Incidental Mutation 'IGL03036:Pum3'
ID408681
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: 0.961) question?
Stock #IGL03036
Quality Score
Status
Chromosome19
Chromosomal Location27388702-27429820 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 27421313 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 279 (T279M)
Ref Sequence ENSEMBL: ENSMUSP00000075573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076219]
Predicted Effect probably damaging
Transcript: ENSMUST00000076219
AA Change: T279M

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000075573
Gene: ENSMUSG00000041360
AA Change: T279M

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17a A T 10: 80,585,700 Y145* probably null Het
Afdn T G 17: 13,888,088 I1291S probably benign Het
Arfgap3 T G 15: 83,306,926 I16L possibly damaging Het
Bbs12 T A 3: 37,319,194 H45Q possibly damaging Het
Brpf3 T C 17: 28,824,048 L1021P possibly damaging Het
Cep170 A G 1: 176,769,337 S485P possibly damaging Het
Cgref1 A T 5: 30,933,593 N292K probably damaging Het
Chst3 A T 10: 60,186,439 Y195* probably null Het
Clmn T C 12: 104,774,523 Y125C probably damaging Het
Col13a1 A G 10: 61,893,913 probably null Het
Cpeb3 A T 19: 37,024,948 I688N probably damaging Het
Cpn2 A T 16: 30,260,829 L18H probably benign Het
Crybg3 T A 16: 59,555,179 H1904L possibly damaging Het
Csde1 C T 3: 103,043,839 P249S probably damaging Het
Dcaf1 T C 9: 106,844,140 L377P probably damaging Het
Dmwd A T 7: 19,081,129 K568M probably damaging Het
Dsg2 T C 18: 20,579,077 I90T probably damaging Het
Dytn A G 1: 63,641,122 I426T probably damaging Het
Edc4 G A 8: 105,887,311 probably null Het
Elac1 G T 18: 73,738,914 Q337K probably benign Het
Exd2 G T 12: 80,489,411 A272S probably damaging Het
F13b A G 1: 139,508,115 I220V possibly damaging Het
Fblim1 G T 4: 141,583,124 R276S possibly damaging Het
Fn1 A C 1: 71,629,773 L671R probably damaging Het
Frem1 A T 4: 82,959,339 F1334I possibly damaging Het
Gm6614 T G 6: 142,008,607 I47L possibly damaging Het
H2-T23 T A 17: 36,032,357 I43F possibly damaging Het
Hp1bp3 G A 4: 138,228,732 G202D probably damaging Het
Kdm5b A G 1: 134,608,937 M632V probably damaging Het
Klra5 T A 6: 129,908,867 S20C probably damaging Het
Lancl1 A T 1: 67,006,915 C276S probably damaging Het
Lect2 A G 13: 56,542,707 *152Q probably null Het
Maff C A 15: 79,357,458 S25* probably null Het
Mtr A G 13: 12,247,377 L171P probably damaging Het
Ndufs1 A T 1: 63,163,696 Y236* probably null Het
Neb A C 2: 52,244,153 Y3273D probably damaging Het
Nup133 A T 8: 123,946,594 I66K probably benign Het
Olfr1215 T C 2: 89,002,115 M58V possibly damaging Het
Psmd14 A G 2: 61,783,861 Y200C probably damaging Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Ptk2b T A 14: 66,173,895 probably benign Het
Rabl6 C T 2: 25,584,856 G614D probably benign Het
Ripk3 T C 14: 55,787,339 D128G probably benign Het
Serinc4 A T 2: 121,439,558 probably benign Het
Sorbs2 T C 8: 45,782,865 S322P probably benign Het
Srebf1 A T 11: 60,220,458 I29N possibly damaging Het
Stk38l T C 6: 146,768,874 L238S probably damaging Het
Supt20 T A 3: 54,709,302 C298* probably null Het
Tbc1d19 A G 5: 53,897,047 D459G probably damaging Het
Thegl A C 5: 77,016,350 K67Q possibly damaging Het
Ulk2 A T 11: 61,834,834 L139M probably damaging Het
Unc13b A G 4: 43,235,249 N3279S probably damaging Het
Ush2a A G 1: 188,864,621 R3853G possibly damaging Het
Usp7 C T 16: 8,738,214 M24I probably benign Het
Vil1 A G 1: 74,419,612 T131A probably damaging Het
Vmn2r2 C T 3: 64,116,900 M753I probably benign Het
Vmn2r74 A T 7: 85,952,692 Y579* probably null Het
Zdhhc3 A T 9: 123,100,517 Y18N probably damaging Het
Zfp609 C T 9: 65,702,645 S1012N possibly damaging Het
Zfr2 A T 10: 81,242,151 M271L probably benign 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
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
R7991:Pum3 UTSW 19 27412220 missense possibly damaging 0.93
R8300:Pum3 UTSW 19 27422373 missense probably benign 0.03
R8790:Pum3 UTSW 19 27416799 missense probably damaging 1.00
R8847:Pum3 UTSW 19 27421313 missense probably damaging 0.96
R8903:Pum3 UTSW 19 27420057 missense possibly damaging 0.48
X0009:Pum3 UTSW 19 27422702 nonsense probably null
X0063:Pum3 UTSW 19 27425794 critical splice donor site probably null
Posted On2016-08-02