Incidental Mutation 'IGL01068:Mrpl1'
ID 51038
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl1
Ensembl Gene ENSMUSG00000029486
Gene Name mitochondrial ribosomal protein L1
Synonyms 5830418D04Rik, 2410002L03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # IGL01068
Quality Score
Chromosome 5
Chromosomal Location 96209493-96266727 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 96224036 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036437] [ENSMUST00000117766] [ENSMUST00000121477]
AlphaFold Q99N96
Predicted Effect probably benign
Transcript: ENSMUST00000036437
SMART Domains Protein: ENSMUSP00000037046
Gene: ENSMUSG00000029486

Pfam:MRL1 2 165 1.3e-56 PFAM
Pfam:Ribosomal_L1 55 307 3e-17 PFAM
low complexity region 318 336 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117766
SMART Domains Protein: ENSMUSP00000112977
Gene: ENSMUSG00000029486

Pfam:Ribosomal_L1 55 307 3.1e-18 PFAM
low complexity region 318 336 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121477
SMART Domains Protein: ENSMUSP00000112451
Gene: ENSMUSG00000029486

Pfam:MRL1 1 165 9.5e-57 PFAM
Pfam:Ribosomal_L1 56 269 3.4e-10 PFAM
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 that belongs to the L1 ribosomal protein family. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T C 7: 43,504,175 probably benign Het
Adgra1 A G 7: 139,845,625 E18G probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Atg16l1 C T 1: 87,774,824 S269L probably damaging Het
Atp8a1 A G 5: 67,667,337 V853A probably benign Het
Bicral T C 17: 46,825,391 I298V probably damaging Het
Cad A G 5: 31,061,770 probably benign Het
Chd9 A T 8: 91,042,116 Y2448F probably benign Het
Clstn3 A G 6: 124,462,139 L16S probably damaging Het
Cmtr2 G A 8: 110,222,869 V604M possibly damaging Het
Ctcf A T 8: 105,681,485 probably benign Het
Eif2ak2 A G 17: 78,865,371 I295T probably damaging Het
Foxm1 G A 6: 128,370,967 R284H possibly damaging Het
Gabra2 T C 5: 70,962,072 I362M probably benign Het
Hivep1 C A 13: 42,159,984 P1900Q probably benign Het
Klhl25 G T 7: 75,866,149 E268* probably null Het
Klk1b16 T C 7: 44,140,678 L124P probably damaging Het
Ltf A T 9: 111,035,812 probably null Het
Mpped2 T A 2: 106,864,746 H248Q probably damaging Het
Mthfd1l T A 10: 4,028,428 S429R probably damaging Het
Myl2 G A 5: 122,106,704 V146I probably benign Het
Myo10 T A 15: 25,739,309 I527N possibly damaging Het
Ncoa3 T C 2: 166,052,795 S333P probably damaging Het
Olfr1297 T G 2: 111,621,340 T245P probably damaging Het
Olfr350 T G 2: 36,850,270 S75A probably damaging Het
Oxct1 T C 15: 4,053,764 F155S probably damaging Het
P4ha1 T C 10: 59,339,335 V39A probably damaging Het
Padi6 G T 4: 140,730,953 T514N possibly damaging Het
Pgm1 G A 5: 64,107,796 V387I probably damaging Het
Ppt1 G A 4: 122,844,007 C46Y probably damaging Het
Rnf225 T C 7: 12,928,900 probably benign Het
Rpl26 T C 11: 68,902,398 Y42H probably benign Het
Rundc1 A G 11: 101,434,142 N558S probably damaging Het
Sema3e T G 5: 14,233,718 probably null Het
Slc8a1 T C 17: 81,388,942 I888V probably benign Het
Thsd7b T C 1: 129,596,146 C306R probably damaging Het
Tmem209 A C 6: 30,502,086 L197R probably benign Het
Tmem38b T G 4: 53,849,024 V119G probably damaging Het
Trpc1 T C 9: 95,726,494 D82G probably damaging Het
Zfp292 A G 4: 34,806,763 F2094L probably damaging Het
Zfp638 C T 6: 83,934,994 R453W probably damaging Het
Other mutations in Mrpl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Mrpl1 APN 5 96226285 missense probably damaging 1.00
IGL02172:Mrpl1 APN 5 96231715 missense probably damaging 0.96
R0908:Mrpl1 UTSW 5 96262083 missense probably benign 0.01
R1726:Mrpl1 UTSW 5 96223827 missense probably benign 0.00
R1827:Mrpl1 UTSW 5 96226343 missense possibly damaging 0.55
R4387:Mrpl1 UTSW 5 96238919 missense possibly damaging 0.48
R4636:Mrpl1 UTSW 5 96210175 missense probably benign 0.04
R5974:Mrpl1 UTSW 5 96231794 critical splice donor site probably null
R7062:Mrpl1 UTSW 5 96213791 missense probably benign 0.16
R8241:Mrpl1 UTSW 5 96238874 missense probably damaging 0.97
R8377:Mrpl1 UTSW 5 96226367 missense probably benign
R8419:Mrpl1 UTSW 5 96226367 missense probably benign
R8421:Mrpl1 UTSW 5 96226367 missense probably benign
R8461:Mrpl1 UTSW 5 96213787 missense probably damaging 1.00
R9090:Mrpl1 UTSW 5 96223887 missense probably damaging 1.00
R9231:Mrpl1 UTSW 5 96213860 missense probably benign 0.26
R9271:Mrpl1 UTSW 5 96223887 missense probably damaging 1.00
R9287:Mrpl1 UTSW 5 96238947 missense probably benign 0.10
Z1088:Mrpl1 UTSW 5 96262069 missense probably damaging 1.00
Posted On 2013-06-21