Incidental Mutation 'IGL02633:Mrpl49'
ID301403
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl49
Ensembl Gene ENSMUSG00000007338
Gene Namemitochondrial ribosomal protein L49
SynonymsNof1, 4833419D18Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.851) question?
Stock #IGL02633
Quality Score
Status
Chromosome19
Chromosomal Location6053630-6057751 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 6054901 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 146 (T146A)
Ref Sequence ENSEMBL: ENSMUSP00000007482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007482] [ENSMUST00000025723] [ENSMUST00000043074] [ENSMUST00000134667] [ENSMUST00000138532] [ENSMUST00000156550] [ENSMUST00000178310] [ENSMUST00000179142]
Predicted Effect possibly damaging
Transcript: ENSMUST00000007482
AA Change: T146A

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000007482
Gene: ENSMUSG00000007338
AA Change: T146A

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 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
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 noncoding transcript
Transcript: ENSMUST00000184338
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 T C 11: 53,409,371 probably benign Het
Ap1g2 T C 14: 55,100,647 probably null Het
Aspn A T 13: 49,551,887 Y75F possibly damaging Het
Atm G A 9: 53,448,153 T2783I probably damaging Het
Cacnb1 A T 11: 98,022,373 I18N probably damaging Het
Casr T C 16: 36,515,655 I97M probably damaging Het
Cnga2 T A X: 72,005,049 probably benign Het
Coasy T A 11: 101,085,321 L425Q probably damaging Het
Cps1 A G 1: 67,123,237 T25A probably benign Het
Dnah1 T C 14: 31,284,815 Y2181C probably benign Het
Efna3 A C 3: 89,315,442 S230A probably damaging Het
Eng A G 2: 32,673,274 I281V probably damaging Het
Erlec1 T A 11: 30,948,430 R14* probably null Het
Fam206a T C 4: 56,806,131 V181A possibly damaging Het
Gbp9 C T 5: 105,083,565 probably benign Het
Gzmg T C 14: 56,156,703 M245V probably damaging Het
Kdm5a A G 6: 120,364,719 I36V probably damaging Het
Krt83 A G 15: 101,491,214 V79A probably damaging Het
Limd1 A T 9: 123,479,922 probably benign Het
Lmo4 T C 3: 144,193,922 S155G probably benign Het
Mrpl44 G A 1: 79,776,145 V5I probably benign Het
Mrpl58 T C 11: 115,410,631 probably benign Het
Nab1 C T 1: 52,490,133 V202M probably damaging Het
Nav3 T A 10: 109,692,136 M2229L probably benign Het
Notch2 C T 3: 98,116,697 probably benign Het
Nub1 A G 5: 24,692,933 I106V probably benign Het
Prom1 A T 5: 44,014,775 S595T probably benign Het
Rbfox1 T A 16: 7,292,214 S165R probably damaging Het
Sipa1l2 G A 8: 125,447,768 T1257I probably damaging Het
Smarcc2 T C 10: 128,469,687 S327P probably damaging Het
Tdpoz1 T C 3: 93,670,749 M243V probably benign Het
Ttn G T 2: 76,718,945 T23469K probably damaging Het
Ube2u T C 4: 100,482,774 probably benign Het
Umodl1 T C 17: 30,989,488 Y836H probably damaging Het
Vmn2r45 A G 7: 8,485,729 Y101H probably benign Het
Vps13a T A 19: 16,720,408 Q781L possibly damaging Het
Vwce G A 19: 10,648,494 V457M probably damaging Het
Other mutations in Mrpl49
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01720:Mrpl49 APN 19 6055157 missense possibly damaging 0.92
R1872:Mrpl49 UTSW 19 6056980 missense possibly damaging 0.95
R4030:Mrpl49 UTSW 19 6055200 missense probably benign 0.01
R7844:Mrpl49 UTSW 19 6055170 missense probably damaging 1.00
R7927:Mrpl49 UTSW 19 6055170 missense probably damaging 1.00
Posted On2015-04-16