Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00478:Rpp14'

332184

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rpp14

Ensembl Gene

ENSMUSG00000023156

Gene Name

ribonuclease P 14 subunit

Synonyms

2610511E03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

IGL00478

Quality Score

Status

Chromosome

Chromosomal Location

8080367-8091834 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 8083934 bp (GRCm38)

Zygosity

Heterozygous

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]

AlphaFold

Q9CQH8

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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	splice site	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
R8491:Rpp14	UTSW	14	8083925	missense	possibly damaging	0.70
R8973:Rpp14	UTSW	14	8088768	missense	probably benign
R9035:Rpp14	UTSW	14	8083772	missense	possibly damaging	0.92
Z1088:Rpp14	UTSW	14	8090539	missense	probably benign

Posted On

2015-08-05