Mutagenetix > Incidental Mutation

Incidental Mutation 'R6681:Mrps30'

527514

Institutional Source

Beutler Lab

Gene Symbol

Mrps30

Ensembl Gene

ENSMUSG00000021731

Gene Name

mitochondrial ribosomal protein S30

Synonyms

Pdcd9, 2610020A16Rik

MMRRC Submission

044800-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R6681 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118516646-118523788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118517134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 362 (S362T)

Ref Sequence

ENSEMBL: ENSMUSP00000022245 (fasta)

Gene Model

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

AlphaFold

Q9D0G0

Predicted Effect

probably damaging
Transcript: ENSMUST00000022245
AA Change: S362T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022245
Gene: ENSMUSG00000021731
AA Change: S362T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225170

Meta Mutation Damage Score

0.6558

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

98% (45/46)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 121,915,447 (GRCm39)	T971S	probably damaging	Het
Catsperb	C	T	12: 101,590,994 (GRCm39)	Q1021*	probably null	Het
Ccdc62	A	G	5: 124,072,156 (GRCm39)	T62A	probably benign	Het
Cuzd1	A	G	7: 130,913,412 (GRCm39)	S402P	probably damaging	Het
Dcun1d1	C	T	3: 35,949,819 (GRCm39)	V244M	probably damaging	Het
Dennd2c	A	G	3: 103,038,977 (GRCm39)	T42A	probably benign	Het
Dnah7a	T	C	1: 53,560,385 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dpp4	A	T	2: 62,178,893 (GRCm39)	F607L	probably benign	Het
Ech1	C	T	7: 28,529,763 (GRCm39)		probably null	Het
Fam53a	A	G	5: 33,765,184 (GRCm39)	L174P	probably damaging	Het
Fh1	T	C	1: 175,446,690 (GRCm39)	D62G	probably null	Het
Gpatch11	T	C	17: 79,147,528 (GRCm39)	I103T	probably damaging	Het
Hmgcll1	A	T	9: 75,988,731 (GRCm39)	T169S	probably benign	Het
Kbtbd3	A	T	9: 4,330,687 (GRCm39)	I354F	probably benign	Het
Kdm5b	T	C	1: 134,541,007 (GRCm39)	F700L	possibly damaging	Het
Mamdc4	C	A	2: 25,457,756 (GRCm39)	G439V	probably damaging	Het
Mug1	C	T	6: 121,815,683 (GRCm39)	S29L	possibly damaging	Het
Myh2	G	A	11: 67,069,174 (GRCm39)	D328N	probably damaging	Het
Or10j3b	C	A	1: 173,043,973 (GRCm39)	H252N	probably damaging	Het
Or5b98	A	G	19: 12,931,823 (GRCm39)	Y290C	probably damaging	Het
Or5j1	T	C	2: 86,878,942 (GRCm39)	T213A	probably benign	Het
Or8g54	T	A	9: 39,706,710 (GRCm39)	I13N	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pira13	T	A	7: 3,825,251 (GRCm39)	M464L	probably benign	Het
Pus7l	G	A	15: 94,425,746 (GRCm39)	P552S	probably benign	Het
Rest	A	G	5: 77,428,844 (GRCm39)	K421R	probably damaging	Het
Rttn	C	A	18: 89,032,735 (GRCm39)	H668N	probably damaging	Het
Scn9a	T	C	2: 66,393,686 (GRCm39)	I228V	possibly damaging	Het
Scp2	G	T	4: 107,948,513 (GRCm39)	Q155K	probably damaging	Het
Sec61a2	G	A	2: 5,881,219 (GRCm39)	R18*	probably null	Het
Serpinb8	T	A	1: 107,525,321 (GRCm39)	M41K	probably damaging	Het
Sgsm2	A	T	11: 74,756,204 (GRCm39)	W382R	probably damaging	Het
Slc26a10	G	T	10: 127,009,530 (GRCm39)	T606N	possibly damaging	Het
Slc30a6	T	C	17: 74,711,027 (GRCm39)	I40T	possibly damaging	Het
Slfn5	G	A	11: 82,847,204 (GRCm39)	E30K	possibly damaging	Het
Sorcs2	C	A	5: 36,555,154 (GRCm39)	R79L	probably benign	Het
Tmc5	G	A	7: 118,268,527 (GRCm39)	S865N	probably damaging	Het
Tmprss11c	T	A	5: 86,437,119 (GRCm39)	M1L	possibly damaging	Het
Trpv5	C	G	6: 41,630,288 (GRCm39)	E601Q	probably damaging	Het
Ttc39b	A	T	4: 83,158,285 (GRCm39)		probably benign	Het
Ttll6	T	A	11: 96,029,689 (GRCm39)	C201S	probably damaging	Het
Vezt	A	G	10: 93,832,859 (GRCm39)	V204A	probably benign	Het
Vmn1r45	T	A	6: 89,910,985 (GRCm39)		probably benign	Het
Zfp433	A	T	10: 81,556,722 (GRCm39)	H408L	probably damaging	Het
Zfp865	T	C	7: 5,032,450 (GRCm39)	I145T	possibly damaging	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
R5986:Mrps30	UTSW	13	118,521,101 (GRCm39)	critical splice donor site	probably null
R6566:Mrps30	UTSW	13	118,523,662 (GRCm39)	missense	probably benign	0.00
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'- AACAGCTGTGCTCCGTCTTC -3'
(R):5'- GGATGGATCATAAGTCTCGGG -3'

Sequencing Primer
(F):5'- TCTCTTGGTTTATTTAGCAGAAAGTG -3'
(R):5'- TACCGGAATAGAATATAGAGTTCACG -3'

Posted On

2018-07-23