Incidental Mutation 'IGL01608:Mrpl45'
ID 91878
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 # IGL01608
Quality Score
Status
Chromosome 11
Chromosomal Location 97206542-97220746 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97207747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 81 (T81A)
Ref Sequence ENSEMBL: ENSMUSP00000019026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019026]
AlphaFold Q9D0Q7
Predicted Effect probably benign
Transcript: ENSMUST00000019026
AA Change: T81A

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000019026
Gene: ENSMUSG00000018882
AA Change: T81A

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: T69A
SMART Domains Protein: ENSMUSP00000116306
Gene: ENSMUSG00000018882
AA Change: T69A

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A T 4: 53,038,158 (GRCm39) L2068Q probably damaging Het
Abca12 G T 1: 71,298,601 (GRCm39) D2340E probably damaging Het
Adcy5 A G 16: 35,092,535 (GRCm39) Y632C probably damaging Het
Adgrb3 A G 1: 25,592,855 (GRCm39) S311P probably damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Atf2 G T 2: 73,649,422 (GRCm39) H396Q probably damaging Het
Atp8a1 G A 5: 67,970,479 (GRCm39) R74* probably null Het
Brpf3 T C 17: 29,040,491 (GRCm39) S971P probably benign Het
Btn1a1 T C 13: 23,645,778 (GRCm39) E197G probably benign Het
Ccdc136 C T 6: 29,406,113 (GRCm39) A87V possibly damaging Het
Celf4 A G 18: 25,630,560 (GRCm39) L376P probably damaging Het
Chrm3 G A 13: 9,928,634 (GRCm39) A134V possibly damaging Het
Col19a1 G A 1: 24,321,626 (GRCm39) R961C probably damaging Het
Cr2 A G 1: 194,837,528 (GRCm39) V1190A possibly damaging Het
Dop1a T A 9: 86,389,614 (GRCm39) S515T probably benign Het
Eprs1 T A 1: 185,117,311 (GRCm39) probably benign Het
Fbn2 G T 18: 58,186,776 (GRCm39) Y1708* probably null Het
Glt1d1 A G 5: 127,741,746 (GRCm39) N148S possibly damaging Het
Gm20425 T A 9: 103,068,293 (GRCm39) I44F probably damaging Het
Gpr22 T A 12: 31,758,779 (GRCm39) K411* probably null Het
Ipo11 A G 13: 106,971,002 (GRCm39) probably benign Het
Klri1 T A 6: 129,675,130 (GRCm39) N210I possibly damaging Het
Kmt2c C T 5: 25,559,809 (GRCm39) V950M probably damaging Het
Knop1 T C 7: 118,445,019 (GRCm39) K315R probably benign Het
Krt90 A G 15: 101,471,064 (GRCm39) I66T probably benign Het
Lrrc32 T A 7: 98,148,564 (GRCm39) V448D probably benign Het
Met T C 6: 17,558,729 (GRCm39) V1119A probably damaging Het
Minar1 T C 9: 89,478,551 (GRCm39) T832A probably benign Het
Mipep T A 14: 61,039,679 (GRCm39) I236N possibly damaging Het
Mtbp G T 15: 55,421,085 (GRCm39) E24* probably null Het
Muc5b C T 7: 141,400,174 (GRCm39) T476I unknown Het
Mup6 C T 4: 60,006,021 (GRCm39) T163I probably benign Het
Myo1g T A 11: 6,466,780 (GRCm39) I278F possibly damaging Het
Myo9a A T 9: 59,778,119 (GRCm39) K1292* probably null Het
Nbeal1 T A 1: 60,281,694 (GRCm39) probably benign Het
Nck1 C A 9: 100,379,440 (GRCm39) R270S probably benign Het
Neb T C 2: 52,060,548 (GRCm39) E6035G probably damaging Het
Nlrp4f A C 13: 65,343,357 (GRCm39) L96* probably null Het
Or11g1 A T 14: 50,651,910 (GRCm39) H303L probably benign Het
Or4a77 A T 2: 89,486,835 (GRCm39) probably benign Het
Or51l14 A T 7: 103,101,011 (GRCm39) I156F probably benign Het
Or5t18 A C 2: 86,636,769 (GRCm39) Y191* probably null Het
Padi2 A G 4: 140,659,541 (GRCm39) E282G probably damaging Het
Pcdhb4 A G 18: 37,441,803 (GRCm39) D371G probably damaging Het
Pcdhb8 A G 18: 37,489,978 (GRCm39) D552G probably damaging Het
Peli3 A G 19: 4,982,855 (GRCm39) I270T probably damaging Het
Phf20 A G 2: 156,118,516 (GRCm39) M407V probably benign Het
Ppm1h C T 10: 122,777,185 (GRCm39) R103* probably null Het
Rangap1 C T 15: 81,593,705 (GRCm39) V457M probably benign Het
Scube2 A G 7: 109,442,461 (GRCm39) V257A probably benign Het
Shc1 C A 3: 89,332,156 (GRCm39) Q204K probably damaging Het
Slc6a4 T A 11: 76,917,961 (GRCm39) Y568N probably damaging Het
Srgap3 A G 6: 112,923,439 (GRCm39) F7L probably benign Het
St6galnac4 T A 2: 32,484,098 (GRCm39) C99S probably damaging Het
Strc T C 2: 121,206,075 (GRCm39) D779G probably benign Het
Supt6 A T 11: 78,116,309 (GRCm39) Y685N probably damaging Het
Traf3ip3 T C 1: 192,869,418 (GRCm39) T256A probably benign Het
Vmn1r74 A T 7: 11,581,560 (GRCm39) I287F probably damaging Het
Zmym2 C A 14: 57,185,472 (GRCm39) Q1035K possibly damaging Het
Zswim3 G A 2: 164,663,440 (GRCm39) R640H probably damaging Het
Other mutations in Mrpl45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03142:Mrpl45 APN 11 97,206,751 (GRCm39) missense probably benign 0.00
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 2013-12-09