Incidental Mutation 'R6012:Mrps28'
ID 479792
Institutional Source Beutler Lab
Gene Symbol Mrps28
Ensembl Gene ENSMUSG00000040269
Gene Name mitochondrial ribosomal protein S28
Synonyms 1500012D08Rik
MMRRC Submission 044188-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.427) question?
Stock # R6012 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 8867206-8988917 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 8965044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000038305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042148]
AlphaFold Q9CY16
Predicted Effect probably null
Transcript: ENSMUST00000042148
SMART Domains Protein: ENSMUSP00000038305
Gene: ENSMUSG00000040269

DomainStartEndE-ValueType
S1 94 158 1.69e0 SMART
Meta Mutation Damage Score 0.9594 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.4%
Validation Efficiency 100% (55/55)
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 28S subunit protein that has been called mitochondrial ribosomal protein S35 in the literature. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T A 16: 8,400,691 (GRCm39) Y97N probably damaging Het
Adrm1b C A 3: 92,336,791 (GRCm39) probably null Het
Akr1b10 A T 6: 34,364,715 (GRCm39) I59F probably damaging Het
Als2 A T 1: 59,224,374 (GRCm39) D1076E probably damaging Het
Bank1 T C 3: 135,919,598 (GRCm39) D266G probably benign Het
Bmp2k T A 5: 97,211,467 (GRCm39) probably null Het
Cdc42bpa A G 1: 179,892,655 (GRCm39) Y273C probably damaging Het
Chfr G T 5: 110,292,517 (GRCm39) probably null Het
Dapk1 A T 13: 60,909,476 (GRCm39) Q1363L probably benign Het
Ddx23 A T 15: 98,548,651 (GRCm39) D352E possibly damaging Het
Ect2 T C 3: 27,152,474 (GRCm39) probably benign Het
Efcab10 A C 12: 33,448,592 (GRCm39) D107A probably damaging Het
Fcgr4 G A 1: 170,853,233 (GRCm39) G146D possibly damaging Het
Fgd5 A G 6: 91,966,322 (GRCm39) T694A possibly damaging Het
Ghr T C 15: 3,370,409 (GRCm39) D152G probably damaging Het
Gli2 A C 1: 118,765,445 (GRCm39) L902R probably damaging Het
Glis2 G A 16: 4,429,172 (GRCm39) G125D possibly damaging Het
Gmcl1 A G 6: 86,698,394 (GRCm39) Y168H probably damaging Het
Golga4 A G 9: 118,388,764 (GRCm39) K1962R possibly damaging Het
Hebp1 T A 6: 135,145,055 (GRCm39) E14V probably damaging Het
Hhla1 A C 15: 65,820,339 (GRCm39) I137S probably damaging Het
Hivep1 A G 13: 42,337,934 (GRCm39) H2671R possibly damaging Het
Hltf A G 3: 20,113,098 (GRCm39) Y19C probably damaging Het
Hsd3b2 A T 3: 98,619,333 (GRCm39) M204K probably benign Het
Hspa4l A T 3: 40,736,031 (GRCm39) I551F probably benign Het
Itpkc A T 7: 26,927,490 (GRCm39) D141E probably damaging Het
Kcnc3 A G 7: 44,248,296 (GRCm39) D757G probably benign Het
Mettl16 A T 11: 74,678,474 (GRCm39) Y141F probably damaging Het
Mfng G A 15: 78,640,840 (GRCm39) R302C probably damaging Het
Mogs T A 6: 83,094,363 (GRCm39) S393R probably damaging Het
Nfat5 T C 8: 108,093,765 (GRCm39) S150P probably benign Het
Or2w1 T C 13: 21,316,978 (GRCm39) V11A probably benign Het
Or7d10 A T 9: 19,832,237 (GRCm39) H244L probably damaging Het
Pcdh12 A G 18: 38,416,805 (GRCm39) S107P probably damaging Het
Phf21a G A 2: 92,182,120 (GRCm39) D463N probably damaging Het
Picalm A C 7: 89,844,908 (GRCm39) I567L probably benign Het
Pla2g4a T A 1: 149,808,428 (GRCm39) D5V possibly damaging Het
Sspo C T 6: 48,428,305 (GRCm39) T222M probably benign Het
Stard9 T C 2: 120,535,067 (GRCm39) S3775P probably damaging Het
Stk31 A T 6: 49,446,243 (GRCm39) D982V probably damaging Het
Tas2r113 C T 6: 132,870,644 (GRCm39) T224I probably damaging Het
Tbc1d15 T C 10: 115,055,112 (GRCm39) D310G probably damaging Het
Tcf12 G T 9: 71,766,229 (GRCm39) T468K possibly damaging Het
Tenm4 A G 7: 96,171,640 (GRCm39) probably benign Het
Tet2 A G 3: 133,172,542 (GRCm39) Y1907H possibly damaging Het
Thsd7a T C 6: 12,379,388 (GRCm39) probably null Het
Tln1 T A 4: 43,539,508 (GRCm39) T1605S probably benign Het
Trp53bp1 T C 2: 121,087,083 (GRCm39) Y191C probably benign Het
Ugcg T A 4: 59,220,272 (GRCm39) I355N probably damaging Het
Vmn1r21 A T 6: 57,820,891 (GRCm39) D184E probably damaging Het
Vsig10l T A 7: 43,117,439 (GRCm39) D575E probably damaging Het
Zan G A 5: 137,462,791 (GRCm39) T796I unknown Het
Zfp639 A G 3: 32,573,271 (GRCm39) D61G probably damaging Het
Other mutations in Mrps28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01604:Mrps28 APN 3 8,965,130 (GRCm39) missense probably damaging 1.00
IGL01895:Mrps28 APN 3 8,965,119 (GRCm39) missense probably damaging 1.00
R1423:Mrps28 UTSW 3 8,965,184 (GRCm39) missense probably benign 0.00
R1462:Mrps28 UTSW 3 8,965,184 (GRCm39) missense possibly damaging 0.50
R1462:Mrps28 UTSW 3 8,965,184 (GRCm39) missense possibly damaging 0.50
R3034:Mrps28 UTSW 3 8,988,675 (GRCm39) missense probably benign 0.03
R4917:Mrps28 UTSW 3 8,947,614 (GRCm39) intron probably benign
R4918:Mrps28 UTSW 3 8,947,614 (GRCm39) intron probably benign
R5119:Mrps28 UTSW 3 8,988,756 (GRCm39) missense possibly damaging 0.77
R6029:Mrps28 UTSW 3 8,988,805 (GRCm39) missense possibly damaging 0.56
R6229:Mrps28 UTSW 3 8,965,097 (GRCm39) missense probably damaging 1.00
R6459:Mrps28 UTSW 3 8,965,040 (GRCm39) splice site probably null
R7845:Mrps28 UTSW 3 8,988,775 (GRCm39) missense possibly damaging 0.48
R9075:Mrps28 UTSW 3 8,867,312 (GRCm39) missense probably benign 0.01
R9079:Mrps28 UTSW 3 8,867,308 (GRCm39) makesense probably null
R9645:Mrps28 UTSW 3 8,867,389 (GRCm39) missense probably damaging 1.00
Z1177:Mrps28 UTSW 3 8,988,806 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GTCAACATGTCAACACTGAATGTC -3'
(R):5'- TCTCCAAAACCTGTGGAGTCC -3'

Sequencing Primer
(F):5'- TTATCAGGCTGGCCTCGAAATCAG -3'
(R):5'- AAAACCTGTGGAGTCCTTCGC -3'
Posted On 2017-06-26