Incidental Mutation 'R0166:Mrpl23'
ID 24174
Institutional Source Beutler Lab
Gene Symbol Mrpl23
Ensembl Gene ENSMUSG00000037772
Gene Name mitochondrial ribosomal protein L23
Synonyms L23mrp, Rpl23l
MMRRC Submission 038442-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R0166 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 7
Chromosomal Location 142086423-142094484 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 142088851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 69 (R69W)
Ref Sequence ENSEMBL: ENSMUSP00000148138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038675] [ENSMUST00000210662] [ENSMUST00000210803]
AlphaFold O35972
Predicted Effect probably damaging
Transcript: ENSMUST00000038675
AA Change: R43W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039784
Gene: ENSMUSG00000037772
AA Change: R43W

DomainStartEndE-ValueType
Pfam:Ribosomal_L23 29 107 1.3e-15 PFAM
low complexity region 116 133 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137345
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141098
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209576
Predicted Effect probably damaging
Transcript: ENSMUST00000210662
AA Change: R69W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000210803
Meta Mutation Damage Score 0.2779 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 91% (49/54)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,903,468 (GRCm39) F1040L probably damaging Het
Adamts7 A G 9: 90,075,745 (GRCm39) N1201S probably benign Het
Ahnak C T 19: 8,983,089 (GRCm39) P1458S probably damaging Het
Akap6 T C 12: 53,187,707 (GRCm39) V1707A probably benign Het
Akr1c21 T A 13: 4,631,263 (GRCm39) V266E probably damaging Het
Arap2 A C 5: 62,833,361 (GRCm39) C894G probably damaging Het
Atp2a2 T C 5: 122,604,901 (GRCm39) D426G possibly damaging Het
Azi2 A T 9: 117,884,909 (GRCm39) Q132L possibly damaging Het
Carmil1 C T 13: 24,283,032 (GRCm39) D91N probably damaging Het
Cnot7 A T 8: 40,960,494 (GRCm39) probably null Het
Cntnap5b A G 1: 100,202,086 (GRCm39) E311G probably benign Het
Csmd1 A G 8: 16,283,036 (GRCm39) V640A probably benign Het
Cst7 T C 2: 150,417,647 (GRCm39) S31P probably benign Het
Cyp7b1 T A 3: 18,151,530 (GRCm39) I228L probably benign Het
Ddx28 G A 8: 106,736,921 (GRCm39) T379I probably benign Het
Drd1 T A 13: 54,207,600 (GRCm39) I205F probably damaging Het
Flnb T A 14: 7,896,115 (GRCm38) V837D probably damaging Het
Fsd1l A G 4: 53,647,664 (GRCm39) probably null Het
Fubp1 T A 3: 151,925,841 (GRCm39) Y264* probably null Het
Gbp5 T A 3: 142,212,680 (GRCm39) probably null Het
Gm7094 A G 1: 21,342,958 (GRCm39) noncoding transcript Het
Gpr55 A G 1: 85,868,858 (GRCm39) V241A probably benign Het
Impa1 C T 3: 10,394,020 (GRCm39) A16T probably damaging Het
Llgl2 T C 11: 115,735,680 (GRCm39) L92P probably damaging Het
Ltbp2 T A 12: 84,833,132 (GRCm39) Q1472L probably benign Het
Lyplal1 A T 1: 185,820,943 (GRCm39) M168K probably benign Het
Macc1 A T 12: 119,410,815 (GRCm39) R528* probably null Het
Mdm1 T A 10: 118,002,585 (GRCm39) D635E probably damaging Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nr0b2 A G 4: 133,281,049 (GRCm39) Q105R probably damaging Het
Or8b53 T A 9: 38,667,484 (GRCm39) S167T probably benign Het
Otog G A 7: 45,953,655 (GRCm39) V2638M probably damaging Het
Pcdhb14 A T 18: 37,581,542 (GRCm39) probably null Het
Plxna1 A G 6: 89,310,001 (GRCm39) W1055R probably damaging Het
Pramel22 T A 4: 143,381,081 (GRCm39) H314L probably benign Het
Prdm1 C T 10: 44,316,087 (GRCm39) R716Q probably damaging Het
Proser1 C A 3: 53,388,038 (GRCm39) Q909K possibly damaging Het
Pus10 T A 11: 23,617,358 (GRCm39) C24S probably damaging Het
Rpl27 T A 11: 101,336,146 (GRCm39) F69I possibly damaging Het
Sctr A T 1: 119,983,124 (GRCm39) I325F probably damaging Het
Slc49a4 G A 16: 35,539,684 (GRCm39) T379I possibly damaging Het
Slc5a3 G A 16: 91,874,581 (GRCm39) V213I possibly damaging Het
Spib G T 7: 44,179,324 (GRCm39) D28E probably damaging Het
Spic T C 10: 88,511,579 (GRCm39) S226G possibly damaging Het
Tet1 T A 10: 62,676,058 (GRCm39) T673S probably benign Het
Tph1 A G 7: 46,297,020 (GRCm39) F392L probably damaging Het
Ttc28 T C 5: 111,373,500 (GRCm39) S979P probably benign Het
Unc79 T C 12: 103,122,812 (GRCm39) L2110P probably damaging Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Zfp467 T C 6: 48,415,615 (GRCm39) T346A probably benign Het
Other mutations in Mrpl23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01780:Mrpl23 APN 7 142,089,802 (GRCm39) splice site probably benign
IGL02061:Mrpl23 APN 7 142,094,319 (GRCm39) missense probably benign 0.00
IGL02350:Mrpl23 APN 7 142,089,802 (GRCm39) splice site probably benign
IGL02357:Mrpl23 APN 7 142,089,802 (GRCm39) splice site probably benign
R5420:Mrpl23 UTSW 7 142,089,874 (GRCm39) missense probably damaging 1.00
R6569:Mrpl23 UTSW 7 142,088,776 (GRCm39) missense probably damaging 1.00
R7477:Mrpl23 UTSW 7 142,091,018 (GRCm39) missense possibly damaging 0.95
R9500:Mrpl23 UTSW 7 142,089,859 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTAGTGTCAGTAGCCCTGGAACC -3'
(R):5'- TGCCTGAAGCTCTGCAAACACC -3'

Sequencing Primer
(F):5'- GACAGGTCCTATGTGTAACTGTCC -3'
(R):5'- TCTGCAAACACCAGGCCC -3'
Posted On 2013-04-16