Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00424:Rpp14'

277583

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: 0.945) question?

Stock #

IGL00424

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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	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

2015-04-16