Incidental Mutation 'IGL00953:Mrpl4'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl4
Ensembl Gene ENSMUSG00000003299
Gene Namemitochondrial ribosomal protein L4
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.961) question?
Stock #IGL00953
Quality Score
Chromosomal Location21002738-21008839 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 21008567 bp
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

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
R8808:Mrpl4 UTSW 9 21007682 missense possibly damaging 0.79
Posted On2015-04-16