187C possibly damaging Het
Nomo1 G T 7: 45,700,155 (GRCm39) probably benign Het
Npy4r A G 14: 33,868,437 (GRCm39) F284L probably damaging Het
Nt5dc2 T C 14: 30,860,878 (GRCm39) V351A possibly damaging Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or5b121 T A 19: 13,507,178 (GRCm39) L91Q probably null Het
Or5g27 T A 2: 85,410,069 (GRCm39) L162* probably null Het
Pcdhb12 T A 18: 37,569,209 (GRCm39) D118E probably damaging Het
Pdcd11 C T 19: 47,116,404 (GRCm39) T1518I probably benign Het
Pde6a T A 18: 61,364,434 (GRCm39) C163* probably null Het
Pign A T 1: 105,572,227 (GRCm39) W314R probably benign Het
Pip5k1b T A 19: 24,367,799 (GRCm39) H76L probably damaging Het
Plcz1 T C 6: 139,974,277 (GRCm39) N55S possibly damaging Het
Rchy1 A T 5: 92,110,487 (GRCm39) probably null Het
Ric8b A G 10: 84,793,946 (GRCm39) T270A possibly damaging Het
Rprml A G 11: 103,540,644 (GRCm39) E13G probably benign Het
Secisbp2 T A 13: 51,836,063 (GRCm39) I719N probably damaging Het
Sergef C T 7: 46,283,259 (GRCm39) R148H probably benign Het
Serpina6 T A 12: 103,618,221 (GRCm39) probably null Het
Sirpb1b C A 3: 15,613,887 (GRCm39) W65L probably damaging Het
Slc32a1 A T 2: 158,455,977 (GRCm39) I211F possibly damaging Het
Slc5a9 C A 4: 111,748,941 (GRCm39) probably null Het
Smarce1 A G 11: 99,105,977 (GRCm39) V226A probably benign Het
Spata31d1b A T 13: 59,864,097 (GRCm39) E415V probably damaging Het
Speg G A 1: 75,400,508 (GRCm39) R2556H possibly damaging Het
Suclg2 A C 6: 95,543,417 (GRCm39) V338G probably damaging Het
Tarbp1 T C 8: 127,174,184 (GRCm39) E874G possibly damaging Het
Tex14 G T 11: 87,427,727 (GRCm39) probably null Het
Trim36 T A 18: 46,329,245 (GRCm39) D53V possibly damaging Het
Tsga10ip T A 19: 5,444,368 (GRCm39) Y21F possibly damaging Het
Ttn C T 2: 76,620,289 (GRCm39) V15849M probably damaging Het
Ube3b T C 5: 114,539,471 (GRCm39) S421P probably benign Het
Unc5a A T 13: 55,147,683 (GRCm39) M498L probably benign Het
Vipr2 A G 12: 116,107,876 (GRCm39) I420M probably benign Het
Vmn1r179 T A 7: 23,628,515 (GRCm39) H235Q probably damaging Het
Vps35 T A 8: 86,008,475 (GRCm39) I267F probably damaging Het
Wdr26 G A 1: 181,025,216 (GRCm39) R279W probably damaging Het
Xpo6 C A 7: 125,768,443 (GRCm39) R88L probably damaging Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp105 T A 9: 122,758,880 (GRCm39) S184T probably benign Het
Zfp574 G A 7: 24,780,388 (GRCm39) R470H probably damaging Het
Zswim9 T A 7: 13,003,484 (GRCm39) H122L probably damaging Het
Other mutations in Pou5f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02744:Pou5f1 APN 17 35,820,311 (GRCm39) missense probably damaging 1.00
IGL03062:Pou5f1 APN 17 35,820,936 (GRCm39) missense possibly damaging 0.86
IGL03091:Pou5f1 APN 17 35,820,939 (GRCm39) missense probably benign 0.32
R0553:Pou5f1 UTSW 17 35,820,374 (GRCm39) missense possibly damaging 0.76
R2105:Pou5f1 UTSW 17 35,820,899 (GRCm39) missense probably benign 0.01
R2231:Pou5f1 UTSW 17 35,820,959 (GRCm39) missense probably benign
R4691:Pou5f1 UTSW 17 35,817,028 (GRCm39) missense probably damaging 0.98
R6208:Pou5f1 UTSW 17 35,821,357 (GRCm39) missense possibly damaging 0.50
R8171:Pou5f1 UTSW 17 35,820,933 (GRCm39) missense probably benign 0.26
R8914:Pou5f1 UTSW 17 35,821,371 (GRCm39) missense probably benign 0.00
R8957:Pou5f1 UTSW 17 35,821,366 (GRCm39) missense possibly damaging 0.86
R9122:Pou5f1 UTSW 17 35,819,953 (GRCm39) missense probably benign 0.00
R9632:Pou5f1 UTSW 17 35,819,731 (GRCm39) start gained probably benign
X0027:Pou5f1 UTSW 17 35,817,343 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGTATTGAGTATTCCCAACGAGAAGAG -3'
(R):5'- TGATGAGTGACAGACAGGCC -3'

Sequencing Primer
(F):5'- TATTCCCAACGAGAAGAGTATGAGGC -3'
(R):5'- GCCAGGCTCCTGATCAACAG -3'
Posted On 2016-11-23