Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02571:Mrps18c'

298996

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrps18c

Ensembl Gene

ENSMUSG00000016833

Gene Name

mitochondrial ribosomal protein S18C

Synonyms

1110037D14Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02571

Quality Score

Status

Chromosome

Chromosomal Location

100946625-100952333 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100949841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 74 (D74G)

Ref Sequence

ENSEMBL: ENSMUSP00000016977 (fasta)

Gene Model

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

AlphaFold

Q8R2L5

Predicted Effect

probably damaging
Transcript: ENSMUST00000016977
AA Change: D74G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000016977
Gene: ENSMUSG00000016833
AA Change: D74G

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

possibly damaging
Transcript: ENSMUST00000112898
AA Change: D74G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000112901
AA Change: D74G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108522
Gene: ENSMUSG00000016833
AA Change: D74G

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

noncoding transcript
Transcript: ENSMUST00000145429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140296

Predicted Effect

probably benign
Transcript: ENSMUST00000198453

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

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

Coding Region Coverage

Validation Efficiency

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a2	T	C	14: 60,249,907 (GRCm39)		probably benign	Het
Cacna2d2	G	A	9: 107,402,845 (GRCm39)	E885K	possibly damaging	Het
Cyp4f17	A	G	17: 32,743,878 (GRCm39)	E352G	probably benign	Het
Dip2b	T	C	15: 100,055,766 (GRCm39)	W373R	possibly damaging	Het
Garin3	G	T	11: 46,296,072 (GRCm39)	R148L	probably damaging	Het
Gem	C	A	4: 11,713,628 (GRCm39)	Q255K	probably benign	Het
Herc1	T	C	9: 66,341,887 (GRCm39)		probably benign	Het
Herc2	A	T	7: 55,803,134 (GRCm39)	N2161I	probably damaging	Het
Ift172	A	G	5: 31,415,235 (GRCm39)	F1325L	probably damaging	Het
Irgc	T	C	7: 24,132,016 (GRCm39)	K267R	probably damaging	Het
Kif1a	A	G	1: 92,948,178 (GRCm39)		probably null	Het
Lifr	G	T	15: 7,219,592 (GRCm39)		probably benign	Het
Mrpl12	A	G	11: 120,376,258 (GRCm39)		probably null	Het
Mtus1	C	T	8: 41,536,519 (GRCm39)	G399D	possibly damaging	Het
Nf1	T	C	11: 79,319,453 (GRCm39)	I536T	probably damaging	Het
Or5a3	C	A	19: 12,400,250 (GRCm39)	S192R	possibly damaging	Het
Pcdh9	A	G	14: 93,798,023 (GRCm39)		probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rubcnl	A	T	14: 75,269,576 (GRCm39)	Q78L	possibly damaging	Het
Sis	C	A	3: 72,863,637 (GRCm39)		probably benign	Het
Tbc1d2	T	C	4: 46,628,370 (GRCm39)	M320V	probably benign	Het
Vmn1r178	C	T	7: 23,593,660 (GRCm39)	T236I	probably damaging	Het
Xpc	T	C	6: 91,481,053 (GRCm39)	D273G	probably benign	Het
Zfhx4	A	C	3: 5,394,583 (GRCm39)	N1033T	probably damaging	Het
Zfp646	A	G	7: 127,478,584 (GRCm39)	T254A	probably damaging	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
R4008:Mrps18c	UTSW	5	100,950,982 (GRCm39)	unclassified	probably benign
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

Posted On

2015-04-16