Incidental Mutation 'R0909:Mrpl44'
ID 83412
Institutional Source Beutler Lab
Gene Symbol Mrpl44
Ensembl Gene ENSMUSG00000026248
Gene Name mitochondrial ribosomal protein L44
Synonyms 5730593H20Rik, 1810030E18Rik
MMRRC Submission 039067-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0909 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 79753735-79759162 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79757370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 272 (V272I)
Ref Sequence ENSEMBL: ENSMUSP00000027464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027464] [ENSMUST00000143368]
AlphaFold Q9CY73
Predicted Effect probably benign
Transcript: ENSMUST00000027464
AA Change: V272I

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027464
Gene: ENSMUSG00000026248
AA Change: V272I

DomainStartEndE-ValueType
low complexity region 13 29 N/A INTRINSIC
low complexity region 45 60 N/A INTRINSIC
PDB:4CE4|H 67 333 1e-160 PDB
SCOP:d1jfza_ 72 224 5e-23 SMART
Blast:RIBOc 86 228 2e-90 BLAST
Blast:DSRM 237 288 6e-8 BLAST
SCOP:d1di2a_ 237 304 2e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143368
SMART Domains Protein: ENSMUSP00000123303
Gene: ENSMUSG00000073643

DomainStartEndE-ValueType
WD40 13 52 4.95e-4 SMART
WD40 56 96 5.5e1 SMART
WD40 103 142 1.19e0 SMART
Blast:WD40 145 182 6e-20 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189176
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.4%
  • 20x: 91.5%
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. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik T A 19: 3,765,788 (GRCm39) M21K probably benign Het
Ap3s2 T C 7: 79,530,266 (GRCm39) N183S probably benign Het
Cd109 A G 9: 78,543,755 (GRCm39) I100V probably benign Het
Cep170b A G 12: 112,698,473 (GRCm39) K77R probably null Het
Chmp5 C A 4: 40,960,968 (GRCm39) N202K probably benign Het
Cnbd1 A T 4: 19,122,444 (GRCm39) L15I probably benign Het
Ehmt2 T C 17: 35,125,480 (GRCm39) V542A possibly damaging Het
Exosc9 A T 3: 36,608,853 (GRCm39) I151F probably damaging Het
Eya2 A G 2: 165,596,413 (GRCm39) N308S probably benign Het
Fbxw21 C A 9: 108,985,476 (GRCm39) A101S possibly damaging Het
Frem3 A C 8: 81,390,035 (GRCm39) N1762T probably benign Het
H2-DMb2 C A 17: 34,367,783 (GRCm39) T68N probably benign Het
Hbs1l A G 10: 21,183,637 (GRCm39) E126G probably benign Het
Lrrc2 T A 9: 110,791,741 (GRCm39) probably null Het
Msh4 G A 3: 153,569,141 (GRCm39) L723F probably benign Het
Nemf T A 12: 69,388,384 (GRCm39) D329V probably damaging Het
Noxa1 A T 2: 24,981,806 (GRCm39) L99Q probably damaging Het
Nr6a1 A T 2: 38,775,218 (GRCm39) D44E probably benign Het
Obscn T C 11: 58,965,890 (GRCm39) D3131G probably damaging Het
Or10a5 T C 7: 106,635,401 (GRCm39) I13T probably benign Het
Or10c1 T G 17: 37,521,809 (GRCm39) I312L probably benign Het
Or52p2 A T 7: 102,237,654 (GRCm39) C99S probably damaging Het
Pkhd1l1 T A 15: 44,402,279 (GRCm39) probably null Het
Rbsn G A 6: 92,166,791 (GRCm39) Q618* probably null Het
Rccd1 A C 7: 79,968,799 (GRCm39) probably null Het
Scg2 T A 1: 79,413,499 (GRCm39) Q368L possibly damaging Het
Socs5 T A 17: 87,441,201 (GRCm39) L47Q probably benign Het
Ttc16 T C 2: 32,652,880 (GRCm39) T593A probably benign Het
Ube4a T C 9: 44,851,271 (GRCm39) I748V probably damaging Het
Vipas39 T C 12: 87,288,105 (GRCm39) D435G probably benign Het
Vmn2r69 C T 7: 85,055,873 (GRCm39) G755D probably benign Het
Vsnl1 A G 12: 11,376,372 (GRCm39) F171S probably damaging Het
Wbp2nl G A 15: 82,198,275 (GRCm39) A271T probably benign Het
Other mutations in Mrpl44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Mrpl44 APN 1 79,758,721 (GRCm39) missense probably benign 0.01
IGL02633:Mrpl44 APN 1 79,753,862 (GRCm39) missense probably benign 0.02
R0054:Mrpl44 UTSW 1 79,757,212 (GRCm39) missense probably damaging 1.00
R0054:Mrpl44 UTSW 1 79,757,212 (GRCm39) missense probably damaging 1.00
R1180:Mrpl44 UTSW 1 79,755,677 (GRCm39) missense probably damaging 0.99
R1347:Mrpl44 UTSW 1 79,755,669 (GRCm39) missense probably damaging 1.00
R1347:Mrpl44 UTSW 1 79,755,669 (GRCm39) missense probably damaging 1.00
R1448:Mrpl44 UTSW 1 79,755,677 (GRCm39) missense probably damaging 0.99
R3689:Mrpl44 UTSW 1 79,757,366 (GRCm39) nonsense probably null
R3690:Mrpl44 UTSW 1 79,757,366 (GRCm39) nonsense probably null
R4533:Mrpl44 UTSW 1 79,753,971 (GRCm39) missense possibly damaging 0.91
R4818:Mrpl44 UTSW 1 79,758,694 (GRCm39) missense probably benign 0.00
R4893:Mrpl44 UTSW 1 79,755,582 (GRCm39) missense probably damaging 0.97
R6178:Mrpl44 UTSW 1 79,755,895 (GRCm39) missense possibly damaging 0.76
R8713:Mrpl44 UTSW 1 79,755,708 (GRCm39) missense probably damaging 1.00
R8795:Mrpl44 UTSW 1 79,753,974 (GRCm39) missense probably damaging 0.99
X0018:Mrpl44 UTSW 1 79,755,792 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- TGCGAAAAGTTTCAGATTCCGAGCAT -3'
(R):5'- AGATAATGACCCTATCCACCCTGCC -3'

Sequencing Primer
(F):5'- CAGATTCCGAGCATTTTGGATTTTC -3'
(R):5'- ctgcttgcctccacctc -3'
Posted On 2013-11-08