Incidental Mutation 'IGL01895:Mrps28'
ID 179354
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps28
Ensembl Gene ENSMUSG00000040269
Gene Name mitochondrial ribosomal protein S28
Synonyms 1500012D08Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.427) question?
Stock # IGL01895
Quality Score
Status
Chromosome 3
Chromosomal Location 8867206-8988917 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 8965119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 107 (V107M)
Ref Sequence ENSEMBL: ENSMUSP00000038305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042148]
AlphaFold Q9CY16
Predicted Effect probably damaging
Transcript: ENSMUST00000042148
AA Change: V107M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038305
Gene: ENSMUSG00000040269
AA Change: V107M

DomainStartEndE-ValueType
S1 94 158 1.69e0 SMART
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 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A T 7: 45,678,482 (GRCm39) I56N possibly damaging Het
Akr1c13 A T 13: 4,255,372 (GRCm39) E321V possibly damaging Het
Atp8b3 A T 10: 80,357,662 (GRCm39) V1119D possibly damaging Het
Cacna1e G T 1: 154,319,646 (GRCm39) F1351L probably damaging Het
Cadps2 A G 6: 23,427,274 (GRCm39) W585R probably damaging Het
Ccdc113 C T 8: 96,263,086 (GRCm39) probably benign Het
Ccer1 A T 10: 97,529,912 (GRCm39) I192F unknown Het
Chd8 T C 14: 52,436,551 (GRCm39) N90S probably benign Het
Clca3a1 A T 3: 144,453,333 (GRCm39) C463* probably null Het
Cplane1 T A 15: 8,258,591 (GRCm39) V2279E possibly damaging Het
Cyp2c65 T A 19: 39,060,676 (GRCm39) C179S possibly damaging Het
Dennd4b A G 3: 90,182,874 (GRCm39) Q35R probably benign Het
Enpep T C 3: 129,063,983 (GRCm39) E928G possibly damaging Het
Fem1c T C 18: 46,638,629 (GRCm39) T458A probably benign Het
Fezf2 A T 14: 12,342,498 (GRCm38) *456R probably null Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Iqcm T G 8: 76,615,188 (GRCm39) L423R probably damaging Het
Kcnc4 C A 3: 107,355,534 (GRCm39) V305L probably benign Het
Kif1a G A 1: 92,953,455 (GRCm39) T1337I possibly damaging Het
Lpxn A G 19: 12,810,450 (GRCm39) D298G probably damaging Het
Lypd8 A G 11: 58,281,046 (GRCm39) T203A possibly damaging Het
Myo15b A G 11: 115,774,324 (GRCm39) E586G possibly damaging Het
Pdzk1 C T 3: 96,776,417 (GRCm39) A459V possibly damaging Het
Rbpj A G 5: 53,808,728 (GRCm39) D285G probably damaging Het
Rimbp3 T C 16: 17,029,300 (GRCm39) L908P probably damaging Het
Samd4b T C 7: 28,101,334 (GRCm39) probably null Het
Slc28a2b A C 2: 122,355,572 (GRCm39) Y588S possibly damaging Het
Stau2 C T 1: 16,416,161 (GRCm39) G401S probably damaging Het
Trpa1 A T 1: 14,957,867 (GRCm39) I697K possibly damaging Het
Ttc17 A C 2: 94,205,491 (GRCm39) V285G possibly damaging Het
Unc5b A G 10: 60,602,864 (GRCm39) F845S probably damaging Het
Vmn1r19 A T 6: 57,382,245 (GRCm39) Q266L probably benign Het
Vmn2r106 T C 17: 20,499,227 (GRCm39) N228S probably benign Het
Vps13d A G 4: 144,882,836 (GRCm39) F919S possibly damaging Het
Zbtb38 C T 9: 96,570,461 (GRCm39) V208I probably benign Het
Zfp990 A T 4: 145,263,427 (GRCm39) T142S probably damaging Het
Zfp990 C A 4: 145,263,428 (GRCm39) T142N probably damaging Het
Other mutations in Mrps28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01604:Mrps28 APN 3 8,965,130 (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
R6012:Mrps28 UTSW 3 8,965,044 (GRCm39) critical splice donor site probably null
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
Posted On 2014-05-07