Mutagenetix > Incidental Mutation

Incidental Mutation 'R8788:Mrps30'

670779

Institutional Source

Beutler Lab

Gene Symbol

Mrps30

Ensembl Gene

ENSMUSG00000021731

Gene Name

mitochondrial ribosomal protein S30

Synonyms

Pdcd9, 2610020A16Rik

MMRRC Submission

068607-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R8788 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118516646-118523788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118523538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 78 (E78G)

Ref Sequence

ENSEMBL: ENSMUSP00000022245 (fasta)

Gene Model

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

AlphaFold

Q9D0G0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022245
AA Change: E78G

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022245
Gene: ENSMUSG00000021731
AA Change: E78G

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

Predicted Effect

unknown
Transcript: ENSMUST00000181168
AA Change: S67P

SMART Domains

Protein: ENSMUSP00000137680
Gene: ENSMUSG00000097411
AA Change: S67P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (53/53)

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
Ank3	A	T	10: 69,718,256 (GRCm39)	L502F	unknown	Het
Btbd8	A	G	5: 107,618,853 (GRCm39)	*252W	probably null	Het
Btnl9	T	A	11: 49,066,614 (GRCm39)	M336L	probably benign	Het
Cd72	T	C	4: 43,450,185 (GRCm39)	E241G	probably benign	Het
Cdh23	T	A	10: 60,324,372 (GRCm39)	N296I	probably damaging	Het
Celf6	C	A	9: 59,485,750 (GRCm39)	S30R	possibly damaging	Het
Crxos	T	C	7: 15,632,499 (GRCm39)	Y102H	probably benign	Het
Csmd3	A	T	15: 47,470,513 (GRCm39)	S2477T		Het
Evi2a	T	A	11: 79,418,531 (GRCm39)	R26S	probably benign	Het
Ezr	T	C	17: 7,021,392 (GRCm39)	M182V	probably benign	Het
Fat2	G	T	11: 55,171,929 (GRCm39)	A2928D	possibly damaging	Het
Fetub	A	T	16: 22,758,182 (GRCm39)	K322*	probably null	Het
Fscb	T	C	12: 64,518,395 (GRCm39)	T1024A	unknown	Het
Gdpd1	A	G	11: 86,950,318 (GRCm39)	V85A	probably damaging	Het
Gm38119	G	T	3: 92,645,537 (GRCm39)	P19H	unknown	Het
Gpr182	T	C	10: 127,586,529 (GRCm39)	T141A	probably benign	Het
Inpp5d	G	A	1: 87,611,484 (GRCm39)	G312D	probably damaging	Het
Kif26b	G	A	1: 178,357,090 (GRCm39)		probably benign	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 141,850,333 (GRCm39)		probably benign	Het
Lcor	C	T	19: 41,573,698 (GRCm39)	R818W	probably damaging	Het
Maf	T	A	8: 116,432,612 (GRCm39)	I331F	probably damaging	Het
Mark3	C	A	12: 111,613,124 (GRCm39)	S529R	probably benign	Het
Mmp10	A	G	9: 7,502,687 (GRCm39)		probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nhsl3	A	G	4: 129,119,743 (GRCm39)	V97A	probably benign	Het
Or4c116	T	C	2: 88,942,626 (GRCm39)	T77A	probably benign	Het
Pcdh12	G	A	18: 38,416,109 (GRCm39)	L339F	probably benign	Het
Pdgfd	A	G	9: 6,377,000 (GRCm39)	S365G	probably benign	Het
Piezo1	T	C	8: 123,228,533 (GRCm39)	M281V		Het
Prkg2	C	T	5: 99,117,839 (GRCm39)	E501K	probably damaging	Het
Recql5	T	C	11: 115,786,628 (GRCm39)	I563V	probably benign	Het
Rfx7	T	C	9: 72,524,795 (GRCm39)	S662P	probably benign	Het
Ric8a	A	G	7: 140,438,806 (GRCm39)	T252A	probably benign	Het
Sbf1	C	T	15: 89,186,062 (GRCm39)	R984H	probably damaging	Het
Sel1l3	G	T	5: 53,332,148 (GRCm39)	Y412*	probably null	Het
Slc17a6	G	A	7: 51,298,908 (GRCm39)	A224T	probably damaging	Het
Slco1a8	A	T	6: 141,933,570 (GRCm39)	V425D	probably benign	Het
Smarca4	T	C	9: 21,550,024 (GRCm39)	I378T	probably damaging	Het
Tatdn1	T	C	15: 58,762,543 (GRCm39)	*265W	probably null	Het
Tcaf2	A	G	6: 42,606,472 (GRCm39)	L494P	probably damaging	Het
Tcl1b2	T	C	12: 105,113,380 (GRCm39)	L11P	probably benign	Het
Thrb	A	G	14: 18,002,558 (GRCm38)	E119G	probably damaging	Het
Tll2	T	C	19: 41,109,814 (GRCm39)	T317A	probably benign	Het
Tob2	AGATGATGA	AGATGA	15: 81,735,928 (GRCm39)		probably benign	Het
Upk1b	A	G	16: 38,607,463 (GRCm39)	L88P	probably damaging	Het
Uri1	T	C	7: 37,661,003 (GRCm39)	I30V		Het
Ush2a	A	T	1: 188,475,816 (GRCm39)	R2918*	probably null	Het
Vax1	T	C	19: 59,158,247 (GRCm39)	D72G	unknown	Het
Vmn2r38	C	A	7: 9,078,482 (GRCm39)	M633I	probably benign	Het
Vmn2r95	A	G	17: 18,671,790 (GRCm39)	D581G	probably benign	Het
Vps13d	A	G	4: 144,813,305 (GRCm39)	F3324L		Het
Xrcc6	C	T	15: 81,911,583 (GRCm39)	L309F	probably damaging	Het
Xrra1	A	G	7: 99,555,761 (GRCm39)	Y376C	probably benign	Het
Zfp329	T	C	7: 12,544,490 (GRCm39)	T345A	possibly damaging	Het
Zfp574	T	A	7: 24,779,816 (GRCm39)	N279K	unknown	Het
Zfp804b	T	C	5: 6,822,635 (GRCm39)	M143V	probably benign	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
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
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'- TTCACGAGCGTCCTCACTAC -3'
(R):5'- GAACAATTCCTGCCAGTTGAC -3'

Sequencing Primer
(F):5'- ACGTAGACCTGCTCCTGC -3'
(R):5'- AGTTGACCTCAAGTTCCGGGTC -3'

Posted On

2021-04-30