Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01989:Mrps18c'

182795

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 #

IGL01989

Quality Score

Status

Chromosome

Chromosomal Location

100946625-100952333 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100949775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 52 (P52Q)

Ref Sequence

ENSEMBL: ENSMUSP00000016977 (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 damaging
Transcript: ENSMUST00000016977
AA Change: P52Q

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

SMART Domains

Protein: ENSMUSP00000016977
Gene: ENSMUSG00000016833
AA Change: P52Q

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 damaging
Transcript: ENSMUST00000112898
AA Change: P52Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000112901
AA Change: P52Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108522
Gene: ENSMUSG00000016833
AA Change: P52Q

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

silent
Transcript: ENSMUST00000198453

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140296

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: 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: ENSMUST00000153302

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	T	10: 28,862,266 (GRCm39)	V8D	probably damaging	Het
Asb15	A	G	6: 24,565,943 (GRCm39)	T299A	probably damaging	Het
Asph	A	T	4: 9,602,462 (GRCm39)		probably benign	Het
Cadm3	G	A	1: 173,165,578 (GRCm39)		probably benign	Het
Cep164	G	A	9: 45,704,313 (GRCm39)		probably benign	Het
Ces2c	C	A	8: 105,576,375 (GRCm39)	N129K	probably damaging	Het
Chdh	C	A	14: 29,753,688 (GRCm39)	P199Q	possibly damaging	Het
Dnah7b	T	C	1: 46,328,694 (GRCm39)	V3142A	probably damaging	Het
Dnmbp	A	G	19: 43,855,994 (GRCm39)	L254P	probably damaging	Het
Dock2	G	T	11: 34,218,053 (GRCm39)	N1172K	probably benign	Het
Dppa5a	T	A	9: 78,275,103 (GRCm39)	E66D	probably benign	Het
F5	A	G	1: 164,003,876 (GRCm39)	S224G	probably benign	Het
Fign	T	C	2: 63,810,794 (GRCm39)	T159A	probably benign	Het
Fsip2	A	T	2: 82,824,211 (GRCm39)	D6648V	probably damaging	Het
Gbp2b	A	T	3: 142,317,201 (GRCm39)	E519V	probably benign	Het
Hdac10	A	G	15: 89,009,546 (GRCm39)	L462P	probably damaging	Het
Hecw2	A	G	1: 53,879,951 (GRCm39)	L1286S	probably damaging	Het
Hnrnpll	A	G	17: 80,346,169 (GRCm39)	V364A	probably benign	Het
Hnrnpul2	A	G	19: 8,800,992 (GRCm39)	T282A	probably damaging	Het
Il12a	T	A	3: 68,598,909 (GRCm39)		probably benign	Het
Insl5	C	A	4: 102,883,838 (GRCm39)	V28L	probably benign	Het
Kcnj3	G	A	2: 55,327,243 (GRCm39)	D11N	probably benign	Het
Lrfn2	A	G	17: 49,378,113 (GRCm39)	D398G	probably damaging	Het
Lrp1	C	T	10: 127,413,998 (GRCm39)	D1137N	probably damaging	Het
Mettl18	C	A	1: 163,823,872 (GRCm39)	D64E	probably benign	Het
Mrpl3	A	G	9: 104,948,678 (GRCm39)	T245A	probably benign	Het
Myh3	A	T	11: 66,977,481 (GRCm39)	D377V	probably damaging	Het
N4bp1	C	A	8: 87,575,115 (GRCm39)	V727L	probably damaging	Het
Npffr2	A	G	5: 89,730,831 (GRCm39)	T254A	probably benign	Het
Nsfl1c	C	A	2: 151,342,649 (GRCm39)	T73K	probably damaging	Het
Or8a1b	C	T	9: 37,623,132 (GRCm39)	V148I	probably damaging	Het
Plxna1	C	T	6: 89,306,396 (GRCm39)	W1442*	probably null	Het
Serpina3n	T	A	12: 104,379,750 (GRCm39)	M381K	probably benign	Het
Shank3	C	T	15: 89,387,502 (GRCm39)		probably benign	Het
Smtnl1	T	C	2: 84,648,814 (GRCm39)	N147D	probably benign	Het
Sprr2j-ps	T	C	3: 92,326,412 (GRCm39)	S96P	unknown	Het
Ssh2	A	G	11: 77,344,511 (GRCm39)	E832G	possibly damaging	Het
Stxbp1	T	C	2: 32,702,076 (GRCm39)	D207G	probably benign	Het
Sult1c2	A	T	17: 54,281,055 (GRCm39)	M16K	probably benign	Het
Tmem247	A	G	17: 87,225,719 (GRCm39)	E53G	probably damaging	Het
Tmem86a	A	T	7: 46,703,187 (GRCm39)	I105F	probably benign	Het
Tph2	A	G	10: 114,981,921 (GRCm39)	S304P	probably benign	Het
Ttn	T	C	2: 76,608,883 (GRCm39)	D17711G	probably damaging	Het
Urb1	A	T	16: 90,566,474 (GRCm39)		probably benign	Het
Vcan	T	A	13: 89,837,478 (GRCm39)	I1729L	possibly damaging	Het
Vmn2r90	T	A	17: 17,933,494 (GRCm39)	Y351*	probably null	Het
Wfdc5	C	T	2: 164,020,651 (GRCm39)		probably null	Het
Wnt3	G	A	11: 103,703,233 (GRCm39)	D239N	probably benign	Het
Zbtb8b	T	A	4: 129,326,181 (GRCm39)	E295V	probably damaging	Het
Zfp458	T	C	13: 67,407,691 (GRCm39)	T52A	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
IGL02571:Mrps18c	APN	5	100,949,841 (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

2014-05-07