Mutagenetix > Incidental Mutations

Incidental Mutation 'R6293:Rpp30'

508579

Institutional Source

Beutler Lab

Gene Symbol

Rpp30

Ensembl Gene

ENSMUSG00000024800

Gene Name

ribonuclease P/MRP 30 subunit

Synonyms

TSG15, Rnasep2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R6293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36083716-36104772 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 36104445 bp

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 269 (*269W)

Ref Sequence

ENSEMBL: ENSMUSP00000025714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025714]

Predicted Effect

probably null
Transcript: ENSMUST00000025714
AA Change: *269W

SMART Domains

Protein: ENSMUSP00000025714
Gene: ENSMUSG00000024800
AA Change: *269W

Domain	Start	End	E-Value	Type
Pfam:RNase_P_p30	5	224	4.2e-66	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,141,746	D323G	probably damaging	Het
Abcb1b	T	C	5: 8,853,493	I1048T	probably benign	Het
Adgra3	G	A	5: 49,960,847	P1120S	probably benign	Het
Alkbh8	G	T	9: 3,347,841	L211F	possibly damaging	Het
Ankrd27	T	C	7: 35,608,460	S375P	possibly damaging	Het
Apoc1	T	A	7: 19,691,892	T68S	probably damaging	Het
Arfgef2	T	A	2: 166,873,588	Y1318N	possibly damaging	Het
Camsap2	C	A	1: 136,287,920	R345L	probably damaging	Het
Ccdc38	C	T	10: 93,562,797	Q46*	probably null	Het
Cdk12	T	A	11: 98,224,553	M840K	unknown	Het
Col12a1	A	T	9: 79,614,358	N2772K	probably benign	Het
Dthd1	A	G	5: 62,842,850	D505G	probably damaging	Het
Elf1	C	T	14: 79,560,786	H38Y	probably damaging	Het
Gcnt2	T	A	13: 40,918,697	V272D	probably damaging	Het
Gm9964	T	A	11: 79,296,594	K9M	unknown	Het
Gpr155	A	G	2: 73,373,997	S158P	possibly damaging	Het
Haus5	C	T	7: 30,658,976	W298*	probably null	Het
Hmcn2	T	C	2: 31,335,451	I124T	probably damaging	Het
Hydin	A	G	8: 110,597,911	S4635G	possibly damaging	Het
Lrch2	C	T	X: 147,480,557	A369T	probably damaging	Homo
Lrrc8c	A	G	5: 105,606,746	Y129C	probably damaging	Het
Mbtd1	C	T	11: 93,932,232	H493Y	possibly damaging	Het
Mcm3ap	C	G	10: 76,471,478	Y418*	probably null	Het
Mpdz	A	G	4: 81,360,056	L764P	probably damaging	Het
Myt1l	A	G	12: 29,827,628	D426G	unknown	Het
Ndel1	C	T	11: 68,836,275	R192H	probably damaging	Het
Nudt21	T	C	8: 94,028,878	D134G	probably damaging	Het
Nup210l	A	T	3: 90,115,064	H113L	probably damaging	Het
Nxf1	A	G	19: 8,769,182	K586E	probably damaging	Het
Olfr1191-ps1	A	G	2: 88,643,280	E171G	possibly damaging	Het
Olfr697	T	C	7: 106,741,406	H176R	probably damaging	Het
Osbpl8	A	G	10: 111,272,238	Y365C	possibly damaging	Het
Pkd2l2	A	G	18: 34,427,444	Y368C	probably damaging	Het
Pkn2	A	G	3: 142,809,704	F649L	probably benign	Het
Pla2g4a	T	C	1: 149,880,047	Y205C	probably damaging	Het
Prex2	A	G	1: 11,162,298	N863S	probably benign	Het
Prkdc	A	G	16: 15,787,155	K2979R	probably benign	Het
Ptk6	T	C	2: 181,198,460	Y251C	probably damaging	Het
Rapgef6	T	A	11: 54,634,781	W334R	probably damaging	Het
Rbm11	A	T	16: 75,596,767		probably null	Het
Rhbdl1	A	G	17: 25,834,969	L309P	probably damaging	Het
Rhbg	G	A	3: 88,245,826	R274*	probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Homo
Slc44a1	A	G	4: 53,561,099	K605R	probably damaging	Het
Slco2a1	A	G	9: 103,050,147	S80G	probably benign	Het
Tmem50b	A	T	16: 91,583,276	M71K	probably damaging	Het
Ttn	G	A	2: 76,749,329	T23740M	probably damaging	Het
Tyro3	A	G	2: 119,808,000	T303A	possibly damaging	Het
Uba3	A	T	6: 97,196,908	D105E	probably damaging	Het
Vmn1r21	T	C	6: 57,844,270	D63G	probably benign	Het
Vstm2b	T	A	7: 40,900,109	I63N	probably damaging	Het
Wdr66	A	C	5: 123,322,448	N1158H	probably damaging	Het
Ylpm1	C	G	12: 85,015,277	P651A	unknown	Het
Zscan22	T	A	7: 12,906,907	C359*	probably null	Het

Other mutations in Rpp30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0271:Rpp30	UTSW	19	36104403	missense	probably benign
R1068:Rpp30	UTSW	19	36083738	start codon destroyed	probably null	1.00
R1375:Rpp30	UTSW	19	36101273	critical splice donor site	probably null
R1521:Rpp30	UTSW	19	36094385	missense	possibly damaging	0.95
R1720:Rpp30	UTSW	19	36094427	missense	probably damaging	1.00
R1872:Rpp30	UTSW	19	36087393	missense	probably benign	0.03
R1965:Rpp30	UTSW	19	36089149	missense	probably damaging	1.00
R1966:Rpp30	UTSW	19	36089149	missense	probably damaging	1.00
R4412:Rpp30	UTSW	19	36100255	missense	possibly damaging	0.95
R5576:Rpp30	UTSW	19	36101851	missense	probably benign	0.00
R5633:Rpp30	UTSW	19	36086990	missense	probably damaging	1.00
R7437:Rpp30	UTSW	19	36104438	missense	possibly damaging	0.92
R7699:Rpp30	UTSW	19	36089158	missense	probably benign	0.00
R7700:Rpp30	UTSW	19	36089158	missense	probably benign	0.00
R8404:Rpp30	UTSW	19	36089203	missense	probably damaging	1.00
R8427:Rpp30	UTSW	19	36094412	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGGGTAATGCTGGCTAAAC -3'
(R):5'- CTGAGACATCTTATTTCAGTGTACC -3'

Sequencing Primer
(F):5'- ATCTCTGCCCTTAGGAGGCTAAAG -3'
(R):5'- GACATCTTATTTCAGTGTACCTACTG -3'

Posted On

2018-03-15