Incidental Mutation 'R7045:Mrpl28'
ID 547279
Institutional Source Beutler Lab
Gene Symbol Mrpl28
Ensembl Gene ENSMUSG00000024181
Gene Name mitochondrial ribosomal protein L28
Synonyms MAAT1, 1110015G04Rik, p15
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R7045 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 26342477-26345587 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26345261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 227 (F227S)
Ref Sequence ENSEMBL: ENSMUSP00000025014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025010] [ENSMUST00000025014] [ENSMUST00000128597]
AlphaFold Q9D1B9
Predicted Effect probably benign
Transcript: ENSMUST00000025010
SMART Domains Protein: ENSMUSP00000025010
Gene: ENSMUSG00000024180

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
EGF 495 531 1.99e1 SMART
Pfam:DUF3522 541 725 1e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025014
AA Change: F227S

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000025014
Gene: ENSMUSG00000024181
AA Change: F227S

DomainStartEndE-ValueType
Pfam:Ribosomal_L28 77 138 3.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127647
SMART Domains Protein: ENSMUSP00000115369
Gene: ENSMUSG00000024181

DomainStartEndE-ValueType
PDB:4CE4|1 2 44 5e-19 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000128597
SMART Domains Protein: ENSMUSP00000121651
Gene: ENSMUSG00000024180

DomainStartEndE-ValueType
EGF 3 39 1.99e1 SMART
Pfam:DUF3522 47 143 2e-36 PFAM
Pfam:DUF3522 134 194 2.6e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: 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. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 A T 12: 112,628,735 (GRCm39) Y18* probably null Het
Ank2 C A 3: 126,806,393 (GRCm39) A583S probably damaging Het
Aoc1l3 T C 6: 48,965,546 (GRCm39) V518A possibly damaging Het
Atp8b4 T C 2: 126,214,115 (GRCm39) N706S probably benign Het
Bace2 A G 16: 97,200,865 (GRCm39) N111S probably damaging Het
Cnp A T 11: 100,471,184 (GRCm39) R275S probably benign Het
Cs T A 10: 128,188,586 (GRCm39) M104K probably benign Het
Ctcfl G A 2: 172,954,167 (GRCm39) T310I probably damaging Het
Cyp2d40 T C 15: 82,645,763 (GRCm39) I81V probably benign Het
Ddx19a A G 8: 111,719,706 (GRCm39) V30A probably benign Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dock6 G A 9: 21,733,107 (GRCm39) A1062V probably damaging Het
Dpysl2 T C 14: 67,067,395 (GRCm39) D172G probably benign Het
Eml2 A G 7: 18,935,504 (GRCm39) D638G probably damaging Het
Epb41l4b C A 4: 57,103,522 (GRCm39) A105S possibly damaging Het
Fat4 A G 3: 38,942,750 (GRCm39) I548V probably benign Het
Gabrb2 G A 11: 42,484,758 (GRCm39) A272T probably damaging Het
Gask1a T C 9: 121,794,707 (GRCm39) L287P probably damaging Het
Hcn1 C T 13: 118,111,998 (GRCm39) P654L unknown Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,194,000 (GRCm39) probably benign Het
Hk1 C A 10: 62,122,349 (GRCm39) G477C probably damaging Het
Hspa5 C T 2: 34,663,204 (GRCm39) P127L probably damaging Het
Kiss1r A G 10: 79,755,259 (GRCm39) probably null Het
L3mbtl4 G T 17: 68,768,561 (GRCm39) R223L probably benign Het
Loxl4 G T 19: 42,595,074 (GRCm39) N200K probably damaging Het
Lrba T C 3: 86,192,398 (GRCm39) V104A probably benign Het
Lyst T A 13: 13,809,485 (GRCm39) V385D probably benign Het
Lyst T A 13: 13,812,293 (GRCm39) C902S probably damaging Het
Mtmr3 A T 11: 4,448,896 (GRCm39) V289E possibly damaging Het
Ndst3 A G 3: 123,465,732 (GRCm39) V80A probably damaging Het
Nid2 C T 14: 19,829,749 (GRCm39) A680V possibly damaging Het
Nudcd1 T C 15: 44,269,226 (GRCm39) N145D probably benign Het
Nup210 A T 6: 91,031,433 (GRCm39) I812N probably damaging Het
Or2ak6 A T 11: 58,592,495 (GRCm39) probably benign Het
Or2g7 C T 17: 38,378,862 (GRCm39) H267Y probably benign Het
Or2y17 A T 11: 49,231,757 (GRCm39) T133S probably damaging Het
Or52n4b A G 7: 108,144,452 (GRCm39) K238R probably damaging Het
Or5b114-ps1 C A 19: 13,352,336 (GRCm39) N3K probably damaging Het
Or8c11 T A 9: 38,289,729 (GRCm39) M184K probably damaging Het
Or8k16 A G 2: 85,520,255 (GRCm39) S161G possibly damaging Het
Pcdhb6 A C 18: 37,469,329 (GRCm39) Q750P possibly damaging Het
Plppr4 T C 3: 117,153,683 (GRCm39) Y72C probably damaging Het
Rasgrf2 G T 13: 92,159,100 (GRCm39) probably benign Het
Sbk2 A G 7: 4,961,905 (GRCm39) I127T probably damaging Het
Smchd1 A C 17: 71,722,039 (GRCm39) S817A probably benign Het
Speer4b A T 5: 27,705,123 (GRCm39) N83K probably damaging Het
Strc A T 2: 121,201,207 (GRCm39) L1296Q probably damaging Het
Thap11 C A 8: 106,582,215 (GRCm39) R75S possibly damaging Het
Unc13a A C 8: 72,111,407 (GRCm39) L268R possibly damaging Het
Zfp39 A T 11: 58,781,269 (GRCm39) C498S unknown Het
Zfp507 T C 7: 35,494,978 (GRCm39) T22A possibly damaging Het
Zfp85 T C 13: 67,897,712 (GRCm39) Y120C probably benign Het
Zfp882 G A 8: 72,667,093 (GRCm39) probably null Het
Other mutations in Mrpl28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Mrpl28 APN 17 26,344,489 (GRCm39) missense probably damaging 1.00
R2269:Mrpl28 UTSW 17 26,345,285 (GRCm39) missense probably benign 0.12
R6343:Mrpl28 UTSW 17 26,345,252 (GRCm39) missense probably benign 0.05
R7468:Mrpl28 UTSW 17 26,343,589 (GRCm39) missense probably damaging 1.00
R7863:Mrpl28 UTSW 17 26,343,615 (GRCm39) missense possibly damaging 0.94
R8125:Mrpl28 UTSW 17 26,343,594 (GRCm39) missense probably damaging 1.00
R9440:Mrpl28 UTSW 17 26,345,266 (GRCm39) missense possibly damaging 0.69
R9502:Mrpl28 UTSW 17 26,343,594 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGTGTGACCAAGGGAAAGC -3'
(R):5'- TGGCACAGAAGGGTTCTCTG -3'

Sequencing Primer
(F):5'- CCAAGGGAAAGCAGTCCTCTTTTG -3'
(R):5'- GGGTTCTCTGAAAAGTCTACCACAG -3'
Posted On 2019-05-13