Incidental Mutation 'R6178:Mrpl44'
ID 487855
Institutional Source Beutler Lab
Gene Symbol Mrpl44
Ensembl Gene ENSMUSG00000026248
Gene Name mitochondrial ribosomal protein L44
Synonyms 5730593H20Rik, 1810030E18Rik
MMRRC Submission 044320-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6178 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 79753735-79759162 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 79755895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 167 (C167F)
Ref Sequence ENSEMBL: ENSMUSP00000027464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027464] [ENSMUST00000143368]
AlphaFold Q9CY73
Predicted Effect possibly damaging
Transcript: ENSMUST00000027464
AA Change: C167F

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000027464
Gene: ENSMUSG00000026248
AA Change: C167F

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
Meta Mutation Damage Score 0.5571 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.0%
Validation Efficiency 98% (54/55)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,678,468 (GRCm39) I61V probably benign Het
Afg3l2 G A 18: 67,542,598 (GRCm39) T616I possibly damaging Het
Aktip T C 8: 91,852,671 (GRCm39) N195S probably damaging Het
Ankfy1 G A 11: 72,645,285 (GRCm39) C788Y probably benign Het
Atg7 T A 6: 114,701,856 (GRCm39) I621N probably damaging Het
Becn1 T A 11: 101,182,336 (GRCm39) I283F probably damaging Het
Btnl12 T C 16: 37,676,422 (GRCm39) Y115C probably damaging Het
C4b T C 17: 34,952,380 (GRCm39) T1220A probably benign Het
Celsr1 C A 15: 85,785,222 (GRCm39) R3004M probably benign Het
Clspn A T 4: 126,471,529 (GRCm39) probably null Het
Csmd3 T C 15: 48,536,854 (GRCm39) Y116C probably damaging Het
Dcp1a T G 14: 30,245,261 (GRCm39) *603G probably null Het
Dmrtc1b C T X: 101,757,169 (GRCm39) P205S possibly damaging Het
Fev G T 1: 74,923,698 (GRCm39) probably benign Het
Fry T A 5: 150,377,987 (GRCm39) V393E probably damaging Het
Gm30646 A G 7: 30,132,081 (GRCm39) probably null Het
Gm3676 C T 14: 41,363,452 (GRCm39) E175K probably benign Het
Gm4847 T C 1: 166,469,905 (GRCm39) Y56C probably damaging Het
Gm5422 T C 10: 31,125,688 (GRCm39) noncoding transcript Het
Gstm6 A G 3: 107,848,397 (GRCm39) V174A probably benign Het
Isoc1 G T 18: 58,804,664 (GRCm39) V191F possibly damaging Het
Kalrn T A 16: 33,874,009 (GRCm39) D132V possibly damaging Het
Kcp T C 6: 29,482,887 (GRCm39) D1394G possibly damaging Het
Marchf10 T G 11: 105,280,440 (GRCm39) D615A probably damaging Het
Mau2 A G 8: 70,495,187 (GRCm39) I50T probably damaging Het
Mgp A G 6: 136,849,722 (GRCm39) C79R probably damaging Het
Mpdz T A 4: 81,226,602 (GRCm39) K1344N probably damaging Het
Mrgpre T A 7: 143,334,708 (GRCm39) Y265F possibly damaging Het
Mro G A 18: 74,006,295 (GRCm39) V80M possibly damaging Het
Muc5b A G 7: 141,410,079 (GRCm39) M1218V probably null Het
Naa16 T C 14: 79,620,780 (GRCm39) I100V possibly damaging Het
Nup205 A T 6: 35,220,778 (GRCm39) Y1860F possibly damaging Het
Or10aa3 A T 1: 173,878,533 (GRCm39) Y198F probably benign Het
Or14c40 A G 7: 86,313,819 (GRCm39) I316M probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or4c103 T C 2: 88,513,977 (GRCm39) Y33C probably damaging Het
Plcb3 A G 19: 6,932,071 (GRCm39) probably null Het
Pnpla3 G A 15: 84,065,132 (GRCm39) A309T probably benign Het
Ranbp10 A G 8: 106,498,296 (GRCm39) S624P possibly damaging Het
Ripor2 T C 13: 24,894,113 (GRCm39) S714P possibly damaging Het
Robo4 C T 9: 37,316,926 (GRCm39) Q414* probably null Het
Shc2 A G 10: 79,465,954 (GRCm39) I161T probably damaging Het
Slc35b2 C T 17: 45,877,302 (GRCm39) T143I probably benign Het
Slc39a13 T C 2: 90,898,880 (GRCm39) D77G probably damaging Het
Snx6 A C 12: 54,807,249 (GRCm39) D243E probably damaging Het
Taar8b A G 10: 23,967,711 (GRCm39) V161A probably benign Het
Tbr1 T A 2: 61,635,159 (GRCm39) D36E possibly damaging Het
Tdpoz2 T C 3: 93,559,618 (GRCm39) N118S probably benign Het
Tgfb1i1 T C 7: 127,852,517 (GRCm39) F478L probably damaging Het
Tmprss11f T C 5: 86,704,837 (GRCm39) D27G probably benign Het
Trim30d T G 7: 104,137,202 (GRCm39) M1L probably damaging Het
Trpm7 A G 2: 126,679,301 (GRCm39) V420A probably damaging Het
Ubap2 G T 4: 41,206,981 (GRCm39) P199H probably benign Het
Ubash3b T C 9: 40,926,212 (GRCm39) T512A probably damaging Het
Zfp65 G A 13: 67,858,437 (GRCm39) P76S probably benign Het
Zic5 A T 14: 122,696,748 (GRCm39) H622Q unknown Het
Zpld1 A T 16: 55,053,993 (GRCm39) N266K probably damaging Het
Zswim1 A G 2: 164,667,972 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- AGCTGCTACATCAAAAGCGAAG -3'
(R):5'- AGACTGTCTGAACAAGTGCATC -3'

Sequencing Primer
(F):5'- ACGTCAGAGCCTTGGCATAG -3'
(R):5'- TGTCTGAACAAGTGCATCTAACC -3'
Posted On 2017-10-10