Incidental Mutation 'R9195:Mrpl36'
ID 697917
Institutional Source Beutler Lab
Gene Symbol Mrpl36
Ensembl Gene ENSMUSG00000021607
Gene Name mitochondrial ribosomal protein L36
Synonyms
MMRRC Submission 068954-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R9195 (G1)
Quality Score 221.009
Status Validated
Chromosome 13
Chromosomal Location 73479128-73480297 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 73479498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 3 (A3T)
Ref Sequence ENSEMBL: ENSMUSP00000022098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022097] [ENSMUST00000022098] [ENSMUST00000147407] [ENSMUST00000221730] [ENSMUST00000222030] [ENSMUST00000222930] [ENSMUST00000223293]
AlphaFold Q99N90
Predicted Effect probably benign
Transcript: ENSMUST00000022097
SMART Domains Protein: ENSMUSP00000022097
Gene: ENSMUSG00000021606

DomainStartEndE-ValueType
Pfam:zf-CHCC 73 112 1.7e-21 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000022098
AA Change: A3T
SMART Domains Protein: ENSMUSP00000022098
Gene: ENSMUSG00000021607
AA Change: A3T

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:Ribosomal_L36 65 102 3.1e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147407
Predicted Effect unknown
Transcript: ENSMUST00000221730
AA Change: A3T
Predicted Effect unknown
Transcript: ENSMUST00000222030
AA Change: A3T
Predicted Effect probably benign
Transcript: ENSMUST00000222930
Predicted Effect probably benign
Transcript: ENSMUST00000223293
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (39/39)
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 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 2p. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot10 G C 15: 20,665,517 (GRCm39) T408R probably damaging Het
Ak9 A G 10: 41,283,479 (GRCm39) Y1310C Het
Atp6v1c1 T A 15: 38,674,198 (GRCm39) F64I probably damaging Het
Bahcc1 A G 11: 120,167,337 (GRCm39) E1246G probably benign Het
Brca2 T A 5: 150,463,418 (GRCm39) S1061T possibly damaging Het
Brd10 A G 19: 29,763,703 (GRCm39) I124T Het
Cep83 A G 10: 94,604,801 (GRCm39) R505G possibly damaging Het
Clasp2 A G 9: 113,671,045 (GRCm39) E382G probably benign Het
Cnksr3 A T 10: 7,088,379 (GRCm39) H235Q probably damaging Het
Ctsh A T 9: 89,944,815 (GRCm39) H90L probably benign Het
Cybrd1 G A 2: 70,968,742 (GRCm39) G205D probably damaging Het
Cyfip2 A T 11: 46,161,455 (GRCm39) I345N probably damaging Het
Ech1 T C 7: 28,525,446 (GRCm39) L67P probably damaging Het
Ect2l T C 10: 18,018,836 (GRCm39) N612S probably benign Het
Gm8186 T A 17: 26,318,092 (GRCm39) D35V probably damaging Het
Ighv1-15 T C 12: 114,621,139 (GRCm39) H62R probably benign Het
Kcns1 A T 2: 164,009,778 (GRCm39) L327Q probably damaging Het
Lbr T C 1: 181,663,837 (GRCm39) K61R probably benign Het
Nectin3 G A 16: 46,279,259 (GRCm39) R240* probably null Het
Nek10 T C 14: 14,821,139 (GRCm38) L35P probably benign Het
Nr1d1 A G 11: 98,659,883 (GRCm39) V547A possibly damaging Het
Obscn A T 11: 58,942,040 (GRCm39) I4445N probably damaging Het
Or51i2 T C 7: 103,689,345 (GRCm39) I114T probably damaging Het
Pcdhgb1 T G 18: 37,814,157 (GRCm39) V216G probably damaging Het
Pklr T C 3: 89,048,636 (GRCm39) S100P probably damaging Het
R3hdm1 T A 1: 128,089,975 (GRCm39) S70T probably benign Het
Rec114 T G 9: 58,567,534 (GRCm39) T151P probably benign Het
Riok3 TTTCATT TTT 18: 12,282,642 (GRCm39) probably null Het
Slc33a1 A G 3: 63,871,188 (GRCm39) S142P probably damaging Het
Slc4a4 T A 5: 89,281,055 (GRCm39) N407K possibly damaging Het
Slc5a4b A G 10: 75,898,149 (GRCm39) C522R probably damaging Het
Tcim A T 8: 24,928,878 (GRCm39) M12K probably damaging Het
Tenm4 T A 7: 96,542,126 (GRCm39) Y1917N probably damaging Het
Ttll1 A G 15: 83,373,779 (GRCm39) Y345H probably benign Het
Urb1 A G 16: 90,589,638 (GRCm39) V381A probably benign Het
Wnt16 T C 6: 22,297,932 (GRCm39) M266T probably benign Het
Zfyve26 T C 12: 79,311,168 (GRCm39) I1562V probably benign Het
Other mutations in Mrpl36
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2018:Mrpl36 UTSW 13 73,479,687 (GRCm39) missense probably damaging 1.00
R2177:Mrpl36 UTSW 13 73,479,588 (GRCm39) missense probably benign 0.01
R4289:Mrpl36 UTSW 13 73,479,777 (GRCm39) splice site probably null
X0067:Mrpl36 UTSW 13 73,479,520 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TGATTAAGGACTTCTCCGCC -3'
(R):5'- TGGTTTTGAAGCCCAGCGAG -3'

Sequencing Primer
(F):5'- TGAGTGAGCCTCCGGAATCTG -3'
(R):5'- CGAGGGCAGCAGGGTCG -3'
Posted On 2022-02-07