Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00912:Mrps35'

27602

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrps35

Ensembl Gene

ENSMUSG00000040112

Gene Name

mitochondrial ribosomal protein S35

Synonyms

MDSO23, MRPS28, MRP-S28

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

IGL00912

Quality Score

Status

Chromosome

Chromosomal Location

146944270-146972399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146957419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 148 (I148N)

Ref Sequence

ENSEMBL: ENSMUSP00000048348 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036111] [ENSMUST00000137556]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036111
AA Change: I148N

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048348
Gene: ENSMUSG00000040112
AA Change: I148N

Domain	Start	End	E-Value	Type
Pfam:MRP-S28	138	262	2.5e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143204

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 has had confusing nomenclature in the literature. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 3p, 5q, and 10q. [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,529,270 (GRCm39)	M957I	probably benign	Het
Cep83	C	T	10: 94,573,728 (GRCm39)	R206*	probably null	Het
H3f3b	A	T	11: 115,914,270 (GRCm39)	I125N	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Jag1	G	A	2: 136,957,493 (GRCm39)	T73M	probably damaging	Het
Nostrin	G	A	2: 69,013,163 (GRCm39)		probably benign	Het
Rer1	A	G	4: 155,167,122 (GRCm39)		probably null	Het
Scaper	A	G	9: 55,593,239 (GRCm39)	L466S	probably damaging	Het
Tmem87a	T	C	2: 120,234,417 (GRCm39)	D42G	possibly damaging	Het
Ttn	G	T	2: 76,569,176 (GRCm39)	T27239K	probably damaging	Het
Ugt3a1	G	A	15: 9,310,698 (GRCm39)	V327M	probably damaging	Het
Vmn2r100	A	G	17: 19,751,654 (GRCm39)	T566A	possibly damaging	Het

Other mutations in Mrps35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01776:Mrps35	APN	6	146,972,214 (GRCm39)	missense	probably benign	0.33
IGL02134:Mrps35	APN	6	146,949,808 (GRCm39)	splice site	probably benign
IGL03382:Mrps35	APN	6	146,951,373 (GRCm39)	nonsense	probably null
R0600:Mrps35	UTSW	6	146,972,232 (GRCm39)	missense	possibly damaging	0.53
R0648:Mrps35	UTSW	6	146,957,443 (GRCm39)	nonsense	probably null
R1466:Mrps35	UTSW	6	146,957,482 (GRCm39)	missense	probably damaging	0.98
R1466:Mrps35	UTSW	6	146,957,482 (GRCm39)	missense	probably damaging	0.98
R1584:Mrps35	UTSW	6	146,957,482 (GRCm39)	missense	probably damaging	0.98
R1655:Mrps35	UTSW	6	146,961,726 (GRCm39)	missense	possibly damaging	0.84
R2018:Mrps35	UTSW	6	146,962,982 (GRCm39)	nonsense	probably null
R2257:Mrps35	UTSW	6	146,972,125 (GRCm39)	missense	possibly damaging	0.85
R4989:Mrps35	UTSW	6	146,961,645 (GRCm39)	missense	possibly damaging	0.85
R5174:Mrps35	UTSW	6	146,961,709 (GRCm39)	missense	possibly damaging	0.93
R5453:Mrps35	UTSW	6	146,972,115 (GRCm39)	missense	probably benign	0.32
R6682:Mrps35	UTSW	6	146,949,777 (GRCm39)	missense	possibly damaging	0.86
R7181:Mrps35	UTSW	6	146,957,491 (GRCm39)	critical splice donor site	probably null
R7409:Mrps35	UTSW	6	146,957,481 (GRCm39)	missense	possibly damaging	0.71
R8132:Mrps35	UTSW	6	146,949,661 (GRCm39)	missense	probably benign
X0066:Mrps35	UTSW	6	146,972,218 (GRCm39)	missense	possibly damaging	0.72

Posted On

2013-04-17