Incidental Mutation 'R5974:Mrpl1'
ID 471609
Institutional Source Beutler Lab
Gene Symbol Mrpl1
Ensembl Gene ENSMUSG00000029486
Gene Name mitochondrial ribosomal protein L1
Synonyms 5830418D04Rik, 2410002L03Rik
MMRRC Submission 044157-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R5974 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 96357357-96414586 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 96379653 bp (GRCm39)
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 null
Transcript: ENSMUST00000036437
SMART Domains Protein: ENSMUSP00000037046
Gene: ENSMUSG00000029486

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 probably null
Transcript: ENSMUST00000117766
SMART Domains Protein: ENSMUSP00000112977
Gene: ENSMUSG00000029486

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

DomainStartEndE-ValueType
Pfam:MRL1 1 165 9.5e-57 PFAM
Pfam:Ribosomal_L1 56 269 3.4e-10 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Anapc4 T C 5: 53,002,742 (GRCm39) L261P probably damaging Het
Aqp6 A G 15: 99,499,317 (GRCm39) Y10C probably benign Het
Ccnb1ip1 A T 14: 51,029,662 (GRCm39) N133K probably benign Het
Clip4 A T 17: 72,138,242 (GRCm39) H433L probably damaging Het
Cntnap5c T A 17: 58,183,480 (GRCm39) M62K probably benign Het
Col12a1 A G 9: 79,589,409 (GRCm39) S1049P probably damaging Het
Col15a1 C T 4: 47,258,683 (GRCm39) T358I probably benign Het
Coro7 A T 16: 4,449,753 (GRCm39) D645E possibly damaging Het
Ctnnal1 C A 4: 56,817,067 (GRCm39) W585L probably damaging Het
Ctnnd1 C A 2: 84,451,259 (GRCm39) E114* probably null Het
Daam2 T A 17: 49,771,501 (GRCm39) S882C probably damaging Het
Des T A 1: 75,339,628 (GRCm39) S329T probably benign Het
Dido1 T C 2: 180,313,290 (GRCm39) D994G probably benign Het
Dock3 A G 9: 106,871,261 (GRCm39) V547A probably damaging Het
Ebf4 G A 2: 130,207,484 (GRCm39) A643T probably damaging Het
Ect2 C A 3: 27,199,112 (GRCm39) E194* probably null Het
Epb41l2 A G 10: 25,317,713 (GRCm39) I77V possibly damaging Het
Fat3 A T 9: 15,917,824 (GRCm39) probably null Het
Fbn2 T G 18: 58,181,992 (GRCm39) D1803A probably damaging Het
Fbxo10 T C 4: 45,040,631 (GRCm39) E858G probably benign Het
Fbxo24 C T 5: 137,617,912 (GRCm39) R284Q probably benign Het
Fsip2 T A 2: 82,793,657 (GRCm39) I425N possibly damaging Het
Fut9 A C 4: 25,620,090 (GRCm39) Y241* probably null Het
Galr2 A G 11: 116,173,852 (GRCm39) S161G possibly damaging Het
Gcc2 T A 10: 58,094,065 (GRCm39) L14I probably damaging Het
H2-T15 A T 17: 36,367,677 (GRCm39) D220E probably benign Het
Hdac11 G A 6: 91,150,196 (GRCm39) V332I probably benign Het
Hdac7 T C 15: 97,699,953 (GRCm39) probably null Het
Kif16b C T 2: 142,699,301 (GRCm39) G93D probably damaging Het
Krtap11-1 C A 16: 89,367,656 (GRCm39) C121F possibly damaging Het
Lacc1 T C 14: 77,272,517 (GRCm39) Q93R probably damaging Het
Lama1 T C 17: 68,080,722 (GRCm39) F1250S probably benign Het
Lmbrd2 A G 15: 9,172,202 (GRCm39) E332G probably benign Het
Lrp2 C A 2: 69,289,892 (GRCm39) C3649F probably damaging Het
Map1a T C 2: 121,134,857 (GRCm39) V1653A probably benign Het
Myo1b A G 1: 51,817,532 (GRCm39) S577P probably damaging Het
Nedd4 T A 9: 72,650,920 (GRCm39) probably null Het
Negr1 T A 3: 156,774,923 (GRCm39) V213E probably damaging Het
Nlk T G 11: 78,481,792 (GRCm39) Q223P probably benign Het
Ntn5 A G 7: 45,340,848 (GRCm39) H162R probably damaging Het
Nup42 T C 5: 24,372,400 (GRCm39) S63P probably damaging Het
Obscn C A 11: 58,967,373 (GRCm39) D477Y probably damaging Het
Or12d12 A T 17: 37,611,229 (GRCm39) I28N possibly damaging Het
Or5an1 T C 19: 12,261,200 (GRCm39) S263P probably damaging Het
Or8u10 T C 2: 85,915,225 (GRCm39) S299G probably benign Het
Pabpn1 A G 14: 55,134,617 (GRCm39) T280A probably damaging Het
Per3 A T 4: 151,127,194 (GRCm39) V109E possibly damaging Het
Pira2 A C 7: 3,844,576 (GRCm39) V485G probably benign Het
Pknox2 A G 9: 36,847,618 (GRCm39) L133P probably damaging Het
Pros1 A C 16: 62,721,030 (GRCm39) N195T probably damaging Het
Rffl T C 11: 82,696,977 (GRCm39) K289E probably damaging Het
Ripk1 T A 13: 34,214,084 (GRCm39) Y475* probably null Het
Ryr2 A G 13: 11,729,397 (GRCm39) probably null Het
Sgk1 T A 10: 21,872,148 (GRCm39) N241K probably damaging Het
Skint1 T A 4: 111,876,516 (GRCm39) S146T probably benign Het
Sox30 G T 11: 45,871,900 (GRCm39) D252Y probably damaging Het
Syngap1 A G 17: 27,182,012 (GRCm39) Y1002C probably damaging Het
Tiam2 A G 17: 3,465,084 (GRCm39) D271G possibly damaging Het
Ticam1 T C 17: 56,578,178 (GRCm39) T306A probably benign Het
Tmem252 A G 19: 24,651,632 (GRCm39) E67G probably benign Het
Tnxb T G 17: 34,904,681 (GRCm39) F1149V probably damaging Het
Ubr4 A G 4: 139,148,389 (GRCm39) probably null Het
Unc50 A G 1: 37,476,290 (GRCm39) D150G probably benign Het
Ywhag A C 5: 135,940,483 (GRCm39) L37R probably damaging Het
Zfp296 T C 7: 19,311,862 (GRCm39) L123P probably benign Het
Zfp418 G T 7: 7,185,199 (GRCm39) Q387H possibly damaging Het
Zfp882 T C 8: 72,666,999 (GRCm39) F53L 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
IGL02172:Mrpl1 APN 5 96,379,574 (GRCm39) missense probably damaging 0.96
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
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
Predicted Primers PCR Primer
(F):5'- TTCCCTAGCATAATCTCACAGCAG -3'
(R):5'- AGCAGGTATTGTGTTCCAGTAATG -3'

Sequencing Primer
(F):5'- GCTTCTGATGTTTTTCGCAACTAG -3'
(R):5'- TCCAGTAATGTATAACTGATTTGCAC -3'
Posted On 2017-03-31