Incidental Mutation 'R5091:Mrps26'
ID 387736
Institutional Source Beutler Lab
Gene Symbol Mrps26
Ensembl Gene ENSMUSG00000037740
Gene Name mitochondrial ribosomal protein S26
Synonyms MRP-S13, GI008, Rpms13, MRP-S26
MMRRC Submission 042680-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.882) question?
Stock # R5091 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 130405677-130407314 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130405886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 63 (Y63C)
Ref Sequence ENSEMBL: ENSMUSP00000123324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000145614]
AlphaFold Q80ZS3
Predicted Effect noncoding transcript
Transcript: ENSMUST00000046149
Predicted Effect noncoding transcript
Transcript: ENSMUST00000079964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136793
Predicted Effect probably damaging
Transcript: ENSMUST00000145614
AA Change: Y63C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123324
Gene: ENSMUSG00000037740
AA Change: Y63C

DomainStartEndE-ValueType
low complexity region 7 27 N/A INTRINSIC
Pfam:MRP-S26 28 197 8.1e-59 PFAM
Meta Mutation Damage Score 0.6839 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 96% (67/70)
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. This gene lies adjacent to and downstream of the gonadotropin-releasing hormone precursor gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik A G 13: 54,701,057 (GRCm39) S174P probably damaging Het
4931414P19Rik T C 14: 54,823,168 (GRCm39) E343G probably damaging Het
Abca14 T C 7: 119,851,497 (GRCm39) V825A probably damaging Het
Abca8b G T 11: 109,827,210 (GRCm39) T1466K possibly damaging Het
Adcy8 A G 15: 64,678,553 (GRCm39) S467P probably damaging Het
Agbl4 T C 4: 110,976,237 (GRCm39) V198A possibly damaging Het
Agpat4 A G 17: 12,417,699 (GRCm39) K80R probably benign Het
Akap8 T C 17: 32,535,208 (GRCm39) T269A probably benign Het
Ankhd1 A T 18: 36,758,080 (GRCm39) I925F possibly damaging Het
Aste1 A G 9: 105,282,203 (GRCm39) Y57C probably damaging Het
Axdnd1 A G 1: 156,247,980 (GRCm39) S7P possibly damaging Het
BC051019 T A 7: 109,319,789 (GRCm39) R91S probably null Het
Cavin2 C A 1: 51,340,398 (GRCm39) N358K probably benign Het
Cd2 T C 3: 101,190,355 (GRCm39) N196S probably benign Het
Clca3a1 C T 3: 144,436,483 (GRCm39) V867I probably benign Het
Col6a4 T A 9: 105,952,262 (GRCm39) K545N probably damaging Het
Cps1 T A 1: 67,268,679 (GRCm39) probably null Het
Cyp2c65 A T 19: 39,076,009 (GRCm39) probably null Het
Dcaf6 T C 1: 165,157,572 (GRCm39) D856G possibly damaging Het
Epcam T C 17: 87,949,580 (GRCm39) I181T probably damaging Het
Esrp2 A G 8: 106,859,061 (GRCm39) S562P probably damaging Het
Fcgbpl1 A C 7: 27,856,383 (GRCm39) I2057L probably benign Het
Ffar4 A G 19: 38,085,627 (GRCm39) D18G probably benign Het
Gen1 C T 12: 11,296,347 (GRCm39) V337I probably damaging Het
Gimap8 C T 6: 48,633,581 (GRCm39) P467S possibly damaging Het
Gnl3 T A 14: 30,738,803 (GRCm39) H82L possibly damaging Het
Grid2 T C 6: 64,053,862 (GRCm39) S354P probably benign Het
Ighmbp2 T A 19: 3,315,084 (GRCm39) T779S possibly damaging Het
Ints15 C T 5: 143,293,443 (GRCm39) E345K possibly damaging Het
Kif19a C A 11: 114,673,923 (GRCm39) T348N probably damaging Het
Lrrc15 T A 16: 30,092,172 (GRCm39) N389I probably damaging Het
Myd88 C A 9: 119,166,889 (GRCm39) V223F possibly damaging Het
Nox4 T A 7: 87,025,450 (GRCm39) W526R probably damaging Het
Nrg2 A T 18: 36,185,838 (GRCm39) N300K probably damaging Het
Nsmf T C 2: 24,950,464 (GRCm39) probably benign Het
Patl2 A C 2: 121,954,283 (GRCm39) H429Q probably benign Het
Pcdhb12 A T 18: 37,568,907 (GRCm39) K18* probably null Het
Peg10 T A 6: 4,754,511 (GRCm39) D97E probably benign Het
Runx1t1 C T 4: 13,846,830 (GRCm39) Q205* probably null Het
Selenon T C 4: 134,275,284 (GRCm39) K138R probably damaging Het
Slc13a3 T C 2: 165,262,000 (GRCm39) E369G probably benign Het
Sorcs1 A G 19: 50,248,190 (GRCm39) probably null Het
Sptbn4 A T 7: 27,068,816 (GRCm39) M499K probably damaging Het
Sra1 A T 18: 36,803,012 (GRCm39) probably benign Het
Stra6 T C 9: 58,048,429 (GRCm39) L174P probably damaging Het
Syngr1 T C 15: 80,000,086 (GRCm39) Y66H probably damaging Het
Synpo G T 18: 60,735,831 (GRCm39) S466* probably null Het
Tenm3 T A 8: 48,795,343 (GRCm39) M595L probably benign Het
Tnks T C 8: 35,308,963 (GRCm39) T1099A probably benign Het
Tram1l1 G T 3: 124,115,400 (GRCm39) V187F possibly damaging Het
Trappc11 T C 8: 47,965,639 (GRCm39) E529G probably benign Het
Usp17la T C 7: 104,510,139 (GRCm39) V248A probably damaging Het
Virma T C 4: 11,519,392 (GRCm39) Y880H probably benign Het
Vmn1r214 C T 13: 23,219,571 (GRCm39) T355I possibly damaging Het
Vmn2r7 T C 3: 64,598,205 (GRCm39) K784R possibly damaging Het
Wrap53 C T 11: 69,453,273 (GRCm39) W389* probably null Het
Zfp748 A G 13: 67,689,638 (GRCm39) S541P probably damaging Het
Other mutations in Mrps26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03267:Mrps26 APN 2 130,406,856 (GRCm39) critical splice acceptor site probably null
R0608:Mrps26 UTSW 2 130,405,778 (GRCm39) missense possibly damaging 0.93
R1188:Mrps26 UTSW 2 130,406,301 (GRCm39) missense probably damaging 1.00
R2054:Mrps26 UTSW 2 130,406,087 (GRCm39) missense probably benign 0.05
R2850:Mrps26 UTSW 2 130,406,967 (GRCm39) missense probably benign 0.03
R4519:Mrps26 UTSW 2 130,406,269 (GRCm39) missense probably benign
R4851:Mrps26 UTSW 2 130,405,681 (GRCm39) utr 5 prime probably benign
R4930:Mrps26 UTSW 2 130,406,862 (GRCm39) missense probably damaging 1.00
R5302:Mrps26 UTSW 2 130,406,087 (GRCm39) missense probably benign 0.05
R8277:Mrps26 UTSW 2 130,406,347 (GRCm39) missense probably damaging 1.00
R9185:Mrps26 UTSW 2 130,405,769 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCATGTTGCGCGCTCTGAAC -3'
(R):5'- CTTTCAGTTGCACCCAAGC -3'

Sequencing Primer
(F):5'- CGCTCTGAACCGCCTGG -3'
(R):5'- GTGCTTCCAGCTGCAACC -3'
Posted On 2016-06-06