Incidental Mutation 'R8713:Mrpl44'
ID 669691
Institutional Source Beutler Lab
Gene Symbol Mrpl44
Ensembl Gene ENSMUSG00000026248
Gene Name mitochondrial ribosomal protein L44
Synonyms 5730593H20Rik, 1810030E18Rik
MMRRC Submission 068567-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8713 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 79753735-79759162 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79755708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 105 (R105C)
Ref Sequence ENSEMBL: ENSMUSP00000027464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027464] [ENSMUST00000143368]
AlphaFold Q9CY73
Predicted Effect probably damaging
Transcript: ENSMUST00000027464
AA Change: R105C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027464
Gene: ENSMUSG00000026248
AA Change: R105C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (52/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 36,030,518 (GRCm39) A581V possibly damaging Het
Adam18 T A 8: 25,142,189 (GRCm39) M196L probably benign Het
Ankrd10 A G 8: 11,678,491 (GRCm39) S134P probably damaging Het
Ano8 C T 8: 71,937,721 (GRCm39) G47D probably damaging Het
Arl6ip4 T C 5: 124,254,825 (GRCm39) V4A unknown Het
Cabp4 C T 19: 4,186,159 (GRCm39) M247I probably benign Het
Ccdc30 A T 4: 119,261,404 (GRCm39) L11Q probably damaging Het
Cdkl4 A G 17: 80,841,292 (GRCm39) S288P possibly damaging Het
Celsr3 A G 9: 108,707,062 (GRCm39) I1182V probably benign Het
Dnah17 T C 11: 117,979,028 (GRCm39) D1788G probably damaging Het
Dsp A G 13: 38,352,701 (GRCm39) D193G probably damaging Het
Dym T G 18: 75,189,809 (GRCm39) Y132* probably null Het
Dync2h1 G A 9: 7,141,008 (GRCm39) Q1340* probably null Het
Elmo1 T C 13: 20,458,791 (GRCm39) probably benign Het
Fbxw15 A C 9: 109,384,667 (GRCm39) F378V possibly damaging Het
Fsip2 G A 2: 82,811,453 (GRCm39) G2591R probably damaging Het
Gps2 C A 11: 69,806,180 (GRCm39) D148E probably benign Het
Iars2 T C 1: 185,023,615 (GRCm39) D772G possibly damaging Het
Ifit1 T A 19: 34,625,038 (GRCm39) L58Q probably benign Het
Kctd4 A T 14: 76,200,366 (GRCm39) Q112H probably benign Het
Letm1 A G 5: 33,919,849 (GRCm39) L230P probably damaging Het
Lrch4 G T 5: 137,638,125 (GRCm39) E136* probably null Het
Macc1 T C 12: 119,407,261 (GRCm39) probably benign Het
Macrod1 T C 19: 7,034,494 (GRCm39) L79P probably benign Het
Map2 T A 1: 66,453,781 (GRCm39) N890K probably damaging Het
Mctp1 G A 13: 76,789,922 (GRCm39) S270N probably benign Het
Mtg1 T A 7: 139,717,688 (GRCm39) probably null Het
Mtg1 T C 7: 139,720,136 (GRCm39) F68L probably benign Het
Nfil3 A G 13: 53,122,047 (GRCm39) S286P possibly damaging Het
Nutm1 A G 2: 112,081,667 (GRCm39) V332A possibly damaging Het
Obscn T A 11: 59,026,792 (GRCm39) Q137L probably benign Het
Pcnx2 T G 8: 126,545,525 (GRCm39) E1162A probably damaging Het
Pgr A G 9: 8,900,818 (GRCm39) D117G possibly damaging Het
Plce1 T C 19: 38,513,345 (GRCm39) C215R probably benign Het
Rrm1 T G 7: 102,109,558 (GRCm39) Y461D probably damaging Het
Sbk3 C T 7: 4,972,991 (GRCm39) V60I possibly damaging Het
Scube1 G T 15: 83,494,471 (GRCm39) A852E possibly damaging Het
Sec24d T A 3: 123,137,541 (GRCm39) I561N probably damaging Het
Slc16a4 T C 3: 107,218,901 (GRCm39) *501Q probably null Het
Slc6a19 C A 13: 73,848,740 (GRCm39) V5L probably benign Het
Spryd3 A G 15: 102,041,920 (GRCm39) I34T possibly damaging Het
Syne1 A G 10: 5,266,040 (GRCm39) L2191P probably damaging Het
Tbrg1 A G 9: 37,563,955 (GRCm39) C227R probably damaging Het
Tdrd6 A G 17: 43,935,910 (GRCm39) S1713P probably benign Het
Thap12 C T 7: 98,356,283 (GRCm39) L57F probably benign Het
Top1 G A 2: 160,559,360 (GRCm39) V628I probably damaging Het
Trim67 A G 8: 125,547,074 (GRCm39) M495V probably null Het
Trio A C 15: 27,744,037 (GRCm39) probably benign Het
Vmn2r23 A T 6: 123,679,991 (GRCm39) Y71F Het
Ywhah A G 5: 33,184,535 (GRCm39) N246S probably benign Het
Zcwpw1 T C 5: 137,797,794 (GRCm39) I125T 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
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
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'- ACCTTACGTGGTACCATGC -3'
(R):5'- TCTGCACTGAGGGTCAACTG -3'

Sequencing Primer
(F):5'- ACGTGGTACCATGCCCTCC -3'
(R):5'- ACTGAGGGTCAACTGCTCCAC -3'
Posted On 2021-04-30