Incidental Mutation 'IGL03184:Mrpl21'
ID 412408
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl21
Ensembl Gene ENSMUSG00000024829
Gene Name mitochondrial ribosomal protein L21
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # IGL03184
Quality Score
Status
Chromosome 19
Chromosomal Location 3332997-3342837 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 3342529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025743] [ENSMUST00000025745] [ENSMUST00000141610]
AlphaFold Q9D1N9
Predicted Effect probably benign
Transcript: ENSMUST00000025743
SMART Domains Protein: ENSMUSP00000025743
Gene: ENSMUSG00000024829

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 noncoding transcript
Transcript: ENSMUST00000139844
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154785
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185105
Coding Region Coverage
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,471,570 (GRCm39) Y992H possibly damaging Het
Actmap A G 7: 26,896,432 (GRCm39) probably benign Het
Adcy7 T A 8: 89,035,271 (GRCm39) D58E probably benign Het
Aff2 G A X: 68,810,840 (GRCm39) V404M possibly damaging Het
Ankhd1 T A 18: 36,780,830 (GRCm39) L1961M probably damaging Het
Brms1l T C 12: 55,915,062 (GRCm39) *324Q probably null Het
Bub1b T C 2: 118,440,258 (GRCm39) probably benign Het
Cacna1b A G 2: 24,548,501 (GRCm39) probably null Het
Clrn1 T A 3: 58,753,645 (GRCm39) T239S probably benign Het
Clta T C 4: 44,025,514 (GRCm39) Y145H probably benign Het
Coro6 T C 11: 77,354,779 (GRCm39) V14A probably damaging Het
Cyp4a30b A G 4: 115,316,216 (GRCm39) D314G probably damaging Het
Fn1 T C 1: 71,648,656 (GRCm39) N1418D probably benign Het
Fshr A C 17: 89,354,068 (GRCm39) L97V possibly damaging Het
Gcm2 T C 13: 41,258,888 (GRCm39) Q152R probably damaging Het
Gcnt2 A G 13: 41,041,660 (GRCm39) N273S probably benign Het
Gm11437 A T 11: 84,047,090 (GRCm39) probably benign Het
Gm4559 A G 7: 141,828,046 (GRCm39) S19P unknown Het
Igsf8 T G 1: 172,146,199 (GRCm39) I462R probably damaging Het
Kirrel3 T C 9: 34,919,052 (GRCm39) F243S probably damaging Het
Krt80 C T 15: 101,250,135 (GRCm39) V37M probably damaging Het
Lama4 T C 10: 38,954,839 (GRCm39) Y1131H probably damaging Het
Mtcl1 T C 17: 66,661,209 (GRCm39) N923S probably benign Het
Nectin2 G A 7: 19,472,231 (GRCm39) P53S possibly damaging Het
Nup98 G A 7: 101,832,752 (GRCm39) T335I probably damaging Het
Or2y1e C A 11: 49,218,568 (GRCm39) T110K probably damaging Het
Or4a74 T C 2: 89,439,912 (GRCm39) D178G probably damaging Het
Or4e5 A G 14: 52,728,380 (GRCm39) S14P probably benign Het
Or51a42 T A 7: 103,708,054 (GRCm39) I252F probably damaging Het
Or6c69c T C 10: 129,910,627 (GRCm39) M116T possibly damaging Het
Pcdhb14 A G 18: 37,582,085 (GRCm39) E397G probably benign Het
Pcgf5 T G 19: 36,412,076 (GRCm39) probably benign Het
Pclo C T 5: 14,764,457 (GRCm39) P1025L probably damaging Het
Pdcd1lg2 C A 19: 29,431,911 (GRCm39) F226L probably benign Het
Pik3ca T A 3: 32,494,035 (GRCm39) S332R probably benign Het
Plek A T 11: 16,931,887 (GRCm39) D321E probably benign Het
Pm20d2 A G 4: 33,179,241 (GRCm39) F333L probably damaging Het
Polk T C 13: 96,620,491 (GRCm39) T570A probably benign Het
Rpgrip1l G A 8: 92,027,437 (GRCm39) L201F probably damaging Het
Serpinb2 T A 1: 107,452,607 (GRCm39) L395H probably damaging Het
Slc9c1 T G 16: 45,368,003 (GRCm39) S197R probably damaging Het
Smg1 T A 7: 117,779,603 (GRCm39) E1264V possibly damaging Het
Sned1 A G 1: 93,202,390 (GRCm39) D678G probably benign Het
Sorcs2 A G 5: 36,188,556 (GRCm39) S851P probably benign Het
Srcap A G 7: 127,129,674 (GRCm39) probably benign Het
Tbck T C 3: 132,441,864 (GRCm39) Y557H probably damaging Het
Tfap2d T C 1: 19,189,110 (GRCm39) S219P probably damaging Het
Trim9 T C 12: 70,297,995 (GRCm39) D570G probably damaging Het
Usp25 A G 16: 76,878,541 (GRCm39) Y655C probably damaging Het
Utrn T A 10: 12,585,910 (GRCm39) T956S probably benign Het
Vmn1r68 T A 7: 10,261,799 (GRCm39) I100F probably benign Het
Vps13a A T 19: 16,631,734 (GRCm39) S2634T probably benign Het
Zfp472 T A 17: 33,196,390 (GRCm39) L155* probably null Het
Zfp808 A G 13: 62,317,381 (GRCm39) I43M possibly damaging Het
Other mutations in Mrpl21
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9530:Mrpl21 UTSW 19 3,340,998 (GRCm39) missense possibly damaging 0.93
Posted On 2016-08-02