Incidental Mutation 'IGL03177:Pum3'
ID412051
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: 0.957) question?
Stock #IGL03177
Quality Score
Status
Chromosome19
Chromosomal Location27388702-27429820 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 27390212 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 639 (I639N)
Ref Sequence ENSEMBL: ENSMUSP00000075573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076219]
Predicted Effect probably benign
Transcript: ENSMUST00000076219
AA Change: I639N

PolyPhen 2 Score 0.291 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000075573
Gene: ENSMUSG00000041360
AA Change: I639N

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg2 T C X: 160,438,263 I23T possibly damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Anxa7 T C 14: 20,456,586 I451V probably benign Het
Capn10 T C 1: 92,934,982 F37L probably benign Het
Cyp4f13 A G 17: 32,946,914 I30T possibly damaging Het
Ddx27 A G 2: 167,027,920 N392D possibly damaging Het
Dhx30 T C 9: 110,088,010 H479R possibly damaging Het
Dnah5 A G 15: 28,295,399 Y1426C probably damaging Het
Dnajc2 A G 5: 21,775,081 probably benign Het
Fbxw8 C A 5: 118,128,980 probably benign Het
Grik5 G A 7: 25,015,454 T705I probably damaging Het
H2-M3 G T 17: 37,270,316 V19F possibly damaging Het
Hapln2 C A 3: 88,022,771 C266F probably damaging Het
Hist1h2ab T A 13: 23,751,526 probably benign Het
Hspbp1 A T 7: 4,664,701 probably null Het
Jak3 T A 8: 71,682,370 V549D probably damaging Het
Mark1 A G 1: 184,944,907 S49P probably damaging Het
Mdfic T C 6: 15,770,451 V152A probably damaging Het
Mgat4a C A 1: 37,444,887 V501L probably damaging Het
Mlxip C A 5: 123,445,981 P536T possibly damaging Het
Mrpl2 A T 17: 46,649,037 T213S probably damaging Het
Nos1ap C A 1: 170,390,730 probably null Het
Olfr1247 C T 2: 89,609,482 V207I probably benign Het
Olfr786 T C 10: 129,436,815 M1T probably null Het
Olfr914 T A 9: 38,606,571 Y35* probably null Het
P2rx2 T C 5: 110,341,613 I251V probably damaging Het
Parva T A 7: 112,572,933 probably benign Het
Phf10 G A 17: 14,946,231 T459I probably damaging Het
Prg4 T A 1: 150,455,603 probably benign Het
Rlf T A 4: 121,148,079 K1235* probably null Het
Ryr3 T A 2: 113,028,671 I46F probably benign Het
Sall3 A G 18: 80,972,968 S582P probably benign Het
Scn3b A C 9: 40,270,042 Y17S probably benign Het
Senp8 A G 9: 59,737,328 C169R probably damaging Het
Sgsm1 C T 5: 113,250,993 A1025T probably damaging Het
Six1 T C 12: 73,043,740 E217G possibly damaging Het
Slc38a8 T C 8: 119,485,512 D364G probably damaging Het
Stk10 A T 11: 32,614,592 E801V probably damaging Het
Ston2 A T 12: 91,647,657 I659N probably damaging Het
Stxbp4 T C 11: 90,571,753 Q331R probably benign Het
Synpo2 A T 3: 123,121,215 V54E probably damaging Het
Tax1bp1 A G 6: 52,736,947 D237G possibly damaging Het
Tmigd1 T C 11: 76,906,948 Y39H probably benign Het
Vmn1r15 A G 6: 57,258,473 T109A probably benign Het
Vmn1r209 T C 13: 22,805,854 Y222C possibly damaging Het
Zfp809 A G 9: 22,235,051 D12G probably damaging Het
Other mutations in Pum3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00795:Pum3 APN 19 27422358 missense probably damaging 0.96
IGL02368:Pum3 APN 19 27425957 missense probably benign 0.00
IGL03036:Pum3 APN 19 27421313 missense probably damaging 0.96
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
R8300:Pum3 UTSW 19 27422373 missense probably benign 0.03
X0009:Pum3 UTSW 19 27422702 nonsense probably null
X0063:Pum3 UTSW 19 27425794 critical splice donor site probably null
Posted On2016-08-02