Incidental Mutation 'R8713:Mrpl44'
ID 669691
Institutional Source Beutler Lab
Gene Symbol Mrpl44
Ensembl Gene ENSMUSG00000026248
Gene Name mitochondrial ribosomal protein L44
Synonyms 1810030E18Rik, 5730593H20Rik
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 79776018-79781445 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79777991 bp (GRCm38)
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

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
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: 35,873,174 (GRCm38) A581V possibly damaging Het
Adam18 T A 8: 24,652,173 (GRCm38) M196L probably benign Het
Ankrd10 A G 8: 11,628,491 (GRCm38) S134P probably damaging Het
Ano8 C T 8: 71,485,077 (GRCm38) G47D probably damaging Het
Arl6ip4 T C 5: 124,116,762 (GRCm38) V4A unknown Het
Cabp4 C T 19: 4,136,160 (GRCm38) M247I probably benign Het
Ccdc30 A T 4: 119,404,207 (GRCm38) L11Q probably damaging Het
Cdkl4 A G 17: 80,533,863 (GRCm38) S288P possibly damaging Het
Celsr3 A G 9: 108,829,863 (GRCm38) I1182V probably benign Het
Dnah17 T C 11: 118,088,202 (GRCm38) D1788G probably damaging Het
Dsp A G 13: 38,168,725 (GRCm38) D193G probably damaging Het
Dym T G 18: 75,056,738 (GRCm38) Y132* probably null Het
Dync2h1 G A 9: 7,141,008 (GRCm38) Q1340* probably null Het
Elmo1 T C 13: 20,274,621 (GRCm38) probably benign Het
Fbxw15 A C 9: 109,555,599 (GRCm38) F378V possibly damaging Het
Fsip2 G A 2: 82,981,109 (GRCm38) G2591R probably damaging Het
Gps2 C A 11: 69,915,354 (GRCm38) D148E probably benign Het
Iars2 T C 1: 185,291,418 (GRCm38) D772G possibly damaging Het
Ifit1 T A 19: 34,647,638 (GRCm38) L58Q probably benign Het
Kctd4 A T 14: 75,962,926 (GRCm38) Q112H probably benign Het
Letm1 A G 5: 33,762,505 (GRCm38) L230P probably damaging Het
Lrch4 G T 5: 137,639,863 (GRCm38) E136* probably null Het
Macc1 T C 12: 119,443,526 (GRCm38) probably benign Het
Macrod1 T C 19: 7,057,126 (GRCm38) L79P probably benign Het
Map2 T A 1: 66,414,622 (GRCm38) N890K probably damaging Het
Mctp1 G A 13: 76,641,803 (GRCm38) S270N probably benign Het
Mtg1 T C 7: 140,140,223 (GRCm38) F68L probably benign Het
Mtg1 T A 7: 140,137,775 (GRCm38) probably null Het
Nfil3 A G 13: 52,968,011 (GRCm38) S286P possibly damaging Het
Nutm1 A G 2: 112,251,322 (GRCm38) V332A possibly damaging Het
Obscn T A 11: 59,135,966 (GRCm38) Q137L probably benign Het
Pcnx2 T G 8: 125,818,786 (GRCm38) E1162A probably damaging Het
Pgr A G 9: 8,900,817 (GRCm38) D117G possibly damaging Het
Plce1 T C 19: 38,524,901 (GRCm38) C215R probably benign Het
Rrm1 T G 7: 102,460,351 (GRCm38) Y461D probably damaging Het
Sbk3 C T 7: 4,969,992 (GRCm38) V60I possibly damaging Het
Scube1 G T 15: 83,610,270 (GRCm38) A852E possibly damaging Het
Sec24d T A 3: 123,343,892 (GRCm38) I561N probably damaging Het
Slc16a4 T C 3: 107,311,585 (GRCm38) *501Q probably null Het
Slc6a19 C A 13: 73,700,621 (GRCm38) V5L probably benign Het
Spryd3 A G 15: 102,133,485 (GRCm38) I34T possibly damaging Het
Syne1 A G 10: 5,316,040 (GRCm38) L2191P probably damaging Het
Tbrg1 A G 9: 37,652,659 (GRCm38) C227R probably damaging Het
Tdrd6 A G 17: 43,625,019 (GRCm38) S1713P probably benign Het
Thap12 C T 7: 98,707,076 (GRCm38) L57F probably benign Het
Top1 G A 2: 160,717,440 (GRCm38) V628I probably damaging Het
Trim67 A G 8: 124,820,335 (GRCm38) M495V probably null Het
Trio A C 15: 27,743,951 (GRCm38) probably benign Het
Vmn2r23 A T 6: 123,703,032 (GRCm38) Y71F Het
Ywhah A G 5: 33,027,191 (GRCm38) N246S probably benign Het
Zcwpw1 T C 5: 137,799,532 (GRCm38) I125T probably benign Het
Other mutations in Mrpl44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Mrpl44 APN 1 79,781,004 (GRCm38) missense probably benign 0.01
IGL02633:Mrpl44 APN 1 79,776,145 (GRCm38) missense probably benign 0.02
R0054:Mrpl44 UTSW 1 79,779,495 (GRCm38) missense probably damaging 1.00
R0054:Mrpl44 UTSW 1 79,779,495 (GRCm38) missense probably damaging 1.00
R0909:Mrpl44 UTSW 1 79,779,653 (GRCm38) missense probably benign 0.43
R1180:Mrpl44 UTSW 1 79,777,960 (GRCm38) missense probably damaging 0.99
R1347:Mrpl44 UTSW 1 79,777,952 (GRCm38) missense probably damaging 1.00
R1347:Mrpl44 UTSW 1 79,777,952 (GRCm38) missense probably damaging 1.00
R1448:Mrpl44 UTSW 1 79,777,960 (GRCm38) missense probably damaging 0.99
R3689:Mrpl44 UTSW 1 79,779,649 (GRCm38) nonsense probably null
R3690:Mrpl44 UTSW 1 79,779,649 (GRCm38) nonsense probably null
R4533:Mrpl44 UTSW 1 79,776,254 (GRCm38) missense possibly damaging 0.91
R4818:Mrpl44 UTSW 1 79,780,977 (GRCm38) missense probably benign 0.00
R4893:Mrpl44 UTSW 1 79,777,865 (GRCm38) missense probably damaging 0.97
R6178:Mrpl44 UTSW 1 79,778,178 (GRCm38) missense possibly damaging 0.76
R8795:Mrpl44 UTSW 1 79,776,257 (GRCm38) missense probably damaging 0.99
X0018:Mrpl44 UTSW 1 79,778,075 (GRCm38) missense probably benign 0.18
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2021-04-30