Incidental Mutation 'IGL01661:Mrpl32'
ID103159
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl32
Ensembl Gene ENSMUSG00000015672
Gene Namemitochondrial ribosomal protein L32
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.806) question?
Stock #IGL01661
Quality Score
Status
Chromosome13
Chromosomal Location14608184-14613165 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 14610593 bp
ZygosityHeterozygous
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]
Predicted Effect probably benign
Transcript: ENSMUST00000015816
SMART Domains Protein: ENSMUSP00000015816
Gene: ENSMUSG00000015672

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,442,995 F1569L probably benign Het
Acly A G 11: 100,514,342 probably benign Het
Adgre5 T A 8: 83,727,935 N313I probably damaging Het
Ccdc17 A G 4: 116,597,866 H206R probably benign Het
Cenpo C T 12: 4,234,023 probably null Het
Galnt5 G T 2: 57,999,482 A365S probably benign Het
Josd1 G A 15: 79,677,127 P160L probably damaging Het
Lamc1 C A 1: 153,221,573 R1575L possibly damaging Het
Mtor A G 4: 148,514,851 K1452R possibly damaging Het
Nob1 T C 8: 107,413,182 Y315C probably damaging Het
Olfr1066 T C 2: 86,455,502 I256M possibly damaging Het
Olfr48 T A 2: 89,844,095 M293L probably benign Het
Prex2 A G 1: 11,208,614 N1389S probably benign Het
Ptprd G A 4: 75,954,083 T1383M probably damaging Het
Ralbp1 A G 17: 65,861,389 L307P probably damaging Het
Sema4f A G 6: 82,918,055 probably benign Het
Slc2a3 A G 6: 122,729,956 V486A probably benign Het
Spock2 T A 10: 60,123,870 H140Q probably damaging Het
Tmc4 A G 7: 3,666,927 I610T probably damaging Het
Tnc T C 4: 63,970,307 probably benign Het
Ttll8 T C 15: 88,935,999 probably benign Het
Other mutations in Mrpl32
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1226:Mrpl32 UTSW 13 14611511 missense probably benign 0.12
R2358:Mrpl32 UTSW 13 14610580 missense probably damaging 0.99
R3873:Mrpl32 UTSW 13 14613045 unclassified probably benign
R4135:Mrpl32 UTSW 13 14612979 missense probably damaging 0.97
R7627:Mrpl32 UTSW 13 14612913 missense probably benign
Posted On2014-01-21