Incidental Mutation 'IGL01700:Pou3f1'
ID104449
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 #IGL01700
Quality Score
Status
Chromosome4
Chromosomal Location124656807-124660655 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 124658857 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Leucine at position 384 (W384L)
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: W384L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137374
Gene: ENSMUSG00000090125
AA Change: W384L

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,280,390 M1778L probably benign Het
Aldh6a1 C T 12: 84,439,538 C202Y probably damaging Het
Ankrd36 A G 11: 5,632,198 T276A probably benign Het
Ankrd55 T C 13: 112,381,168 I556T probably benign Het
Aqp4 A G 18: 15,399,865 I57T probably benign Het
Atp1a1 T C 3: 101,594,258 D43G possibly damaging Het
Cyld G A 8: 88,707,099 R172H probably damaging Het
Diexf G A 1: 193,118,265 P416S probably damaging Het
Ear2 A T 14: 44,103,259 R125* probably null Het
Efcab9 T C 11: 32,527,451 R24G probably damaging Het
F7 C A 8: 13,028,685 Q39K probably benign Het
Galntl6 A T 8: 57,958,460 probably benign Het
Kcnj5 A G 9: 32,322,629 V130A probably damaging Het
Magee2 A G X: 104,855,968 I359T possibly damaging Het
Myh1 T G 11: 67,211,412 I843S probably damaging Het
Nfat5 T A 8: 107,339,130 M98K probably damaging Het
Nrip3 T A 7: 109,761,867 N200I possibly damaging Het
Olfr818 A T 10: 129,945,941 N40K probably damaging Het
Phkb A T 8: 86,017,465 Q581L probably benign Het
Plxdc2 T C 2: 16,512,115 V69A probably benign Het
Prrc2a G A 17: 35,150,667 S1890L possibly damaging Het
Psmc1 C A 12: 100,113,078 P27H probably damaging Het
Pvr C A 7: 19,909,232 A359S probably benign Het
Rasal1 A T 5: 120,676,817 I711F probably benign Het
Ror1 C T 4: 100,409,771 A223V probably damaging Het
Slc22a16 A T 10: 40,603,908 I638L unknown Het
Slfn10-ps C T 11: 83,029,112 noncoding transcript Het
Sptbn4 A G 7: 27,404,268 L1176P probably damaging Het
Usp21 A T 1: 171,283,402 F421I probably damaging Het
Vmn1r61 T A 7: 5,611,203 R37S possibly damaging Het
Vps13a G A 19: 16,744,857 R364* probably null Het
Vps29 A G 5: 122,362,867 Y165C probably damaging Het
Wdfy4 T C 14: 33,020,238 probably benign Het
Wdr24 A G 17: 25,825,828 D219G probably damaging Het
Xpo1 T C 11: 23,276,422 probably benign Het
Zfp831 C A 2: 174,644,918 T462K possibly damaging Het
Zswim5 T C 4: 116,986,461 probably benign Het
Other mutations in Pou3f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02981:Pou3f1 APN 4 124658443 missense probably damaging 0.99
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
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 On2014-01-21