Incidental Mutation 'R6971:Pou2f1'
ID 542232
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 045081-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6971 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 165692723-165830247 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 165759258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 23 (S23P)
Ref Sequence ENSEMBL: ENSMUSP00000107055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027850] [ENSMUST00000069609] [ENSMUST00000111426] [ENSMUST00000111427] [ENSMUST00000111429] [ENSMUST00000160260] [ENSMUST00000160908] [ENSMUST00000176800] [ENSMUST00000177358] [ENSMUST00000184643]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000027850
AA Change: S34P
SMART Domains Protein: ENSMUSP00000027850
Gene: ENSMUSG00000026565
AA Change: S34P

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: S23P
SMART Domains Protein: ENSMUSP00000064000
Gene: ENSMUSG00000026565
AA Change: S23P

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 damaging
Transcript: ENSMUST00000111426
AA Change: S23P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107055
Gene: ENSMUSG00000026565
AA Change: S23P

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: S23P
SMART Domains Protein: ENSMUSP00000107056
Gene: ENSMUSG00000026565
AA Change: S23P

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: S11P
SMART Domains Protein: ENSMUSP00000107057
Gene: ENSMUSG00000026565
AA Change: S11P

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: ENSMUST00000160260
AA Change: S34P
SMART Domains Protein: ENSMUSP00000124738
Gene: ENSMUSG00000026565
AA Change: S34P

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: S34P
SMART Domains Protein: ENSMUSP00000125444
Gene: ENSMUSG00000026565
AA Change: S34P

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: ENSMUST00000176800
Predicted Effect unknown
Transcript: ENSMUST00000177358
AA Change: S11P
SMART Domains Protein: ENSMUSP00000135565
Gene: ENSMUSG00000026565
AA Change: S11P

DomainStartEndE-ValueType
low complexity region 71 100 N/A INTRINSIC
low complexity region 118 160 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000184643
AA Change: S11P
SMART Domains Protein: ENSMUSP00000138962
Gene: ENSMUSG00000026565
AA Change: S11P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.1%
Validation Efficiency 96% (47/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,000,903 (GRCm39) T32S possibly damaging Het
2210408I21Rik A G 13: 77,341,306 (GRCm39) S52G possibly damaging Het
Aadacl4 G A 4: 144,349,303 (GRCm39) V187M probably damaging Het
Adprhl1 T A 8: 13,273,476 (GRCm39) Q1094L probably benign Het
Amigo1 C T 3: 108,095,452 (GRCm39) S317L probably benign Het
Brca1 A G 11: 101,424,831 (GRCm39) F32L probably benign Het
C1qtnf7 T A 5: 43,766,392 (GRCm39) probably null Het
Ccdc88c A T 12: 100,920,486 (GRCm39) D378E probably damaging Het
Ccdc97 G T 7: 25,414,384 (GRCm39) Y123* probably null Het
Cdk10 T A 8: 123,954,413 (GRCm39) M46K probably damaging Het
Dsc3 A G 18: 20,099,275 (GRCm39) probably null Het
Ephx3 T A 17: 32,407,177 (GRCm39) N254Y possibly damaging Het
Fnip2 G A 3: 79,388,428 (GRCm39) R768* probably null Het
Glra1 A T 11: 55,427,325 (GRCm39) Y3* probably null Het
Gltpd2 A G 11: 70,411,290 (GRCm39) T194A probably damaging Het
Hectd1 A T 12: 51,795,526 (GRCm39) L2301* probably null Het
Hmcn1 T A 1: 150,868,802 (GRCm39) M1L probably benign Het
Hmcn2 G A 2: 31,322,333 (GRCm39) E4133K probably benign Het
Hps3 A T 3: 20,065,699 (GRCm39) L714I probably damaging Het
Igfbpl1 A G 4: 45,816,333 (GRCm39) V164A possibly damaging Het
Ip6k2 T C 9: 108,674,510 (GRCm39) probably benign Het
Itgb8 A T 12: 119,154,366 (GRCm39) Y224N probably damaging Het
Kcnt2 T C 1: 140,440,646 (GRCm39) L624S probably benign Het
Mdga2 A G 12: 66,597,335 (GRCm39) Y720H probably damaging Het
Mier2 G A 10: 79,378,263 (GRCm39) H385Y possibly damaging Het
Msl2 T C 9: 100,978,042 (GRCm39) F139L probably benign Het
Nuggc T C 14: 65,846,305 (GRCm39) V72A probably benign Het
Or9k2b A T 10: 130,016,638 (GRCm39) V37E possibly damaging Het
Pde2a T A 7: 101,159,520 (GRCm39) Y783* probably null Het
Pfkfb2 A G 1: 130,628,533 (GRCm39) Y358H probably damaging Het
Prrc2a T C 17: 35,378,477 (GRCm39) probably null Het
Prss36 T C 7: 127,544,410 (GRCm39) T92A probably benign Het
Rnft2 A G 5: 118,332,635 (GRCm39) probably benign Het
Sbno2 A G 10: 79,895,868 (GRCm39) V971A possibly damaging Het
Sec63 A G 10: 42,659,438 (GRCm39) E42G probably damaging Het
Setdb2 A T 14: 59,653,189 (GRCm39) L371Q probably damaging Het
Shprh A T 10: 11,042,437 (GRCm39) I807F probably damaging Het
Slc3a2 T C 19: 8,686,974 (GRCm39) probably null Het
Srbd1 T C 17: 86,406,718 (GRCm39) I556V possibly damaging Het
Stim2 T A 5: 54,275,641 (GRCm39) C605* probably null Het
Tecrl T C 5: 83,502,649 (GRCm39) T67A possibly damaging Het
Ttc33 C A 15: 5,241,523 (GRCm39) A116E probably damaging Het
Ttn G A 2: 76,772,393 (GRCm39) T2503I possibly damaging Het
Ubp1 T C 9: 113,801,831 (GRCm39) I468T probably damaging Het
Urgcp A T 11: 5,668,115 (GRCm39) H74Q probably benign Het
Vcan A G 13: 89,826,252 (GRCm39) I2224T probably damaging Het
Vmn1r8 T A 6: 57,013,400 (GRCm39) N150K probably damaging Het
Vmn2r3 A G 3: 64,166,668 (GRCm39) M821T probably damaging Het
Zfp777 C A 6: 48,001,625 (GRCm39) A866S 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
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
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'- AACTACCTCTAGTTTCTCTGATGG -3'
(R):5'- GTAGCCTGCCGTATGCTATG -3'

Sequencing Primer
(F):5'- TAGAATCTGAAAAAGGATGCACTCC -3'
(R):5'- GCATGGCCTTCTTGAAATGAACC -3'
Posted On 2018-11-28