Incidental Mutation 'R1180:Mrpl44'
ID 101444
Institutional Source Beutler Lab
Gene Symbol Mrpl44
Ensembl Gene ENSMUSG00000026248
Gene Name mitochondrial ribosomal protein L44
Synonyms 5730593H20Rik, 1810030E18Rik
MMRRC Submission 039252-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1180 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 79753735-79759162 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79755677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 94 (N94K)
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: N94K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027464
Gene: ENSMUSG00000026248
AA Change: N94K

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 0.6829 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.5%
  • 20x: 87.5%
Validation Efficiency 98% (55/56)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,275,141 (GRCm39) D281E probably benign Het
Adam24 T G 8: 41,134,467 (GRCm39) V645G probably damaging Het
Apcdd1 A T 18: 63,070,168 (GRCm39) Y145F probably damaging Het
Cadps A G 14: 12,457,836 (GRCm38) probably benign Het
Camk1d A T 2: 5,366,836 (GRCm39) Y126* probably null Het
Chd8 A C 14: 52,458,565 (GRCm39) S848A probably damaging Het
Col6a3 T C 1: 90,709,577 (GRCm39) K1873R unknown Het
Cpd T C 11: 76,692,579 (GRCm39) T753A possibly damaging Het
Cxcr2 A T 1: 74,197,527 (GRCm39) D7V probably benign Het
Dock4 A G 12: 40,690,413 (GRCm39) E173G possibly damaging Het
EU599041 G A 7: 42,875,731 (GRCm39) noncoding transcript Het
Fer1l6 G A 15: 58,474,160 (GRCm39) probably benign Het
Flt3 T C 5: 147,278,048 (GRCm39) D842G probably damaging Het
Foxp4 G C 17: 48,191,278 (GRCm39) probably benign Het
Fsip2 T C 2: 82,805,570 (GRCm39) Y630H probably damaging Het
Gprin3 C A 6: 59,331,921 (GRCm39) V129F possibly damaging Het
Gstm1 A G 3: 107,922,127 (GRCm39) F170S probably damaging Het
Hoxa3 A C 6: 52,147,382 (GRCm39) Y290* probably null Het
Htra4 G T 8: 25,523,735 (GRCm39) L277I probably damaging Het
Jak2 A G 19: 29,259,899 (GRCm39) Y266C probably damaging Het
Kif6 T A 17: 50,139,284 (GRCm39) probably benign Het
Kiz C T 2: 146,811,927 (GRCm39) R679C unknown Het
Kyat3 A C 3: 142,443,531 (GRCm39) probably null Het
Mipep G A 14: 61,071,505 (GRCm39) V537I probably damaging Het
Mstn A T 1: 53,103,167 (GRCm39) T168S possibly damaging Het
Mx2 G A 16: 97,357,209 (GRCm39) R434H probably damaging Het
Myh6 A G 14: 55,181,925 (GRCm39) I1792T possibly damaging Het
Myo16 T C 8: 10,446,908 (GRCm39) S450P probably damaging Het
Nherf4 T A 9: 44,160,543 (GRCm39) D284V probably benign Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Or3a1b A G 11: 74,012,406 (GRCm39) Y97C probably benign Het
Or5d16 G A 2: 87,773,490 (GRCm39) L161F probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Pkhd1 C T 1: 20,655,381 (GRCm39) probably null Het
Psmd8 A T 7: 28,874,825 (GRCm39) V248E probably benign Het
Ranbp2 A G 10: 58,301,285 (GRCm39) Y646C probably damaging Het
Samsn1 C T 16: 75,670,536 (GRCm39) G189E probably damaging Het
Sec61g A C 11: 16,454,722 (GRCm39) probably benign Het
Sfmbt2 C T 2: 10,406,877 (GRCm39) H59Y probably damaging Het
Shb T C 4: 45,423,996 (GRCm39) I486V possibly damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Spag16 G A 1: 69,962,817 (GRCm39) probably benign Het
Spink13 A G 18: 62,741,241 (GRCm39) probably benign Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tk1 A G 11: 117,712,921 (GRCm39) probably null Het
Tnni3k A T 3: 154,581,150 (GRCm39) H600Q probably damaging Het
Ttn A T 2: 76,800,047 (GRCm39) I387N probably damaging Het
Ube2q2 T C 9: 55,102,700 (GRCm39) probably benign Het
Utp14b C A 1: 78,643,162 (GRCm39) N353K probably damaging Het
Zfp474 C T 18: 52,771,814 (GRCm39) Q156* 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
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
Predicted Primers PCR Primer
(F):5'- AGCAGAGCAGCCTAATGTGATGTG -3'
(R):5'- GGCAAGTCTGGGAATTCGTCTTCG -3'

Sequencing Primer
(F):5'- ACGGACTGCCAGTGGTTATC -3'
(R):5'- CTGGGAATTCGTCTTCGAGAAAC -3'
Posted On 2014-01-15