Incidental Mutation 'IGL02571:Mrpl12'
ID299013
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl12
Ensembl Gene ENSMUSG00000039640
Gene Namemitochondrial ribosomal protein L12
Synonyms1500031N16Rik, 0610034O11Rik, MRP-L12, Rpml12
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02571
Quality Score
Status
Chromosome11
Chromosomal Location120484613-120489065 bp(+) (GRCm38)
Type of Mutationsplice site (3 bp from exon)
DNA Base Change (assembly) A to G at 120485432 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000044417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026900] [ENSMUST00000043627] [ENSMUST00000106203] [ENSMUST00000106205]
Predicted Effect probably benign
Transcript: ENSMUST00000026900
SMART Domains Protein: ENSMUSP00000026900
Gene: ENSMUSG00000116045

DomainStartEndE-ValueType
VHS 8 139 6.97e-63 SMART
FYVE 155 221 1.81e-31 SMART
UIM 258 277 1.81e-1 SMART
Pfam:Hrs_helical 406 500 1.2e-41 PFAM
low complexity region 637 658 N/A INTRINSIC
low complexity region 746 767 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000043627
SMART Domains Protein: ENSMUSP00000044417
Gene: ENSMUSG00000039640

DomainStartEndE-ValueType
low complexity region 14 26 N/A INTRINSIC
Pfam:Ribosomal_L12_N 64 120 4.5e-13 PFAM
Pfam:Ribosomal_L12 133 201 5.4e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106203
SMART Domains Protein: ENSMUSP00000101809
Gene: ENSMUSG00000025793

DomainStartEndE-ValueType
VHS 8 139 6.97e-63 SMART
FYVE 155 221 1.81e-31 SMART
UIM 258 277 1.81e-1 SMART
Pfam:Hrs_helical 405 500 2.2e-48 PFAM
low complexity region 724 739 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106205
SMART Domains Protein: ENSMUSP00000101811
Gene: ENSMUSG00000025793

DomainStartEndE-ValueType
VHS 8 139 6.97e-63 SMART
FYVE 155 221 1.81e-31 SMART
UIM 258 277 1.81e-1 SMART
Pfam:Hrs_helical 404 499 2.2e-48 PFAM
low complexity region 723 738 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142520
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180595
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 which forms homodimers. In prokaryotic ribosomes, two L7/L12 dimers and one L10 protein form the L8 protein complex. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a2 T C 14: 60,012,458 probably benign Het
Cacna2d2 G A 9: 107,525,646 E885K possibly damaging Het
Cyp4f17 A G 17: 32,524,904 E352G probably benign Het
Dip2b T C 15: 100,157,885 W373R possibly damaging Het
Fam71b G T 11: 46,405,245 R148L probably damaging Het
Gem C A 4: 11,713,628 Q255K probably benign Het
Herc1 T C 9: 66,434,605 probably benign Het
Herc2 A T 7: 56,153,386 N2161I probably damaging Het
Ift172 A G 5: 31,257,891 F1325L probably damaging Het
Irgc1 T C 7: 24,432,591 K267R probably damaging Het
Kif1a A G 1: 93,020,456 probably null Het
Lifr G T 15: 7,190,111 probably benign Het
Mrps18c A G 5: 100,801,975 D74G probably damaging Het
Mtus1 C T 8: 41,083,482 G399D possibly damaging Het
Nf1 T C 11: 79,428,627 I536T probably damaging Het
Olfr1441 C A 19: 12,422,886 S192R possibly damaging Het
Pcdh9 A G 14: 93,560,587 probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rubcnl A T 14: 75,032,136 Q78L possibly damaging Het
Sis C A 3: 72,956,304 probably benign Het
Tbc1d2 T C 4: 46,628,370 M320V probably benign Het
Vmn1r178 C T 7: 23,894,235 T236I probably damaging Het
Xpc T C 6: 91,504,071 D273G probably benign Het
Zfhx4 A C 3: 5,329,523 N1033T probably damaging Het
Zfp646 A G 7: 127,879,412 T254A probably damaging Het
Other mutations in Mrpl12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00913:Mrpl12 APN 11 120485376 missense possibly damaging 0.61
R0076:Mrpl12 UTSW 11 120485442 unclassified probably benign
R0471:Mrpl12 UTSW 11 120488403 missense probably damaging 1.00
R1370:Mrpl12 UTSW 11 120485301 missense probably benign
R7227:Mrpl12 UTSW 11 120488352 missense probably damaging 1.00
Posted On2015-04-16