Incidental Mutation 'IGL02633:Mrpl44'
ID 301385
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl44
Ensembl Gene ENSMUSG00000026248
Gene Name mitochondrial ribosomal protein L44
Synonyms 5730593H20Rik, 1810030E18Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02633
Quality Score
Status
Chromosome 1
Chromosomal Location 79753735-79759162 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79753862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 5 (V5I)
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: V5I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000027464
Gene: ENSMUSG00000026248
AA Change: V5I

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abitram T C 4: 56,806,131 (GRCm39) V181A possibly damaging Het
Aff4 T C 11: 53,300,198 (GRCm39) probably benign Het
Ap1g2 T C 14: 55,338,104 (GRCm39) probably null Het
Aspn A T 13: 49,705,363 (GRCm39) Y75F possibly damaging Het
Atm G A 9: 53,359,453 (GRCm39) T2783I probably damaging Het
Cacnb1 A T 11: 97,913,199 (GRCm39) I18N probably damaging Het
Casr T C 16: 36,336,017 (GRCm39) I97M probably damaging Het
Cnga2 T A X: 71,048,655 (GRCm39) probably benign Het
Coasy T A 11: 100,976,147 (GRCm39) L425Q probably damaging Het
Cps1 A G 1: 67,162,396 (GRCm39) T25A probably benign Het
Dnah1 T C 14: 31,006,772 (GRCm39) Y2181C probably benign Het
Efna3 A C 3: 89,222,749 (GRCm39) S230A probably damaging Het
Eng A G 2: 32,563,286 (GRCm39) I281V probably damaging Het
Erlec1 T A 11: 30,898,430 (GRCm39) R14* probably null Het
Gbp9 C T 5: 105,231,431 (GRCm39) probably benign Het
Gzmg T C 14: 56,394,160 (GRCm39) M245V probably damaging Het
Kdm5a A G 6: 120,341,680 (GRCm39) I36V probably damaging Het
Krt87 A G 15: 101,389,095 (GRCm39) V79A probably damaging Het
Limd1 A T 9: 123,308,987 (GRCm39) probably benign Het
Lmo4 T C 3: 143,899,683 (GRCm39) S155G probably benign Het
Mrpl49 T C 19: 6,104,931 (GRCm39) T146A possibly damaging Het
Mrpl58 T C 11: 115,301,457 (GRCm39) probably benign Het
Nab1 C T 1: 52,529,292 (GRCm39) V202M probably damaging Het
Nav3 T A 10: 109,527,997 (GRCm39) M2229L probably benign Het
Notch2 C T 3: 98,024,013 (GRCm39) probably benign Het
Nub1 A G 5: 24,897,931 (GRCm39) I106V probably benign Het
Prom1 A T 5: 44,172,117 (GRCm39) S595T probably benign Het
Rbfox1 T A 16: 7,110,078 (GRCm39) S165R probably damaging Het
Sipa1l2 G A 8: 126,174,507 (GRCm39) T1257I probably damaging Het
Smarcc2 T C 10: 128,305,556 (GRCm39) S327P probably damaging Het
Tdpoz1 T C 3: 93,578,056 (GRCm39) M243V probably benign Het
Ttn G T 2: 76,549,289 (GRCm39) T23469K probably damaging Het
Ube2u T C 4: 100,339,971 (GRCm39) probably benign Het
Umodl1 T C 17: 31,208,462 (GRCm39) Y836H probably damaging Het
Vmn2r45 A G 7: 8,488,728 (GRCm39) Y101H probably benign Het
Vps13a T A 19: 16,697,772 (GRCm39) Q781L possibly damaging Het
Vwce G A 19: 10,625,858 (GRCm39) V457M probably damaging Het
Other mutations in Mrpl44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Mrpl44 APN 1 79,758,721 (GRCm39) missense probably benign 0.01
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
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
Posted On 2015-04-16