Incidental Mutation 'R7646:Mrpl38'
ID 590555
Institutional Source Beutler Lab
Gene Symbol Mrpl38
Ensembl Gene ENSMUSG00000020775
Gene Name mitochondrial ribosomal protein L38
Synonyms Rpml3, 1110036N21Rik, 4733401F03Rik, MRP-L3
MMRRC Submission 045724-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.936) question?
Stock # R7646 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 116022643-116029694 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 116023593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 282 (S282L)
Ref Sequence ENSEMBL: ENSMUSP00000102047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067632] [ENSMUST00000106439] [ENSMUST00000106440]
AlphaFold Q8K2M0
Predicted Effect probably benign
Transcript: ENSMUST00000067632
SMART Domains Protein: ENSMUSP00000063410
Gene: ENSMUSG00000054517

DomainStartEndE-ValueType
RING 13 51 2.47e-9 SMART
low complexity region 69 85 N/A INTRINSIC
Blast:BBOX 94 132 3e-10 BLAST
coiled coil region 140 175 N/A INTRINSIC
low complexity region 282 298 N/A INTRINSIC
PRY 333 383 3.67e-3 SMART
Pfam:SPRY 386 505 1.5e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106439
AA Change: S282L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102047
Gene: ENSMUSG00000020775
AA Change: S282L

DomainStartEndE-ValueType
low complexity region 55 67 N/A INTRINSIC
Pfam:PBP 183 313 3e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106440
SMART Domains Protein: ENSMUSP00000102048
Gene: ENSMUSG00000054517

DomainStartEndE-ValueType
RING 13 51 2.47e-9 SMART
low complexity region 69 85 N/A INTRINSIC
Blast:BBOX 94 132 2e-10 BLAST
coiled coil region 140 175 N/A INTRINSIC
low complexity region 282 298 N/A INTRINSIC
PRY 333 383 3.67e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (64/64)
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. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,113,937 (GRCm39) H936R probably benign Het
Afg3l1 C A 8: 124,219,766 (GRCm39) D431E possibly damaging Het
Agrn T C 4: 156,279,811 (GRCm39) N120S probably damaging Het
Apob A G 12: 8,059,189 (GRCm39) D2557G probably damaging Het
Atl2 A G 17: 80,162,036 (GRCm39) Y359H probably damaging Het
Banp T C 8: 122,750,775 (GRCm39) S489P possibly damaging Het
Cage1 A G 13: 38,206,823 (GRCm39) C341R probably damaging Het
Cdh23 T C 10: 60,140,931 (GRCm39) N3139S possibly damaging Het
Chd2 G T 7: 73,085,521 (GRCm39) S1704R possibly damaging Het
Col4a2 T A 8: 11,495,086 (GRCm39) F1515I probably benign Het
Crocc T A 4: 140,748,966 (GRCm39) Q1613L probably null Het
Cttnbp2 A T 6: 18,375,939 (GRCm39) S1533R probably damaging Het
Dlgap5 C T 14: 47,636,976 (GRCm39) probably null Het
Dnah8 G A 17: 30,868,651 (GRCm39) D362N probably benign Het
Elf5 G T 2: 103,269,588 (GRCm39) K56N probably benign Het
Emsy G A 7: 98,268,560 (GRCm39) P508S probably damaging Het
Fam135a T C 1: 24,067,704 (GRCm39) H1055R probably benign Het
Fh1 C T 1: 175,442,479 (GRCm39) V124I probably benign Het
Gbf1 T A 19: 46,272,111 (GRCm39) D1610E probably damaging Het
Glp1r A G 17: 31,155,257 (GRCm39) K415E probably benign Het
Glyr1 T C 16: 4,836,361 (GRCm39) D496G probably damaging Het
Herc2 A G 7: 55,784,361 (GRCm39) I1342V probably benign Het
Hoxa7 A G 6: 52,192,699 (GRCm39) *230Q probably null Het
Ice1 A G 13: 70,737,916 (GRCm39) V2177A possibly damaging Het
Ildr1 T A 16: 36,542,281 (GRCm39) M271K possibly damaging Het
Klk1b22 T G 7: 43,765,542 (GRCm39) probably null Het
Lig3 T A 11: 82,674,304 (GRCm39) N43K probably benign Het
Mcmdc2 A G 1: 9,982,360 (GRCm39) T83A possibly damaging Het
Megf10 GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA GGCAGCAACAGCACCAGCAGCA 18: 57,427,071 (GRCm39) probably benign Het
Mki67 A T 7: 135,298,498 (GRCm39) S2179T possibly damaging Het
Ndst2 A G 14: 20,774,527 (GRCm39) probably null Het
Nlrp4a C G 7: 26,148,987 (GRCm39) A198G probably damaging Het
Nup98 A C 7: 101,803,242 (GRCm39) S653A probably benign Het
Or12e8 A G 2: 87,188,102 (GRCm39) I105V probably benign Het
Or13a27 A G 7: 139,925,864 (GRCm39) F13L probably damaging Het
Or14j10 G T 17: 37,935,295 (GRCm39) T77K probably damaging Het
Or51ai2 G A 7: 103,587,504 (GRCm39) A306T probably damaging Het
Or8k37 C A 2: 86,469,513 (GRCm39) D180Y probably damaging Het
Pclo A T 5: 14,570,909 (GRCm39) D98V probably damaging Het
Peg3 A T 7: 6,712,221 (GRCm39) D1000E probably benign Het
Polr3h A G 15: 81,801,571 (GRCm39) Y131H probably damaging Het
Rapgef6 A G 11: 54,516,780 (GRCm39) I346V probably benign Het
Rufy1 T A 11: 50,301,436 (GRCm39) K332M probably damaging Het
Scn1a T C 2: 66,118,102 (GRCm39) M404V possibly damaging Het
Septin8 T A 11: 53,428,744 (GRCm39) probably null Het
Sesn3 A G 9: 14,219,911 (GRCm39) D100G probably damaging Het
Setx A G 2: 29,067,561 (GRCm39) I2388V possibly damaging Het
Skint5 T A 4: 113,620,739 (GRCm39) probably null Het
Slc25a23 C T 17: 57,366,759 (GRCm39) probably benign Het
Slc4a7 G A 14: 14,773,348 (GRCm38) E773K probably benign Het
Slco3a1 G A 7: 74,154,344 (GRCm39) A76V probably damaging Het
Stradb A T 1: 59,033,567 (GRCm39) D410V probably benign Het
Syne1 T C 10: 5,122,949 (GRCm39) D329G probably damaging Het
Syt4 A C 18: 31,574,658 (GRCm39) S320A possibly damaging Het
Tnfsf4 A G 1: 161,244,733 (GRCm39) T141A possibly damaging Het
Trim34b G A 7: 103,984,559 (GRCm39) A279T probably damaging Het
Trpm6 A T 19: 18,845,325 (GRCm39) D1675V probably benign Het
Vmn2r24 T A 6: 123,793,169 (GRCm39) M832K probably benign Het
Wdr90 A G 17: 26,079,104 (GRCm39) V246A probably benign Het
Xkr6 G T 14: 63,844,423 (GRCm39) D149Y probably damaging Het
Zfp108 A G 7: 23,960,840 (GRCm39) Y477C probably damaging Het
Zfp37 T G 4: 62,109,532 (GRCm39) I552L probably damaging Het
Zfp426 A T 9: 20,381,320 (GRCm39) S556T probably damaging Het
Zfp954 G A 7: 7,118,720 (GRCm39) L275F possibly damaging Het
Other mutations in Mrpl38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01834:Mrpl38 APN 11 116,026,140 (GRCm39) nonsense probably null
PIT4445001:Mrpl38 UTSW 11 116,023,384 (GRCm39) critical splice acceptor site probably null
R0523:Mrpl38 UTSW 11 116,022,844 (GRCm39) missense probably benign 0.03
R1681:Mrpl38 UTSW 11 116,029,255 (GRCm39) splice site probably benign
R2209:Mrpl38 UTSW 11 116,029,288 (GRCm39) missense possibly damaging 0.68
R2329:Mrpl38 UTSW 11 116,022,845 (GRCm39) missense possibly damaging 0.68
R4617:Mrpl38 UTSW 11 116,023,278 (GRCm39) missense probably damaging 0.98
R4700:Mrpl38 UTSW 11 116,025,978 (GRCm39) unclassified probably benign
R4871:Mrpl38 UTSW 11 116,025,098 (GRCm39) missense probably damaging 1.00
R5293:Mrpl38 UTSW 11 116,023,599 (GRCm39) missense probably benign 0.07
R7014:Mrpl38 UTSW 11 116,025,741 (GRCm39) missense probably damaging 1.00
R7268:Mrpl38 UTSW 11 116,029,396 (GRCm39) missense possibly damaging 0.82
R7701:Mrpl38 UTSW 11 116,026,104 (GRCm39) missense probably benign 0.00
R9420:Mrpl38 UTSW 11 116,023,276 (GRCm39) missense probably damaging 1.00
R9649:Mrpl38 UTSW 11 116,025,900 (GRCm39) missense probably damaging 1.00
R9717:Mrpl38 UTSW 11 116,023,296 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAAGTGCGGAAGGTCCTCTG -3'
(R):5'- TGGCATGGCAACTAATGGG -3'

Sequencing Primer
(F):5'- TCTGGGCCAGCTGGTAG -3'
(R):5'- GCATGGCAACTAATGGGTATTTTCC -3'
Posted On 2019-10-24