Mutagenetix > Incidental Mutation

Incidental Mutation 'R6700:Mrps30'

528234

Institutional Source

Beutler Lab

Gene Symbol

Mrps30

Ensembl Gene

ENSMUSG00000021731

Gene Name

mitochondrial ribosomal protein S30

Synonyms

Pdcd9, 2610020A16Rik

MMRRC Submission

044818-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R6700 (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: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

100% (62/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,881,140 (GRCm39)	E504G	unknown	Het
Aak1	G	A	6: 86,941,185 (GRCm39)	E660K	unknown	Het
Abcc9	A	G	6: 142,633,013 (GRCm39)	I243T	possibly damaging	Het
Baiap3	A	G	17: 25,463,000 (GRCm39)	S1013P	probably damaging	Het
Bdp1	A	T	13: 100,162,036 (GRCm39)	D2295E	probably benign	Het
Blm	A	G	7: 80,113,598 (GRCm39)	V1233A	possibly damaging	Het
Brsk1	G	T	7: 4,695,700 (GRCm39)	V62F	probably damaging	Het
Cacna2d1	A	G	5: 16,570,458 (GRCm39)	E1011G	probably damaging	Het
Cdh18	A	G	15: 23,474,191 (GRCm39)	Y687C	probably benign	Het
Cfap221	T	C	1: 119,883,421 (GRCm39)	E250G	possibly damaging	Het
Col5a3	C	T	9: 20,690,329 (GRCm39)	G1162R	probably damaging	Het
Cps1	G	T	1: 67,268,682 (GRCm39)		probably null	Het
Cyp4v3	A	G	8: 45,760,130 (GRCm39)	V34A	probably damaging	Het
Dnah9	C	T	11: 65,846,192 (GRCm39)	V2949M	probably damaging	Het
Dst	A	C	1: 34,295,404 (GRCm39)	Q3454P	probably damaging	Het
Filip1l	T	C	16: 57,391,611 (GRCm39)	L495P	possibly damaging	Het
Flnb	C	A	14: 7,892,189 (GRCm38)	H619Q	probably damaging	Het
Fst	G	C	13: 114,595,043 (GRCm39)	A27G	probably benign	Het
Ggnbp2	C	A	11: 84,730,931 (GRCm39)	R364L	probably damaging	Het
Gins1	C	T	2: 150,758,148 (GRCm39)	A78V	probably damaging	Het
Gm19410	T	A	8: 36,274,664 (GRCm39)	L1495H	possibly damaging	Het
Golgb1	C	T	16: 36,695,946 (GRCm39)		probably benign	Het
Lin7a	A	G	10: 107,216,167 (GRCm39)		probably null	Het
Lrp6	A	T	6: 134,456,523 (GRCm39)	C914S	probably damaging	Het
Lrrc8e	G	A	8: 4,286,034 (GRCm39)	G753D	probably damaging	Het
Mapk4	A	G	18: 74,063,882 (GRCm39)	Y447H	probably damaging	Het
Mbl1	A	G	14: 40,880,511 (GRCm39)	N133S	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Nbea	T	C	3: 55,989,869 (GRCm39)	N329S	possibly damaging	Het
Or13p10	A	T	4: 118,523,609 (GRCm39)	K298N	probably benign	Het
Or51k2	G	A	7: 103,596,531 (GRCm39)	V253M	probably damaging	Het
Or5b120	A	T	19: 13,480,177 (GRCm39)	I157F	probably damaging	Het
Or6k14	G	A	1: 173,927,405 (GRCm39)	C127Y	probably damaging	Het
Pik3c3	A	G	18: 30,449,954 (GRCm39)	E589G	probably benign	Het
Plb1	A	T	5: 32,490,808 (GRCm39)	D1035V	probably damaging	Het
Plekhg1	G	T	10: 3,907,373 (GRCm39)	M763I	probably benign	Het
Poc5	A	G	13: 96,531,003 (GRCm39)	N67S	probably benign	Het
Psmd13	T	A	7: 140,470,522 (GRCm39)	W255R	probably damaging	Het
Rbm27	A	G	18: 42,459,004 (GRCm39)	Y735C	probably damaging	Het
Rhpn2	A	T	7: 35,075,594 (GRCm39)	N257I	possibly damaging	Het
Rilpl2	C	T	5: 124,607,843 (GRCm39)	E126K	probably damaging	Het
Rp1	G	A	1: 4,420,119 (GRCm39)	T331M	probably damaging	Het
Sh3pxd2a	A	G	19: 47,353,146 (GRCm39)	V105A	possibly damaging	Het
Slc9a9	T	C	9: 94,818,364 (GRCm39)	S253P	possibly damaging	Het
St8sia3	C	T	18: 64,398,452 (GRCm39)		probably benign	Het
Strbp	T	C	2: 37,493,975 (GRCm39)	D366G	probably null	Het
Tbx5	A	G	5: 120,009,462 (GRCm39)	T324A	probably benign	Het
Tex15	T	A	8: 34,064,917 (GRCm39)	I1449N	possibly damaging	Het
Tmtc3	C	T	10: 100,307,339 (GRCm39)	V222I	probably benign	Het
Top3b	T	C	16: 16,710,533 (GRCm39)	S788P	possibly damaging	Het
Tsc22d4	A	G	5: 137,756,785 (GRCm39)	D71G	probably benign	Het
Tubgcp4	T	A	2: 121,020,329 (GRCm39)	V434E	probably benign	Het
Ufsp1	A	G	5: 137,293,158 (GRCm39)	Y36C	possibly damaging	Het
Unc79	T	A	12: 103,091,962 (GRCm39)	H1956Q	possibly damaging	Het
Usp34	A	T	11: 23,389,011 (GRCm39)	N2217I	probably damaging	Het
Vmn2r112	A	T	17: 22,822,462 (GRCm39)	D380V	possibly damaging	Het
Vmn2r13	A	G	5: 109,322,938 (GRCm39)	I117T	probably benign	Het
Vmn2r53	A	G	7: 12,315,633 (GRCm39)	Y729H	probably damaging	Het
Wnt3a	A	T	11: 59,140,587 (GRCm39)	L310M	probably damaging	Het
Zc3h7a	T	C	16: 10,976,831 (GRCm39)	Q155R	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
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
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'- GGATGGATCATAAGTCTCGGGAC -3'

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

Posted On

2018-07-24