Incidental Mutation 'IGL00904:Mrpl55'
ID28493
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl55
Ensembl Gene ENSMUSG00000036860
Gene Namemitochondrial ribosomal protein L55
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00904
Quality Score
Status
Chromosome11
Chromosomal Location59202486-59206134 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 59205673 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 84 (S84T)
Ref Sequence ENSEMBL: ENSMUSP00000104413 (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 benign
Transcript: ENSMUST00000045697
AA Change: S84T

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000048814
Gene: ENSMUSG00000036860
AA Change: S84T

DomainStartEndE-ValueType
Pfam:Mitoc_L55 6 124 9.7e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000101158
Predicted Effect probably benign
Transcript: ENSMUST00000108784
AA Change: S91T

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104412
Gene: ENSMUSG00000036860
AA Change: S91T

DomainStartEndE-ValueType
Pfam:Mitoc_L55 16 131 6.6e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108785
AA Change: S84T

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104413
Gene: ENSMUSG00000036860
AA Change: S84T

DomainStartEndE-ValueType
Pfam:Mitoc_L55 6 124 9.7e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108786
AA Change: S91T

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104414
Gene: ENSMUSG00000036860
AA Change: S91T

DomainStartEndE-ValueType
Pfam:Mitoc_L55 13 131 4.4e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108787
AA Change: S91T

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104415
Gene: ENSMUSG00000036860
AA Change: S91T

DomainStartEndE-ValueType
Pfam:Mitoc_L55 13 131 4.4e-55 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154354
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 two different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 G T 6: 86,946,153 G236C probably damaging Het
Abi1 C T 2: 22,941,930 R404Q possibly damaging Het
Atp8b3 C T 10: 80,528,764 G532R probably damaging Het
Bysl C T 17: 47,601,871 M331I probably benign Het
Cndp1 A G 18: 84,611,665 S468P probably benign Het
Esd A G 14: 74,749,688 *266W probably null Het
F5 T C 1: 164,194,009 V1351A probably benign Het
Fchsd2 A G 7: 101,271,622 D454G probably benign Het
Fndc1 T A 17: 7,756,363 M1415L probably benign Het
Ghr T A 15: 3,328,120 Y222F probably benign Het
Gm6583 G A 5: 112,355,128 R237* probably null Het
Gtf3c2 C T 5: 31,172,858 S299N probably damaging Het
Ice1 C T 13: 70,602,289 D93N probably damaging Het
Ints7 T A 1: 191,596,164 probably null Het
Kif18a A G 2: 109,292,126 D182G probably damaging Het
Mcm9 A T 10: 53,622,921 H308Q possibly damaging Het
Mesp2 A G 7: 79,812,653 D319G probably benign Het
Mybpc3 T C 2: 91,120,029 V123A probably benign Het
Myom1 T C 17: 71,099,949 probably benign Het
Nfia C T 4: 98,065,386 P325S probably damaging Het
Notch4 T C 17: 34,575,561 probably null Het
Npepps A C 11: 97,258,306 V130G probably damaging Het
Olfr1356 A T 10: 78,847,763 S51T probably damaging Het
Pja2 G T 17: 64,283,531 T669K probably damaging Het
Rnf112 G T 11: 61,452,784 D98E probably damaging Het
Rsl1d1 G A 16: 11,199,694 T136I probably damaging Het
Samsn1 A T 16: 75,909,120 probably benign Het
Slc6a9 T C 4: 117,864,617 L280P probably damaging Het
Svep1 T C 4: 58,097,398 N1382D probably benign Het
Vmn2r100 T G 17: 19,526,000 C474G probably damaging Het
Vmn2r74 C T 7: 85,957,580 R186H probably benign Het
Wdr7 T C 18: 63,796,231 I1046T probably benign Het
Other mutations in Mrpl55
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5649:Mrpl55 UTSW 11 59204571 nonsense probably null
Posted On2013-04-17