Incidental Mutation 'IGL03127:Ppp1r14d'
ID410195
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r14d
Ensembl Gene ENSMUSG00000027317
Gene Nameprotein phosphatase 1, regulatory (inhibitor) subunit 14D
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.028) question?
Stock #IGL03127
Quality Score
Status
Chromosome2
Chromosomal Location119218119-119229906 bp(-) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to G at 119218360 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Glutamine at position 147 (*147Q)
Ref Sequence ENSEMBL: ENSMUSP00000075453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076084] [ENSMUST00000090174] [ENSMUST00000102519] [ENSMUST00000110820]
Predicted Effect probably null
Transcript: ENSMUST00000076084
AA Change: *147Q
SMART Domains Protein: ENSMUSP00000075453
Gene: ENSMUSG00000027317
AA Change: *147Q

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:PP1_inhibitor 22 146 1.3e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090174
SMART Domains Protein: ENSMUSP00000087636
Gene: ENSMUSG00000068580

DomainStartEndE-ValueType
FYVE 2 59 4.32e-6 SMART
RING 8 53 5.56e-1 SMART
low complexity region 167 187 N/A INTRINSIC
coiled coil region 226 260 N/A INTRINSIC
low complexity region 325 335 N/A INTRINSIC
PDB:2D8V|A 336 389 2e-35 PDB
Blast:RING 339 380 7e-21 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000102519
SMART Domains Protein: ENSMUSP00000099577
Gene: ENSMUSG00000068580

DomainStartEndE-ValueType
FYVE 2 59 4.32e-6 SMART
RING 8 53 5.56e-1 SMART
low complexity region 167 187 N/A INTRINSIC
coiled coil region 226 260 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000110820
SMART Domains Protein: ENSMUSP00000106444
Gene: ENSMUSG00000027317

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:PP1_inhibitor 22 100 2.1e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154185
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein phosphatase-1 (PP1; see MIM 176875) is a major cellular phosphatase that reverses serine/threonine protein phosphorylation. PPP1R14D is a PP1 inhibitor that itself is regulated by phosphorylation (Liu et al., 2004 [PubMed 12974676]).[supplied by OMIM, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Amdhd2 A G 17: 24,157,738 probably null Het
Apol7c A G 15: 77,525,906 M280T probably benign Het
Atl2 T C 17: 79,852,854 M264V probably damaging Het
Ccdc141 C T 2: 77,029,235 probably null Het
Dtx4 T C 19: 12,486,500 probably benign Het
Dyrk4 G A 6: 126,897,171 T152I possibly damaging Het
F5 T A 1: 164,193,538 I1194N probably benign Het
Gadl1 C T 9: 115,948,664 T126M probably damaging Het
Gcnt7 A T 2: 172,454,411 C110* probably null Het
H2-M9 C T 17: 36,640,822 V254M possibly damaging Het
Hadha A T 5: 30,134,186 Het
Kit T C 5: 75,641,188 M621T probably benign Het
Krt73 T C 15: 101,795,840 M422V probably benign Het
Neil2 T C 14: 63,191,808 H12R probably benign Het
Nrsn1 A G 13: 25,253,717 L76P probably damaging Het
Olfr1393 T G 11: 49,280,772 V208G possibly damaging Het
Olfr906 C A 9: 38,488,586 Q186K probably benign Het
Olfr924 T A 9: 38,848,209 Y32N probably damaging Het
Pot1a G A 6: 25,794,616 A23V probably benign Het
Ptger2 T C 14: 45,002,005 probably benign Het
Syne3 A T 12: 104,943,428 D716E probably benign Het
Tbc1d9 A G 8: 83,249,473 N554D probably damaging Het
Ushbp1 T A 8: 71,394,376 Q204L possibly damaging Het
Other mutations in Ppp1r14d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02683:Ppp1r14d APN 2 119218822 missense probably damaging 1.00
R0689:Ppp1r14d UTSW 2 119229612 missense probably damaging 1.00
Posted On2016-08-02