Mutagenetix > Incidental Mutation

Incidental Mutation 'R4231:Mrps30'

320874

Institutional Source

Beutler Lab

Gene Symbol

Mrps30

Ensembl Gene

ENSMUSG00000021731

Gene Name

mitochondrial ribosomal protein S30

Synonyms

Pdcd9, 2610020A16Rik

MMRRC Submission

041050-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R4231 (G1)

Quality Score

158

Status

Validated

Chromosome

Chromosomal Location

118516646-118523788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118523376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 132 (D132G)

Ref Sequence

ENSEMBL: ENSMUSP00000022245 (fasta)

Gene Model

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

AlphaFold

Q9D0G0

Predicted Effect

probably damaging
Transcript: ENSMUST00000022245
AA Change: D132G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022245
Gene: ENSMUSG00000021731
AA Change: D132G

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

Predicted Effect

unknown
Transcript: ENSMUST00000181168
AA Change: S13P

SMART Domains

Protein: ENSMUSP00000137680
Gene: ENSMUSG00000097411
AA Change: S13P

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

Meta Mutation Damage Score

0.4820

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

99% (75/76)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 69,438,135 (GRCm39)	A53T	probably benign	Het
Ajuba	T	C	14: 54,806,983 (GRCm39)	R490G	probably damaging	Het
Akap6	A	T	12: 53,187,821 (GRCm39)	D1745V	probably damaging	Het
Aldh5a1	C	T	13: 25,095,636 (GRCm39)	G494R	probably damaging	Het
Ankar	T	C	1: 72,697,701 (GRCm39)	D1034G	probably benign	Het
Aox3	T	A	1: 58,154,044 (GRCm39)	N23K	probably benign	Het
Arhgef18	T	C	8: 3,500,317 (GRCm39)	I541T	possibly damaging	Het
Atg14	T	C	14: 47,788,802 (GRCm39)	K184E	probably benign	Het
Bltp1	C	T	3: 36,974,385 (GRCm39)	T663I	probably benign	Het
Cacnb2	A	G	2: 14,986,251 (GRCm39)	K343E	probably damaging	Het
Casp8	T	C	1: 58,883,929 (GRCm39)	V432A	probably damaging	Het
Cd93	A	T	2: 148,284,880 (GRCm39)	H155Q	probably benign	Het
Cox6b2	T	C	7: 4,755,834 (GRCm39)	M1V	probably null	Het
Crat	T	C	2: 30,303,023 (GRCm39)	E88G	possibly damaging	Het
Ddx1	C	T	12: 13,273,858 (GRCm39)	V590I	possibly damaging	Het
Dip2a	G	A	10: 76,155,304 (GRCm39)	P94S	probably damaging	Het
Dtx3	A	G	10: 127,029,058 (GRCm39)	I60T	possibly damaging	Het
Filip1l	T	C	16: 57,327,131 (GRCm39)	S54P	probably benign	Het
Gm12887	A	T	4: 121,479,299 (GRCm39)	M1K	probably null	Het
Gm26678	T	C	3: 54,540,504 (GRCm39)		noncoding transcript	Het
Impg1	A	G	9: 80,252,611 (GRCm39)	L523P	probably damaging	Het
Insyn2b	A	T	11: 34,353,143 (GRCm39)	E395V	probably benign	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Irak2	A	G	6: 113,667,817 (GRCm39)	E466G	probably damaging	Het
Irgm2	C	T	11: 58,110,304 (GRCm39)		probably benign	Het
Jak3	T	A	8: 72,138,189 (GRCm39)	V880D	probably damaging	Het
Jmy	G	T	13: 93,635,433 (GRCm39)	P128T	probably benign	Het
Kif20a	A	G	18: 34,765,091 (GRCm39)	N775S	probably benign	Het
Kremen1	G	A	11: 5,193,881 (GRCm39)	Q50*	probably null	Het
Lrrc71	A	G	3: 87,648,298 (GRCm39)	I438T	probably benign	Het
Map3k1	T	C	13: 111,905,028 (GRCm39)	T374A	probably benign	Het
Med12l	T	G	3: 59,164,644 (GRCm39)		probably null	Het
Mta1	T	C	12: 113,099,447 (GRCm39)	M603T	possibly damaging	Het
Myo5a	A	G	9: 75,097,279 (GRCm39)	N1319S	possibly damaging	Het
Nalcn	T	A	14: 123,837,325 (GRCm39)	Q13L	probably benign	Het
Nbas	A	G	12: 13,443,344 (GRCm39)	N1133S	probably damaging	Het
Nsun2	A	G	13: 69,767,660 (GRCm39)	N205D	probably damaging	Het
Nxpe4	A	T	9: 48,310,137 (GRCm39)	T467S	probably damaging	Het
Or13a20	T	C	7: 140,232,653 (GRCm39)	Y254H	probably damaging	Het
Or4f17-ps1	C	T	2: 111,358,546 (GRCm39)	R314C	probably damaging	Het
Or7g30	T	A	9: 19,352,886 (GRCm39)	L226I	probably damaging	Het
Pam	A	G	1: 97,811,849 (GRCm39)		probably null	Het
Pcdh7	G	A	5: 57,876,631 (GRCm39)	G62D	possibly damaging	Het
Plxna2	C	T	1: 194,326,762 (GRCm39)	T232I	probably damaging	Het
Prkar1b	A	G	5: 139,094,376 (GRCm39)	S71P	probably benign	Het
Ptprq	A	T	10: 107,522,144 (GRCm39)	Y602*	probably null	Het
Rfx4	A	T	10: 84,650,558 (GRCm39)	M84L	probably benign	Het
Rfx7	A	T	9: 72,526,672 (GRCm39)	E1287D	possibly damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf216	A	T	5: 143,078,845 (GRCm39)	S35T	probably damaging	Het
Rps6kc1	A	G	1: 190,541,097 (GRCm39)	V402A	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sart3	A	G	5: 113,909,479 (GRCm39)	M73T	probably benign	Het
Scn10a	G	T	9: 119,460,610 (GRCm39)	T1088K	probably damaging	Het
Senp2	T	C	16: 21,830,304 (GRCm39)		probably null	Het
Setd7	T	C	3: 51,450,151 (GRCm39)	N92D	probably benign	Het
Sipa1	A	T	19: 5,704,117 (GRCm39)	L735Q	probably damaging	Het
Skint11	C	A	4: 114,101,856 (GRCm39)	Q99K	probably benign	Het
Slitrk6	A	T	14: 110,988,820 (GRCm39)	S296T	probably benign	Het
Spc24	T	C	9: 21,667,498 (GRCm39)		probably null	Het
Tex15	T	C	8: 34,062,165 (GRCm39)	S806P	probably damaging	Het
Tgm3	A	T	2: 129,886,509 (GRCm39)	K577*	probably null	Het
Wscd2	A	G	5: 113,699,045 (GRCm39)	D200G	probably benign	Het
Xpo6	T	C	7: 125,773,354 (GRCm39)	T24A	possibly damaging	Het
Zfhx2	A	G	14: 55,310,991 (GRCm39)	C568R	possibly damaging	Het
Zfp599	T	A	9: 22,161,041 (GRCm39)	K375*	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
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
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'- AACCTGCAGGAAAGCTTGGC -3'
(R):5'- ATTGTCCCAGAATGCCGCTG -3'

Sequencing Primer
(F):5'- TGGGAGTTCCAAGCTCACC -3'
(R):5'- TCCCAGAATGCCGCTGCTAAG -3'

Posted On

2015-06-12