Incidental Mutation 'R8478:Pou2f1'
ID 657347
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 067922-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8478 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 165692723-165830247 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 165759287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000138962 (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: M24K
SMART Domains Protein: ENSMUSP00000027850
Gene: ENSMUSG00000026565
AA Change: M24K

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: M13K
SMART Domains Protein: ENSMUSP00000064000
Gene: ENSMUSG00000026565
AA Change: M13K

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 possibly damaging
Transcript: ENSMUST00000111426
AA Change: M13K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107055
Gene: ENSMUSG00000026565
AA Change: M13K

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: M13K
SMART Domains Protein: ENSMUSP00000107056
Gene: ENSMUSG00000026565
AA Change: M13K

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 null
Transcript: ENSMUST00000111429
AA Change: M1K
SMART Domains Protein: ENSMUSP00000107057
Gene: ENSMUSG00000026565
AA Change: M1K

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: M24K
SMART Domains Protein: ENSMUSP00000124738
Gene: ENSMUSG00000026565
AA Change: M24K

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: M24K
SMART Domains Protein: ENSMUSP00000125444
Gene: ENSMUSG00000026565
AA Change: M24K

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 null
Transcript: ENSMUST00000176800
AA Change: M1K
Predicted Effect probably null
Transcript: ENSMUST00000177358
AA Change: M1K
SMART Domains Protein: ENSMUSP00000135565
Gene: ENSMUSG00000026565
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 71 100 N/A INTRINSIC
low complexity region 118 160 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000184643
AA Change: M1K
SMART Domains Protein: ENSMUSP00000138962
Gene: ENSMUSG00000026565
AA Change: M1K

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (66/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 A T 9: 107,805,844 (GRCm39) I56F possibly damaging Het
Adgrl3 G T 5: 81,942,348 (GRCm39) R1357L possibly damaging Het
Alpk1 T A 3: 127,522,961 (GRCm39) D27V probably damaging Het
Als2 T C 1: 59,225,175 (GRCm39) E986G probably damaging Het
Ankle2 T A 5: 110,400,818 (GRCm39) L717Q possibly damaging Het
Arl8b A G 6: 108,760,285 (GRCm39) T24A possibly damaging Het
Atp2a1 A G 7: 126,047,502 (GRCm39) I718T probably damaging Het
Atp6v0e2 T A 6: 48,517,031 (GRCm39) N70K probably benign Het
Bcl11a A G 11: 24,115,086 (GRCm39) S810G probably damaging Het
Bcl2a1d T G 9: 88,605,488 (GRCm39) *173S probably null Het
Bltp1 A T 3: 37,087,426 (GRCm39) D511V possibly damaging Het
Cacna1g A G 11: 94,317,278 (GRCm39) Y1494H probably damaging Het
Ccdc7a T C 8: 129,487,850 (GRCm39) K186E possibly damaging Het
Cfap43 T C 19: 47,764,515 (GRCm39) I817V probably benign Het
Chd5 C T 4: 152,441,147 (GRCm39) R196* probably null Het
Chsy1 C T 7: 65,820,748 (GRCm39) H328Y probably benign Het
Clcn3 A T 8: 61,372,522 (GRCm39) S713T probably benign Het
Csrnp3 A T 2: 65,708,400 (GRCm39) probably null Het
Dnhd1 A G 7: 105,332,001 (GRCm39) N86S probably benign Het
Epha3 T C 16: 63,593,444 (GRCm39) T215A probably damaging Het
Fgf1 T C 18: 38,987,944 (GRCm39) probably null Het
Fosl1 T C 19: 5,504,947 (GRCm39) S145P probably damaging Het
Frem3 T A 8: 81,338,187 (GRCm39) V160E probably damaging Het
Galk2 A T 2: 125,771,505 (GRCm39) K177* probably null Het
Gria1 T C 11: 57,200,668 (GRCm39) Y782H probably damaging Het
Gria4 C T 9: 4,793,882 (GRCm39) E59K probably damaging Het
Ighv1-11 A G 12: 114,575,919 (GRCm39) Y99H possibly damaging Het
Insm2 A T 12: 55,647,330 (GRCm39) Y358F probably damaging Het
Marveld3 C T 8: 110,688,600 (GRCm39) G47D probably damaging Het
Mthfd1l A G 10: 4,098,064 (GRCm39) D967G probably damaging Het
Nav2 G T 7: 49,111,733 (GRCm39) M746I probably damaging Het
Niban1 C A 1: 151,512,263 (GRCm39) T55K possibly damaging Het
Nmnat1 A G 4: 149,557,841 (GRCm39) I67T possibly damaging Het
Nub1 G T 5: 24,906,422 (GRCm39) R316L probably benign Het
Nxn A G 11: 76,164,869 (GRCm39) V214A probably damaging Het
Or52n5 C A 7: 104,588,477 (GRCm39) S248Y probably benign Het
Pelp1 A T 11: 70,285,146 (GRCm39) D907E unknown Het
Pik3c2a A T 7: 116,017,584 (GRCm39) S58T probably damaging Het
Pik3ca A G 3: 32,505,997 (GRCm39) N703S probably benign Het
Polr3c G A 3: 96,624,066 (GRCm39) probably benign Het
Pon1 C T 6: 5,185,318 (GRCm39) G61R probably damaging Het
Prkdc T A 16: 15,466,788 (GRCm39) C90S probably benign Het
Prokr1 A G 6: 87,558,330 (GRCm39) Y352H probably benign Het
Rhod C T 19: 4,476,719 (GRCm39) R134H probably damaging Het
Rufy3 C T 5: 88,762,895 (GRCm39) R110W probably damaging Het
Sema4c A T 1: 36,590,871 (GRCm39) M460K probably benign Het
Slc46a3 T C 5: 147,815,963 (GRCm39) S455G probably benign Het
Smyd1 A T 6: 71,193,811 (GRCm39) H371Q probably damaging Het
Steap1 A G 5: 5,786,432 (GRCm39) M335T probably benign Het
Suox A G 10: 128,506,921 (GRCm39) V369A probably damaging Het
Thbs2 T C 17: 14,900,666 (GRCm39) I514V probably benign Het
Tie1 A T 4: 118,341,979 (GRCm39) probably null Het
Tmem131l T C 3: 83,805,769 (GRCm39) E1558G probably damaging Het
Tpcn1 G T 5: 120,698,386 (GRCm39) H45Q probably benign Het
Ush1c A G 7: 45,870,857 (GRCm39) S327P probably damaging Het
Ush2a G A 1: 188,175,429 (GRCm39) V1176M possibly damaging Het
Utrn A G 10: 12,524,892 (GRCm39) M2197T probably benign Het
Vmn1r50 G T 6: 90,085,071 (GRCm39) C272F probably benign Het
Vmn2r10 A T 5: 109,143,636 (GRCm39) N771K probably damaging Het
Vmn2r2 A T 3: 64,024,257 (GRCm39) F691I possibly damaging Het
Vmn2r53 T C 7: 12,340,281 (GRCm39) Q64R probably benign Het
Vmn2r95 G T 17: 18,672,544 (GRCm39) L760F probably damaging Het
Wdr97 T C 15: 76,247,629 (GRCm39) probably null Het
Xdh C A 17: 74,213,053 (GRCm39) E863D probably benign Het
Ykt6 A G 11: 5,912,407 (GRCm39) Y120C possibly damaging Het
Zranb2 A G 3: 157,251,745 (GRCm39) *321W probably null 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
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'- TGCAGTCCCTACAAGTACTACATC -3'
(R):5'- ACTCCTGAATATTTGTCAGGTAACC -3'

Sequencing Primer
(F):5'- TCCCTACAAGTACTACATCATACTTC -3'
(R):5'- GTCAGGTAACCTTTTTACTCAATTTG -3'
Posted On 2021-01-18