Incidental Mutation 'IGL00953:Mrpl4'
ID278111
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl4
Ensembl Gene ENSMUSG00000003299
Gene Namemitochondrial ribosomal protein L4
Synonyms1110017G11Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.961) question?
Stock #IGL00953
Quality Score
Status
Chromosome9
Chromosomal Location21002738-21008839 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 21008567 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 271 (D271E)
Ref Sequence ENSEMBL: ENSMUSP00000003386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003386] [ENSMUST00000214124] [ENSMUST00000216175] [ENSMUST00000216824]
Predicted Effect probably benign
Transcript: ENSMUST00000003386
AA Change: D271E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003386
Gene: ENSMUSG00000003299
AA Change: D271E

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Pfam:Ribosomal_L4 80 272 1.4e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213977
Predicted Effect probably benign
Transcript: ENSMUST00000214124
Predicted Effect probably benign
Transcript: ENSMUST00000216175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216325
Predicted Effect probably benign
Transcript: ENSMUST00000216466
Predicted Effect probably benign
Transcript: ENSMUST00000216818
Predicted Effect probably benign
Transcript: ENSMUST00000216824
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. Sequence analysis identified alternatively spliced variants that encode different protein isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 120,011,221 E726G probably benign Het
Cdyl2 T A 8: 116,595,189 probably benign Het
Cep41 T C 6: 30,660,967 T109A probably benign Het
Clca3b C T 3: 144,847,211 W84* probably null Het
Cyp27b1 A G 10: 127,049,682 D130G probably benign Het
Cyp2f2 T C 7: 27,129,817 V249A possibly damaging Het
Cyth3 G A 5: 143,707,165 probably null Het
Dnah8 G T 17: 30,706,457 E1289* probably null Het
Fam171a1 A T 2: 3,178,290 D51V possibly damaging Het
Farp2 A G 1: 93,561,174 R107G possibly damaging Het
Gemin6 T C 17: 80,227,865 F85L possibly damaging Het
Hivep3 A C 4: 120,098,374 T1296P probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Htt T A 5: 34,818,677 S670T probably benign Het
Klhl24 A T 16: 20,122,967 N555I possibly damaging Het
Limd1 T A 9: 123,479,883 S216T probably benign Het
Lmf2 A T 15: 89,353,899 I234N probably damaging Het
Mydgf C T 17: 56,179,407 G75R probably damaging Het
Nat1 A G 8: 67,490,978 D5G possibly damaging Het
Olfr178 A C 16: 58,889,685 H178Q probably damaging Het
Olfr190 A T 16: 59,074,689 Y130* probably null Het
Olfr325 T C 11: 58,581,810 V322A probably benign Het
Pla2g4c T A 7: 13,344,026 M363K probably benign Het
Prex1 A G 2: 166,638,409 F137S probably damaging Het
Rbm12b1 A G 4: 12,146,038 D670G probably damaging Het
Rrp12 C A 19: 41,871,792 M997I possibly damaging Het
Scn3a A G 2: 65,497,392 V918A probably benign Het
Slc35g2 A G 9: 100,552,463 V385A probably damaging Het
Slit1 A T 19: 41,602,300 I1311N probably damaging Het
Ube2j2 C T 4: 155,946,377 probably benign Het
Ucp2 A G 7: 100,498,422 T203A probably benign Het
Upk1b C T 16: 38,779,985 G211D possibly damaging Het
Vmn1r220 A T 13: 23,183,765 F254I probably benign Het
Zcchc4 T C 5: 52,808,296 F314S probably damaging Het
Other mutations in Mrpl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Mrpl4 APN 9 21003331 missense probably damaging 1.00
IGL02991:Mrpl4 UTSW 9 21008605 missense probably damaging 1.00
R0051:Mrpl4 UTSW 9 21007668 missense probably damaging 0.98
R0138:Mrpl4 UTSW 9 21008592 missense probably benign 0.06
R0266:Mrpl4 UTSW 9 21003314 missense probably benign 0.43
R1449:Mrpl4 UTSW 9 21007511 missense possibly damaging 0.89
R1855:Mrpl4 UTSW 9 21003371 missense possibly damaging 0.95
R1899:Mrpl4 UTSW 9 21006831 missense probably damaging 1.00
R4260:Mrpl4 UTSW 9 21007692 missense possibly damaging 0.76
R4406:Mrpl4 UTSW 9 21006935 missense probably damaging 1.00
R4622:Mrpl4 UTSW 9 21007497 missense probably damaging 0.99
R6359:Mrpl4 UTSW 9 21007734 missense probably damaging 1.00
R7201:Mrpl4 UTSW 9 21007338 missense probably benign 0.03
R7476:Mrpl4 UTSW 9 21002771 unclassified probably benign
R7529:Mrpl4 UTSW 9 21007679 missense probably benign 0.01
Posted On2015-04-16