Mutagenetix > Incidental Mutation

Incidental Mutation 'R4008:Mrps18c'

311564

Institutional Source

Beutler Lab

Gene Symbol

Mrps18c

Ensembl Gene

ENSMUSG00000016833

Gene Name

mitochondrial ribosomal protein S18C

Synonyms

1110037D14Rik

MMRRC Submission

040946-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4008 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100946625-100952333 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 100950982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016977] [ENSMUST00000044535] [ENSMUST00000044684] [ENSMUST00000055245] [ENSMUST00000112898] [ENSMUST00000112901] [ENSMUST00000117364] [ENSMUST00000198453] [ENSMUST00000151201] [ENSMUST00000200657] [ENSMUST00000153302]

AlphaFold

Q8R2L5

Predicted Effect

probably benign
Transcript: ENSMUST00000016977

SMART Domains

Protein: ENSMUSP00000016977
Gene: ENSMUSG00000016833

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S18	70	121	1.9e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000044535

Predicted Effect

probably benign
Transcript: ENSMUST00000044684

SMART Domains

Protein: ENSMUSP00000041599
Gene: ENSMUSG00000035266

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
DEXDc	291	486	3.05e-17	SMART
HELICc	585	671	2.54e-14	SMART
low complexity region	812	827	N/A	INTRINSIC
low complexity region	881	892	N/A	INTRINSIC
low complexity region	1029	1042	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000055245

SMART Domains

Protein: ENSMUSP00000055895
Gene: ENSMUSG00000035234

Domain	Start	End	E-Value	Type
coiled coil region	210	261	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112898

Predicted Effect

probably benign
Transcript: ENSMUST00000112901

SMART Domains

Protein: ENSMUSP00000108522
Gene: ENSMUSG00000016833

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S18	67	119	9.6e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117364

SMART Domains

Protein: ENSMUSP00000114050
Gene: ENSMUSG00000035234

Domain	Start	End	E-Value	Type
coiled coil region	210	261	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198453

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197084

Predicted Effect

probably benign
Transcript: ENSMUST00000151201

SMART Domains

Protein: ENSMUSP00000118493
Gene: ENSMUSG00000035266

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200657

SMART Domains

Protein: ENSMUSP00000143465
Gene: ENSMUSG00000035234

Domain	Start	End	E-Value	Type
coiled coil region	210	261	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133845

SMART Domains

Protein: ENSMUSP00000116470
Gene: ENSMUSG00000035266

Domain	Start	End	E-Value	Type
low complexity region	6	18	N/A	INTRINSIC
DEXDc	290	485	3.05e-17	SMART
HELICc	584	670	2.54e-14	SMART
low complexity region	811	826	N/A	INTRINSIC
low complexity region	932	945	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153302

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

Validation Efficiency

97% (32/33)

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 S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 8p, 12p, 15q, and 22q. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,399,548 (GRCm39)	L529Q	probably damaging	Het
Adsl	T	C	15: 80,850,357 (GRCm39)	S359P	probably benign	Het
Batf2	G	A	19: 6,221,378 (GRCm39)	E63K	probably damaging	Het
Chd1l	A	T	3: 97,477,718 (GRCm39)	M679K	probably benign	Het
Clvs2	G	A	10: 33,419,458 (GRCm39)	H199Y	probably damaging	Het
F830045P16Rik	A	T	2: 129,305,467 (GRCm39)	N302K	probably damaging	Het
H2-K2	G	A	17: 34,218,525 (GRCm39)		probably benign	Het
Ifit2	G	T	19: 34,551,445 (GRCm39)	M328I	probably benign	Het
Larp7	T	C	3: 127,334,519 (GRCm39)	D490G	probably benign	Het
Map9	T	C	3: 82,266,390 (GRCm39)	Y12H	probably damaging	Het
Mn1	G	T	5: 111,568,035 (GRCm39)	E668D	probably benign	Het
Npdc1	T	A	2: 25,298,992 (GRCm39)	Y237*	probably null	Het
Oprm1	A	G	10: 6,782,520 (GRCm39)	M388V	probably benign	Het
Or10ag57	A	T	2: 87,218,924 (GRCm39)	I292F	possibly damaging	Het
Or4n5	A	G	14: 50,132,464 (GRCm39)	L265P	probably benign	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Pkn2	T	C	3: 142,516,219 (GRCm39)	D568G	possibly damaging	Het
Pwp1	A	G	10: 85,717,898 (GRCm39)	T279A	possibly damaging	Het
Rabep2	C	A	7: 126,044,546 (GRCm39)	D547E	probably damaging	Het
Rbm34	T	C	8: 127,676,037 (GRCm39)	K426R	probably benign	Het
Rgs14	T	G	13: 55,517,726 (GRCm39)	L8V	probably damaging	Het
Ripor2	A	G	13: 24,880,521 (GRCm39)	H407R	probably benign	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc39a12	T	C	2: 14,456,928 (GRCm39)	F603L	probably damaging	Het
Smg5	T	C	3: 88,256,465 (GRCm39)	S244P	probably benign	Het
St3gal3	T	C	4: 117,797,637 (GRCm39)	I252V	probably benign	Het
Tars3	T	A	7: 65,327,876 (GRCm39)	D528E	probably damaging	Het
Try10	A	G	6: 41,333,608 (GRCm39)	T118A	probably benign	Het
Tshr	C	T	12: 91,504,268 (GRCm39)	S402L	probably benign	Het

Other mutations in Mrps18c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01673:Mrps18c	APN	5	100,946,672 (GRCm39)	missense	possibly damaging	0.84
IGL01989:Mrps18c	APN	5	100,949,775 (GRCm39)	missense	probably damaging	1.00
IGL02571:Mrps18c	APN	5	100,949,841 (GRCm39)	missense	probably damaging	1.00
R5247:Mrps18c	UTSW	5	100,946,659 (GRCm39)	missense	probably damaging	0.98
R5267:Mrps18c	UTSW	5	100,950,960 (GRCm39)	nonsense	probably null
R7082:Mrps18c	UTSW	5	100,952,270 (GRCm39)	missense	probably damaging	1.00
R8309:Mrps18c	UTSW	5	100,952,264 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGATGGCTTGTTGCTACAAAG -3'
(R):5'- TTGCCAGTCTCCCGAAATAAC -3'

Sequencing Primer
(F):5'- GTTTACATAACTTGAAGGTAGT -3'
(R):5'- TCCCGAAATAACAAGCAATCAATGTG -3'

Posted On

2015-04-29