Mutagenetix > Incidental Mutation

Incidental Mutation 'R6015:Rpp14'

478579

Institutional Source

Beutler Lab

Gene Symbol

Rpp14

Ensembl Gene

ENSMUSG00000023156

Gene Name

ribonuclease P 14 subunit

Synonyms

2610511E03Rik

MMRRC Submission

043254-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R6015 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8080367-8091834 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 8090462 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 129 (V129I)

Ref Sequence

ENSEMBL: ENSMUSP00000136494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023924] [ENSMUST00000180369]

AlphaFold

Q9CQH8

Predicted Effect

probably benign
Transcript: ENSMUST00000023924

SMART Domains

Protein: ENSMUSP00000023924
Gene: ENSMUSG00000023156

Domain	Start	End	E-Value	Type
Pfam:RNase_P_Rpp14	8	109	1.8e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180369
AA Change: V129I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000136494
Gene: ENSMUSG00000023156
AA Change: V129I

Domain	Start	End	E-Value	Type
Pfam:MaoC_dehydratas	22	142	2e-21	PFAM
Pfam:MaoC_dehydrat_N	26	148	6.4e-9	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	C	1: 105,691,958	L280S	probably damaging	Het
Ano5	A	C	7: 51,574,777	S480R	probably benign	Het
Aqr	A	G	2: 114,175,165	M1T	probably null	Het
Arhgef28	A	G	13: 98,075,022	V151A	possibly damaging	Het
Atp6v1b2	T	A	8: 69,102,496	I170N	probably damaging	Het
Atxn2	T	A	5: 121,810,992	V817D	probably damaging	Het
Cdh23	A	C	10: 60,307,982	I2950S	probably damaging	Het
Ces1h	A	G	8: 93,357,063	L417P	unknown	Het
Csf1r	A	G	18: 61,109,712	E49G	possibly damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Fat3	A	G	9: 16,376,050	S726P	possibly damaging	Het
Grik2	A	T	10: 49,523,863		probably null	Het
Il9r	A	G	11: 32,192,674	V287A	probably benign	Het
Inpp5b	T	C	4: 124,798,350	C909R	possibly damaging	Het
Kat7	G	A	11: 95,284,034	H384Y	probably damaging	Het
Lama5	A	G	2: 180,185,392	S2272P	probably benign	Het
Megf10	A	G	18: 57,253,028	H371R	probably benign	Het
Moxd2	A	T	6: 40,883,754	Y310N	probably damaging	Het
Ntrk2	A	T	13: 59,060,395	E685V	probably damaging	Het
Ogfr	G	T	2: 180,594,674	G351W	probably damaging	Het
Olfr655	G	T	7: 104,596,708	P158T	probably damaging	Het
Parp3	C	T	9: 106,474,282	V207M	possibly damaging	Het
Pfkfb3	T	C	2: 11,481,335		probably null	Het
Pifo	T	C	3: 105,999,621	D154G	possibly damaging	Het
Pigr	T	C	1: 130,847,261	V475A	probably benign	Het
Pik3ap1	T	A	19: 41,328,201	Y250F	probably benign	Het
Ppp1r3c	A	T	19: 36,733,806	I188N	probably damaging	Het
Prmt7	T	G	8: 106,235,008		probably benign	Het
Psapl1	T	C	5: 36,204,250	V62A	probably benign	Het
Sema4f	A	G	6: 82,939,572		probably benign	Het
Serpinb13	C	A	1: 107,000,607	A319E	probably benign	Het
Sez6l2	A	T	7: 126,953,453	S134C	probably damaging	Het
Slc4a10	T	A	2: 62,228,702	H184Q	probably benign	Het
Slc9a9	G	T	9: 94,939,549	A330S	probably benign	Het
Sord	T	C	2: 122,256,943	V176A	probably damaging	Het
Ssbp2	G	T	13: 91,669,743		probably null	Het
Stab2	G	T	10: 86,938,042	N808K	probably damaging	Het
Syne1	A	G	10: 5,346,819		probably null	Het
Tpcn2	A	G	7: 145,266,851	V341A	probably damaging	Het
Unc13b	C	A	4: 43,177,995	S2941*	probably null	Het
Utrn	T	A	10: 12,478,424	H2806L	possibly damaging	Het
Vmn1r40	C	A	6: 89,714,606	A135D	probably damaging	Het
Vmn1r68	C	T	7: 10,527,689	V161M	probably benign	Het
Wiz	T	A	17: 32,387,600	I54F	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGGAAAGACAATTGTTCACGGAG -3'
(R):5'- TGCACCAATCTGGAAGTCTC -3'

Sequencing Primer
(F):5'- GTTCACGGAGTTTTGATAAATGGAC -3'
(R):5'- TGGATATACCAGCATTCCTCCAGG -3'

Posted On

2017-06-26