Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01661:Mrpl32'

103159

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrpl32

Ensembl Gene

ENSMUSG00000015672

Gene Name

mitochondrial ribosomal protein L32

Synonyms

0610033O15Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.873) question?

Stock #

IGL01661

Quality Score

Status

Chromosome

Chromosomal Location

14784886-14787622 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 14785178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 153 (V153I)

Ref Sequence

ENSEMBL: ENSMUSP00000152345 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015816] [ENSMUST00000170836] [ENSMUST00000220621] [ENSMUST00000221699]

AlphaFold

Q9DCI9

Predicted Effect

probably benign
Transcript: ENSMUST00000015816

SMART Domains

Protein: ENSMUSP00000015816
Gene: ENSMUSG00000015672

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
low complexity region	25	32	N/A	INTRINSIC
Pfam:Ribosomal_L32p	78	135	7.8e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170836

SMART Domains

Protein: ENSMUSP00000129767
Gene: ENSMUSG00000015671

Domain	Start	End	E-Value	Type
Proteasome_A_N	6	28	1.73e-5	SMART
Pfam:Proteasome	29	213	1.2e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220621
AA Change: V153I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000221699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223530

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 L32 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome Xp. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,333,007 (GRCm39)	F1569L	probably benign	Het
Acly	A	G	11: 100,405,168 (GRCm39)		probably benign	Het
Adgre5	T	A	8: 84,454,564 (GRCm39)	N313I	probably damaging	Het
Ccdc17	A	G	4: 116,455,063 (GRCm39)	H206R	probably benign	Het
Cenpo	C	T	12: 4,284,023 (GRCm39)		probably null	Het
Galnt5	G	T	2: 57,889,494 (GRCm39)	A365S	probably benign	Het
Josd1	G	A	15: 79,561,328 (GRCm39)	P160L	probably damaging	Het
Lamc1	C	A	1: 153,097,319 (GRCm39)	R1575L	possibly damaging	Het
Mtor	A	G	4: 148,599,308 (GRCm39)	K1452R	possibly damaging	Het
Nob1	T	C	8: 108,139,814 (GRCm39)	Y315C	probably damaging	Het
Or4c58	T	A	2: 89,674,439 (GRCm39)	M293L	probably benign	Het
Or8k28	T	C	2: 86,285,846 (GRCm39)	I256M	possibly damaging	Het
Prex2	A	G	1: 11,278,838 (GRCm39)	N1389S	probably benign	Het
Ptprd	G	A	4: 75,872,320 (GRCm39)	T1383M	probably damaging	Het
Ralbp1	A	G	17: 66,168,384 (GRCm39)	L307P	probably damaging	Het
Sema4f	A	G	6: 82,895,036 (GRCm39)		probably benign	Het
Slc2a3	A	G	6: 122,706,915 (GRCm39)	V486A	probably benign	Het
Spock2	T	A	10: 59,959,692 (GRCm39)	H140Q	probably damaging	Het
Tmc4	A	G	7: 3,669,926 (GRCm39)	I610T	probably damaging	Het
Tnc	T	C	4: 63,888,544 (GRCm39)		probably benign	Het
Ttll8	T	C	15: 88,820,202 (GRCm39)		probably benign	Het

Other mutations in Mrpl32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1226:Mrpl32	UTSW	13	14,786,096 (GRCm39)	missense	probably benign	0.12
R2358:Mrpl32	UTSW	13	14,785,165 (GRCm39)	missense	probably damaging	0.99
R3873:Mrpl32	UTSW	13	14,787,630 (GRCm39)	unclassified	probably benign
R4135:Mrpl32	UTSW	13	14,787,564 (GRCm39)	missense	probably damaging	0.97
R7627:Mrpl32	UTSW	13	14,787,498 (GRCm39)	missense	probably benign

Posted On

2014-01-21