Incidental Mutation 'R4871:Mrpl38'
Institutional Source Beutler Lab
Gene Symbol Mrpl38
Ensembl Gene ENSMUSG00000020775
Gene Namemitochondrial ribosomal protein L38
Synonyms1110036N21Rik, 4733401F03Rik, Rpml3, MRP-L3
MMRRC Submission 042481-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.949) question?
Stock #R4871 (G1)
Quality Score225
Status Validated
Chromosomal Location116131817-116138868 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 116134272 bp
Amino Acid Change Tyrosine to Histidine at position 232 (Y232H)
Ref Sequence ENSEMBL: ENSMUSP00000102047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067632] [ENSMUST00000106439] [ENSMUST00000106440]
Predicted Effect probably benign
Transcript: ENSMUST00000067632
SMART Domains Protein: ENSMUSP00000063410
Gene: ENSMUSG00000054517

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: Y232H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102047
Gene: ENSMUSG00000020775
AA Change: Y232H

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

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124722
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138457
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142550
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145655
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154061
Meta Mutation Damage Score 0.6131 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 93% (99/107)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcyap1r1 A G 6: 55,480,093 T270A probably null Het
Adgrv1 A T 13: 81,533,122 probably benign Het
Aldh1b1 A T 4: 45,803,383 D307V probably benign Het
Aldh3a2 A T 11: 61,262,239 C220* probably null Het
Ank2 T C 3: 126,959,795 Y279C probably damaging Het
Anks1 T C 17: 27,991,377 Y444H probably benign Het
Asph G T 4: 9,531,968 T383K probably benign Het
Asphd1 G T 7: 126,948,575 S185R possibly damaging Het
Bcl2a1d T A 9: 88,731,695 I9F probably damaging Het
Bcl2l11 T C 2: 128,129,041 probably benign Het
C2cd3 T G 7: 100,413,374 S656A possibly damaging Het
Ccdc109b C T 3: 129,917,036 W249* probably null Het
Cd5l T C 3: 87,367,622 V156A probably damaging Het
Cdh8 G C 8: 99,030,904 N687K probably damaging Het
Cdk19 A G 10: 40,476,236 D338G probably benign Het
Cenpf A G 1: 189,658,531 C1035R probably damaging Het
Cep290 A G 10: 100,548,914 R1845G probably benign Het
Cep295nl G T 11: 118,333,824 Q65K probably damaging Het
Ciz1 T C 2: 32,372,288 probably benign Het
Clasrp T C 7: 19,590,248 D234G possibly damaging Het
Dctd C T 8: 48,137,414 probably benign Het
Ddr2 A G 1: 170,004,771 V150A probably benign Het
Dnah7b T C 1: 46,081,444 S74P probably benign Het
Dnttip2 C A 3: 122,285,101 A743E probably damaging Het
Dysf A T 6: 84,067,023 Q281L possibly damaging Het
Ece2 A G 16: 20,644,155 E610G probably damaging Het
Edem3 T G 1: 151,804,231 probably null Het
Ext1 G T 15: 53,092,377 N441K probably benign Het
Fam118a A G 15: 85,058,768 R333G probably damaging Het
Fam45a A G 19: 60,830,814 E120G probably damaging Het
Fat4 C T 3: 38,891,605 T1549I probably damaging Het
Fbxo4 A G 15: 3,975,912 V162A probably damaging Het
Fgd2 A G 17: 29,373,249 H385R possibly damaging Het
Garnl3 A T 2: 33,087,088 M1K probably null Het
Gm37267 T G 1: 180,510,518 noncoding transcript Het
Gm7102 C T 19: 61,175,926 G24R unknown Het
Gpbar1 C T 1: 74,279,543 A315V probably damaging Het
Grm2 T C 9: 106,647,645 I624V probably benign Het
Hmcn1 T C 1: 150,593,085 I5042V probably benign Het
Hnf4g T C 3: 3,651,388 Y291H possibly damaging Het
Ighm A G 12: 113,421,621 S240P unknown Het
Igkv4-91 A G 6: 68,768,620 I98T probably damaging Het
Krt72 T C 15: 101,786,034 N142S probably damaging Het
Kynu T A 2: 43,679,818 Y371N possibly damaging Het
Ly9 G T 1: 171,607,330 probably benign Het
Man1a2 C A 3: 100,617,056 V359F probably damaging Het
Mast1 T C 8: 84,920,658 I623M probably damaging Het
Mb A G 15: 77,022,487 probably null Het
Mcm4 A C 16: 15,634,510 L113* probably null Het
Mme T A 3: 63,340,032 V246E probably benign Het
Myh7b T A 2: 155,613,500 M89K probably benign Het
Notch4 A G 17: 34,577,562 S892G possibly damaging Het
Nt5dc3 A G 10: 86,817,077 Y245C probably damaging Het
Ntn1 CCTTCTTCT CCTTCT 11: 68,213,026 probably benign Het
Olfr101 T A 17: 37,300,204 T73S probably benign Het
Olfr1024 T A 2: 85,904,371 I228F probably benign Het
Olfr104-ps A T 17: 37,362,446 I107L probably benign Het
Olfr1066 A T 2: 86,455,809 I154N possibly damaging Het
Olfr305 A T 7: 86,363,484 N284K probably damaging Het
Olfr883 G T 9: 38,026,526 C240F probably damaging Het
Palld A T 8: 61,549,781 probably benign Het
Pcdhga10 T C 18: 37,748,200 V338A probably damaging Het
Pcdhga11 A G 18: 37,757,406 Y489C probably damaging Het
Pgm1 T C 5: 64,103,894 Y244H probably benign Het
Phactr4 A T 4: 132,378,448 S102R probably damaging Het
Plekha5 A G 6: 140,525,910 Y20C probably damaging Het
Rdh19 A G 10: 127,860,144 D255G probably benign Het
Rgs3 T C 4: 62,631,295 V438A probably benign Het
Rnf186 A G 4: 138,967,943 T265A probably benign Het
Ror1 T C 4: 100,425,998 F420S probably benign Het
Rtkn2 A G 10: 68,005,633 K204E probably damaging Het
Rundc1 A G 11: 101,434,048 T527A probably benign Het
Samd4 T C 14: 47,066,463 S301P probably damaging Het
Scaf1 G A 7: 45,005,879 probably benign Het
Srgap2 A G 1: 131,289,472 V1034A probably benign Het
Stab2 T C 10: 86,942,235 D743G probably damaging Het
Stim1 A T 7: 102,354,572 I71F probably damaging Het
Stk17b T C 1: 53,757,534 D358G probably benign Het
Sun2 A G 15: 79,727,564 Y551H probably damaging Het
Tas2r110 A T 6: 132,868,128 T41S probably benign Het
Tead3 T A 17: 28,333,615 E268V probably damaging Het
Tead3 A G 17: 28,334,988 S131P probably benign Het
Tepsin A T 11: 120,091,525 M505K possibly damaging Het
Trbv29 A G 6: 41,271,734 Y66C possibly damaging Het
Ttc6 A G 12: 57,702,356 Q1358R probably damaging Het
Ttll2 C T 17: 7,351,599 V310I probably benign Het
Uaca T C 9: 60,846,001 V76A probably damaging Het
Vwf A T 6: 125,686,462 T2789S probably benign Het
Yipf4 T C 17: 74,494,094 F136L probably benign Het
Zdhhc1 CGGGGG CGGGGGG 8: 105,483,744 probably null Het
Zfp804b A T 5: 6,876,479 D51E probably damaging Het
Zfyve9 C T 4: 108,680,986 G969R probably damaging Het
Other mutations in Mrpl38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01834:Mrpl38 APN 11 116135314 nonsense probably null
PIT4445001:Mrpl38 UTSW 11 116132558 critical splice acceptor site probably null
R0523:Mrpl38 UTSW 11 116132018 missense probably benign 0.03
R1681:Mrpl38 UTSW 11 116138429 splice site probably benign
R2209:Mrpl38 UTSW 11 116138462 missense possibly damaging 0.68
R2329:Mrpl38 UTSW 11 116132019 missense possibly damaging 0.68
R4617:Mrpl38 UTSW 11 116132452 missense probably damaging 0.98
R4700:Mrpl38 UTSW 11 116135152 unclassified probably benign
R5293:Mrpl38 UTSW 11 116132773 missense probably benign 0.07
R7014:Mrpl38 UTSW 11 116134915 missense probably damaging 1.00
R7268:Mrpl38 UTSW 11 116138570 missense possibly damaging 0.82
R7646:Mrpl38 UTSW 11 116132767 missense probably damaging 0.99
R7701:Mrpl38 UTSW 11 116135278 missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2016-03-17