Incidental Mutation 'R4533:Mrpl44'
ID 333178
Institutional Source Beutler Lab
Gene Symbol Mrpl44
Ensembl Gene ENSMUSG00000026248
Gene Name mitochondrial ribosomal protein L44
Synonyms 5730593H20Rik, 1810030E18Rik
MMRRC Submission 041773-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4533 (G1)
Quality Score 111
Status Validated
Chromosome 1
Chromosomal Location 79753735-79759162 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79753971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 41 (F41S)
Ref Sequence ENSEMBL: ENSMUSP00000027464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027464] [ENSMUST00000143368]
AlphaFold Q9CY73
Predicted Effect possibly damaging
Transcript: ENSMUST00000027464
AA Change: F41S

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027464
Gene: ENSMUSG00000026248
AA Change: F41S

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
Meta Mutation Damage Score 0.2126 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (54/54)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A G 9: 90,062,761 (GRCm39) Y405C probably damaging Het
Ago3 A T 4: 126,239,356 (GRCm39) S832T probably damaging Het
Akap9 T A 5: 4,093,948 (GRCm39) F2157I probably damaging Het
Anapc5 T C 5: 122,929,798 (GRCm39) E561G possibly damaging Het
Art5 T C 7: 101,747,545 (GRCm39) H78R probably benign Het
Blvra T A 2: 126,932,304 (GRCm39) probably null Het
Ccdc171 A G 4: 83,575,579 (GRCm39) T488A possibly damaging Het
Crtc3 A T 7: 80,239,543 (GRCm39) M603K probably damaging Het
Csmd1 T C 8: 15,981,037 (GRCm39) probably null Het
Dbh C A 2: 27,067,343 (GRCm39) H409Q possibly damaging Het
Gm12185 T C 11: 48,798,747 (GRCm39) Y582C probably damaging Het
Gm12185 T C 11: 48,798,921 (GRCm39) N524S possibly damaging Het
Gm7356 A C 17: 14,221,672 (GRCm39) I119R probably damaging Het
Heatr1 T A 13: 12,449,392 (GRCm39) D1963E probably benign Het
Ighv1-37 A T 12: 114,860,147 (GRCm39) V21D probably damaging Het
Itga3 T G 11: 94,948,119 (GRCm39) Q602P probably benign Het
Kcmf1 G A 6: 72,826,574 (GRCm39) R152C probably damaging Het
Lin54 T C 5: 100,633,262 (GRCm39) I141V possibly damaging Het
Mast1 T A 8: 85,647,990 (GRCm39) H497L probably damaging Het
Myo18b T C 5: 112,840,891 (GRCm39) R2301G probably damaging Het
Nek1 A T 8: 61,460,247 (GRCm39) M58L possibly damaging Het
Or4k15c T C 14: 50,321,156 (GRCm39) probably null Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
P3h3 A G 6: 124,831,371 (GRCm39) V338A possibly damaging Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pcdha7 T C 18: 37,108,460 (GRCm39) V495A possibly damaging Het
Plcb3 T C 19: 6,933,640 (GRCm39) E895G probably benign Het
Plekha5 A G 6: 140,516,057 (GRCm39) E770G probably damaging Het
Ptchd3 C T 11: 121,727,257 (GRCm39) S377F probably damaging Het
Ptprj C T 2: 90,270,299 (GRCm39) D1266N probably damaging Het
Raly A T 2: 154,707,853 (GRCm39) E291V probably damaging Het
Rnf217 C A 10: 31,484,759 (GRCm39) C141F possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc12a3 A G 8: 95,083,714 (GRCm39) M914V probably null Het
Tbc1d9 A G 8: 83,997,547 (GRCm39) T1035A probably damaging Het
Tex14 C T 11: 87,427,655 (GRCm39) R36* probably null Het
Tiparp A G 3: 65,453,768 (GRCm39) D172G probably benign Het
Ttc3 T A 16: 94,267,736 (GRCm39) probably benign Het
Uap1 A T 1: 169,970,994 (GRCm39) I466N probably damaging Het
Ubr1 T C 2: 120,772,963 (GRCm39) T426A possibly damaging Het
Vmn1r77 T A 7: 11,775,756 (GRCm39) H177Q probably benign Het
Vmn2r72 T A 7: 85,401,134 (GRCm39) H95L probably benign Het
Vwc2l G A 1: 70,921,298 (GRCm39) C151Y probably damaging Het
Wdr12 T C 1: 60,117,354 (GRCm39) Y414C probably benign Het
Zfp609 A C 9: 65,610,890 (GRCm39) V691G probably benign Het
Zmiz1 T C 14: 25,646,084 (GRCm39) Y254H probably damaging 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
R0909:Mrpl44 UTSW 1 79,757,370 (GRCm39) missense probably benign 0.43
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
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'- AGTACACTAGCCATGCTCCC -3'
(R):5'- TAGTGAGATTCTGCAGGGGAC -3'

Sequencing Primer
(F):5'- TGCACCAGTTTCCGGGGAAC -3'
(R):5'- ACAGCCCAGCCCCTGTC -3'
Posted On 2015-08-18