Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00670:Mrps31'

12094

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrps31

Ensembl Gene

ENSMUSG00000031533

Gene Name

mitochondrial ribosomal protein S31

Synonyms

Imogen44, 1500002D03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

IGL00670

Quality Score

Status

Chromosome

Chromosomal Location

22901377-22919681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22919206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 312 (D312G)

Ref Sequence

ENSEMBL: ENSMUSP00000033934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033934]

AlphaFold

Q61733

Predicted Effect

probably damaging
Transcript: ENSMUST00000033934
AA Change: D312G

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

SMART Domains

Protein: ENSMUSP00000033934
Gene: ENSMUSG00000031533
AA Change: D312G

Domain	Start	End	E-Value	Type
Pfam:MRP-S31	85	378	3.8e-118	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211083

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. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that has also been associated with type 1 diabetes; however, its relationship to the etiology of this disease remains to be clarified. Pseudogenes corresponding to this gene have been found on chromosomes 3 and 13. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,633,007 (GRCm39)	L245Q	probably damaging	Het
Abcd3	A	T	3: 121,569,333 (GRCm39)	V333D	probably damaging	Het
Aff2	T	A	X: 68,588,199 (GRCm39)	M122K	possibly damaging	Het
Car10	C	T	11: 93,195,483 (GRCm39)		probably benign	Het
Cyp2d26	T	A	15: 82,675,942 (GRCm39)	M257L	probably benign	Het
Cyp2j5	T	G	4: 96,522,512 (GRCm39)	D354A	probably benign	Het
Fam228b	T	C	12: 4,814,081 (GRCm39)	K59E	probably damaging	Het
Fndc3c1	T	C	X: 105,489,383 (GRCm39)	D346G	probably benign	Het
Med14	G	A	X: 12,620,428 (GRCm39)	A95V	probably damaging	Het
Med23	T	C	10: 24,764,482 (GRCm39)	L155P	probably damaging	Het
Ppp1r3a	A	T	6: 14,719,059 (GRCm39)	N618K	probably benign	Het
Prb1a	A	T	6: 132,184,109 (GRCm39)		probably benign	Het
Slc5a4a	A	T	10: 75,999,567 (GRCm39)	I210F	probably damaging	Het
Tasor2	A	T	13: 3,635,241 (GRCm39)	I522N	probably benign	Het
Ttn	A	T	2: 76,657,335 (GRCm39)		probably benign	Het

Other mutations in Mrps31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Mrps31	APN	8	22,917,841 (GRCm39)	missense	probably damaging	1.00
IGL01818:Mrps31	APN	8	22,901,483 (GRCm39)	start codon destroyed	probably null	1.00
R0304:Mrps31	UTSW	8	22,911,354 (GRCm39)	missense	probably benign	0.06
R1230:Mrps31	UTSW	8	22,909,759 (GRCm39)	missense	possibly damaging	0.60
R4702:Mrps31	UTSW	8	22,909,754 (GRCm39)	missense	probably damaging	1.00
R5947:Mrps31	UTSW	8	22,904,991 (GRCm39)	missense	possibly damaging	0.95
R6143:Mrps31	UTSW	8	22,901,539 (GRCm39)	missense	probably benign	0.22
R6473:Mrps31	UTSW	8	22,904,881 (GRCm39)	missense	probably benign	0.01
R7404:Mrps31	UTSW	8	22,911,429 (GRCm39)	missense	probably benign	0.28
R7554:Mrps31	UTSW	8	22,911,445 (GRCm39)	missense	possibly damaging	0.79
R7877:Mrps31	UTSW	8	22,914,367 (GRCm39)	missense	probably benign
R9381:Mrps31	UTSW	8	22,904,752 (GRCm39)	missense	probably damaging	1.00
R9627:Mrps31	UTSW	8	22,901,558 (GRCm39)	missense	probably benign	0.00
RF007:Mrps31	UTSW	8	22,909,880 (GRCm39)	missense	possibly damaging	0.94

Posted On

2012-12-06