Incidental Mutation 'IGL03117:Pou2f1'
ID 419475
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03117
Quality Score
Status
Chromosome 1
Chromosomal Location 165692723-165830247 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 165762382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 7 (C7R)
Ref Sequence ENSEMBL: ENSMUSP00000107055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027850] [ENSMUST00000069609] [ENSMUST00000111426] [ENSMUST00000111427] [ENSMUST00000111429] [ENSMUST00000160260] [ENSMUST00000176800] [ENSMUST00000177358] [ENSMUST00000184643] [ENSMUST00000160908]
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 unknown
Transcript: ENSMUST00000069609
AA Change: C7R
SMART Domains Protein: ENSMUSP00000064000
Gene: ENSMUSG00000026565
AA Change: C7R

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
AA Change: C7R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000107055
Gene: ENSMUSG00000026565
AA Change: C7R

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: C7R
SMART Domains Protein: ENSMUSP00000107056
Gene: ENSMUSG00000026565
AA Change: C7R

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: 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 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 noncoding transcript
Transcript: ENSMUST00000177472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176101
Predicted Effect probably benign
Transcript: ENSMUST00000176800
Predicted Effect probably benign
Transcript: ENSMUST00000177358
SMART Domains Protein: ENSMUSP00000135565
Gene: ENSMUSG00000026565

DomainStartEndE-ValueType
low complexity region 71 100 N/A INTRINSIC
low complexity region 118 160 N/A INTRINSIC
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: 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
Coding Region Coverage
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna2d3 A G 14: 29,189,909 (GRCm39) L109P probably damaging Het
Caprin2 A T 6: 148,763,964 (GRCm39) S568T possibly damaging Het
Catip A G 1: 74,403,744 (GRCm39) T154A probably null Het
Ccdc187 A G 2: 26,177,980 (GRCm39) S270P possibly damaging Het
Ccdc88a A G 11: 29,324,559 (GRCm39) Y39C probably damaging Het
Chrdl2 A T 7: 99,676,787 (GRCm39) H203L possibly damaging Het
Chrnb2 A G 3: 89,670,552 (GRCm39) V62A probably damaging Het
Cklf T A 8: 104,984,055 (GRCm39) S73T possibly damaging Het
Clk1 A G 1: 58,456,166 (GRCm39) probably null Het
Ctdp1 T C 18: 80,492,716 (GRCm39) D593G probably damaging Het
Ctsc A T 7: 87,958,988 (GRCm39) I423F probably damaging Het
D130043K22Rik T A 13: 25,073,825 (GRCm39) V968E probably damaging Het
Dennd4c A G 4: 86,696,140 (GRCm39) S166G possibly damaging Het
Dnah2 G T 11: 69,327,117 (GRCm39) probably benign Het
Dnajb11 G T 16: 22,687,888 (GRCm39) R206L probably benign Het
Dsel A T 1: 111,786,908 (GRCm39) probably benign Het
Ehd2 T C 7: 15,684,396 (GRCm39) S468G possibly damaging Het
Ehmt2 T A 17: 35,125,787 (GRCm39) V640E possibly damaging Het
Elmo2 T A 2: 165,140,573 (GRCm39) E299D probably benign Het
Eps8l1 T C 7: 4,473,886 (GRCm39) L231P probably damaging Het
Esd A G 14: 74,978,686 (GRCm39) T83A probably damaging Het
Flt3 A G 5: 147,293,020 (GRCm39) F529L probably benign Het
Hnrnpu G A 1: 178,158,339 (GRCm39) probably benign Het
Hpx G T 7: 105,249,278 (GRCm39) A7E possibly damaging Het
Ighv6-5 C T 12: 114,380,320 (GRCm39) V85M possibly damaging Het
Itpr3 G A 17: 27,338,240 (GRCm39) V2503I probably damaging Het
Itprid1 A G 6: 55,875,114 (GRCm39) T355A probably benign Het
Matr3 G T 18: 35,705,710 (GRCm39) G212C probably damaging Het
Mrpl35 A T 6: 71,793,263 (GRCm39) Y129* probably null Het
Myh2 T C 11: 67,071,710 (GRCm39) I509T possibly damaging Het
Nat8l G T 5: 34,158,288 (GRCm39) A233S probably damaging Het
Nipbl A C 15: 8,361,936 (GRCm39) L1447W probably damaging Het
Paf1 T A 7: 28,094,481 (GRCm39) C31S possibly damaging Het
Parp4 A C 14: 56,840,313 (GRCm39) T573P probably benign Het
Phf12 A T 11: 77,913,846 (GRCm39) probably benign Het
Pi4k2b A G 5: 52,905,765 (GRCm39) E102G probably benign Het
Prpsap2 T C 11: 61,631,815 (GRCm39) R181G probably benign Het
Psd A G 19: 46,311,561 (GRCm39) probably benign Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Rab21 A T 10: 115,151,097 (GRCm39) probably null Het
Relb T C 7: 19,346,582 (GRCm39) D330G probably damaging Het
Rhoc A T 3: 104,700,236 (GRCm39) T100S probably benign Het
Ryr1 G T 7: 28,802,389 (GRCm39) H744N probably damaging Het
Sardh C T 2: 27,129,458 (GRCm39) G280D probably damaging Het
Scyl2 A C 10: 89,493,729 (GRCm39) N346K possibly damaging Het
Sec16b T C 1: 157,362,970 (GRCm39) F267S probably damaging Het
Slc44a5 T A 3: 153,956,714 (GRCm39) M322K probably benign Het
St8sia4 T A 1: 95,519,508 (GRCm39) N327Y probably benign Het
Tbl1xr1 T A 3: 22,257,323 (GRCm39) Y395* probably null Het
Unc13c A T 9: 73,441,307 (GRCm39) S1897R probably benign Het
Vangl2 A G 1: 171,840,415 (GRCm39) S58P probably damaging Het
Vmn1r17 A G 6: 57,337,501 (GRCm39) I288T probably benign Het
Vmn1r236 A G 17: 21,507,508 (GRCm39) I209V probably benign Het
Zfp809 A G 9: 22,149,950 (GRCm39) Y149C 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
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
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
Posted On 2016-08-02