Incidental Mutation 'IGL01720:Mrpl49'
ID 105048
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl49
Ensembl Gene ENSMUSG00000007338
Gene Name mitochondrial ribosomal protein L49
Synonyms 4833419D18Rik, Nof1
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # IGL01720
Quality Score
Status
Chromosome 19
Chromosomal Location 6103660-6107785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 6105187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 91 (M91I)
Ref Sequence ENSEMBL: ENSMUSP00000007482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007482] [ENSMUST00000025723] [ENSMUST00000043074] [ENSMUST00000134667] [ENSMUST00000138532] [ENSMUST00000179142] [ENSMUST00000156550] [ENSMUST00000178310]
AlphaFold Q9CQ40
Predicted Effect possibly damaging
Transcript: ENSMUST00000007482
AA Change: M91I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000007482
Gene: ENSMUSG00000007338
AA Change: M91I

DomainStartEndE-ValueType
Pfam:Img2 82 166 5.1e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025723
SMART Domains Protein: ENSMUSP00000025723
Gene: ENSMUSG00000024807

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
transmembrane domain 45 67 N/A INTRINSIC
transmembrane domain 103 120 N/A INTRINSIC
transmembrane domain 124 146 N/A INTRINSIC
transmembrane domain 159 181 N/A INTRINSIC
RING 240 278 4.7e-10 SMART
low complexity region 286 357 N/A INTRINSIC
low complexity region 365 426 N/A INTRINSIC
low complexity region 488 528 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000043074
SMART Domains Protein: ENSMUSP00000042835
Gene: ENSMUSG00000038274

DomainStartEndE-ValueType
UBQ 1 70 2.55e-20 SMART
Pfam:Ribosomal_S30 75 133 9.4e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134667
SMART Domains Protein: ENSMUSP00000114960
Gene: ENSMUSG00000024807

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
transmembrane domain 45 67 N/A INTRINSIC
transmembrane domain 103 120 N/A INTRINSIC
transmembrane domain 133 155 N/A INTRINSIC
transmembrane domain 170 192 N/A INTRINSIC
transmembrane domain 213 235 N/A INTRINSIC
RING 291 329 9.74e-8 SMART
low complexity region 337 408 N/A INTRINSIC
low complexity region 416 477 N/A INTRINSIC
low complexity region 539 579 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138532
SMART Domains Protein: ENSMUSP00000114843
Gene: ENSMUSG00000024807

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
transmembrane domain 45 67 N/A INTRINSIC
transmembrane domain 103 120 N/A INTRINSIC
transmembrane domain 133 155 N/A INTRINSIC
transmembrane domain 170 192 N/A INTRINSIC
transmembrane domain 213 235 N/A INTRINSIC
RING 291 329 9.74e-8 SMART
low complexity region 337 408 N/A INTRINSIC
low complexity region 416 477 N/A INTRINSIC
low complexity region 539 579 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142101
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184338
Predicted Effect probably benign
Transcript: ENSMUST00000179142
SMART Domains Protein: ENSMUSP00000136358
Gene: ENSMUSG00000038274

DomainStartEndE-ValueType
UBQ 1 70 2.55e-20 SMART
Pfam:Ribosomal_S30 75 132 6.7e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156550
SMART Domains Protein: ENSMUSP00000121885
Gene: ENSMUSG00000024807

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
transmembrane domain 45 67 N/A INTRINSIC
transmembrane domain 103 120 N/A INTRINSIC
transmembrane domain 133 155 N/A INTRINSIC
transmembrane domain 170 192 N/A INTRINSIC
transmembrane domain 213 235 N/A INTRINSIC
RING 291 329 9.74e-8 SMART
low complexity region 337 408 N/A INTRINSIC
low complexity region 416 477 N/A INTRINSIC
low complexity region 539 573 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178310
SMART Domains Protein: ENSMUSP00000136803
Gene: ENSMUSG00000038274

DomainStartEndE-ValueType
UBQ 1 70 2.55e-20 SMART
Pfam:Ribosomal_S30 75 133 9.4e-34 PFAM
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. Pseudogenes corresponding to this gene are found on chromosomes 5q and 8p. [provided by RefSeq, May 2011]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G A 6: 85,605,076 (GRCm39) R1773Q probably benign Het
Apc2 T C 10: 80,150,333 (GRCm39) S1796P probably benign Het
Asxl3 A T 18: 22,658,382 (GRCm39) I2131F probably damaging Het
Cdc42bpa T A 1: 179,938,847 (GRCm39) D833E probably damaging Het
Cenpc1 A G 5: 86,193,284 (GRCm39) S202P possibly damaging Het
Cenpf T C 1: 189,414,583 (GRCm39) E178G probably benign Het
Cenpf T C 1: 189,383,412 (GRCm39) Y2636C probably damaging Het
Cfap251 A G 5: 123,460,557 (GRCm39) D1173G probably benign Het
Chkb C T 15: 89,312,155 (GRCm39) probably null Het
Cldn20 A G 17: 3,583,375 (GRCm39) T183A probably benign Het
Cpne8 C T 15: 90,385,703 (GRCm39) V442I probably benign Het
Cx3cl1 T A 8: 95,504,701 (GRCm39) M39K probably damaging Het
Dgkd T A 1: 87,864,487 (GRCm39) L124Q probably damaging Het
Duxf4 A C 10: 58,072,211 (GRCm39) M1R probably null Het
Fam180a T C 6: 35,290,500 (GRCm39) H161R probably benign Het
Galt C A 4: 41,757,463 (GRCm39) R212S probably damaging Het
Gja10 T C 4: 32,601,007 (GRCm39) D459G probably benign Het
Glb1 T C 9: 114,249,573 (GRCm39) probably null Het
Gm5709 A T 3: 59,513,975 (GRCm39) noncoding transcript Het
Igf2r A G 17: 12,920,200 (GRCm39) Y1380H probably damaging Het
Jag1 C T 2: 136,929,023 (GRCm39) G811D probably damaging Het
Lrguk T C 6: 34,020,412 (GRCm39) F52S probably damaging Het
Lrrc15 A T 16: 30,092,138 (GRCm39) N400K probably benign Het
Map3k12 A G 15: 102,410,621 (GRCm39) probably benign Het
Mbnl2 C T 14: 120,562,682 (GRCm39) T11I probably damaging Het
Mettl22 T C 16: 8,302,117 (GRCm39) probably benign Het
Mgat4a G A 1: 37,483,979 (GRCm39) A497V probably damaging Het
Or2ag18 A T 7: 106,405,416 (GRCm39) D84E probably damaging Het
Or2q1 G A 6: 42,794,527 (GRCm39) V41I probably benign Het
Pcdhb5 T G 18: 37,454,075 (GRCm39) S152A probably benign Het
Ppp1r13b T C 12: 111,824,694 (GRCm39) T102A probably benign Het
Pramel23 T A 4: 143,423,410 (GRCm39) probably benign Het
Prodh2 A G 7: 30,210,628 (GRCm39) D393G probably damaging Het
Pyroxd1 A G 6: 142,296,784 (GRCm39) probably benign Het
Rad17 A T 13: 100,759,366 (GRCm39) C554S possibly damaging Het
Rapgef5 T C 12: 117,577,055 (GRCm39) probably benign Het
Setdb2 A G 14: 59,660,885 (GRCm39) V86A possibly damaging Het
Slc38a2 A T 15: 96,589,092 (GRCm39) probably benign Het
Slc9c1 A G 16: 45,376,132 (GRCm39) Y406C probably damaging Het
Slit1 T C 19: 41,622,653 (GRCm39) D702G probably benign Het
Stat3 T C 11: 100,794,484 (GRCm39) H275R possibly damaging Het
Susd5 T A 9: 113,893,052 (GRCm39) N43K possibly damaging Het
Ttc3 A T 16: 94,186,228 (GRCm39) K124N probably damaging Het
Usp36 C A 11: 118,165,828 (GRCm39) R165L probably damaging Het
Vwf G A 6: 125,619,798 (GRCm39) R1492Q possibly damaging Het
Zbed6 A G 1: 133,585,264 (GRCm39) V691A possibly damaging Het
Other mutations in Mrpl49
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02633:Mrpl49 APN 19 6,104,931 (GRCm39) missense possibly damaging 0.83
R1872:Mrpl49 UTSW 19 6,107,010 (GRCm39) missense possibly damaging 0.95
R4030:Mrpl49 UTSW 19 6,105,230 (GRCm39) missense probably benign 0.01
R7844:Mrpl49 UTSW 19 6,105,200 (GRCm39) missense probably damaging 1.00
R9235:Mrpl49 UTSW 19 6,105,147 (GRCm39) nonsense probably null
Posted On 2014-01-21