Incidental Mutation 'IGL00795:Pum3'
ID12567
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pum3
Ensembl Gene ENSMUSG00000041360
Gene Namepumilio RNA-binding family member 3
Synonyms1110069H02Rik, D19Bwg1357e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.955) question?
Stock #IGL00795
Quality Score
Status
Chromosome19
Chromosomal Location27388702-27429820 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 27422358 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 225 (Y225F)
Ref Sequence ENSEMBL: ENSMUSP00000075573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076219]
Predicted Effect probably damaging
Transcript: ENSMUST00000076219
AA Change: Y225F

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000075573
Gene: ENSMUSG00000041360
AA Change: Y225F

DomainStartEndE-ValueType
low complexity region 106 121 N/A INTRINSIC
Pumilio 165 200 1.8e-3 SMART
Pumilio 201 236 1.36e-3 SMART
Pumilio 237 273 3.72e0 SMART
Pumilio 350 385 2.54e-3 SMART
Pumilio 386 422 7.89e0 SMART
Pumilio 424 460 5.5e0 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the evolutionarily conserved Pumilio and Fem-3 mRNA-binding factor family of proteins, which are characterized by tandem 36 amino acid pumilio homolog domains and which function in diverse biological processes. This protein belongs to a group of atypical Pumilio and Fem-3 mRNA-binding factor proteins, whose members are distinguished from other Pumilio and Fem-3 mRNA-binding factor proteins by a novel protein fold with 11 pumilio homolog domains and an ability to bind to DNA and single- and double-stranded RNA without sequence specificity. In mouse, lower levels of gene expression have been correlated with increased testicular germ cell tumors. A pseudogene of this gene is found on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031410I06Rik T C 5: 26,104,155 R50G probably damaging Het
Ap1m1 A G 8: 72,253,509 N308S probably damaging Het
Bub1 A G 2: 127,821,815 V222A probably benign Het
Ccdc91 G T 6: 147,507,807 D4Y probably damaging Het
Defb21 A G 2: 152,574,745 D47G probably benign Het
Dnah17 C A 11: 118,093,634 C1607F probably benign Het
Fam126b C T 1: 58,552,179 E102K probably damaging Het
Insc T C 7: 114,842,154 L401P probably damaging Het
Kif18a A T 2: 109,293,020 N213I probably damaging Het
Mapre1 A G 2: 153,746,314 D19G probably damaging Het
Mettl8 A T 2: 70,982,090 I32N probably damaging Het
Mroh9 T A 1: 163,060,622 T295S probably damaging Het
Tas2r131 G A 6: 132,957,591 T85I possibly damaging Het
Tbcd T G 11: 121,616,932 I1193S probably benign Het
Tgoln1 C T 6: 72,616,252 A82T probably benign Het
Other mutations in Pum3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02368:Pum3 APN 19 27425957 missense probably benign 0.00
IGL03036:Pum3 APN 19 27421313 missense probably damaging 0.96
IGL03177:Pum3 APN 19 27390212 missense probably benign 0.29
R0242:Pum3 UTSW 19 27422755 splice site probably benign
R1480:Pum3 UTSW 19 27398910 missense probably benign 0.04
R2860:Pum3 UTSW 19 27420125 splice site probably benign
R4417:Pum3 UTSW 19 27422716 missense probably damaging 0.99
R4576:Pum3 UTSW 19 27415908 missense probably benign 0.32
R5145:Pum3 UTSW 19 27399769 missense probably damaging 1.00
R5439:Pum3 UTSW 19 27412259 missense probably benign 0.27
R5473:Pum3 UTSW 19 27418848 missense probably damaging 0.99
R5733:Pum3 UTSW 19 27421295 critical splice donor site probably null
R5964:Pum3 UTSW 19 27420051 missense probably damaging 0.96
R6516:Pum3 UTSW 19 27426008 missense probably benign
R7184:Pum3 UTSW 19 27426012 missense probably benign 0.03
R7216:Pum3 UTSW 19 27424225 missense probably damaging 1.00
R7376:Pum3 UTSW 19 27394328 missense probably benign 0.00
R7390:Pum3 UTSW 19 27424242 missense probably benign 0.11
R7761:Pum3 UTSW 19 27427092 missense probably benign
R7881:Pum3 UTSW 19 27396328 nonsense probably null
R7964:Pum3 UTSW 19 27396328 nonsense probably null
X0009:Pum3 UTSW 19 27422702 nonsense probably null
X0063:Pum3 UTSW 19 27425794 critical splice donor site probably null
Posted On2012-12-06