Mutagenetix > Incidental Mutations

Incidental Mutation 'R0485:Mrps5'

42181

Institutional Source

Beutler Lab

Gene Symbol

Mrps5

Ensembl Gene

ENSMUSG00000027374

Gene Name

mitochondrial ribosomal protein S5

Synonyms

MMRRC Submission

038684-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0485 (G1)

Quality Score

143

Status

Validated

Chromosome

Chromosomal Location

127587222-127606829 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127591825 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 45 (S45T)

Ref Sequence

ENSEMBL: ENSMUSP00000119674 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028852] [ENSMUST00000110366] [ENSMUST00000146131]

Predicted Effect

probably benign
Transcript: ENSMUST00000028852
AA Change: S53T

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000028852
Gene: ENSMUSG00000027374
AA Change: S53T

Domain	Start	End	E-Value	Type
low complexity region	108	126	N/A	INTRINSIC
Pfam:Ribosomal_S5	220	285	3.5e-20	PFAM
Pfam:Ribosomal_S5_C	297	368	4.7e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110366

SMART Domains

Protein: ENSMUSP00000105995
Gene: ENSMUSG00000034800

Domain	Start	End	E-Value	Type
KRAB	14	74	1.33e-28	SMART
ZnF_C2H2	169	191	1.12e-3	SMART
ZnF_C2H2	197	219	6.42e-4	SMART
ZnF_C2H2	225	247	7.37e-4	SMART
ZnF_C2H2	253	275	9.22e-5	SMART
ZnF_C2H2	281	303	9.73e-4	SMART
ZnF_C2H2	309	331	1.04e-3	SMART
ZnF_C2H2	337	359	5.67e-5	SMART
ZnF_C2H2	365	387	5.99e-4	SMART
ZnF_C2H2	393	413	4.94e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134101

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146131
AA Change: S45T

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119674
Gene: ENSMUSG00000027374
AA Change: S45T

Domain	Start	End	E-Value	Type
low complexity region	100	118	N/A	INTRINSIC

Meta Mutation Damage Score

0.1126

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.4%

Validation Efficiency

100% (95/95)

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 belongs to the ribosomal protein S5P family. Pseudogenes corresponding to this gene are found on chromosomes 4q, 5q, and 18q. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	A	G	16: 3,907,647	V5A	probably damaging	Het
Abi3bp	A	G	16: 56,604,012		probably null	Het
Acot11	G	A	4: 106,762,027	R184C	probably damaging	Het
Adgre5	A	T	8: 83,731,998	I133N	probably damaging	Het
Afap1	A	T	5: 35,951,003	Q231L	probably damaging	Het
Alg12	T	C	15: 88,811,427	T289A	probably benign	Het
Ank3	T	A	10: 69,882,544	S542T	possibly damaging	Het
Ankmy2	G	A	12: 36,182,390	R138Q	possibly damaging	Het
Ascc2	C	T	11: 4,672,302	A456V	probably benign	Het
Atg4c	G	A	4: 99,224,482	V289I	probably benign	Het
Bbs7	A	T	3: 36,602,873	Y269N	probably damaging	Het
Bcas3	T	A	11: 85,495,850	D370E	probably damaging	Het
Bicc1	T	G	10: 70,925,315	E955A	probably damaging	Het
Bok	T	C	1: 93,689,277	F115S	probably damaging	Het
Caap1	A	T	4: 94,550,521		probably null	Het
Cacna2d3	T	A	14: 29,534,519	M95L	possibly damaging	Het
Calcrl	T	A	2: 84,370,091	D115V	probably benign	Het
Car7	A	T	8: 104,543,538	M57L	probably benign	Het
Casq1	G	T	1: 172,210,390		probably benign	Het
Cep290	A	T	10: 100,549,344	D1894V	possibly damaging	Het
Clec4a2	T	A	6: 123,123,629	N14K	probably damaging	Het
Col16a1	G	T	4: 130,090,497		probably benign	Het
Col5a1	T	C	2: 27,990,097		probably benign	Het
Col5a2	A	T	1: 45,378,482	I1311N	probably damaging	Het
Col5a3	T	C	9: 20,782,708	T1050A	probably damaging	Het
Colgalt2	A	T	1: 152,484,871	I220F	probably damaging	Het
Cpb1	A	T	3: 20,275,628	V8E	unknown	Het
Dchs1	C	T	7: 105,772,727	R162H	probably benign	Het
Dhx37	A	G	5: 125,422,231	Y638H	probably benign	Het
Dhx40	T	G	11: 86,771,262		probably benign	Het
Ehd2	T	A	7: 15,952,076	Q357L	probably benign	Het
Ewsr1	T	C	11: 5,070,737		probably benign	Het
Fcho1	C	T	8: 71,712,560	A418T	probably benign	Het
Gid8	T	A	2: 180,713,211	Y3*	probably null	Het
Gm10212	A	C	19: 11,570,810		noncoding transcript	Het
Gm4763	C	A	7: 24,722,745	C193F	possibly damaging	Het
Gm597	G	T	1: 28,778,142	Q270K	probably damaging	Het
Gm960	A	T	19: 4,658,414	I350N	probably damaging	Het
Grin3b	T	A	10: 79,974,056	N465K	possibly damaging	Het
Hist1h1d	A	T	13: 23,555,750	K221*	probably null	Het
Htr4	A	T	18: 62,428,154	N162I	probably damaging	Het
Itga3	T	C	11: 95,061,970	D325G	probably benign	Het
Itpr3	T	G	17: 27,111,929	V1737G	probably damaging	Het
Kcnab2	C	T	4: 152,394,982	V251I	probably benign	Het
Kcnn2	A	T	18: 45,560,148	I264L	probably benign	Het
Klhl41	T	C	2: 69,671,256	Y354H	probably damaging	Het
Klra6	T	C	6: 130,023,638	I68V	probably benign	Het
Letm2	G	T	8: 25,592,558	P178Q	probably damaging	Het
Lrmp	T	C	6: 145,165,212	C248R	probably damaging	Het
Mbtps1	A	T	8: 119,522,601		probably benign	Het
Mecom	C	T	3: 29,980,972		probably benign	Het
Msra	T	A	14: 64,440,761	I29F	possibly damaging	Het
Mup5	T	C	4: 61,832,992		probably null	Het
Myo1a	T	C	10: 127,719,242		probably benign	Het
Myrip	C	A	9: 120,441,377	N564K	probably benign	Het
Naa20	T	A	2: 145,915,672	D148E	probably damaging	Het
Naga	T	G	15: 82,336,755		probably benign	Het
Npc1	A	G	18: 12,213,446	V231A	probably benign	Het
Nphs1	T	C	7: 30,467,515	F716L	probably benign	Het
Olfr284	T	C	15: 98,340,929	H20R	probably benign	Het
Parn	G	C	16: 13,654,435		probably benign	Het
Polk	A	T	13: 96,483,764	C664S	probably benign	Het
Prkar2b	A	G	12: 31,976,035		probably benign	Het
Prkdc	A	G	16: 15,833,740	E3747G	probably damaging	Het
Prmt5	A	T	14: 54,511,255	M362K	probably damaging	Het
Prob1	T	C	18: 35,653,825	T459A	possibly damaging	Het
Rttn	C	T	18: 89,090,419		probably benign	Het
Scn1a	T	C	2: 66,273,925	M1664V	probably damaging	Het
Sez6	T	A	11: 77,953,813	L154H	probably damaging	Het
Sh3tc1	A	G	5: 35,702,012		probably benign	Het
Shkbp1	C	T	7: 27,348,581	G334D	probably damaging	Het
Slc8a1	A	T	17: 81,647,993	F539I	probably damaging	Het
Sptan1	T	C	2: 30,013,848		probably benign	Het
Ssc5d	C	T	7: 4,937,471	T861M	probably damaging	Het
Tbx5	A	T	5: 119,883,458	M510L	probably benign	Het
Tdp1	A	G	12: 99,909,842	T351A	probably benign	Het
Tmc8	T	A	11: 117,792,078		probably benign	Het
Tmco5	T	A	2: 116,890,107	D205E	probably benign	Het
Tmprss2	T	C	16: 97,571,994		probably benign	Het
Tph1	T	A	7: 46,650,024	K364N	probably benign	Het
Trim24	T	C	6: 37,957,066	L648P	probably damaging	Het
Trmt6	C	A	2: 132,809,030		probably benign	Het
Ube2i	A	T	17: 25,269,285		probably benign	Het
Vcan	A	C	13: 89,704,660	L727R	possibly damaging	Het
Vmn2r28	T	C	7: 5,488,690	Y186C	probably damaging	Het
Wars	C	A	12: 108,875,157	D232Y	probably damaging	Het
Xrcc5	T	C	1: 72,338,945		probably benign	Het
Zbtb24	T	A	10: 41,464,536	S543T	probably damaging	Het
Zfp91	A	G	19: 12,775,989		probably benign	Het

Other mutations in Mrps5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01968:Mrps5	APN	2	127591907	missense	probably null	0.01
IGL03348:Mrps5	APN	2	127601385	missense	probably damaging	0.98
R0369:Mrps5	UTSW	2	127591829	missense	probably benign	0.09
R0622:Mrps5	UTSW	2	127594531	missense	probably benign	0.00
R1954:Mrps5	UTSW	2	127596897	splice site	probably null
R2182:Mrps5	UTSW	2	127602487	missense	probably damaging	1.00
R3414:Mrps5	UTSW	2	127596912	missense	probably benign	0.38
R4007:Mrps5	UTSW	2	127591835	missense	possibly damaging	0.81
R4687:Mrps5	UTSW	2	127590770	missense	probably benign	0.44
R4780:Mrps5	UTSW	2	127598241	missense	probably benign	0.00
R4835:Mrps5	UTSW	2	127603707	missense	possibly damaging	0.84
R4851:Mrps5	UTSW	2	127590745	missense	probably benign	0.00
R5076:Mrps5	UTSW	2	127600852	nonsense	probably null
R5558:Mrps5	UTSW	2	127602435	missense	probably damaging	1.00
R6192:Mrps5	UTSW	2	127601385	missense	probably damaging	0.98
R7038:Mrps5	UTSW	2	127600866	missense	probably damaging	1.00
R7071:Mrps5	UTSW	2	127600852	nonsense	probably null
R7103:Mrps5	UTSW	2	127601410	missense	probably damaging	0.99
R7177:Mrps5	UTSW	2	127595697	missense	probably benign
R7319:Mrps5	UTSW	2	127595842	missense	possibly damaging	0.94
R7387:Mrps5	UTSW	2	127600884	missense	probably damaging	1.00
R7460:Mrps5	UTSW	2	127591891	missense	not run
R8211:Mrps5	UTSW	2	127603724	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCAGCTCTGTAACTAGCAGAGACAT -3'
(R):5'- GGGGTGGCTATATCAAGGAATGCTTTTA -3'

Sequencing Primer
(F):5'- agccacctctcctgccc -3'
(R):5'- ACAAACACATTCCATTTTCTGGTTC -3'

Posted On

2013-05-23