Incidental Mutation 'IGL02109:Pnldc1'
ID281147
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pnldc1
Ensembl Gene ENSMUSG00000073460
Gene Namepoly(A)-specific ribonuclease (PARN)-like domain containing 1
SynonymsLOC240023
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #IGL02109
Quality Score
Status
Chromosome17
Chromosomal Location12888902-12910000 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 12905538 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 143 (H143Q)
Ref Sequence ENSEMBL: ENSMUSP00000129377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163394]
Predicted Effect probably benign
Transcript: ENSMUST00000163394
AA Change: H143Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000129377
Gene: ENSMUSG00000073460
AA Change: H143Q

DomainStartEndE-ValueType
Pfam:CAF1 3 373 1e-75 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank1 T A 8: 23,096,184 N427K probably damaging Het
Ano10 C T 9: 122,261,342 E302K probably damaging Het
Arl3 T A 19: 46,542,346 probably benign Het
Clec14a T A 12: 58,268,148 E229D probably benign Het
Ctbp1 T C 5: 33,266,968 D26G probably damaging Het
Flt3 G T 5: 147,350,681 H671N probably benign Het
Fras1 A G 5: 96,700,523 D1799G probably benign Het
Il20ra G A 10: 19,759,505 G498D possibly damaging Het
Kcnu1 T G 8: 25,937,699 L348R possibly damaging Het
Lrpprc A T 17: 84,726,570 L999* probably null Het
Myt1 T G 2: 181,815,617 probably benign Het
N4bp2 C T 5: 65,798,134 T467M probably damaging Het
Nup98 T C 7: 102,183,486 T355A probably benign Het
Ocstamp A T 2: 165,397,336 V310E possibly damaging Het
Olfr1285 T G 2: 111,408,493 noncoding transcript Het
Olfr147 T C 9: 38,403,086 F71L possibly damaging Het
Plcb1 C A 2: 134,786,559 H9Q probably damaging Het
Plxna4 T A 6: 32,215,641 Q795L probably benign Het
Pms1 A G 1: 53,207,409 S324P probably damaging Het
Ppp1r12b A G 1: 134,872,805 probably null Het
Ryr3 A G 2: 112,949,157 F250L probably benign Het
Scgn T C 13: 23,953,965 D241G possibly damaging Het
St8sia4 T C 1: 95,660,892 I73V possibly damaging Het
Tle3 T A 9: 61,413,050 C595S probably damaging Het
Tmem209 T C 6: 30,497,945 Y117C probably damaging Het
Tshr T A 12: 91,537,992 I568N probably damaging Het
Ttll10 C T 4: 156,047,480 D22N probably benign Het
Ttn A T 2: 76,809,858 V13802E probably damaging Het
Other mutations in Pnldc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Pnldc1 APN 17 12905758 splice site probably benign
IGL01599:Pnldc1 APN 17 12906528 missense probably benign 0.18
R0022:Pnldc1 UTSW 17 12890119 missense probably damaging 1.00
R0423:Pnldc1 UTSW 17 12890076 missense possibly damaging 0.51
R1921:Pnldc1 UTSW 17 12888928 missense possibly damaging 0.94
R1978:Pnldc1 UTSW 17 12906505 missense possibly damaging 0.88
R2403:Pnldc1 UTSW 17 12899890 missense probably damaging 1.00
R4027:Pnldc1 UTSW 17 12890779 missense probably benign 0.01
R4574:Pnldc1 UTSW 17 12892782 missense probably benign 0.01
R5148:Pnldc1 UTSW 17 12892789 missense probably benign 0.00
R5381:Pnldc1 UTSW 17 12890396 missense probably benign 0.07
R5973:Pnldc1 UTSW 17 12894373 missense probably benign 0.07
R6073:Pnldc1 UTSW 17 12890363 missense probably null 0.05
R6368:Pnldc1 UTSW 17 12905864 missense probably damaging 1.00
R6551:Pnldc1 UTSW 17 12905569 missense probably damaging 0.98
R7909:Pnldc1 UTSW 17 12903211 missense probably benign 0.04
R8088:Pnldc1 UTSW 17 12897302 missense probably damaging 1.00
Posted On2015-04-16