Incidental Mutation 'R5649:Mrpl55'
ID441330
Institutional Source Beutler Lab
Gene Symbol Mrpl55
Ensembl Gene ENSMUSG00000036860
Gene Namemitochondrial ribosomal protein L55
Synonyms
MMRRC Submission 043170-MU
Accession Numbers
Is this an essential gene? Not available question?
Stock #R5649 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location59202486-59206134 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 59204571 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 20 (C20*)
Ref Sequence ENSEMBL: ENSMUSP00000104415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020719] [ENSMUST00000045697] [ENSMUST00000108784] [ENSMUST00000108785] [ENSMUST00000108786] [ENSMUST00000108787]
Predicted Effect probably benign
Transcript: ENSMUST00000020719
SMART Domains Protein: ENSMUSP00000020719
Gene: ENSMUSG00000020441

DomainStartEndE-ValueType
Pfam:MMtag 8 83 5.7e-34 PFAM
low complexity region 117 135 N/A INTRINSIC
low complexity region 180 208 N/A INTRINSIC
low complexity region 215 224 N/A INTRINSIC
low complexity region 250 260 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000045697
AA Change: C13*
SMART Domains Protein: ENSMUSP00000048814
Gene: ENSMUSG00000036860
AA Change: C13*

DomainStartEndE-ValueType
Pfam:Mitoc_L55 6 124 9.7e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000101158
Predicted Effect probably null
Transcript: ENSMUST00000108784
AA Change: C20*
SMART Domains Protein: ENSMUSP00000104412
Gene: ENSMUSG00000036860
AA Change: C20*

DomainStartEndE-ValueType
Pfam:Mitoc_L55 16 131 6.6e-61 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108785
AA Change: C13*
SMART Domains Protein: ENSMUSP00000104413
Gene: ENSMUSG00000036860
AA Change: C13*

DomainStartEndE-ValueType
Pfam:Mitoc_L55 6 124 9.7e-56 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108786
AA Change: C20*
SMART Domains Protein: ENSMUSP00000104414
Gene: ENSMUSG00000036860
AA Change: C20*

DomainStartEndE-ValueType
Pfam:Mitoc_L55 13 131 4.4e-55 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108787
AA Change: C20*
SMART Domains Protein: ENSMUSP00000104415
Gene: ENSMUSG00000036860
AA Change: C20*

DomainStartEndE-ValueType
Pfam:Mitoc_L55 13 131 4.4e-55 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154354
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 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 39S subunit protein. Multiple transcript variants encoding two different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009B22Rik T C 11: 51,685,972 E33G probably benign Het
Abca12 T C 1: 71,291,342 T1385A probably damaging Het
Apc2 T A 10: 80,314,138 D1646E probably damaging Het
Aspm G A 1: 139,479,669 R2098H probably benign Het
Atl3 C A 19: 7,532,227 T435N possibly damaging Het
Cdh22 G T 2: 165,116,280 T589K probably damaging Het
Cnot3 T C 7: 3,658,083 L561S probably benign Het
Col5a1 A G 2: 27,951,456 D363G unknown Het
Cyp24a1 T C 2: 170,496,309 D105G possibly damaging Het
Dennd4a C A 9: 64,851,209 probably null Het
Dnah8 A G 17: 30,800,587 K3878R probably benign Het
Dock4 T C 12: 40,844,540 S1900P probably benign Het
Fancg A G 4: 43,008,736 L167P probably damaging Het
Ighd2-8 A G 12: 113,450,867 S1P possibly damaging Het
Kif28 A G 1: 179,697,771 probably null Het
Myo5a A G 9: 75,171,719 K920E possibly damaging Het
Naa35 G A 13: 59,622,866 probably benign Het
Olfm3 A G 3: 115,096,924 R76G probably damaging Het
Olfr304 T C 7: 86,386,313 M116V probably damaging Het
Olfr705 T C 7: 106,714,166 R172G possibly damaging Het
Pcdha12 A T 18: 37,022,415 D729V probably benign Het
Phf11c T C 14: 59,385,532 probably null Het
Phf20 T A 2: 156,251,768 probably null Het
Plbd1 T A 6: 136,616,989 Y376F probably benign Het
Poglut1 A G 16: 38,531,811 V257A probably damaging Het
Reln A G 5: 21,901,625 I3249T probably benign Het
Rgsl1 G A 1: 153,825,893 P272S possibly damaging Het
Slc15a2 A T 16: 36,772,110 Y197* probably null Het
Slc45a2 C T 15: 11,012,607 T232I probably benign Het
Ssc5d T A 7: 4,926,518 probably null Het
Thbs2 T C 17: 14,689,953 Y128C probably damaging Het
Them4 A T 3: 94,331,544 L219F possibly damaging Het
Tmem30b G T 12: 73,546,166 N58K probably benign Het
Ttc29 G A 8: 78,246,313 E131K possibly damaging Het
Vmn1r29 C G 6: 58,307,691 S132C probably benign Het
Vmn1r53 G A 6: 90,223,760 A194V probably benign Het
Wdr86 A T 5: 24,718,087 H202Q probably benign Het
Xirp2 A G 2: 67,516,895 D3160G probably benign Het
Xkr5 T C 8: 18,933,966 D520G probably benign Het
Zfp607b T G 7: 27,703,981 C621G probably damaging Het
Other mutations in Mrpl55
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Mrpl55 APN 11 59205673 missense probably benign 0.43
Predicted Primers PCR Primer
(F):5'- AGTGTAGTTCAATGGAGGTCC -3'
(R):5'- ACTATGGCTCAGCAAGTACC -3'

Sequencing Primer
(F):5'- GAGGTCCTTAAATGCAAGCCGTC -3'
(R):5'- TATGGCTCAGCAAGTACCTACTG -3'
Posted On2016-11-08