Incidental Mutation 'IGL00955:Mrpl24'
ID27137
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl24
Ensembl Gene ENSMUSG00000019710
Gene Namemitochondrial ribosomal protein L24
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.950) question?
Stock #IGL00955
Quality Score
Status
Chromosome3
Chromosomal Location87919506-87923672 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 87922219 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 91 (L91*)
Ref Sequence ENSEMBL: ENSMUSP00000112885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005016] [ENSMUST00000019854] [ENSMUST00000119968] [ENSMUST00000121048] [ENSMUST00000121920] [ENSMUST00000137775] [ENSMUST00000160074] [ENSMUST00000160143] [ENSMUST00000160648] [ENSMUST00000164439]
Predicted Effect probably benign
Transcript: ENSMUST00000005016
SMART Domains Protein: ENSMUSP00000005016
Gene: ENSMUSG00000004896

DomainStartEndE-ValueType
Pfam:Methyltransf_32 133 293 1.5e-29 PFAM
low complexity region 385 402 N/A INTRINSIC
low complexity region 412 426 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000019854
AA Change: L91*
SMART Domains Protein: ENSMUSP00000019854
Gene: ENSMUSG00000019710
AA Change: L91*

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
KOW 55 82 7.17e-5 SMART
Predicted Effect probably null
Transcript: ENSMUST00000119968
AA Change: L91*
SMART Domains Protein: ENSMUSP00000114111
Gene: ENSMUSG00000019710
AA Change: L91*

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
KOW 55 82 7.17e-5 SMART
Predicted Effect probably null
Transcript: ENSMUST00000121048
AA Change: L91*
SMART Domains Protein: ENSMUSP00000113959
Gene: ENSMUSG00000019710
AA Change: L91*

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
KOW 55 82 7.17e-5 SMART
Predicted Effect probably null
Transcript: ENSMUST00000121920
AA Change: L91*
SMART Domains Protein: ENSMUSP00000112885
Gene: ENSMUSG00000019710
AA Change: L91*

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
KOW 55 82 7.17e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137775
SMART Domains Protein: ENSMUSP00000142071
Gene: ENSMUSG00000019710

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
PDB:4CE4|Y 17 62 5e-21 PDB
SCOP:d1jj2s_ 24 54 2e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159091
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160068
Predicted Effect probably benign
Transcript: ENSMUST00000160074
SMART Domains Protein: ENSMUSP00000125365
Gene: ENSMUSG00000004896

DomainStartEndE-ValueType
Pfam:Methyltransf_32 69 229 1.3e-29 PFAM
low complexity region 321 338 N/A INTRINSIC
low complexity region 348 362 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160143
SMART Domains Protein: ENSMUSP00000124113
Gene: ENSMUSG00000004896

DomainStartEndE-ValueType
Pfam:Methyltransf_32 133 247 5e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161471
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168070
Predicted Effect probably benign
Transcript: ENSMUST00000160648
Predicted Effect probably benign
Transcript: ENSMUST00000164439
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. This gene encodes a 39S subunit protein which is more than twice the size of its E.coli counterpart (EcoL24). Sequence analysis identified two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl11 A T 14: 61,311,242 Q167L probably benign Het
Ces3a T A 8: 105,050,570 V175E probably damaging Het
Cherp C T 8: 72,470,194 E140K probably damaging Het
Clpx A T 9: 65,324,270 T546S probably damaging Het
Csgalnact2 A G 6: 118,129,264 L31P probably damaging Het
Cxcr1 A T 1: 74,192,220 F214L probably benign Het
Cyp2c67 T A 19: 39,643,385 T123S possibly damaging Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Dzank1 G A 2: 144,490,174 T414I probably benign Het
Erich3 A G 3: 154,748,519 I641V probably benign Het
Gtf2e1 A T 16: 37,535,920 D83E possibly damaging Het
Hars2 T C 18: 36,789,357 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kcnh2 T C 5: 24,324,966 D372G probably damaging Het
Kcnk2 A T 1: 189,243,014 I264N probably damaging Het
Kctd4 A G 14: 75,963,228 D213G probably damaging Het
Lhx9 T C 1: 138,828,680 T323A possibly damaging Het
Lilra6 C A 7: 3,911,404 probably benign Het
Meig1 T C 2: 3,409,274 D63G probably damaging Het
Mov10l1 A G 15: 88,994,989 Y184C probably damaging Het
Mup11 C T 4: 60,659,550 R175H probably benign Het
Nbea T C 3: 56,005,472 K965E possibly damaging Het
Olfr598 C A 7: 103,329,321 H278Q probably damaging Het
Papss1 G A 3: 131,599,949 E252K probably benign Het
Robo2 A T 16: 74,015,972 L278Q probably damaging Het
Sned1 A T 1: 93,274,403 I638F probably damaging Het
Spin1 T C 13: 51,144,541 probably null Het
Taar9 T C 10: 24,109,531 T2A probably benign Het
Tbc1d8b T C X: 139,725,880 probably null Het
Other mutations in Mrpl24
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1466:Mrpl24 UTSW 3 87921928 nonsense probably null
R1466:Mrpl24 UTSW 3 87921928 nonsense probably null
R1467:Mrpl24 UTSW 3 87922437 missense probably benign 0.00
R1467:Mrpl24 UTSW 3 87922437 missense probably benign 0.00
R2070:Mrpl24 UTSW 3 87923067 critical splice donor site probably null
R2071:Mrpl24 UTSW 3 87923067 critical splice donor site probably null
R4537:Mrpl24 UTSW 3 87922412 missense probably benign 0.30
R4628:Mrpl24 UTSW 3 87922129 splice site probably null
R4785:Mrpl24 UTSW 3 87922050 critical splice donor site probably null
R5841:Mrpl24 UTSW 3 87922985 missense probably damaging 1.00
R6007:Mrpl24 UTSW 3 87922398 missense probably benign 0.02
R7513:Mrpl24 UTSW 3 87922427 missense probably benign 0.07
X0064:Mrpl24 UTSW 3 87922428 missense probably benign 0.03
Posted On2013-04-17