Incidental Mutation 'IGL02172:Mrpl1'
ID 282950
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: 0.148) question?
Stock # IGL02172
Quality Score
Status
Chromosome 5
Chromosomal Location 96357357-96414586 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96379574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 203 (V203A)
Ref Sequence ENSEMBL: ENSMUSP00000112451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036437] [ENSMUST00000117766] [ENSMUST00000121477]
AlphaFold Q99N96
Predicted Effect possibly damaging
Transcript: ENSMUST00000036437
AA Change: V203A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000037046
Gene: ENSMUSG00000029486
AA Change: V203A

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000117766
AA Change: V203A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112977
Gene: ENSMUSG00000029486
AA Change: V203A

DomainStartEndE-ValueType
Pfam:Ribosomal_L1 55 307 3.1e-18 PFAM
low complexity region 318 336 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121477
AA Change: V203A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112451
Gene: ENSMUSG00000029486
AA Change: V203A

DomainStartEndE-ValueType
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,341,817 (GRCm39) V1048A probably benign Het
Adgre1 C T 17: 57,785,879 (GRCm39) T875I probably damaging Het
Arhgef26 T C 3: 62,367,097 (GRCm39) V810A probably benign Het
Atf1 T A 15: 100,152,322 (GRCm39) V105E probably damaging Het
Bbs9 C T 9: 22,490,772 (GRCm39) T300I possibly damaging Het
Bltp1 T C 3: 37,059,022 (GRCm39) V3236A probably damaging Het
Brd7 G T 8: 89,078,452 (GRCm39) H226Q probably benign Het
Cadps T C 14: 12,705,681 (GRCm38) K238R probably damaging Het
Chordc1 A G 9: 18,213,388 (GRCm39) T80A possibly damaging Het
Clca4a A T 3: 144,676,155 (GRCm39) C126* probably null Het
Col24a1 A T 3: 145,020,723 (GRCm39) T365S probably benign Het
Crb1 C T 1: 139,164,965 (GRCm39) G1053D probably damaging Het
Creb3l4 A T 3: 90,150,082 (GRCm39) S20T probably benign Het
Cyp2c67 C T 19: 39,637,446 (GRCm39) C10Y possibly damaging Het
Dhdh A T 7: 45,125,041 (GRCm39) C294S probably damaging Het
Fam135a A G 1: 24,063,861 (GRCm39) probably null Het
Fsd1 G T 17: 56,297,244 (GRCm39) probably benign Het
Gatad2b A G 3: 90,262,978 (GRCm39) probably benign Het
Glb1l2 T C 9: 26,680,382 (GRCm39) D232G probably damaging Het
Gm10553 T C 1: 85,078,015 (GRCm39) L44P probably damaging Het
Hecw1 T C 13: 14,438,734 (GRCm39) Y883C probably damaging Het
Helq A G 5: 100,938,013 (GRCm39) F478L probably damaging Het
Ift172 T C 5: 31,438,681 (GRCm39) probably benign Het
Krtcap3 A C 5: 31,409,397 (GRCm39) T55P probably damaging Het
Megf6 A G 4: 154,355,149 (GRCm39) D1488G probably damaging Het
Myh2 A T 11: 67,079,878 (GRCm39) D1084V possibly damaging Het
Necap2 T A 4: 140,805,621 (GRCm39) probably benign Het
Nemp1 A G 10: 127,528,868 (GRCm39) S191G probably benign Het
Nrip1 T C 16: 76,088,380 (GRCm39) D1059G probably damaging Het
Ntrk3 A T 7: 78,110,020 (GRCm39) probably benign Het
Or51e1 G A 7: 102,359,051 (GRCm39) R195H probably benign Het
Or51f1d A G 7: 102,700,582 (GRCm39) I26V probably benign Het
Prkdc T G 16: 15,627,623 (GRCm39) V3427G probably benign Het
Ptprn2 A T 12: 116,837,317 (GRCm39) probably benign Het
Ptprt A T 2: 161,397,422 (GRCm39) L1095H probably damaging Het
Ren1 T A 1: 133,286,771 (GRCm39) L300Q possibly damaging Het
Rgl3 A G 9: 21,888,134 (GRCm39) I460T probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Runx1t1 A C 4: 13,859,924 (GRCm39) Q265P probably benign Het
Sh3d21 A G 4: 126,046,153 (GRCm39) S282P probably benign Het
Slc39a13 T C 2: 90,893,505 (GRCm39) E318G possibly damaging Het
Srd5a3 T C 5: 76,295,556 (GRCm39) I82T probably benign Het
Stard7 C A 2: 127,132,792 (GRCm39) T220N probably damaging Het
Tbx4 G A 11: 85,805,389 (GRCm39) G493R possibly damaging Het
Trerf1 A T 17: 47,628,743 (GRCm39) noncoding transcript Het
Trim59 T A 3: 68,944,810 (GRCm39) I177L probably benign Het
Trpm7 T C 2: 126,637,248 (GRCm39) M1789V possibly damaging Het
Tsc22d1 T C 14: 76,655,132 (GRCm39) V455A probably benign Het
Vmn2r118 C A 17: 55,931,598 (GRCm39) M25I probably benign Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wdr90 G A 17: 26,069,408 (GRCm39) T1233I probably benign Het
Zcchc2 G A 1: 105,928,664 (GRCm39) D308N probably benign Het
Zfp57 G T 17: 37,320,481 (GRCm39) V112L possibly damaging Het
Zfp874b A T 13: 67,622,135 (GRCm39) Y388N probably damaging Het
Other mutations in Mrpl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Mrpl1 APN 5 96,374,144 (GRCm39) missense probably damaging 1.00
IGL01068:Mrpl1 APN 5 96,371,895 (GRCm39) splice site probably benign
R0908:Mrpl1 UTSW 5 96,409,942 (GRCm39) missense probably benign 0.01
R1726:Mrpl1 UTSW 5 96,371,686 (GRCm39) missense probably benign 0.00
R1827:Mrpl1 UTSW 5 96,374,202 (GRCm39) missense possibly damaging 0.55
R4387:Mrpl1 UTSW 5 96,386,778 (GRCm39) missense possibly damaging 0.48
R4636:Mrpl1 UTSW 5 96,358,034 (GRCm39) missense probably benign 0.04
R5974:Mrpl1 UTSW 5 96,379,653 (GRCm39) critical splice donor site probably null
R7062:Mrpl1 UTSW 5 96,361,650 (GRCm39) missense probably benign 0.16
R8241:Mrpl1 UTSW 5 96,386,733 (GRCm39) missense probably damaging 0.97
R8377:Mrpl1 UTSW 5 96,374,226 (GRCm39) missense probably benign
R8419:Mrpl1 UTSW 5 96,374,226 (GRCm39) missense probably benign
R8421:Mrpl1 UTSW 5 96,374,226 (GRCm39) missense probably benign
R8461:Mrpl1 UTSW 5 96,361,646 (GRCm39) missense probably damaging 1.00
R9090:Mrpl1 UTSW 5 96,371,746 (GRCm39) missense probably damaging 1.00
R9231:Mrpl1 UTSW 5 96,361,719 (GRCm39) missense probably benign 0.26
R9271:Mrpl1 UTSW 5 96,371,746 (GRCm39) missense probably damaging 1.00
R9287:Mrpl1 UTSW 5 96,386,806 (GRCm39) missense probably benign 0.10
Z1088:Mrpl1 UTSW 5 96,409,928 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16