Incidental Mutation 'IGL00327:Mrpl44'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl44
Ensembl Gene ENSMUSG00000026248
Gene Namemitochondrial ribosomal protein L44
Synonyms1810030E18Rik, 5730593H20Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00327
Quality Score
Chromosomal Location79776018-79781445 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 79781004 bp
Amino Acid Change Leucine to Phenylalanine at position 290 (L290F)
Ref Sequence ENSEMBL: ENSMUSP00000027464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027464] [ENSMUST00000143368]
Predicted Effect probably benign
Transcript: ENSMUST00000027464
AA Change: L290F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000027464
Gene: ENSMUSG00000026248
AA Change: L290F

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

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
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg16l2 A G 7: 101,300,160 L60S probably damaging Het
Aup1 A G 6: 83,056,409 E267G probably damaging Het
Bpi T C 2: 158,274,844 probably benign Het
Brinp2 A G 1: 158,247,100 Y484H probably benign Het
Colq C T 14: 31,535,588 probably null Het
Cubn T C 2: 13,427,056 D1242G possibly damaging Het
Dclre1c T A 2: 3,433,784 L95* probably null Het
Fry C T 5: 150,340,404 R171* probably null Het
Krt23 T C 11: 99,492,784 E94G probably damaging Het
Krt6b T G 15: 101,679,832 Q131P probably benign Het
Lonp1 A G 17: 56,619,265 L414P probably damaging Het
Lrit2 T A 14: 37,071,963 M328K probably benign Het
Lysmd3 C T 13: 81,665,078 L22F probably benign Het
Map3k20 A G 2: 72,412,170 D388G probably damaging Het
Nell1 A G 7: 50,120,673 H160R probably damaging Het
Nlrc3 T C 16: 3,955,166 N109S probably damaging Het
Prpf40a T C 2: 53,150,688 T553A probably benign Het
Ptpn23 G T 9: 110,388,106 T894K probably benign Het
Scgb2b27 A G 7: 34,013,346 C24R probably damaging Het
Sipa1l3 G T 7: 29,354,133 H140N probably damaging Het
Slc22a23 T G 13: 34,305,245 D219A probably damaging Het
Slc9a7 T C X: 20,138,919 Y557C probably damaging Het
Slco1a1 A T 6: 141,909,125 I600N probably damaging Het
Tmx2 T C 2: 84,673,299 N190S probably benign Het
Tpr T G 1: 150,423,696 probably benign Het
Yme1l1 T C 2: 23,192,500 V501A probably benign Het
Other mutations in Mrpl44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02633:Mrpl44 APN 1 79776145 missense probably benign 0.02
R0054:Mrpl44 UTSW 1 79779495 missense probably damaging 1.00
R0054:Mrpl44 UTSW 1 79779495 missense probably damaging 1.00
R0909:Mrpl44 UTSW 1 79779653 missense probably benign 0.43
R1180:Mrpl44 UTSW 1 79777960 missense probably damaging 0.99
R1347:Mrpl44 UTSW 1 79777952 missense probably damaging 1.00
R1347:Mrpl44 UTSW 1 79777952 missense probably damaging 1.00
R1448:Mrpl44 UTSW 1 79777960 missense probably damaging 0.99
R3689:Mrpl44 UTSW 1 79779649 nonsense probably null
R3690:Mrpl44 UTSW 1 79779649 nonsense probably null
R4533:Mrpl44 UTSW 1 79776254 missense possibly damaging 0.91
R4818:Mrpl44 UTSW 1 79780977 missense probably benign 0.00
R4893:Mrpl44 UTSW 1 79777865 missense probably damaging 0.97
R6178:Mrpl44 UTSW 1 79778178 missense possibly damaging 0.76
X0018:Mrpl44 UTSW 1 79778075 missense probably benign 0.18
Posted On2012-04-20