Mutagenetix > Incidental Mutation

Incidental Mutation 'R8927:Mrps30'

690176

Institutional Source

Beutler Lab

Gene Symbol

Mrps30

Ensembl Gene

ENSMUSG00000021731

Gene Name

mitochondrial ribosomal protein S30

Synonyms

Pdcd9, 2610020A16Rik

MMRRC Submission

068771-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R8927 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118516646-118523788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118523205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 189 (L189P)

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: L189P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022245
Gene: ENSMUSG00000021731
AA Change: L189P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (78/79)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	A	T	16: 97,867,367 (GRCm39)	H198Q	probably damaging	Het
Abcb9	T	C	5: 124,221,706 (GRCm39)	T223A	probably benign	Het
Actc1	T	A	2: 113,880,881 (GRCm39)	K115*	probably null	Het
Angptl2	G	A	2: 33,132,316 (GRCm39)	D308N	probably benign	Het
Arl4d	A	C	11: 101,557,892 (GRCm39)	Q139H	possibly damaging	Het
Aspm	T	A	1: 139,418,125 (GRCm39)	C2951*	probably null	Het
Atp23	A	T	10: 126,723,362 (GRCm39)	*247R	probably null	Het
B3gnt7	T	A	1: 86,232,839 (GRCm39)	S28R	probably benign	Het
Bmp7	C	T	2: 172,721,211 (GRCm39)	R288H	probably damaging	Het
Bsdc1	G	T	4: 129,355,439 (GRCm39)		probably benign	Het
Capn13	T	C	17: 73,631,761 (GRCm39)		probably null	Het
Ccdc146	T	C	5: 21,538,060 (GRCm39)	E88G	probably damaging	Het
Ccdc73	C	A	2: 104,822,542 (GRCm39)	D2E		Het
Cdc5l	C	A	17: 45,721,839 (GRCm39)	R477L		Het
Cdh22	T	A	2: 164,965,504 (GRCm39)	H529L	possibly damaging	Het
Chchd3	T	A	6: 32,780,951 (GRCm39)	E178D	probably benign	Het
Ciz1	A	T	2: 32,257,512 (GRCm39)	R186*	probably null	Het
Col4a2	A	G	8: 11,475,543 (GRCm39)		probably null	Het
Copa	T	A	1: 171,931,737 (GRCm39)	H329Q	probably null	Het
Dcaf7	A	G	11: 105,942,752 (GRCm39)	D233G	probably damaging	Het
Dclk2	G	T	3: 86,739,048 (GRCm39)	P317Q	probably damaging	Het
Dgat2	T	C	7: 98,818,710 (GRCm39)	Y90C	probably benign	Het
Dsc3	A	T	18: 20,107,234 (GRCm39)	H462Q	probably benign	Het
Fam151a	T	A	4: 106,603,242 (GRCm39)		probably benign	Het
Fn1	T	C	1: 71,638,535 (GRCm39)	N1998S	probably benign	Het
Fpr2	T	C	17: 18,113,724 (GRCm39)	L240S	possibly damaging	Het
Fzd9	A	T	5: 135,278,589 (GRCm39)	M432K	probably damaging	Het
Gm5862	T	A	5: 26,226,678 (GRCm39)	I75F	probably damaging	Het
Gpr45	T	A	1: 43,072,314 (GRCm39)	V319D	probably damaging	Het
H4c11	T	C	13: 21,919,525 (GRCm39)	V87A	possibly damaging	Het
Igfn1	T	A	1: 135,905,984 (GRCm39)	R275W	probably damaging	Het
Inafm1	G	A	7: 16,006,980 (GRCm39)	A79V	unknown	Het
Itfg1	C	T	8: 86,567,420 (GRCm39)		probably benign	Het
Kcnt2	T	A	1: 140,356,535 (GRCm39)		probably null	Het
Klhl35	T	G	7: 99,120,221 (GRCm39)	I366S	probably damaging	Het
Lysmd1	A	T	3: 95,045,831 (GRCm39)	I223F	probably damaging	Het
Ms4a4d	A	C	19: 11,533,574 (GRCm39)	T152P	probably benign	Het
Mtcl1	A	T	17: 66,755,628 (GRCm39)	I238K	probably benign	Het
Musk	T	C	4: 58,301,638 (GRCm39)	I132T	probably damaging	Het
Myh2	A	T	11: 67,079,509 (GRCm39)	M989L	probably benign	Het
Myh8	G	A	11: 67,174,081 (GRCm39)	R172H	probably benign	Het
Nt5c1a	C	T	4: 123,102,281 (GRCm39)	T69M	possibly damaging	Het
Nuak2	T	A	1: 132,255,916 (GRCm39)	D196E	probably damaging	Het
Or52h7	A	T	7: 104,214,229 (GRCm39)	H267L	probably damaging	Het
Or5ap2	A	T	2: 85,679,918 (GRCm39)	I41F	possibly damaging	Het
Or5t7	T	C	2: 86,507,630 (GRCm39)	T16A	probably benign	Het
Or8k53	T	C	2: 86,178,090 (GRCm39)	T7A	possibly damaging	Het
Or8s10	A	G	15: 98,336,519 (GRCm39)		probably benign	Het
Palb2	A	T	7: 121,723,821 (GRCm39)	C643S	probably damaging	Het
Pde5a	T	A	3: 122,633,249 (GRCm39)	I706N	probably damaging	Het
Pdlim4	T	C	11: 53,950,790 (GRCm39)	R100G	probably benign	Het
Pip5k1c	T	A	10: 81,128,906 (GRCm39)	V5E	possibly damaging	Het
Pira1	A	C	7: 3,742,358 (GRCm39)	N56K	probably benign	Het
Plekhm1	A	G	11: 103,268,039 (GRCm39)	V644A	probably benign	Het
Plk2	T	G	13: 110,535,750 (GRCm39)	V524G	probably damaging	Het
Ppl	T	A	16: 4,905,474 (GRCm39)	N1607I	probably benign	Het
Prag1	T	G	8: 36,614,360 (GRCm39)	V1304G	probably damaging	Het
Prex1	C	T	2: 166,426,995 (GRCm39)	V1077M	probably damaging	Het
Prmt6	T	C	3: 110,158,248 (GRCm39)	S14G	probably benign	Het
Psrc1	T	G	3: 108,293,973 (GRCm39)	S263R	probably damaging	Het
Qrfprl	C	A	6: 65,358,597 (GRCm39)	S107*	probably null	Het
Rbp7	A	T	4: 149,537,958 (GRCm39)	L36*	probably null	Het
Rgs12	G	T	5: 35,123,633 (GRCm39)	W472L	possibly damaging	Het
Rrp8	C	A	7: 105,384,073 (GRCm39)	C143F	possibly damaging	Het
Sart1	T	C	19: 5,438,529 (GRCm39)	S43G	probably benign	Het
Setx	A	G	2: 29,016,971 (GRCm39)	T25A	possibly damaging	Het
Skint5	G	A	4: 113,341,099 (GRCm39)	T1414I	probably benign	Het
Sorbs2	T	A	8: 46,248,952 (GRCm39)	S734R	probably damaging	Het
Spata31g1	A	T	4: 42,972,251 (GRCm39)	Y528F	probably benign	Het
Spon1	T	C	7: 113,629,592 (GRCm39)		probably null	Het
Sptbn1	C	T	11: 30,088,962 (GRCm39)	V767I	probably damaging	Het
Srf	T	C	17: 46,860,095 (GRCm39)	I477V	probably damaging	Het
Tanc2	A	G	11: 105,701,331 (GRCm39)	Y282C	probably damaging	Het
Tbc1d23	A	G	16: 56,992,152 (GRCm39)	Y603H	probably damaging	Het
Tdpoz6	T	A	3: 93,599,950 (GRCm39)	T140S	probably benign	Het
Tfap4	T	C	16: 4,369,218 (GRCm39)	D134G	probably damaging	Het
Tmem200c	A	G	17: 69,148,733 (GRCm39)	T439A	probably benign	Het
Tmem63b	A	T	17: 45,975,908 (GRCm39)	M515K	probably damaging	Het
Tnc	A	T	4: 63,925,595 (GRCm39)	N980K	probably damaging	Het
Ttc23l	T	A	15: 10,530,720 (GRCm39)	L297F	probably damaging	Het
Vinac1	A	G	2: 128,882,789 (GRCm39)	S76P		Het
Vmn1r170	A	G	7: 23,305,814 (GRCm39)	N72S	possibly damaging	Het
Vmn2r8	T	C	5: 108,950,131 (GRCm39)	M239V		Het
Vopp1	A	G	6: 57,731,578 (GRCm39)	F138L	probably damaging	Het
Vps41	T	A	13: 18,929,501 (GRCm39)	F79I	probably benign	Het
Zfp317	T	C	9: 19,552,521 (GRCm39)	M1T	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
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
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'- TGAGCTTCGGGTGAGACTAAAC -3'
(R):5'- CACCAAGACCGTGTTTGTCTCG -3'

Sequencing Primer
(F):5'- GCTTCGGGTGAGACTAAACTTTAAC -3'
(R):5'- GTTTGTCTCGGGCCTGCC -3'

Posted On

2021-11-19