Incidental Mutation 'IGL02312:Papd4'
ID287835
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Papd4
Ensembl Gene ENSMUSG00000042167
Gene NamePAP associated domain containing 4
Synonyms8030446C20Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.411) question?
Stock #IGL02312
Quality Score
Status
Chromosome13
Chromosomal Location93146282-93192385 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 93175533 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 220 (V220I)
Ref Sequence ENSEMBL: ENSMUSP00000153703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048702] [ENSMUST00000224545] [ENSMUST00000225868]
Predicted Effect probably benign
Transcript: ENSMUST00000048702
AA Change: V220I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048124
Gene: ENSMUSG00000042167
AA Change: V220I

DomainStartEndE-ValueType
low complexity region 134 147 N/A INTRINSIC
Pfam:PAP_assoc 386 440 1.5e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224545
Predicted Effect probably benign
Transcript: ENSMUST00000225868
AA Change: V220I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele reuslts in disruption in polyadenylation in oocytes and somatic cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 58,927,297 V454E probably damaging Het
Atp7b G T 8: 21,994,770 Q1424K probably damaging Het
Bicra T C 7: 15,993,141 D30G possibly damaging Het
Cdhr2 A G 13: 54,717,888 D233G probably null Het
Clint1 C T 11: 45,894,056 T294M probably damaging Het
Cntnap5c C T 17: 58,138,699 T578I probably benign Het
Col12a1 G T 9: 79,681,515 T1106N probably damaging Het
Dnah10 A G 5: 124,819,366 Y3598C probably damaging Het
Dnaja3 A G 16: 4,694,436 T235A probably benign Het
Eif2s1 T C 12: 78,880,016 I180T probably damaging Het
Ergic1 C A 17: 26,629,627 P108Q probably damaging Het
Fat2 T A 11: 55,270,259 D3215V probably damaging Het
Galnt17 A T 5: 131,306,533 I23N probably benign Het
Gm5416 A G 16: 36,210,477 probably benign Het
Gm8909 T C 17: 36,165,407 I350V probably benign Het
Gpr20 C T 15: 73,696,426 R38Q probably benign Het
Grin2b T C 6: 135,739,090 D743G probably damaging Het
Hmbs A G 9: 44,341,213 probably null Het
Hunk T C 16: 90,475,941 Y302H probably damaging Het
Mybph A T 1: 134,197,450 I239F probably damaging Het
Ncoa3 G A 2: 166,057,200 A821T probably benign Het
Nf1 A G 11: 79,444,648 I979V possibly damaging Het
Olfr1137 T C 2: 87,711,009 E299G probably benign Het
Olfr871 A T 9: 20,213,081 H244L probably damaging Het
Pdilt G A 7: 119,519,667 T53M probably benign Het
Pdlim1 T C 19: 40,223,061 T263A probably benign Het
Pik3cg A T 12: 32,194,821 M878K possibly damaging Het
Plod1 T C 4: 147,926,157 K279R probably benign Het
Plxna4 T C 6: 32,165,117 T1602A possibly damaging Het
Rb1cc1 T A 1: 6,265,623 probably null Het
Rnls G A 19: 33,168,383 T112I probably benign Het
Ropn1 G A 16: 34,677,277 V180I probably benign Het
Rptor T C 11: 119,846,915 Y605H possibly damaging Het
Sidt2 T C 9: 45,947,001 Y80C probably benign Het
Slit1 A T 19: 41,601,680 V1389E possibly damaging Het
Spz1 G A 13: 92,575,885 P28S probably benign Het
Sult1c1 T A 17: 53,962,430 M257L probably benign Het
Tm2d3 T C 7: 65,699,169 probably null Het
Uqcr10 T C 11: 4,704,153 probably null Het
Other mutations in Papd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Papd4 APN 13 93186397 missense probably benign 0.01
IGL02896:Papd4 APN 13 93168437 missense probably damaging 1.00
IGL02802:Papd4 UTSW 13 93148941 missense probably damaging 1.00
R0538:Papd4 UTSW 13 93175615 splice site probably benign
R0568:Papd4 UTSW 13 93154992 missense probably benign 0.20
R0733:Papd4 UTSW 13 93155039 missense probably benign 0.05
R1136:Papd4 UTSW 13 93175697 critical splice donor site probably null
R1537:Papd4 UTSW 13 93175568 missense probably damaging 1.00
R1603:Papd4 UTSW 13 93175565 missense probably benign
R2508:Papd4 UTSW 13 93184218 missense probably damaging 1.00
R4920:Papd4 UTSW 13 93186325 nonsense probably null
R5881:Papd4 UTSW 13 93175738 nonsense probably null
R5916:Papd4 UTSW 13 93175547 missense probably damaging 1.00
R6333:Papd4 UTSW 13 93186313 nonsense probably null
R6783:Papd4 UTSW 13 93155018 missense probably benign 0.00
R6783:Papd4 UTSW 13 93155019 missense probably benign 0.00
Posted On2015-04-16