Incidental Mutation 'R6216:Pou2f1'
ID 503690
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 044349-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6216 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 165692723-165830247 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to T at 165707889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000027850] [ENSMUST00000069609] [ENSMUST00000111426] [ENSMUST00000111427] [ENSMUST00000111429] [ENSMUST00000159212] [ENSMUST00000160260] [ENSMUST00000160908] [ENSMUST00000184643]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000027850
AA Change: Q511K
SMART Domains Protein: ENSMUSP00000027850
Gene: ENSMUSG00000026565
AA Change: Q511K

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 unknown
Transcript: ENSMUST00000069609
AA Change: Q563K
SMART Domains Protein: ENSMUSP00000064000
Gene: ENSMUSG00000026565
AA Change: Q563K

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 unknown
Transcript: ENSMUST00000111426
AA Change: Q587K
SMART Domains Protein: ENSMUSP00000107055
Gene: ENSMUSG00000026565
AA Change: Q587K

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 unknown
Transcript: ENSMUST00000111427
AA Change: Q587K
SMART Domains Protein: ENSMUSP00000107056
Gene: ENSMUSG00000026565
AA Change: Q587K

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 unknown
Transcript: ENSMUST00000111429
AA Change: Q551K
SMART Domains Protein: ENSMUSP00000107057
Gene: ENSMUSG00000026565
AA Change: Q551K

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 unknown
Transcript: ENSMUST00000159212
AA Change: Q458K
SMART Domains Protein: ENSMUSP00000125371
Gene: ENSMUSG00000026565
AA Change: Q458K

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 unknown
Transcript: ENSMUST00000160260
AA Change: Q598K
SMART Domains Protein: ENSMUSP00000124738
Gene: ENSMUSG00000026565
AA Change: Q598K

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 unknown
Transcript: ENSMUST00000160908
AA Change: Q574K
SMART Domains Protein: ENSMUSP00000125444
Gene: ENSMUSG00000026565
AA Change: Q574K

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 unknown
Transcript: ENSMUST00000184643
AA Change: Q551K
SMART Domains Protein: ENSMUSP00000138962
Gene: ENSMUSG00000026565
AA Change: Q551K

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 probably benign
Transcript: ENSMUST00000184799
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 probably benign
Transcript: ENSMUST00000194366
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 97% (67/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,164,910 (GRCm39) D488G probably benign Het
Adgrv1 C A 13: 81,672,590 (GRCm39) probably null Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alkbh3 G A 2: 93,838,881 (GRCm39) probably benign Het
Ankrd22 A T 19: 34,101,569 (GRCm39) probably null Het
Anks1b A G 10: 90,096,618 (GRCm39) D425G probably damaging Het
Arid2 A G 15: 96,254,790 (GRCm39) D212G probably benign Het
Bbx A T 16: 50,071,751 (GRCm39) S225T probably benign Het
Bivm T A 1: 44,166,028 (GRCm39) probably null Het
Bpifb3 A G 2: 153,767,773 (GRCm39) Y282C probably benign Het
Cacna1h A T 17: 25,597,793 (GRCm39) I1767N probably damaging Het
Ccdc28a G T 10: 18,100,719 (GRCm39) S36* probably null Het
Ccser2 A G 14: 36,662,465 (GRCm39) S240P probably damaging Het
Ceacam1 A T 7: 25,171,421 (GRCm39) S348T probably benign Het
Ddx49 C T 8: 70,749,934 (GRCm39) G161D probably damaging Het
Dhx16 A G 17: 36,193,864 (GRCm39) E353G possibly damaging Het
Dnaaf6rt A T 1: 31,262,432 (GRCm39) D138V probably damaging Het
Etv2 A G 7: 30,334,036 (GRCm39) probably null Het
Extl1 T C 4: 134,090,441 (GRCm39) T345A probably benign Het
Fam163a A T 1: 155,954,741 (GRCm39) S137T probably benign Het
Fermt2 A T 14: 45,697,338 (GRCm39) M671K possibly damaging Het
Fsd1l T C 4: 53,694,742 (GRCm39) C388R probably damaging Het
Galnt18 A C 7: 111,112,757 (GRCm39) V470G probably benign Het
Grin2b T A 6: 135,749,397 (GRCm39) I602F probably damaging Het
Gucy1b1 G T 3: 81,954,020 (GRCm39) probably null Het
Hace1 T C 10: 45,494,643 (GRCm39) V151A probably benign Het
Hadhb T A 5: 30,379,929 (GRCm39) D258E probably benign Het
Heatr1 C T 13: 12,447,545 (GRCm39) T1746I probably benign Het
Hrnr T C 3: 93,239,469 (GRCm39) S3236P unknown Het
Kcnd1 G C X: 7,690,148 (GRCm39) A23P probably damaging Homo
Kiz C A 2: 146,731,417 (GRCm39) D302E probably damaging Het
Kng2 A T 16: 22,806,343 (GRCm39) W619R probably damaging Het
Mfap3l C A 8: 61,124,841 (GRCm39) T361K probably damaging Het
Mlec T C 5: 115,288,376 (GRCm39) H160R probably benign Het
Myo16 T C 8: 10,365,494 (GRCm39) L89P probably benign Het
Neb T C 2: 52,114,564 (GRCm39) I4232V probably benign Het
Nf1 A G 11: 79,302,433 (GRCm39) I334V possibly damaging Het
Nipbl A C 15: 8,347,867 (GRCm39) F1942V probably damaging Het
Or2ag17 A T 7: 106,389,665 (GRCm39) I181N probably benign Het
Or4a70 C A 2: 89,324,066 (GRCm39) V197F probably damaging Het
Or4c11c T C 2: 88,661,655 (GRCm39) S65P probably damaging Het
Or51a10 A G 7: 103,698,902 (GRCm39) Y220H probably damaging Het
Pabpc2 G T 18: 39,907,772 (GRCm39) A346S probably damaging Het
Paxip1 T C 5: 27,971,171 (GRCm39) T393A unknown Het
Pcdhgb5 A T 18: 37,864,981 (GRCm39) T259S probably benign Het
Pfkp A T 13: 6,669,224 (GRCm39) L253H probably benign Het
Piezo1 T C 8: 123,215,869 (GRCm39) D1428G probably benign Het
Pkd1l2 T G 8: 117,808,209 (GRCm39) D105A probably damaging Het
Ppfia4 T C 1: 134,256,921 (GRCm39) E100G probably damaging Het
Ppp1r15a G T 7: 45,173,446 (GRCm39) T454K probably damaging Het
Prpsap1 A T 11: 116,362,239 (GRCm39) I381N probably damaging Het
Ptx3 T A 3: 66,132,265 (GRCm39) V262E probably damaging Het
Rab21 A T 10: 115,130,831 (GRCm39) H158Q probably benign Het
Rasa2 A G 9: 96,426,357 (GRCm39) S830P probably damaging Het
Rdh1 G A 10: 127,600,622 (GRCm39) S215N probably benign Het
Rhot1 G A 11: 80,141,885 (GRCm39) R463H probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Sart3 C T 5: 113,881,267 (GRCm39) A938T probably benign Het
Selenom A T 11: 3,464,915 (GRCm39) probably benign Het
Selenop T C 15: 3,308,947 (GRCm39) C300R probably damaging Het
Skint1 T A 4: 111,878,679 (GRCm39) S204T probably benign Het
Ss18l1 A G 2: 179,703,706 (GRCm39) N313S unknown Het
Sycp2l A G 13: 41,295,200 (GRCm39) D289G probably damaging Het
Terf1 C T 1: 15,889,221 (GRCm39) H188Y probably benign Het
Tmem116 C T 5: 121,629,171 (GRCm39) T188M probably benign Het
Trdn A G 10: 33,181,065 (GRCm39) T357A probably damaging Het
Trip11 A C 12: 101,856,859 (GRCm39) M401R probably benign Het
Ubald2 A C 11: 116,325,211 (GRCm39) D26A probably benign Het
Ube2w C G 1: 16,689,508 (GRCm39) probably benign Het
Vmn2r101 T A 17: 19,811,267 (GRCm39) S450R probably benign 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
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'- CTTACCCAGCAGCAAACTGTG -3'
(R):5'- TCCAAACCCATTTACAGGAGG -3'

Sequencing Primer
(F):5'- CAAACTGTGAGGGTGCCATG -3'
(R):5'- GGAGGCCATCTTCTAACTCAG -3'
Posted On 2018-02-27