Incidental Mutation 'R5302:Mrps26'
ID 404285
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 042885-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.882) question?
Stock # R5302 (G1)
Quality Score 217
Status Not validated
Chromosome 2
Chromosomal Location 130405677-130407314 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 130406087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 100 (T100K)
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 benign
Transcript: ENSMUST00000145614
AA Change: T100K

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000123324
Gene: ENSMUSG00000037740
AA Change: T100K

DomainStartEndE-ValueType
low complexity region 7 27 N/A INTRINSIC
Pfam:MRP-S26 28 197 8.1e-59 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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. 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,323,111 (GRCm39) V1657A possibly damaging Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Acot5 A G 12: 84,120,215 (GRCm39) Y190C probably damaging Het
Ascc3 T A 10: 50,583,873 (GRCm39) Y941N probably benign Het
BC035947 A T 1: 78,488,599 (GRCm39) M1K probably null Het
C2cd5 A G 6: 143,019,482 (GRCm39) C278R probably benign Het
Cd200r1 G T 16: 44,613,172 (GRCm39) L259F possibly damaging Het
Clcn4 A G 7: 7,297,050 (GRCm39) V136A possibly damaging Het
Cntnap5a T C 1: 116,085,300 (GRCm39) S413P probably benign Het
Corin T A 5: 72,473,441 (GRCm39) E748D probably benign Het
Crtc2 G T 3: 90,168,325 (GRCm39) G356V probably damaging Het
D1Pas1 T A 1: 186,701,642 (GRCm39) Y524N probably damaging Het
Dlgap4 T C 2: 156,602,818 (GRCm39) S147P probably damaging Het
Eif1ad16 T A 12: 87,985,316 (GRCm39) I76F probably damaging Het
Enpp1 A T 10: 24,527,288 (GRCm39) I633N probably benign Het
Gm3095 A G 14: 15,170,367 (GRCm39) D72G probably null Het
Gm5449 C T 13: 53,679,787 (GRCm39) noncoding transcript Het
Gpx7 T C 4: 108,258,111 (GRCm39) T161A probably benign Het
Grip1 T C 10: 119,855,982 (GRCm39) L236P probably damaging Het
H2-Q2 G T 17: 35,563,885 (GRCm39) R255S probably damaging Het
Il17rc G T 6: 113,459,997 (GRCm39) A648S possibly damaging Het
Klhl12 A G 1: 134,417,189 (GRCm39) E540G possibly damaging Het
Mcm10 T C 2: 5,012,181 (GRCm39) I135V probably benign Het
Nid2 A G 14: 19,829,769 (GRCm39) T687A probably benign Het
Npas3 A T 12: 54,115,619 (GRCm39) D829V probably damaging Het
Ocln T C 13: 100,642,807 (GRCm39) D176G probably damaging Het
Or11h6 A G 14: 50,879,776 (GRCm39) probably null Het
Pax3 A C 1: 78,098,249 (GRCm39) M380R possibly damaging Het
Pcdha3 A G 18: 37,081,208 (GRCm39) E650G probably damaging Het
Pdcd11 C A 19: 47,096,083 (GRCm39) H668N probably damaging Het
Polr3b T C 10: 84,535,264 (GRCm39) Y858H possibly damaging Het
Pus10 T C 11: 23,617,416 (GRCm39) probably null Het
Raver1 T C 9: 20,986,677 (GRCm39) D739G probably damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Slc26a11 T C 11: 119,254,276 (GRCm39) L198P probably damaging Het
Slc44a3 A G 3: 121,303,962 (GRCm39) V258A probably damaging Het
Socs7 T A 11: 97,280,025 (GRCm39) I524N probably damaging Het
Steap4 T A 5: 8,025,547 (GRCm39) L36* probably null Het
Svep1 G C 4: 58,096,183 (GRCm39) T1479S possibly damaging Het
Ttn C A 2: 76,547,619 (GRCm39) V32184F probably damaging Het
Vmn1r22 T C 6: 57,877,960 (GRCm39) N6D possibly 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
R5091:Mrps26 UTSW 2 130,405,886 (GRCm39) missense probably damaging 1.00
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'- ATTCTTCGTGTTGACCGAGCG -3'
(R):5'- TTTCAGTTGCACCCAAGCC -3'

Sequencing Primer
(F):5'- TGTTGACCGAGCGCTACC -3'
(R):5'- AAGCCTGCTCCTCCTGAG -3'
Posted On 2016-07-22