Mutagenetix > Incidental Mutation

Incidental Mutation 'R5986:Mrps30'

481670

Institutional Source

Beutler Lab

Gene Symbol

Mrps30

Ensembl Gene

ENSMUSG00000021731

Gene Name

mitochondrial ribosomal protein S30

Synonyms

Pdcd9, 2610020A16Rik

MMRRC Submission

044166-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R5986 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118516646-118523788 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 118521101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022245] [ENSMUST00000181168]

AlphaFold

Q9D0G0

Predicted Effect

probably null
Transcript: ENSMUST00000022245

SMART Domains

Protein: ENSMUSP00000022245
Gene: ENSMUSG00000021731

Domain	Start	End	E-Value	Type
Pfam:PDCD9	1	423	1.7e-180	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181168

SMART Domains

Protein: ENSMUSP00000137680
Gene: ENSMUSG00000097411

Domain	Start	End	E-Value	Type
low complexity region	6	27	N/A	INTRINSIC
low complexity region	72	88	N/A	INTRINSIC
low complexity region	117	125	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225170

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that is similar to the chicken pro-apoptotic protein p52. Transcript variants using alternative promoters or polyA sites have been mentioned in the literature but the complete description of these sequences is not available. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	T	3: 116,566,145 (GRCm39)	F992I	probably damaging	Het
Ampd1	T	C	3: 102,992,713 (GRCm39)	F152L	probably damaging	Het
Ank2	T	C	3: 126,806,335 (GRCm39)	H602R	possibly damaging	Het
Ankib1	T	C	5: 3,797,071 (GRCm39)	D247G	probably damaging	Het
Bccip	T	A	7: 133,322,594 (GRCm39)	H313Q	probably benign	Het
Ccdc198	A	T	14: 49,470,403 (GRCm39)	L172H	probably damaging	Het
Cep250	A	G	2: 155,821,197 (GRCm39)	E929G	probably damaging	Het
Chl1	C	A	6: 103,686,152 (GRCm39)	L954I	probably benign	Het
Cog5	A	T	12: 31,710,716 (GRCm39)	D32V	probably benign	Het
Cyp4f16	C	A	17: 32,763,116 (GRCm39)	A187E	probably benign	Het
Dffb	A	T	4: 154,050,050 (GRCm39)	V271E	probably damaging	Het
Dnah8	A	G	17: 31,070,604 (GRCm39)	Y4430C	possibly damaging	Het
Dpp3	T	C	19: 4,968,385 (GRCm39)	E229G	probably benign	Het
Fat3	T	A	9: 15,909,613 (GRCm39)	N2130Y	probably benign	Het
Kcnk3	T	C	5: 30,745,722 (GRCm39)	V21A	possibly damaging	Het
Kif9	G	A	9: 110,319,094 (GRCm39)	S186N	probably benign	Het
Lhfpl3	C	A	5: 22,951,424 (GRCm39)	N78K	probably benign	Het
Ly6c1	A	G	15: 74,917,457 (GRCm39)	S64P	probably damaging	Het
Mapk10	T	C	5: 103,186,446 (GRCm39)	T59A	probably benign	Het
Mars1	A	T	10: 127,140,171 (GRCm39)	C394*	probably null	Het
Mettl16	T	A	11: 74,683,063 (GRCm39)	D168E	possibly damaging	Het
Mgat2	A	T	12: 69,232,158 (GRCm39)	Q244L	probably benign	Het
Myrip	C	A	9: 120,290,487 (GRCm39)	A702E	probably damaging	Het
Nepn	T	C	10: 52,280,168 (GRCm39)	L420P	probably damaging	Het
Nrn1	A	T	13: 36,918,238 (GRCm39)	Y9*	probably null	Het
Nup107	T	C	10: 117,595,081 (GRCm39)	Y752C	probably damaging	Het
Nutm2	A	T	13: 50,628,496 (GRCm39)	D520V	probably damaging	Het
Olfm2	C	T	9: 20,586,946 (GRCm39)	C48Y	probably damaging	Het
Or52j3	T	C	7: 102,836,735 (GRCm39)	F309S	possibly damaging	Het
Or8g19	A	G	9: 39,056,278 (GRCm39)	N294S	probably null	Het
Osbpl1a	T	A	18: 13,038,138 (GRCm39)	D271V	probably damaging	Het
Osmr	G	T	15: 6,873,934 (GRCm39)	D154E	probably benign	Het
Pcdh9	A	G	14: 94,124,484 (GRCm39)	V562A	probably damaging	Het
Peak1	A	C	9: 56,166,726 (GRCm39)	S401A	probably benign	Het
Pigk	A	T	3: 152,446,486 (GRCm39)	H195L	probably benign	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Ppp2r1a	C	T	17: 21,171,608 (GRCm39)	R28C	probably damaging	Het
Pramel30	G	T	4: 144,059,323 (GRCm39)	V345F	probably damaging	Het
Ptbp3	T	C	4: 59,493,311 (GRCm39)	D123G	probably benign	Het
Ptgr2	G	A	12: 84,355,120 (GRCm39)	E285K	possibly damaging	Het
Rassf1	G	T	9: 107,429,021 (GRCm39)	V76L	possibly damaging	Het
Sec22a	A	G	16: 35,134,461 (GRCm39)	V307A	probably damaging	Het
Skint5	C	T	4: 113,852,845 (GRCm39)	V18I	probably benign	Het
Slc1a5	T	C	7: 16,516,151 (GRCm39)	V109A	probably benign	Het
St8sia5	T	A	18: 77,342,478 (GRCm39)	M396K	possibly damaging	Het
Tiam1	T	C	16: 89,586,074 (GRCm39)	E602G	probably benign	Het
Tll1	T	C	8: 64,527,297 (GRCm39)	E408G	probably damaging	Het
Tpsb2	G	A	17: 25,586,108 (GRCm39)	V109M	probably benign	Het
Trib1	T	A	15: 59,526,451 (GRCm39)		probably null	Het
Trio	G	T	15: 27,852,019 (GRCm39)	A765E	possibly damaging	Het
Uggt2	A	T	14: 119,286,838 (GRCm39)	V193E	probably damaging	Het
Vmn1r115	G	A	7: 20,578,447 (GRCm39)	P155L	probably benign	Het
Wdr31	A	G	4: 62,374,113 (GRCm39)	L292S	probably benign	Het
Xrra1	T	C	7: 99,525,462 (GRCm39)	I127T	probably benign	Het
Yju2	G	A	17: 56,269,030 (GRCm39)	C46Y	probably damaging	Het
Zfp442	G	A	2: 150,249,944 (GRCm39)	Q596*	probably null	Het

Other mutations in Mrps30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01647:Mrps30	APN	13	118,517,146 (GRCm39)	missense	probably damaging	1.00
R0030:Mrps30	UTSW	13	118,519,531 (GRCm39)	missense	possibly damaging	0.94
R2439:Mrps30	UTSW	13	118,521,808 (GRCm39)	missense	probably damaging	1.00
R2764:Mrps30	UTSW	13	118,521,124 (GRCm39)	missense	probably benign	0.03
R4030:Mrps30	UTSW	13	118,517,077 (GRCm39)	missense	probably damaging	1.00
R4231:Mrps30	UTSW	13	118,523,376 (GRCm39)	missense	probably damaging	0.98
R4232:Mrps30	UTSW	13	118,523,376 (GRCm39)	missense	probably damaging	0.98
R4234:Mrps30	UTSW	13	118,523,376 (GRCm39)	missense	probably damaging	0.98
R4235:Mrps30	UTSW	13	118,523,376 (GRCm39)	missense	probably damaging	0.98
R4236:Mrps30	UTSW	13	118,523,376 (GRCm39)	missense	probably damaging	0.98
R4625:Mrps30	UTSW	13	118,523,250 (GRCm39)	missense	probably benign	0.14
R4935:Mrps30	UTSW	13	118,523,431 (GRCm39)	missense	possibly damaging	0.82
R5363:Mrps30	UTSW	13	118,523,698 (GRCm39)	missense	probably benign	0.39
R6566:Mrps30	UTSW	13	118,523,662 (GRCm39)	missense	probably benign	0.00
R6681:Mrps30	UTSW	13	118,517,134 (GRCm39)	missense	probably damaging	0.98
R6694:Mrps30	UTSW	13	118,523,497 (GRCm39)	missense	possibly damaging	0.82
R6699:Mrps30	UTSW	13	118,517,134 (GRCm39)	missense	probably damaging	0.98
R6700:Mrps30	UTSW	13	118,517,134 (GRCm39)	missense	probably damaging	0.98
R6788:Mrps30	UTSW	13	118,516,908 (GRCm39)	missense	probably benign	0.06
R8788:Mrps30	UTSW	13	118,523,538 (GRCm39)	missense	possibly damaging	0.86
R8905:Mrps30	UTSW	13	118,523,479 (GRCm39)	missense	probably benign
R8914:Mrps30	UTSW	13	118,523,755 (GRCm39)	missense	possibly damaging	0.52
R8927:Mrps30	UTSW	13	118,523,205 (GRCm39)	missense	probably damaging	1.00
R8928:Mrps30	UTSW	13	118,523,205 (GRCm39)	missense	probably damaging	1.00
R8930:Mrps30	UTSW	13	118,523,695 (GRCm39)	missense	probably benign
R8932:Mrps30	UTSW	13	118,523,695 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGGCAATATACCATCCTACGG -3'
(R):5'- GCTCTGAATGTTCCCAACTTTG -3'

Sequencing Primer
(F):5'- CTACGGTAGGAAGGGAAGAGGC -3'
(R):5'- ACACTTCAGACTTTTGATTCAGAG -3'

Posted On

2017-06-26