Incidental Mutation 'R1449:Mrpl4'
ID 159136
Institutional Source Beutler Lab
Gene Symbol Mrpl4
Ensembl Gene ENSMUSG00000003299
Gene Name mitochondrial ribosomal protein L4
Synonyms 1110017G11Rik
MMRRC Submission 039504-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.961) question?
Stock # R1449 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 21002738-21008839 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21007511 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 175 (K175E)
Ref Sequence ENSEMBL: ENSMUSP00000003386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003386] [ENSMUST00000214124] [ENSMUST00000216175] [ENSMUST00000216824]
AlphaFold Q9DCU6
Predicted Effect possibly damaging
Transcript: ENSMUST00000003386
AA Change: K175E

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000003386
Gene: ENSMUSG00000003299
AA Change: K175E

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 possibly damaging
Transcript: ENSMUST00000214124
AA Change: K181E

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000216175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216325
Predicted Effect probably benign
Transcript: ENSMUST00000216466
Predicted Effect unknown
Transcript: ENSMUST00000216818
AA Change: K182E
Predicted Effect probably benign
Transcript: ENSMUST00000216824
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.4%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A G 4: 137,455,355 N274D possibly damaging Het
6430571L13Rik T A 9: 107,342,490 N47K probably damaging Het
Aasdh C T 5: 76,886,289 A472T probably benign Het
Abca13 A G 11: 9,298,580 T2776A probably damaging Het
Adamts10 T A 17: 33,545,639 V711D probably damaging Het
Adrb3 G A 8: 27,227,387 R345C probably damaging Het
Ak7 T C 12: 105,742,261 V325A possibly damaging Het
Armc6 G A 8: 70,225,293 L129F probably benign Het
Bend6 T C 1: 33,878,343 N10S probably benign Het
Bmpr1b T C 3: 141,871,373 E59G possibly damaging Het
Brd3 A G 2: 27,450,251 probably null Het
Brd3 A G 2: 27,457,016 Y369H probably damaging Het
Cacna1e C T 1: 154,485,662 probably null Het
Camk4 A G 18: 32,939,475 D27G probably damaging Het
Camkk1 T G 11: 73,033,884 S308A probably damaging Het
Catsperb A G 12: 101,588,197 T717A probably benign Het
Cdh23 A T 10: 60,376,951 S1563R probably damaging Het
Cep44 A T 8: 56,540,950 S197R probably benign Het
Col3a1 T A 1: 45,321,611 I67N unknown Het
Dcaf12l1 T C X: 44,789,427 T165A probably benign Het
Dicer1 T C 12: 104,729,243 Y143C possibly damaging Het
Dlg5 A G 14: 24,135,643 I1898T possibly damaging Het
Dnah1 T C 14: 31,263,951 N3762D probably damaging Het
Dscaml1 A T 9: 45,742,223 T1382S possibly damaging Het
Entpd3 A T 9: 120,566,489 R513W probably damaging Het
Foxred1 A G 9: 35,209,442 S132P probably damaging Het
Ftsj3 T C 11: 106,253,000 I273V probably benign Het
Hsd17b7 C T 1: 169,959,682 probably null Het
Iars T A 13: 49,733,710 V1253D probably damaging Het
Iqsec1 T A 6: 90,690,808 K216* probably null Het
Itga7 A G 10: 128,953,501 D971G probably benign Het
Kcnk2 G A 1: 189,340,026 S35L probably benign Het
Kif13a T C 13: 46,812,736 Y402C probably damaging Het
Lamc1 A G 1: 153,250,495 S484P probably benign Het
Lap3 T C 5: 45,509,519 probably null Het
Lhx8 G T 3: 154,328,105 S46* probably null Het
Lin7a T C 10: 107,323,952 S42P probably damaging Het
Lrba G A 3: 86,354,278 R1513Q probably damaging Het
Maml2 C A 9: 13,620,684 P398Q possibly damaging Het
Mast2 T C 4: 116,309,013 I1201V probably damaging Het
Mmp20 A T 9: 7,642,768 D201V probably damaging Het
Morn5 T A 2: 36,057,080 C123* probably null Het
Nav3 A T 10: 109,853,511 S302T probably benign Het
Ndrg2 T C 14: 51,908,134 Y217C probably damaging Het
Nfx1 A G 4: 40,976,803 D159G probably damaging Het
Nlrp9b A T 7: 20,023,164 T109S possibly damaging Het
Npepps A G 11: 97,207,154 Y909H probably benign Het
Olfr1510 A G 14: 52,410,567 C102R probably damaging Het
Olfr559 A T 7: 102,724,190 F100Y probably damaging Het
Olfr740 A G 14: 50,453,921 N290D probably damaging Het
Olfr801 T A 10: 129,670,369 D50V probably damaging Het
Olfr810 A C 10: 129,790,854 V245G probably damaging Het
Pcdh1 T C 18: 38,189,876 H968R probably damaging Het
Pde1b T A 15: 103,525,043 I296N probably damaging Het
Phldb1 T A 9: 44,716,633 T172S probably benign Het
Plxdc2 T C 2: 16,660,781 V215A possibly damaging Het
Poln A G 5: 34,014,338 I695T probably damaging Het
Pou6f2 G T 13: 18,172,415 Q31K probably damaging Het
Psd T A 19: 46,324,811 Y40F probably damaging Het
Rnf126 T C 10: 79,761,614 N155D probably benign Het
Rpl36-ps3 C A 12: 12,912,031 noncoding transcript Het
Rrp15 C A 1: 186,736,268 V184F possibly damaging Het
Rslcan18 G T 13: 67,102,100 L24M possibly damaging Het
Sall1 A G 8: 89,032,483 I331T probably benign Het
Slamf7 A T 1: 171,641,038 N95K possibly damaging Het
Slc1a6 T C 10: 78,800,117 Y339H probably damaging Het
Slc39a8 A G 3: 135,826,685 N72D probably benign Het
Slf1 A G 13: 77,083,449 S604P probably damaging Het
Slfn4 C T 11: 83,188,993 T110M probably benign Het
Tnpo1 T C 13: 98,878,712 T116A probably damaging Het
Tor1b T C 2: 30,955,881 I190T probably damaging Het
Ttn C A 2: 76,969,794 E357* probably null Het
Tubg2 G T 11: 101,156,873 E95* probably null Het
Ubap2 A G 4: 41,209,351 probably null Het
Ube2i T C 17: 25,268,564 D67G possibly damaging Het
Ubxn11 A G 4: 134,124,892 E50G probably damaging Het
Wnk1 A G 6: 119,952,818 V1246A probably damaging Het
Zcchc7 A G 4: 44,929,124 T38A possibly damaging Het
Zfp236 A G 18: 82,646,005 S552P probably damaging Het
Other mutations in Mrpl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Mrpl4 APN 9 21008567 missense probably benign
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-03-14