Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01989:Mrpl3'

182834

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrpl3

Ensembl Gene

ENSMUSG00000032563

Gene Name

mitochondrial ribosomal protein L3

Synonyms

dcr, 5930422H18Rik, 2010320L16Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01989

Quality Score

Status

Chromosome

Chromosomal Location

104930394-104954665 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104948678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 245 (T245A)

Ref Sequence

ENSEMBL: ENSMUSP00000035177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035177] [ENSMUST00000142424] [ENSMUST00000149243]

AlphaFold

Q99N95

Predicted Effect

probably benign
Transcript: ENSMUST00000035177
AA Change: T245A

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000035177
Gene: ENSMUSG00000032563
AA Change: T245A

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L3	1	119	1.1e-13	PFAM
Pfam:Ribosomal_L3	112	340	2e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139022

Predicted Effect

probably benign
Transcript: ENSMUST00000142424

Predicted Effect

probably benign
Transcript: ENSMUST00000149243
AA Change: T245A

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000117547
Gene: ENSMUSG00000032563
AA Change: T245A

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L3	103	300	1.4e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214459

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215577

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 39S subunit protein that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [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
Mrps18c	C	A	5: 100,949,775 (GRCm39)	P52Q	probably damaging	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 Mrpl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00805:Mrpl3	APN	9	104,941,305 (GRCm39)	missense	probably damaging	1.00
IGL00917:Mrpl3	APN	9	104,934,240 (GRCm39)	missense	probably damaging	1.00
IGL02727:Mrpl3	APN	9	104,931,726 (GRCm39)	missense	probably damaging	0.99
IGL03188:Mrpl3	APN	9	104,934,264 (GRCm39)	missense	probably benign	0.00
R0049:Mrpl3	UTSW	9	104,932,872 (GRCm39)	missense	probably benign	0.06
R0049:Mrpl3	UTSW	9	104,932,872 (GRCm39)	missense	probably benign	0.06
R0398:Mrpl3	UTSW	9	104,941,302 (GRCm39)	missense	probably damaging	1.00
R1469:Mrpl3	UTSW	9	104,954,201 (GRCm39)	missense	probably damaging	0.99
R1469:Mrpl3	UTSW	9	104,954,201 (GRCm39)	missense	probably damaging	0.99
R1784:Mrpl3	UTSW	9	104,934,266 (GRCm39)	missense	probably benign	0.00
R4026:Mrpl3	UTSW	9	104,948,685 (GRCm39)	critical splice donor site	probably null
R4812:Mrpl3	UTSW	9	104,951,023 (GRCm39)	missense	probably damaging	1.00
R4838:Mrpl3	UTSW	9	104,934,231 (GRCm39)	missense	probably damaging	1.00
R5407:Mrpl3	UTSW	9	104,954,294 (GRCm39)	missense	probably benign	0.03
R8219:Mrpl3	UTSW	9	104,934,271 (GRCm39)	missense	possibly damaging	0.48
RF016:Mrpl3	UTSW	9	104,952,452 (GRCm39)	missense	probably benign	0.31

Posted On

2014-05-07