Incidental Mutation 'IGL02350:Mrpl23'
ID 289761
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl23
Ensembl Gene ENSMUSG00000037772
Gene Name mitochondrial ribosomal protein L23
Synonyms L23mrp, Rpl23l
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # IGL02350
Quality Score
Status
Chromosome 7
Chromosomal Location 142086423-142094484 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 142089802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038675] [ENSMUST00000210662] [ENSMUST00000210803]
AlphaFold O35972
Predicted Effect probably benign
Transcript: ENSMUST00000038675
SMART Domains Protein: ENSMUSP00000039784
Gene: ENSMUSG00000037772

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 benign
Transcript: ENSMUST00000210662
Predicted Effect probably benign
Transcript: ENSMUST00000210803
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A G 8: 71,914,121 (GRCm39) V169A probably benign Het
Adamts16 T A 13: 70,886,704 (GRCm39) T1029S probably benign Het
Adgrv1 C A 13: 81,418,974 (GRCm39) C6007F probably benign Het
Ak8 A T 2: 28,590,225 (GRCm39) H8L probably benign Het
Apol7b A G 15: 77,307,832 (GRCm39) V221A probably benign Het
BC005624 G A 2: 30,863,779 (GRCm39) P235S probably benign Het
Cd96 A G 16: 45,890,139 (GRCm39) probably benign Het
Celf1 A T 2: 90,828,933 (GRCm39) K27I probably damaging Het
Cfap65 A T 1: 74,967,507 (GRCm39) C190* probably null Het
Cib2 A T 9: 54,457,170 (GRCm39) H31Q probably damaging Het
Cyp3a59 T C 5: 146,016,152 (GRCm39) L3P probably damaging Het
Dnajc13 T C 9: 104,039,558 (GRCm39) M2104V possibly damaging Het
Dph3b-ps A G 13: 106,683,453 (GRCm39) noncoding transcript Het
Emb A G 13: 117,386,007 (GRCm39) probably benign Het
Fbn2 G T 18: 58,237,067 (GRCm39) N645K possibly damaging Het
Fes T C 7: 80,033,578 (GRCm39) probably null Het
Flnc A T 6: 29,438,492 (GRCm39) K129* probably null Het
Gckr C A 5: 31,465,134 (GRCm39) H368N possibly damaging Het
Gm5145 A T 17: 20,790,702 (GRCm39) I27F probably damaging Het
Hecw1 A G 13: 14,422,923 (GRCm39) probably null Het
Hivep3 T G 4: 119,980,222 (GRCm39) C1753W probably damaging Het
Hook2 C T 8: 85,721,614 (GRCm39) Q291* probably null Het
Jakmip2 T C 18: 43,680,192 (GRCm39) T722A possibly damaging Het
Kcnt2 A G 1: 140,279,007 (GRCm39) I53V probably benign Het
Lipo2 A G 19: 33,708,348 (GRCm39) L222P possibly damaging Het
Mrc2 A G 11: 105,216,547 (GRCm39) D112G probably damaging Het
Mroh2b A G 15: 4,941,482 (GRCm39) N338S probably benign Het
Myo18a A G 11: 77,741,073 (GRCm39) N1442S probably benign Het
Ngdn T A 14: 55,259,393 (GRCm39) V179E probably damaging Het
Nxn A G 11: 76,165,480 (GRCm39) probably benign Het
Or10am5 T A 7: 6,518,225 (GRCm39) M68L probably damaging Het
Or2b7 A G 13: 21,739,772 (GRCm39) L140P probably damaging Het
Osmr A T 15: 6,858,144 (GRCm39) N441K probably benign Het
Plcb3 A C 19: 6,935,546 (GRCm39) L789R probably damaging Het
Plek C T 11: 16,931,846 (GRCm39) R335H probably damaging Het
Pmp22 G T 11: 63,049,134 (GRCm39) V126F probably benign Het
Prom1 A G 5: 44,186,946 (GRCm39) probably benign Het
Prss1 C A 6: 41,440,139 (GRCm39) Q159K probably damaging Het
Psd3 G T 8: 68,416,521 (GRCm39) H459N probably benign Het
Rusc2 T G 4: 43,425,351 (GRCm39) V1152G possibly damaging Het
Slc16a4 A G 3: 107,210,415 (GRCm39) I362V probably benign Het
Slc22a22 A G 15: 57,110,844 (GRCm39) V461A probably benign Het
Slc35e4 C T 11: 3,862,640 (GRCm39) R183Q probably benign Het
Spen T C 4: 141,204,890 (GRCm39) T1246A unknown Het
Syt16 T C 12: 74,313,616 (GRCm39) V514A probably benign Het
Tdpoz2 A G 3: 93,559,735 (GRCm39) V79A possibly damaging Het
Ttn A G 2: 76,539,963 (GRCm39) V34341A probably benign Het
Vxn T C 1: 9,683,544 (GRCm39) I44T possibly damaging Het
Wwox T C 8: 115,438,882 (GRCm39) V316A possibly damaging 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
IGL02357:Mrpl23 APN 7 142,089,802 (GRCm39) splice site probably benign
R0166:Mrpl23 UTSW 7 142,088,851 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16