Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00936:Mrps22'

28184

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrps22

Ensembl Gene

ENSMUSG00000032459

Gene Name

mitochondrial ribosomal protein S22

Synonyms

3100002P07Rik, Rpms22

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00936

Quality Score

Status

Chromosome

Chromosomal Location

98470783-98483713 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98479034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 114 (T114A)

Ref Sequence

ENSEMBL: ENSMUSP00000035034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035034]

AlphaFold

Q9CXW2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035034
AA Change: T114A

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000035034
Gene: ENSMUSG00000032459
AA Change: T114A

Domain	Start	End	E-Value	Type
low complexity region	18	31	N/A	INTRINSIC
low complexity region	54	63	N/A	INTRINSIC
Pfam:MRP-S22	67	308	7.5e-111	PFAM
low complexity region	311	322	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190150

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 does not seem to have a counterpart in prokaryotic and fungal-mitochondrial ribosomes. This gene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 gene. A pseudogene corresponding to this gene is found on chromosome Xq. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,682,510 (GRCm39)	T1053A	probably benign	Het
Col13a1	A	G	10: 61,712,069 (GRCm39)	M332T	probably damaging	Het
Cstdc1	A	C	2: 148,627,724 (GRCm39)	T124P	probably benign	Het
Cyth4	A	G	15: 78,504,113 (GRCm39)	E361G	probably benign	Het
Nup155	T	C	15: 8,157,889 (GRCm39)		probably benign	Het
Or5b113	T	A	19: 13,341,988 (GRCm39)		probably benign	Het
Slc35g3	T	C	11: 69,651,317 (GRCm39)		probably null	Het
Taar7f	T	C	10: 23,926,066 (GRCm39)	V220A	probably benign	Het

Other mutations in Mrps22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0562:Mrps22	UTSW	9	98,474,746 (GRCm39)	missense	probably benign	0.04
R1241:Mrps22	UTSW	9	98,476,748 (GRCm39)	missense	probably benign	0.01
R1672:Mrps22	UTSW	9	98,478,869 (GRCm39)	splice site	probably null
R4683:Mrps22	UTSW	9	98,480,359 (GRCm39)	splice site	probably null
R6332:Mrps22	UTSW	9	98,483,524 (GRCm39)	critical splice donor site	probably null
R7144:Mrps22	UTSW	9	98,483,524 (GRCm39)	critical splice donor site	probably null
R8917:Mrps22	UTSW	9	98,476,163 (GRCm39)	missense	probably benign	0.31
R9502:Mrps22	UTSW	9	98,480,219 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17