Incidental Mutation 'IGL00424:Rpp14'
ID277583
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: 0.936) question?
Stock #IGL00424
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 A G 3: 138,282,499 E108G probably benign Het
Afap1l2 A G 19: 57,002,308 probably benign Het
Als2cl T C 9: 110,886,539 probably null Het
Bpifb1 A G 2: 154,217,167 probably benign Het
Cux2 G A 5: 121,868,538 R890W possibly damaging Het
Fancb A C X: 164,983,338 Q272P probably damaging Het
Fmnl1 G A 11: 103,197,340 W1008* probably null Het
Gfra2 T A 14: 70,968,239 probably benign Het
Gjd2 A G 2: 114,011,777 I73T probably damaging Het
Itgae T C 11: 73,145,635 I1133T probably benign Het
Kcnh1 T A 1: 192,418,882 V594E probably damaging Het
Maml2 T A 9: 13,620,912 V474E probably damaging Het
Mysm1 G A 4: 94,972,909 probably benign Het
Ntrk3 C T 7: 78,250,873 A573T probably benign Het
Pi4kb A G 3: 95,004,263 D348G probably damaging Het
Prol1 A G 5: 88,327,859 Y36C probably benign Het
Rfx6 T A 10: 51,681,886 C152S probably damaging Het
Tnxb T G 17: 34,714,692 F2362C probably damaging Het
Tpr T A 1: 150,398,595 probably benign Het
Trf G A 9: 103,226,936 A76V probably damaging Het
Tubgcp3 C T 8: 12,621,809 R811H probably benign Het
Zfp820 A T 17: 21,819,311 H345Q probably damaging Het
Other mutations in Rpp14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Rpp14 APN 14 8083934 missense possibly damaging 0.78
IGL00478: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
R7955:Rpp14 UTSW 14 8083724 start codon destroyed probably null 0.00
Z1088:Rpp14 UTSW 14 8090539 missense probably benign
Posted On2015-04-16