Incidental Mutation 'IGL00478:Rpp14'
ID332184
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpp14
Ensembl Gene ENSMUSG00000023156
Gene Nameribonuclease P 14 subunit
Synonyms2610511E03Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.937) question?
Stock #IGL00478
Quality Score
Status
Chromosome14
Chromosomal Location8080367-8091834 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 8083934 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Glutamic Acid at position 30 (G30E)
Ref Sequence ENSEMBL: ENSMUSP00000023924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023924]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023924
AA Change: G30E

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023924
Gene: ENSMUSG00000023156
AA Change: G30E

DomainStartEndE-ValueType
Pfam:RNase_P_Rpp14 8 109 1.8e-11 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars A G 8: 111,047,972 T578A possibly damaging Het
Ablim1 C T 19: 57,068,186 A359T probably damaging Het
Akap9 G A 5: 4,046,639 V2505M probably damaging Het
Alpk2 A T 18: 65,307,226 C365* probably null Het
C920021L13Rik A T 3: 95,887,485 probably benign Het
Chd3 A T 11: 69,357,062 V905E probably damaging Het
Cntrl T C 2: 35,160,601 V1529A probably damaging Het
Coro2a T C 4: 46,540,455 D488G probably benign Het
Dpf1 G T 7: 29,316,556 probably benign Het
Fga T A 3: 83,028,644 D59E probably benign Het
Ggh T A 4: 20,057,965 H175Q probably benign Het
Glyat T C 19: 12,648,133 probably benign Het
Gpr137c T C 14: 45,278,745 V312A probably damaging Het
Myt1 T C 2: 181,801,115 S466P probably damaging Het
Nlrp5 A T 7: 23,441,788 D1078V probably damaging Het
Rad17 T C 13: 100,633,274 D259G probably damaging Het
Uspl1 A T 5: 149,215,214 T1075S possibly damaging Het
Vash1 T A 12: 86,680,268 I94N possibly damaging Het
Zfp770 T C 2: 114,197,465 E41G probably damaging Het
Other mutations in Rpp14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Rpp14 APN 14 8083934 missense possibly damaging 0.78
IGL00424:Rpp14 APN 14 8083934 missense possibly damaging 0.78
IGL00538:Rpp14 APN 14 8083934 missense possibly damaging 0.78
R1167:Rpp14 UTSW 14 8083705 splice site probably null
R1499:Rpp14 UTSW 14 8090528 missense probably benign 0.18
R1874:Rpp14 UTSW 14 8090145 missense probably benign
R4778:Rpp14 UTSW 14 8090203 missense probably benign 0.08
R5222:Rpp14 UTSW 14 8087513 missense probably damaging 0.96
R5561:Rpp14 UTSW 14 8090558 unclassified probably null
R6015:Rpp14 UTSW 14 8090462 missense probably benign 0.00
R6801:Rpp14 UTSW 14 8083717 start gained probably benign
R7643:Rpp14 UTSW 14 8090325 nonsense probably null
R7685:Rpp14 UTSW 14 8090453 missense probably damaging 0.98
R7872:Rpp14 UTSW 14 8083724 start codon destroyed probably null 0.00
R8259:Rpp14 UTSW 14 8090526 missense probably null 0.94
Z1088:Rpp14 UTSW 14 8090539 missense probably benign
Posted On2015-08-05