Incidental Mutation 'R0021:Pou2f1'
ID 218427
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 038316-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0021 (G1)
Quality Score 64
Status Validated
Chromosome 1
Chromosomal Location 165692723-165830247 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 165703587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 654 (T654M)
Ref Sequence ENSEMBL: ENSMUSP00000138962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027850] [ENSMUST00000069609] [ENSMUST00000111426] [ENSMUST00000111427] [ENSMUST00000111429] [ENSMUST00000159212] [ENSMUST00000160260] [ENSMUST00000160908] [ENSMUST00000184643] [ENSMUST00000178336] [ENSMUST00000161971] [ENSMUST00000187313]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000027850
AA Change: T614M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027850
Gene: ENSMUSG00000026565
AA Change: T614M

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 damaging
Transcript: ENSMUST00000069609
AA Change: T666M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064000
Gene: ENSMUSG00000026565
AA Change: T666M

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 noncoding transcript
Transcript: ENSMUST00000082225
SMART Domains Protein: ENSMUSP00000080856
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
POU 233 309 4.88e-27 SMART
low complexity region 310 326 N/A INTRINSIC
HOX 336 398 2.54e-19 SMART
low complexity region 416 442 N/A INTRINSIC
low complexity region 447 514 N/A INTRINSIC
low complexity region 523 561 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 damaging
Transcript: ENSMUST00000111427
AA Change: T690M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107056
Gene: ENSMUSG00000026565
AA Change: T690M

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 damaging
Transcript: ENSMUST00000111429
AA Change: T654M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107057
Gene: ENSMUSG00000026565
AA Change: T654M

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 damaging
Transcript: ENSMUST00000160260
AA Change: T701M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124738
Gene: ENSMUSG00000026565
AA Change: T701M

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 damaging
Transcript: ENSMUST00000160908
AA Change: T677M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125444
Gene: ENSMUSG00000026565
AA Change: T677M

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 damaging
Transcript: ENSMUST00000184643
AA Change: T654M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138962
Gene: ENSMUSG00000026565
AA Change: T654M

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 noncoding transcript
Transcript: ENSMUST00000162411
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176004
SMART Domains Protein: ENSMUSP00000135153
Gene: ENSMUSG00000026565

DomainStartEndE-ValueType
low complexity region 3 41 N/A INTRINSIC
low complexity region 149 159 N/A INTRINSIC
low complexity region 162 179 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176942
SMART Domains Protein: ENSMUSP00000135052
Gene: ENSMUSG00000026565

DomainStartEndE-ValueType
low complexity region 65 94 N/A INTRINSIC
low complexity region 112 154 N/A INTRINSIC
low complexity region 171 186 N/A INTRINSIC
low complexity region 205 226 N/A INTRINSIC
low complexity region 233 251 N/A INTRINSIC
POU 275 349 1.55e-52 SMART
low complexity region 350 366 N/A INTRINSIC
HOX 376 438 2.54e-19 SMART
low complexity region 456 482 N/A INTRINSIC
low complexity region 487 554 N/A INTRINSIC
low complexity region 563 601 N/A INTRINSIC
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: 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: 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: ENSMUST00000184799
Predicted Effect probably benign
Transcript: ENSMUST00000194366
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency 97% (60/62)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310016G11Rik A G 7: 44,326,620 (GRCm39) noncoding transcript Het
Abcc5 T A 16: 20,197,411 (GRCm39) K647* probably null Het
Aplp1 A G 7: 30,135,241 (GRCm39) probably benign Het
Arhgef25 A G 10: 127,025,423 (GRCm39) I43T probably benign Het
Brinp3 T G 1: 146,777,189 (GRCm39) S545R probably benign Het
Btnl1 A G 17: 34,598,468 (GRCm39) E28G probably benign Het
C5ar2 A G 7: 15,971,601 (GRCm39) F109L probably benign Het
D630045J12Rik G A 6: 38,160,902 (GRCm39) Q1081* probably null Het
Dhx36 T C 3: 62,385,016 (GRCm39) I699V possibly damaging Het
Dnah9 A G 11: 65,860,805 (GRCm39) I2855T probably benign Het
Dock8 T C 19: 25,140,411 (GRCm39) I1317T probably benign Het
Galnt11 A T 5: 25,453,855 (GRCm39) D27V probably damaging Het
Gm5134 T A 10: 75,829,718 (GRCm39) C335S probably damaging Het
Hdhd2 A T 18: 77,058,311 (GRCm39) K227N probably damaging Het
Impg1 A T 9: 80,317,479 (GRCm39) L36Q probably damaging Het
Krtcap3 A G 5: 31,410,303 (GRCm39) H227R probably benign Het
Lrrc7 A G 3: 157,866,298 (GRCm39) Y1148H probably damaging Het
Map2k4 A G 11: 65,603,110 (GRCm39) I174T probably damaging Het
Mef2c C A 13: 83,804,359 (GRCm39) L282M probably damaging Het
Nkapd1 A C 9: 50,521,725 (GRCm39) D65E probably damaging Het
Nqo2 T C 13: 34,165,490 (GRCm39) I129T probably benign Het
Pdgfrb T A 18: 61,197,998 (GRCm39) probably benign Het
Phf7 C T 14: 30,960,443 (GRCm39) probably benign Het
Plac8 T A 5: 100,704,434 (GRCm39) T88S probably benign Het
Ptprk T A 10: 28,468,891 (GRCm39) V1425E probably damaging Het
Saal1 A T 7: 46,342,316 (GRCm39) S376T probably damaging Het
Scart2 G A 7: 139,876,310 (GRCm39) R594H probably benign Het
Serpini1 T C 3: 75,526,620 (GRCm39) Y291H probably damaging Het
Siah2 T C 3: 58,583,713 (GRCm39) H191R probably benign Het
Spaca6 T A 17: 18,058,498 (GRCm39) Y39* probably null Het
Tbc1d10a T C 11: 4,163,680 (GRCm39) C277R probably damaging Het
Trim45 A T 3: 100,832,736 (GRCm39) D323V probably damaging Het
Trim55 A C 3: 19,698,866 (GRCm39) M32L probably benign Het
Unc5b T C 10: 60,614,698 (GRCm39) T200A probably benign Het
Uqcc4 A G 17: 25,403,957 (GRCm39) E99G possibly damaging Het
V1rd19 A T 7: 23,703,029 (GRCm39) D165V probably 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
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
R9151:Pou2f1 UTSW 1 165,703,640 (GRCm39) intron probably benign
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'- TAGTGAGGAAAGCCTGTGGCAACC -3'
(R):5'- TCAGTACAGCATCACAGTGGAGGG -3'

Sequencing Primer
(F):5'- AGCTCACTGTGCCTTGGAG -3'
(R):5'- TCACAGTGGAGGGGAGAGTC -3'
Posted On 2014-08-08