Incidental Mutation 'IGL00538:Rpp14'
ID277730
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 #IGL00538
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl9 T A 5: 77,004,056 M1K probably null Het
Asf1a T C 10: 53,606,131 L13P probably damaging Het
Atg2b T G 12: 105,644,916 H1252P probably benign Het
Cacna2d1 C T 5: 16,246,785 R216* probably null Het
Cdc42ep3 G A 17: 79,335,455 A12V possibly damaging Het
Cntn3 G A 6: 102,420,262 Q117* probably null Het
Cyp3a41b G A 5: 145,578,200 probably benign Het
Dhx36 T C 3: 62,501,045 E124G probably benign Het
Galnt7 T A 8: 57,552,522 T226S possibly damaging Het
H2al3 T A X: 9,850,005 probably benign Het
Ighv1-7 C A 12: 114,538,761 E29* probably null Het
Iqcb1 G T 16: 36,858,586 V421F probably benign Het
Lrrc8c G A 5: 105,607,210 V284I probably damaging Het
Samd9l A T 6: 3,376,779 Y161N probably damaging Het
Slc14a1 A T 18: 78,104,073 F313Y probably damaging Het
Taco1 T A 11: 106,071,979 I164N probably damaging Het
Tenm3 G T 8: 48,236,025 H2176N probably damaging Het
Tmem156 T C 5: 65,073,840 Y165C probably damaging Het
Trpc7 A T 13: 56,773,809 N731K possibly damaging Het
Ubox5 T C 2: 130,599,888 N293S 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
IGL00478: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 On2015-04-16