Incidental Mutation 'R9151:Pou2f1'
ID 720404
Institutional Source Beutler Lab
Gene Symbol Pou2f1
Ensembl Gene ENSMUSG00000026565
Gene Name POU domain, class 2, transcription factor 1
Synonyms Oct-1z, Oct-1A, Oct-1B, Oct-1C, oct-1, Oct1, 2810482H01Rik, Otf-1, Otf1
MMRRC Submission 068973-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9151 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 165692723-165830247 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 165703640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000027850] [ENSMUST00000069609] [ENSMUST00000111426] [ENSMUST00000111427] [ENSMUST00000111429] [ENSMUST00000159212] [ENSMUST00000160260] [ENSMUST00000160908] [ENSMUST00000161971] [ENSMUST00000178336] [ENSMUST00000184643] [ENSMUST00000187313]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027850
SMART Domains Protein: ENSMUSP00000027850
Gene: ENSMUSG00000026565

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
low complexity region 94 123 N/A INTRINSIC
low complexity region 137 152 N/A INTRINSIC
low complexity region 171 192 N/A INTRINSIC
low complexity region 199 217 N/A INTRINSIC
POU 241 315 1.55e-52 SMART
low complexity region 316 332 N/A INTRINSIC
HOX 342 404 2.54e-19 SMART
low complexity region 422 448 N/A INTRINSIC
low complexity region 453 520 N/A INTRINSIC
low complexity region 529 567 N/A INTRINSIC
low complexity region 675 685 N/A INTRINSIC
low complexity region 688 705 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000069609
SMART Domains Protein: ENSMUSP00000064000
Gene: ENSMUSG00000026565

DomainStartEndE-ValueType
low complexity region 83 112 N/A INTRINSIC
low complexity region 130 172 N/A INTRINSIC
low complexity region 189 204 N/A INTRINSIC
low complexity region 223 244 N/A INTRINSIC
low complexity region 251 269 N/A INTRINSIC
POU 293 367 1.55e-52 SMART
low complexity region 368 384 N/A INTRINSIC
HOX 394 456 2.54e-19 SMART
low complexity region 474 500 N/A INTRINSIC
low complexity region 505 572 N/A INTRINSIC
low complexity region 581 619 N/A INTRINSIC
low complexity region 727 737 N/A INTRINSIC
low complexity region 740 757 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111426
SMART Domains Protein: ENSMUSP00000107055
Gene: ENSMUSG00000026565

DomainStartEndE-ValueType
low complexity region 83 112 N/A INTRINSIC
low complexity region 130 172 N/A INTRINSIC
low complexity region 189 204 N/A INTRINSIC
low complexity region 223 244 N/A INTRINSIC
low complexity region 251 269 N/A INTRINSIC
POU 293 367 6.7e-55 SMART
low complexity region 368 384 N/A INTRINSIC
HOX 394 456 1.3e-21 SMART
low complexity region 474 500 N/A INTRINSIC
low complexity region 531 596 N/A INTRINSIC
low complexity region 605 643 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111427
SMART Domains Protein: ENSMUSP00000107056
Gene: ENSMUSG00000026565

DomainStartEndE-ValueType
low complexity region 83 112 N/A INTRINSIC
low complexity region 130 172 N/A INTRINSIC
low complexity region 189 204 N/A INTRINSIC
low complexity region 223 244 N/A INTRINSIC
low complexity region 251 269 N/A INTRINSIC
POU 293 367 1.55e-52 SMART
low complexity region 368 384 N/A INTRINSIC
HOX 394 456 2.54e-19 SMART
low complexity region 474 500 N/A INTRINSIC
low complexity region 531 596 N/A INTRINSIC
low complexity region 605 643 N/A INTRINSIC
low complexity region 751 761 N/A INTRINSIC
low complexity region 764 781 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111429
SMART Domains Protein: ENSMUSP00000107057
Gene: ENSMUSG00000026565

DomainStartEndE-ValueType
low complexity region 71 100 N/A INTRINSIC
low complexity region 118 160 N/A INTRINSIC
low complexity region 177 192 N/A INTRINSIC
low complexity region 211 232 N/A INTRINSIC
low complexity region 239 257 N/A INTRINSIC
POU 281 355 6.7e-55 SMART
low complexity region 356 372 N/A INTRINSIC
HOX 382 444 1.3e-21 SMART
low complexity region 462 488 N/A INTRINSIC
low complexity region 493 560 N/A INTRINSIC
low complexity region 569 607 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159212
SMART Domains Protein: ENSMUSP00000125371
Gene: ENSMUSG00000026565

DomainStartEndE-ValueType
low complexity region 71 100 N/A INTRINSIC
low complexity region 118 160 N/A INTRINSIC
low complexity region 177 192 N/A INTRINSIC
low complexity region 211 232 N/A INTRINSIC
low complexity region 239 257 N/A INTRINSIC
POU 281 355 1.55e-52 SMART
low complexity region 356 372 N/A INTRINSIC
HOX 382 444 2.54e-19 SMART
low complexity region 462 488 N/A INTRINSIC
low complexity region 493 560 N/A INTRINSIC
low complexity region 569 607 N/A INTRINSIC
low complexity region 715 725 N/A INTRINSIC
low complexity region 728 745 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160260
SMART Domains Protein: ENSMUSP00000124738
Gene: ENSMUSG00000026565

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
low complexity region 94 123 N/A INTRINSIC
low complexity region 141 183 N/A INTRINSIC
low complexity region 200 215 N/A INTRINSIC
low complexity region 234 255 N/A INTRINSIC
low complexity region 262 280 N/A INTRINSIC
POU 304 378 1.55e-52 SMART
low complexity region 379 395 N/A INTRINSIC
HOX 405 467 2.54e-19 SMART
low complexity region 485 511 N/A INTRINSIC
low complexity region 542 607 N/A INTRINSIC
low complexity region 616 654 N/A INTRINSIC
low complexity region 762 772 N/A INTRINSIC
low complexity region 775 792 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160908
SMART Domains Protein: ENSMUSP00000125444
Gene: ENSMUSG00000026565

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
low complexity region 94 123 N/A INTRINSIC
low complexity region 141 183 N/A INTRINSIC
low complexity region 200 215 N/A INTRINSIC
low complexity region 234 255 N/A INTRINSIC
low complexity region 262 280 N/A INTRINSIC
POU 304 378 1.55e-52 SMART
low complexity region 379 395 N/A INTRINSIC
HOX 405 467 2.54e-19 SMART
low complexity region 485 511 N/A INTRINSIC
low complexity region 516 583 N/A INTRINSIC
low complexity region 592 630 N/A INTRINSIC
low complexity region 738 748 N/A INTRINSIC
low complexity region 751 768 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161971
SMART Domains Protein: ENSMUSP00000124297
Gene: ENSMUSG00000005763

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:TCR_zetazeta 28 60 1.5e-23 PFAM
ITAM 69 89 6.91e-5 SMART
ITAM 108 129 1.27e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178336
SMART Domains Protein: ENSMUSP00000136456
Gene: ENSMUSG00000005763

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:TCR_zetazeta 28 60 1.7e-23 PFAM
ITAM 69 89 6.91e-5 SMART
ITAM 108 129 1.27e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184643
SMART Domains Protein: ENSMUSP00000138962
Gene: ENSMUSG00000026565

DomainStartEndE-ValueType
low complexity region 71 100 N/A INTRINSIC
low complexity region 118 160 N/A INTRINSIC
low complexity region 177 192 N/A INTRINSIC
low complexity region 211 232 N/A INTRINSIC
low complexity region 239 257 N/A INTRINSIC
POU 281 355 6.7e-55 SMART
low complexity region 356 372 N/A INTRINSIC
HOX 382 444 1.3e-21 SMART
low complexity region 462 488 N/A INTRINSIC
low complexity region 493 560 N/A INTRINSIC
low complexity region 569 607 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000184799
Predicted Effect probably benign
Transcript: ENSMUST00000187313
SMART Domains Protein: ENSMUSP00000140926
Gene: ENSMUSG00000005763

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:TCR_zetazeta 28 60 2.5e-23 PFAM
ITAM 69 89 6.91e-5 SMART
ITAM 108 129 1.27e-3 SMART
low complexity region 195 204 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194366
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The OCT1 transcription factor was among the first identified members of the POU transcription factor family (summarized by Sturm et al., 1993 [PubMed 8314572]). Members of this family contain the POU domain, a 160-amino acid region necessary for DNA binding to the octameric sequence ATGCAAAT.[supplied by OMIM, Jul 2010]
PHENOTYPE: Homozygous mutation of this gene results in prenatal lethality, with earlier lethality on either a 129/Sv or C57BL/6 background than a mixed 129/Sv and C57BL/6 background. Embryos show decreased erythropoiesis and partial penetrance of small lens size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,188,908 (GRCm39) F850L probably benign Het
Adam1a A T 5: 121,657,411 (GRCm39) D627E probably damaging Het
Add2 C A 6: 86,081,459 (GRCm39) probably benign Het
Anpep T C 7: 79,491,785 (GRCm39) N72S probably benign Het
Aqp6 A G 15: 99,501,655 (GRCm39) T238A possibly damaging Het
Arhgef38 G T 3: 132,912,706 (GRCm39) T111K Het
Atg10 A G 13: 91,189,032 (GRCm39) Y93H probably damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Cald1 A G 6: 34,732,682 (GRCm39) N286S unknown Het
Caps2 A T 10: 112,031,829 (GRCm39) I322F possibly damaging Het
Cbx3 T A 6: 51,455,533 (GRCm39) S95T probably benign Het
Ccdc24 T C 4: 117,727,102 (GRCm39) T83A unknown Het
Cntn1 T C 15: 92,140,864 (GRCm39) Y197H probably damaging Het
Cpd A G 11: 76,675,275 (GRCm39) I1282T possibly damaging Het
Crat A T 2: 30,295,052 (GRCm39) S454R probably damaging Het
D2hgdh G A 1: 93,754,338 (GRCm39) V126I probably benign Het
Dcst1 A G 3: 89,271,558 (GRCm39) V75A probably benign Het
Dnm1l T C 16: 16,176,668 (GRCm39) D21G probably benign Het
Evc2 A G 5: 37,504,823 (GRCm39) N74D probably benign Het
Gm19965 A T 1: 116,748,942 (GRCm39) M208L Het
Gprc6a T G 10: 51,497,182 (GRCm39) T454P possibly damaging Het
Gprin1 C T 13: 54,886,778 (GRCm39) V499M probably benign Het
Gtf3c5 A G 2: 28,463,577 (GRCm39) Y194H probably damaging Het
Hcn4 T C 9: 58,767,880 (GRCm39) V1147A possibly damaging Het
Ighv1-82 A C 12: 115,916,342 (GRCm39) V56G probably damaging Het
Ins2 T C 7: 142,232,505 (GRCm39) D93G possibly damaging Het
Itgb8 A G 12: 119,130,535 (GRCm39) S658P probably benign Het
Kcnmb1 T C 11: 33,920,263 (GRCm39) F159L probably benign Het
Klf1 C T 8: 85,629,954 (GRCm39) L260F probably benign Het
Larp4 T A 15: 99,888,205 (GRCm39) S140T possibly damaging Het
Maneal C A 4: 124,755,542 (GRCm39) R140L probably benign Het
Mfsd11 T A 11: 116,750,323 (GRCm39) V114D Het
Muc4 A G 16: 32,752,617 (GRCm38) T832A probably benign Het
Myh11 T G 16: 14,050,439 (GRCm39) I509L Het
Myh13 A T 11: 67,252,149 (GRCm39) E1419V probably damaging Het
Myh7b A G 2: 155,474,439 (GRCm39) E1718G probably damaging Het
Myo9b T A 8: 71,807,871 (GRCm39) probably benign Het
Notch1 A T 2: 26,367,939 (GRCm39) L656Q probably benign Het
Nova1 A G 12: 46,746,813 (GRCm39) I488T probably damaging Het
Or51r1 A T 7: 102,228,500 (GRCm39) E266V probably damaging Het
Or5b113 A T 19: 13,342,222 (GRCm39) T77S possibly damaging Het
Or5b21 A G 19: 12,839,976 (GRCm39) Y279C probably damaging Het
Or5d18 A G 2: 87,864,697 (GRCm39) V262A probably damaging Het
Or6c35 A G 10: 129,169,623 (GRCm39) N291S probably damaging Het
Or6d13 A T 6: 116,517,990 (GRCm39) N192I possibly damaging Het
Pax6 C T 2: 105,523,097 (GRCm39) S325L probably benign Het
Phldb1 T C 9: 44,619,740 (GRCm39) D142G probably null Het
Phldb3 T G 7: 24,324,048 (GRCm39) probably benign Het
Pikfyve G T 1: 65,235,898 (GRCm39) R190L probably damaging Het
Plagl2 A T 2: 153,074,540 (GRCm39) H120Q probably damaging Het
Pramel58 A G 5: 94,831,836 (GRCm39) Y281C possibly damaging Het
Prpf6 A G 2: 181,250,001 (GRCm39) R54G possibly damaging Het
Prss33 T C 17: 24,052,966 (GRCm39) E236G probably benign Het
Ptpru T C 4: 131,522,278 (GRCm39) Y709C probably benign Het
Rcc1l A G 5: 134,197,057 (GRCm39) V212A probably benign Het
Rtl1 G A 12: 109,560,007 (GRCm39) L611F Het
Scp2 A G 4: 107,931,603 (GRCm39) I344T possibly damaging Het
Serpinb2 A T 1: 107,449,890 (GRCm39) D101V possibly damaging Het
Slc13a1 T C 6: 24,097,662 (GRCm39) T422A probably damaging Het
Slc38a10 G T 11: 120,007,762 (GRCm39) T406K probably benign Het
Smad4 T C 18: 73,782,806 (GRCm39) E376G probably damaging Het
Smarcb1 T C 10: 75,750,916 (GRCm39) E115G probably benign Het
Spata31h1 A T 10: 82,120,928 (GRCm39) H4027Q probably damaging Het
Taf5 G A 19: 47,063,370 (GRCm39) V307I probably damaging Het
Tnc T C 4: 63,938,686 (GRCm39) N51S possibly damaging Het
Trp53inp2 G T 2: 155,228,558 (GRCm39) R171L possibly damaging Het
Ttc13 A T 8: 125,402,021 (GRCm39) D579E probably benign Het
Ttn A T 2: 76,775,896 (GRCm39) N1761K unknown Het
Ttpa C T 4: 20,008,401 (GRCm39) probably benign Het
Ugt3a1 G A 15: 9,362,051 (GRCm39) V276I probably benign Het
Usp4 T A 9: 108,244,011 (GRCm39) H296Q probably benign Het
Vmn1r119 T A 7: 20,745,593 (GRCm39) H263L possibly damaging Het
Vmn2r81 A G 10: 79,103,905 (GRCm39) D176G Het
Wdr1 A T 5: 38,687,468 (GRCm39) probably benign Het
Zfp488 T G 14: 33,692,695 (GRCm39) Q156P possibly damaging Het
Other mutations in Pou2f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Pou2f1 APN 1 165,729,867 (GRCm39) missense probably damaging 1.00
IGL00392:Pou2f1 APN 1 165,724,159 (GRCm39) splice site probably benign
IGL01627:Pou2f1 APN 1 165,708,002 (GRCm39) unclassified probably benign
IGL01707:Pou2f1 APN 1 165,742,685 (GRCm39) missense probably damaging 0.96
IGL02735:Pou2f1 APN 1 165,703,396 (GRCm39) missense probably damaging 1.00
IGL02740:Pou2f1 APN 1 165,710,685 (GRCm39) nonsense probably null
IGL03117:Pou2f1 APN 1 165,762,382 (GRCm39) missense probably benign 0.00
IGL03272:Pou2f1 APN 1 165,724,049 (GRCm39) missense possibly damaging 0.67
R0021:Pou2f1 UTSW 1 165,703,587 (GRCm39) missense probably damaging 1.00
R1437:Pou2f1 UTSW 1 165,719,399 (GRCm39) missense probably damaging 0.98
R2171:Pou2f1 UTSW 1 165,707,925 (GRCm39) unclassified probably benign
R3722:Pou2f1 UTSW 1 165,722,538 (GRCm39) missense probably damaging 1.00
R3789:Pou2f1 UTSW 1 165,722,538 (GRCm39) missense probably damaging 1.00
R3790:Pou2f1 UTSW 1 165,722,538 (GRCm39) missense probably damaging 1.00
R3901:Pou2f1 UTSW 1 165,722,538 (GRCm39) missense probably damaging 1.00
R4225:Pou2f1 UTSW 1 165,738,889 (GRCm39) missense possibly damaging 0.79
R4459:Pou2f1 UTSW 1 165,722,575 (GRCm39) missense probably damaging 1.00
R4460:Pou2f1 UTSW 1 165,722,575 (GRCm39) missense probably damaging 1.00
R4573:Pou2f1 UTSW 1 165,740,830 (GRCm39) missense probably benign 0.29
R4820:Pou2f1 UTSW 1 165,719,517 (GRCm39) intron probably benign
R4838:Pou2f1 UTSW 1 165,744,492 (GRCm39) missense probably null 1.00
R5579:Pou2f1 UTSW 1 165,742,731 (GRCm39) missense probably damaging 1.00
R5856:Pou2f1 UTSW 1 165,742,699 (GRCm39) missense probably benign 0.14
R5951:Pou2f1 UTSW 1 165,710,625 (GRCm39) unclassified probably benign
R6128:Pou2f1 UTSW 1 165,703,056 (GRCm39) unclassified probably benign
R6145:Pou2f1 UTSW 1 165,703,002 (GRCm39) unclassified probably benign
R6216:Pou2f1 UTSW 1 165,707,889 (GRCm39) unclassified probably benign
R6971:Pou2f1 UTSW 1 165,759,258 (GRCm39) missense probably damaging 0.98
R7052:Pou2f1 UTSW 1 165,742,684 (GRCm39) missense possibly damaging 0.59
R7403:Pou2f1 UTSW 1 165,738,955 (GRCm39) missense unknown
R7404:Pou2f1 UTSW 1 165,738,955 (GRCm39) missense unknown
R7741:Pou2f1 UTSW 1 165,703,444 (GRCm39) missense probably damaging 0.98
R8011:Pou2f1 UTSW 1 165,722,472 (GRCm39) critical splice donor site probably null
R8478:Pou2f1 UTSW 1 165,759,287 (GRCm39) start codon destroyed probably null
R8804:Pou2f1 UTSW 1 165,708,039 (GRCm39) missense unknown
R8892:Pou2f1 UTSW 1 165,708,027 (GRCm39) missense unknown
R9126:Pou2f1 UTSW 1 165,722,603 (GRCm39) missense unknown
R9469:Pou2f1 UTSW 1 165,740,830 (GRCm39) missense probably benign 0.29
R9665:Pou2f1 UTSW 1 165,703,600 (GRCm39) missense probably damaging 0.99
RF012:Pou2f1 UTSW 1 165,740,800 (GRCm39) missense unknown
X0022:Pou2f1 UTSW 1 165,724,025 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CAAGCTTACTGGGTTGCTGG -3'
(R):5'- ACTGGTCTGCAACTCTCATGATTC -3'

Sequencing Primer
(F):5'- CTGGTGAGCAGAGAGAGGTTCTG -3'
(R):5'- GCAACTCTCATGATTCCTCCCTG -3'
Posted On 2022-08-08