Mutagenetix > Incidental Mutation

Incidental Mutation 'R7720:Mrps27'

595189

Institutional Source

Beutler Lab

Gene Symbol

Mrps27

Ensembl Gene

ENSMUSG00000041632

Gene Name

mitochondrial ribosomal protein S27

Synonyms

2610028H14Rik

MMRRC Submission

067892-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R7720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99481294-99552070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99537838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 153 (T153S)

Ref Sequence

ENSEMBL: ENSMUSP00000156296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052249] [ENSMUST00000224660]

AlphaFold

Q8BK72

Predicted Effect

probably benign
Transcript: ENSMUST00000052249

SMART Domains

Protein: ENSMUSP00000062326
Gene: ENSMUSG00000041632

Domain	Start	End	E-Value	Type
Pfam:MRP-S27	1	413	8.3e-156	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000224660
AA Change: T153S

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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 may be a functional partner of the death associated protein 3 (DAP3). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	A	G	10: 126,926,957 (GRCm39)	D1018G	probably damaging	Het
Atm	T	C	9: 53,433,539 (GRCm39)	N237S	possibly damaging	Het
Card6	G	T	15: 5,127,905 (GRCm39)	Q1164K	unknown	Het
Ccdc202	A	G	14: 96,119,548 (GRCm39)	R102G	probably benign	Het
Cped1	G	A	6: 22,222,430 (GRCm39)	C730Y	probably damaging	Het
Csmd1	A	T	8: 15,981,108 (GRCm39)	L2770Q	probably damaging	Het
Ctsw	T	C	19: 5,517,072 (GRCm39)	T87A	probably damaging	Het
Dock4	T	C	12: 40,856,974 (GRCm39)	I1269T	probably damaging	Het
F11	T	C	8: 45,705,127 (GRCm39)	E138G	possibly damaging	Het
Fam124b	A	G	1: 80,177,974 (GRCm39)	S342P	probably damaging	Het
Garin2	T	C	12: 78,758,907 (GRCm39)	S76P	probably damaging	Het
Gipr	T	C	7: 18,896,884 (GRCm39)	I129V	probably benign	Het
Gria4	A	T	9: 4,464,288 (GRCm39)	V558D	probably damaging	Het
Gsdme	C	T	6: 50,206,288 (GRCm39)	G185E	probably damaging	Het
Hapstr1	T	A	16: 8,660,966 (GRCm39)	C148S	probably damaging	Het
Hgd	T	A	16: 37,413,797 (GRCm39)	D86E	probably benign	Het
Hmcn1	T	A	1: 150,522,460 (GRCm39)	H3480L	probably benign	Het
Hs2st1	T	C	3: 144,159,783 (GRCm39)	N127D	probably damaging	Het
Ilf3	A	G	9: 21,310,833 (GRCm39)	N599S	possibly damaging	Het
Itsn1	G	A	16: 91,664,971 (GRCm39)	G1132R	unknown	Het
Jakmip2	A	G	18: 43,704,973 (GRCm39)	S343P	possibly damaging	Het
Kif1b	A	G	4: 149,266,812 (GRCm39)	V1670A	probably benign	Het
Lman2	A	T	13: 55,500,890 (GRCm39)		probably null	Het
Ltbp1	A	T	17: 75,692,119 (GRCm39)	Y1579F	probably damaging	Het
Mon2	G	A	10: 122,868,493 (GRCm39)	A520V	probably benign	Het
Mrpl10	T	G	11: 96,938,363 (GRCm39)	V171G	possibly damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Nlrp10	A	G	7: 108,523,695 (GRCm39)	V595A	probably benign	Het
Nol4	A	T	18: 23,173,080 (GRCm39)	M7K	probably benign	Het
Oasl1	G	A	5: 115,067,980 (GRCm39)	S188N	probably damaging	Het
Or2d3c	C	A	7: 106,526,618 (GRCm39)	G16V	probably benign	Het
Or5h25	T	C	16: 58,930,134 (GRCm39)	I280V	probably benign	Het
Pcdhga2	A	G	18: 37,802,993 (GRCm39)	Y279C	probably damaging	Het
Pfpl	C	T	19: 12,406,538 (GRCm39)	A263V	probably benign	Het
Phf3	T	G	1: 30,868,938 (GRCm39)	K703N	probably damaging	Het
Pik3ca	C	G	3: 32,490,367 (GRCm39)	P5A	probably damaging	Het
Plekha6	T	C	1: 133,221,445 (GRCm39)	V987A	probably damaging	Het
Ppp3ca	T	A	3: 136,596,250 (GRCm39)	I305N	probably damaging	Het
Prex2	A	G	1: 11,252,161 (GRCm39)	K1069E	possibly damaging	Het
Prss50	T	C	9: 110,690,403 (GRCm39)	V182A	probably damaging	Het
Ptprg	A	G	14: 12,211,703 (GRCm38)	N995S	probably benign	Het
Robo2	C	A	16: 73,693,903 (GRCm39)	G1375V	probably benign	Het
Rtl1	T	C	12: 109,560,864 (GRCm39)	Y325C	possibly damaging	Het
Semp2l1	T	C	1: 32,585,178 (GRCm39)	D244G	probably benign	Het
Shcbp1	A	C	8: 4,798,720 (GRCm39)	S400A	probably damaging	Het
Shfl	C	T	9: 20,780,155 (GRCm39)		probably benign	Het
Sirpb1c	T	A	3: 15,886,236 (GRCm39)	Y380F	probably benign	Het
Tbl2	G	C	5: 135,188,329 (GRCm39)	L374F	probably damaging	Het
Tpr	C	A	1: 150,305,283 (GRCm39)	A1524E	possibly damaging	Het
Vmn2r45	T	A	7: 8,486,460 (GRCm39)	E276V	probably damaging	Het
Vps16	C	T	2: 130,283,623 (GRCm39)	Q606*	probably null	Het
Vstm5	A	T	9: 15,150,652 (GRCm39)	Q29L	probably benign	Het
Wipi1	G	T	11: 109,473,249 (GRCm39)	S250Y	probably damaging	Het

Other mutations in Mrps27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01666:Mrps27	APN	13	99,546,324 (GRCm39)	missense	probably damaging	1.00
IGL01685:Mrps27	APN	13	99,551,428 (GRCm39)	missense	possibly damaging	0.52
P0043:Mrps27	UTSW	13	99,548,754 (GRCm39)	missense	probably benign
R0122:Mrps27	UTSW	13	99,501,736 (GRCm39)	missense	probably benign	0.13
R0502:Mrps27	UTSW	13	99,546,303 (GRCm39)	splice site	probably benign
R0503:Mrps27	UTSW	13	99,546,303 (GRCm39)	splice site	probably benign
R0611:Mrps27	UTSW	13	99,541,582 (GRCm39)	missense	probably damaging	1.00
R1540:Mrps27	UTSW	13	99,541,558 (GRCm39)	missense	probably benign	0.17
R2566:Mrps27	UTSW	13	99,536,836 (GRCm39)	nonsense	probably null
R4227:Mrps27	UTSW	13	99,547,848 (GRCm39)	missense	probably damaging	1.00
R4235:Mrps27	UTSW	13	99,541,549 (GRCm39)	missense	probably damaging	1.00
R4715:Mrps27	UTSW	13	99,551,323 (GRCm39)	splice site	probably null
R4761:Mrps27	UTSW	13	99,548,739 (GRCm39)	missense	probably benign	0.10
R5114:Mrps27	UTSW	13	99,547,973 (GRCm39)	unclassified	probably benign
R5294:Mrps27	UTSW	13	99,546,381 (GRCm39)	missense	probably damaging	1.00
R6241:Mrps27	UTSW	13	99,548,754 (GRCm39)	missense	probably benign
R6387:Mrps27	UTSW	13	99,536,825 (GRCm39)	missense	possibly damaging	0.80
R6491:Mrps27	UTSW	13	99,499,538 (GRCm39)	missense	probably damaging	1.00
R6992:Mrps27	UTSW	13	99,541,522 (GRCm39)	missense	probably benign	0.16
R7165:Mrps27	UTSW	13	99,551,307 (GRCm39)	missense	possibly damaging	0.89
R7241:Mrps27	UTSW	13	99,547,788 (GRCm39)	nonsense	probably null
R7709:Mrps27	UTSW	13	99,541,504 (GRCm39)	missense	probably benign	0.21
R8706:Mrps27	UTSW	13	99,541,508 (GRCm39)	missense	probably damaging	1.00
Z1177:Mrps27	UTSW	13	99,551,351 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- CCAGACTTTGAAAATCAGAGTTCAGTC -3'
(R):5'- TTGAGACTGCAGCTCTGAGC -3'

Sequencing Primer
(F):5'- TCTCTGTGAAGAATGATTTTCATCTG -3'
(R):5'- ACTGCAGCTCTGAGCCTTGAC -3'

Posted On

2019-11-12