Incidental Mutation 'R4641:Mrps25'
ID 351638
Institutional Source Beutler Lab
Gene Symbol Mrps25
Ensembl Gene ENSMUSG00000014551
Gene Name mitochondrial ribosomal protein S25
Synonyms 2810429N01Rik, Rpms25
MMRRC Submission 041903-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4641 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 92146506-92161014 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92160881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 25 (E25G)
Ref Sequence ENSEMBL: ENSMUSP00000114402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014694] [ENSMUST00000140438]
AlphaFold Q9D125
Predicted Effect probably benign
Transcript: ENSMUST00000014694
SMART Domains Protein: ENSMUSP00000014694
Gene: ENSMUSG00000014550

DomainStartEndE-ValueType
ZnF_C2H2 14 37 4.45e0 SMART
low complexity region 53 64 N/A INTRINSIC
FYVE 148 260 2e-10 SMART
coiled coil region 377 412 N/A INTRINSIC
Pfam:Rbsn 457 498 9e-21 PFAM
low complexity region 512 535 N/A INTRINSIC
Pfam:NPF 547 736 2.3e-61 PFAM
Pfam:Rbsn 737 778 6.5e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134132
Predicted Effect probably benign
Transcript: ENSMUST00000140438
AA Change: E25G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000114402
Gene: ENSMUSG00000014551
AA Change: E25G

DomainStartEndE-ValueType
L51_S25_CI-B8 36 109 8.78e-16 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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. A pseudogene corresponding to this gene is found on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G A 10: 79,841,615 (GRCm39) probably null Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Dsg3 T A 18: 20,653,615 (GRCm39) F54I probably benign Het
Ehbp1 G A 11: 22,045,892 (GRCm39) S619L probably benign Het
Eif1ad3 A G 12: 87,843,446 (GRCm39) Y31C probably damaging Het
Eif1ad5 A G 12: 87,946,852 (GRCm39) D98G probably benign Het
Erlec1 G A 11: 30,898,442 (GRCm39) Q10* probably null Het
Fbxw14 A G 9: 109,107,750 (GRCm39) probably null Het
Fhod1 C T 8: 106,056,224 (GRCm39) R1163H probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm4846 G A 1: 166,311,462 (GRCm39) P466S probably damaging Het
Ift122 A T 6: 115,865,726 (GRCm39) K339* probably null Het
Il6st T C 13: 112,625,064 (GRCm39) S227P probably damaging Het
Letmd1 A G 15: 100,375,708 (GRCm39) Y198C probably damaging Het
Map3k4 A T 17: 12,482,932 (GRCm39) L595Q probably damaging Het
Mdc1 C G 17: 36,168,361 (GRCm39) R1656G probably benign Het
Megf11 C T 9: 64,597,407 (GRCm39) S662L possibly damaging Het
Myh2 G T 11: 67,085,520 (GRCm39) G1815C probably damaging Het
Myo15a A G 11: 60,393,867 (GRCm39) D2353G probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
P2rx5 A T 11: 73,058,390 (GRCm39) H275L possibly damaging Het
Pyroxd1 C G 6: 142,300,467 (GRCm39) S199* probably null Het
Rnf123 T C 9: 107,935,786 (GRCm39) D920G probably damaging Het
Slc44a2 A G 9: 21,258,178 (GRCm39) Y474C probably damaging Het
Slc9a4 T A 1: 40,646,285 (GRCm39) F439I probably damaging Het
Snap91 A G 9: 86,761,528 (GRCm39) V26A probably damaging Het
Spata31d1c C A 13: 65,182,862 (GRCm39) Q135K probably benign Het
Stard8 AGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGA X: 98,110,114 (GRCm39) probably benign Het
Tlk2 T C 11: 105,166,809 (GRCm39) I669T probably benign Het
Tmem273 A G 14: 32,528,839 (GRCm39) D68G probably damaging Het
Ttc38 T C 15: 85,728,659 (GRCm39) S204P possibly damaging Het
Ttn T A 2: 76,617,155 (GRCm39) Y16403F probably damaging Het
Ttyh2 G T 11: 114,592,609 (GRCm39) W213L probably damaging Het
Ugt2a2 A T 5: 87,610,755 (GRCm39) D360E probably damaging Het
Vwa5b2 A T 16: 20,423,393 (GRCm39) H1102L probably damaging Het
Zbtb41 A T 1: 139,370,557 (GRCm39) T665S probably damaging Het
Zfp292 T C 4: 34,807,828 (GRCm39) I1739V probably damaging Het
Other mutations in Mrps25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02827:Mrps25 APN 6 92,152,163 (GRCm39) missense probably benign
R1157:Mrps25 UTSW 6 92,160,947 (GRCm39) missense probably damaging 0.98
R1847:Mrps25 UTSW 6 92,155,721 (GRCm39) missense probably damaging 1.00
R4762:Mrps25 UTSW 6 92,152,085 (GRCm39) missense probably damaging 1.00
R6241:Mrps25 UTSW 6 92,160,819 (GRCm39) critical splice donor site probably null
R8337:Mrps25 UTSW 6 92,152,745 (GRCm39) missense probably benign 0.09
R9733:Mrps25 UTSW 6 92,155,715 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGCGGAAACTTACTACTCCG -3'
(R):5'- AAACTACGAGTCCCAGGCTG -3'

Sequencing Primer
(F):5'- TACTACTCCGCTCCCAAGG -3'
(R):5'- CTTGAGGAGTTCCTGACTT -3'
Posted On 2015-10-08