Incidental Mutation 'R9530:Mrpl21'
ID 719462
Institutional Source Beutler Lab
Gene Symbol Mrpl21
Ensembl Gene ENSMUSG00000024829
Gene Name mitochondrial ribosomal protein L21
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R9530 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 3332997-3342837 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3340998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 196 (I196N)
Ref Sequence ENSEMBL: ENSMUSP00000025743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025743] [ENSMUST00000025745] [ENSMUST00000141610]
AlphaFold Q9D1N9
Predicted Effect possibly damaging
Transcript: ENSMUST00000025743
AA Change: I196N

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025743
Gene: ENSMUSG00000024829
AA Change: I196N

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Ribosomal_L21p 99 197 7.5e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025745
SMART Domains Protein: ENSMUSP00000025745
Gene: ENSMUSG00000024829

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Ribosomal_L21p 99 192 6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141610
SMART Domains Protein: ENSMUSP00000120330
Gene: ENSMUSG00000024829

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
PDB:4CE4|V 14 53 1e-5 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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 39S subunit protein. Multiple transcript variants encoding different isoforms were identified through sequence analysis although some may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A G 7: 41,274,165 (GRCm39) N96S possibly damaging Het
Acsl6 C T 11: 54,220,783 (GRCm39) T301I probably damaging Het
Ankrd7 C A 6: 18,868,258 (GRCm39) Q127K probably benign Het
Ap1s1 T C 5: 137,064,612 (GRCm39) M155V probably benign Het
Appbp2 A C 11: 85,107,306 (GRCm39) C61W probably damaging Het
Atosb C T 4: 43,034,753 (GRCm39) R322Q probably damaging Het
Ccng1 A G 11: 40,644,885 (GRCm39) V4A probably benign Het
Cd163 G T 6: 124,294,491 (GRCm39) E550* probably null Het
Cdh2 A G 18: 16,783,466 (GRCm39) Y88H probably damaging Het
Cyp2c69 A G 19: 39,848,311 (GRCm39) S304P possibly damaging Het
Dync2i1 A G 12: 116,175,411 (GRCm39) I922T possibly damaging Het
Erbb3 T C 10: 128,410,291 (GRCm39) I656V probably benign Het
Fhod3 T A 18: 25,248,910 (GRCm39) I1363K probably damaging Het
Garre1 A G 7: 33,963,069 (GRCm39) V201A probably benign Het
Heatr1 G A 13: 12,439,607 (GRCm39) R1395H probably damaging Het
Herc4 T C 10: 63,126,382 (GRCm39) I578T probably benign Het
Herc6 T A 6: 57,602,899 (GRCm39) L526* probably null Het
Ighv5-9 A G 12: 113,625,677 (GRCm39) M22T probably benign Het
Klhl36 A G 8: 120,591,808 (GRCm39) E17G possibly damaging Het
Mast2 A C 4: 116,169,535 (GRCm39) L766R probably damaging Het
Megf8 G A 7: 25,030,124 (GRCm39) V420M probably benign Het
Met T C 6: 17,558,831 (GRCm39) V1153A probably damaging Het
Or7g21 G A 9: 19,033,051 (GRCm39) V264I probably benign Het
Polrmt C T 10: 79,574,545 (GRCm39) A883T probably benign Het
Prkcg G A 7: 3,375,965 (GRCm39) D537N possibly damaging Het
Rpap3 A T 15: 97,579,655 (GRCm39) D452E probably benign Het
Slc8a2 A G 7: 15,879,269 (GRCm39) D585G probably null Het
St18 T A 1: 6,872,997 (GRCm39) I244N probably benign Het
Stat1 T A 1: 52,187,160 (GRCm39) probably null Het
Stk39 A G 2: 68,198,755 (GRCm39) Y288H probably damaging Het
Tas2r140 G A 6: 133,032,494 (GRCm39) S88F probably benign Het
Tbc1d32 T C 10: 56,072,507 (GRCm39) E308G probably damaging Het
Tcf7l1 T C 6: 72,604,687 (GRCm39) T486A probably benign Het
Tie1 T C 4: 118,343,817 (GRCm39) T42A possibly damaging Het
Tnnt2 A G 1: 135,779,793 (GRCm39) T297A possibly damaging Het
Triobp G C 15: 78,886,321 (GRCm39) G1867R probably damaging Het
Vmn1r234 A G 17: 21,449,104 (GRCm39) H6R probably damaging Het
Vmn2r93 T A 17: 18,518,562 (GRCm39) I7N probably damaging Het
Vwa8 T A 14: 79,172,639 (GRCm39) S294T probably benign Het
Yjefn3 A G 8: 70,340,633 (GRCm39) V197A probably benign Het
Zcchc4 CAGAG CAG 5: 52,953,568 (GRCm39) probably null Het
Zfhx3 A G 8: 109,527,010 (GRCm39) E969G probably damaging Het
Zfp112 G T 7: 23,824,665 (GRCm39) C215F probably benign Het
Zfp994 A T 17: 22,420,514 (GRCm39) L145Q probably damaging Het
Other mutations in Mrpl21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03184:Mrpl21 APN 19 3,342,529 (GRCm39) unclassified probably benign
R0079:Mrpl21 UTSW 19 3,334,807 (GRCm39) missense possibly damaging 0.50
R0410:Mrpl21 UTSW 19 3,334,792 (GRCm39) missense possibly damaging 0.83
R0449:Mrpl21 UTSW 19 3,342,459 (GRCm39) unclassified probably benign
R1458:Mrpl21 UTSW 19 3,334,808 (GRCm39) missense possibly damaging 0.75
R4229:Mrpl21 UTSW 19 3,336,901 (GRCm39) missense probably damaging 0.98
R5269:Mrpl21 UTSW 19 3,337,012 (GRCm39) missense probably damaging 1.00
R5327:Mrpl21 UTSW 19 3,337,009 (GRCm39) splice site probably null
R6148:Mrpl21 UTSW 19 3,333,084 (GRCm39) missense probably benign 0.00
R6708:Mrpl21 UTSW 19 3,336,890 (GRCm39) missense probably damaging 1.00
R7219:Mrpl21 UTSW 19 3,336,998 (GRCm39) missense probably benign 0.02
R7840:Mrpl21 UTSW 19 3,337,752 (GRCm39) missense probably damaging 1.00
R8377:Mrpl21 UTSW 19 3,342,487 (GRCm39) missense unknown
R9355:Mrpl21 UTSW 19 3,336,937 (GRCm39) missense probably damaging 1.00
R9476:Mrpl21 UTSW 19 3,337,704 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCAGACCCTGAACCTTAGG -3'
(R):5'- TTAACAGCAAGTCACAGGCTCAG -3'

Sequencing Primer
(F):5'- CTGAACCTTAGGCCACTGAG -3'
(R):5'- AGTCACAGGCTCAGTCTCC -3'
Posted On 2022-07-18