Incidental Mutation 'IGL02981:Pou3f1'
ID406544
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pou3f1
Ensembl Gene ENSMUSG00000090125
Gene NamePOU domain, class 3, transcription factor 1
SynonymsOct-6, Otf6, Tst1, Scip, Test1, Tst-1, Oct6
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02981
Quality Score
Status
Chromosome4
Chromosomal Location124656807-124660655 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 124658443 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 246 (D246G)
Ref Sequence ENSEMBL: ENSMUSP00000137374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053491]
PDB Structure
CRYSTAL STRUCTURE OF THE DIMERIC OCT-6 (POU3F1) POU DOMAIN BOUND TO PALINDROMIC MORE DNA [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000053491
AA Change: D246G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137374
Gene: ENSMUSG00000090125
AA Change: D246G

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
low complexity region 27 43 N/A INTRINSIC
low complexity region 75 109 N/A INTRINSIC
low complexity region 116 134 N/A INTRINSIC
low complexity region 136 148 N/A INTRINSIC
low complexity region 154 189 N/A INTRINSIC
low complexity region 202 236 N/A INTRINSIC
POU 245 319 1.26e-52 SMART
HOX 337 399 2.15e-17 SMART
low complexity region 411 447 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184062
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for targeted null mutations exhibit cyanosis and respiratory distress at birth and defective peripheral myelination due to arrested Scwann cell maturation. Mutants usually die at birth or shortly thereafter. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563D23Rik T C 16: 92,320,869 N177S probably benign Het
Abhd12 A G 2: 150,833,124 S392P probably benign Het
Adam23 G A 1: 63,570,953 V705I probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Ank2 T G 3: 126,934,562 D794A possibly damaging Het
Aqr T C 2: 114,134,824 probably benign Het
Atp9b A G 18: 80,754,289 V857A possibly damaging Het
Banp T C 8: 121,978,564 Y58H possibly damaging Het
Cacna1e T A 1: 154,471,425 N999Y probably benign Het
Cd14 T C 18: 36,726,479 probably benign Het
Crmp1 T C 5: 37,286,426 I447T probably damaging Het
Dip2a A G 10: 76,276,421 V1090A possibly damaging Het
Ep400 T A 5: 110,691,610 probably benign Het
Ep400 T A 5: 110,756,103 H210L possibly damaging Het
Fbxw26 A G 9: 109,744,794 F97L probably benign Het
Fut8 C A 12: 77,475,038 P484T probably damaging Het
Golph3 A G 15: 12,349,464 E190G probably benign Het
Hectd1 A T 12: 51,768,887 D1472E possibly damaging Het
Hnrnpdl T C 5: 100,037,099 I298V possibly damaging Het
Jakmip2 C A 18: 43,562,530 probably null Het
Kcnj5 G A 9: 32,322,581 T146I probably damaging Het
Lyst T G 13: 13,634,911 F389V probably damaging Het
Myo1b A G 1: 51,778,373 S577P probably damaging Het
Myo3b T C 2: 70,108,625 V114A probably damaging Het
Olfr714 C A 7: 107,074,551 T241N probably damaging Het
Pappa2 C T 1: 158,851,144 G901R probably benign Het
Patz1 T C 11: 3,290,656 Y15H probably damaging Het
Pdp2 T C 8: 104,593,635 W39R probably benign Het
Poc5 T C 13: 96,401,757 probably null Het
Pramel5 T A 4: 144,272,860 Y219F probably benign Het
Prrc2c C T 1: 162,705,179 probably benign Het
Ptpn13 A G 5: 103,528,804 K678E probably damaging Het
Rps2 T C 17: 24,721,724 F271L probably benign Het
Serpina3k C A 12: 104,340,991 Q161K probably benign Het
Serpinb6b A G 13: 32,971,606 T101A probably benign Het
Tprkb T A 6: 85,927,879 D112E probably benign Het
Tubal3 A G 13: 3,933,257 T346A probably benign Het
Vwde A G 6: 13,193,113 F409S possibly damaging Het
Zbtb6 G A 2: 37,429,164 Q251* probably null Het
Other mutations in Pou3f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01700:Pou3f1 APN 4 124658857 missense probably damaging 1.00
R0433:Pou3f1 UTSW 4 124658904 missense probably damaging 1.00
R4606:Pou3f1 UTSW 4 124658836 missense probably damaging 1.00
R5033:Pou3f1 UTSW 4 124658656 missense probably damaging 1.00
R7807:Pou3f1 UTSW 4 124658281 missense possibly damaging 0.85
R7891:Pou3f1 UTSW 4 124658439 missense probably damaging 0.99
R7974:Pou3f1 UTSW 4 124658439 missense probably damaging 0.99
R8008:Pou3f1 UTSW 4 124658971 missense unknown
RF016:Pou3f1 UTSW 4 124657809 small insertion probably benign
RF032:Pou3f1 UTSW 4 124657805 small insertion probably benign
RF050:Pou3f1 UTSW 4 124657804 small insertion probably benign
RF055:Pou3f1 UTSW 4 124657796 small insertion probably benign
RF060:Pou3f1 UTSW 4 124657809 small insertion probably benign
Posted On2016-08-02