Incidental Mutation 'IGL00327:Mrpl44'
ID7437
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
Status
Chromosome1
Chromosomal Location79776018-79781445 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 79781004 bp
ZygosityHeterozygous
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

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
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