Incidental Mutation 'IGL03142:Mrpl45'
ID 410730
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl45
Ensembl Gene ENSMUSG00000018882
Gene Name mitochondrial ribosomal protein L45
Synonyms 2600005P05Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # IGL03142
Quality Score
Status
Chromosome 11
Chromosomal Location 97206542-97220746 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97206751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 18 (W18R)
Ref Sequence ENSEMBL: ENSMUSP00000019026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019026]
AlphaFold Q9D0Q7
Predicted Effect probably benign
Transcript: ENSMUST00000019026
AA Change: W18R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000019026
Gene: ENSMUSG00000018882
AA Change: W18R

DomainStartEndE-ValueType
low complexity region 26 39 N/A INTRINSIC
low complexity region 43 55 N/A INTRINSIC
Tim44 118 266 3.7e-32 SMART
Predicted Effect unknown
Transcript: ENSMUST00000132168
AA Change: W6R
SMART Domains Protein: ENSMUSP00000116306
Gene: ENSMUSG00000018882
AA Change: W6R

DomainStartEndE-ValueType
low complexity region 15 28 N/A INTRINSIC
low complexity region 32 44 N/A INTRINSIC
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. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 2p and 17q. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc88c T C 12: 100,913,457 (GRCm39) S523G probably damaging Het
Ccnb1 A T 13: 100,920,039 (GRCm39) D157E probably damaging Het
Cep43 T A 17: 8,411,041 (GRCm39) S331R probably damaging Het
Cfap70 T C 14: 20,447,283 (GRCm39) T1055A probably damaging Het
Fn1 C A 1: 71,676,455 (GRCm39) R592L probably damaging Het
Frmpd4 T A X: 166,262,479 (GRCm39) D550V possibly damaging Het
Gcm2 A G 13: 41,256,711 (GRCm39) V346A probably benign Het
Gm10112 C T X: 110,209,673 (GRCm39) T4I probably damaging Het
Gm3115 T C 14: 4,084,302 (GRCm38) probably benign Het
Has2 A T 15: 56,545,491 (GRCm39) I37N possibly damaging Het
Hmgn3 A G 9: 83,028,482 (GRCm39) probably benign Het
Klhl29 T A 12: 5,187,603 (GRCm39) N254Y probably damaging Het
Kti12 A G 4: 108,705,362 (GRCm39) Y92C probably damaging Het
Lyset G A 12: 102,710,933 (GRCm39) S52N probably damaging Het
Mgat5 A C 1: 127,339,960 (GRCm39) Q447P probably damaging Het
Mlh3 C A 12: 85,297,075 (GRCm39) probably null Het
Mtor A G 4: 148,538,356 (GRCm39) D138G probably benign Het
Mycbp2 C T 14: 103,536,212 (GRCm39) C246Y probably damaging Het
Mylk4 A T 13: 32,904,582 (GRCm39) V415E probably damaging Het
Olfm3 A T 3: 114,890,679 (GRCm39) Q124L probably damaging Het
Or4d11 A T 19: 12,013,752 (GRCm39) M118K probably damaging Het
Pam C T 1: 97,822,111 (GRCm39) G298R probably damaging Het
Pappa2 A C 1: 158,682,501 (GRCm39) I849R probably damaging Het
Pde3a T A 6: 141,438,025 (GRCm39) D1031E probably benign Het
Pik3cb A T 9: 98,947,615 (GRCm39) S521T probably benign Het
Pkn1 A G 8: 84,397,652 (GRCm39) F824L possibly damaging Het
Pspn C T 17: 57,306,566 (GRCm39) R121Q probably benign Het
Ric1 A G 19: 29,578,380 (GRCm39) D1195G possibly damaging Het
Sin3b A G 8: 73,471,196 (GRCm39) D381G probably damaging Het
Slc37a3 T C 6: 39,336,919 (GRCm39) probably null Het
Smtn T A 11: 3,482,601 (GRCm39) K124* probably null Het
Tbce A G 13: 14,194,449 (GRCm39) V70A possibly damaging Het
Tti1 A G 2: 157,842,597 (GRCm39) Y811H probably damaging Het
Uggt2 T C 14: 119,235,603 (GRCm39) Y1424C probably damaging Het
Upf1 A G 8: 70,785,977 (GRCm39) V994A probably benign Het
Vmn2r121 T C X: 123,042,635 (GRCm39) D174G possibly damaging Het
Other mutations in Mrpl45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01608:Mrpl45 APN 11 97,207,747 (GRCm39) missense probably benign 0.30
R0321:Mrpl45 UTSW 11 97,217,764 (GRCm39) splice site probably benign
R0589:Mrpl45 UTSW 11 97,214,714 (GRCm39) missense probably benign 0.02
R1472:Mrpl45 UTSW 11 97,214,681 (GRCm39) nonsense probably null
R1938:Mrpl45 UTSW 11 97,206,770 (GRCm39) splice site probably null
R2105:Mrpl45 UTSW 11 97,216,573 (GRCm39) missense probably benign 0.03
R5183:Mrpl45 UTSW 11 97,207,577 (GRCm39) missense probably benign 0.02
R5690:Mrpl45 UTSW 11 97,212,412 (GRCm39) intron probably benign
R6372:Mrpl45 UTSW 11 97,212,388 (GRCm39) critical splice donor site probably benign
R9608:Mrpl45 UTSW 11 97,217,687 (GRCm39) missense probably damaging 1.00
Z1176:Mrpl45 UTSW 11 97,212,385 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02