Incidental Mutation 'R5420:Mrpl23'
ID 427985
Institutional Source Beutler Lab
Gene Symbol Mrpl23
Ensembl Gene ENSMUSG00000037772
Gene Name mitochondrial ribosomal protein L23
Synonyms L23mrp, Rpl23l
MMRRC Submission 042988-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R5420 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 142086423-142094484 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 142089874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 25 (T25A)
Ref Sequence ENSEMBL: ENSMUSP00000147311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038675] [ENSMUST00000210662] [ENSMUST00000210803]
AlphaFold O35972
Predicted Effect probably damaging
Transcript: ENSMUST00000038675
AA Change: T70A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039784
Gene: ENSMUSG00000037772
AA Change: T70A

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: T96A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000210803
AA Change: T25A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9308 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 97% (66/68)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 TGCGCAGC T 19: 4,915,372 (GRCm39) probably null Het
Adamts1 A T 16: 85,596,497 (GRCm39) C117* probably null Het
Adgrg6 A T 10: 14,302,730 (GRCm39) Y894* probably null Het
Alas1 G T 9: 106,111,358 (GRCm39) L603I probably benign Het
Arhgap21 G T 2: 20,885,897 (GRCm39) R427S probably damaging Het
Arhgef25 A T 10: 127,023,143 (GRCm39) V88D probably benign Het
Bdp1 T C 13: 100,202,551 (GRCm39) Q691R possibly damaging Het
Bpifa6 T A 2: 153,831,250 (GRCm39) I272N probably damaging Het
Cacybp T C 1: 160,035,914 (GRCm39) probably benign Het
Capn3 T C 2: 120,325,777 (GRCm39) probably benign Het
Ccdc47 C T 11: 106,101,176 (GRCm39) R162Q probably benign Het
Cideb A C 14: 55,995,748 (GRCm39) M1R probably null Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Crebbp C T 16: 3,925,322 (GRCm39) R760H probably damaging Het
Cyp2c23 A C 19: 44,004,103 (GRCm39) probably null Het
Cyp3a13 T G 5: 137,897,243 (GRCm39) D357A probably damaging Het
Dip2b C T 15: 100,103,054 (GRCm39) probably benign Het
Ecm2 A T 13: 49,681,210 (GRCm39) R448S possibly damaging Het
Edil3 T C 13: 89,279,891 (GRCm39) Y190H probably damaging Het
Eps8l1 T G 7: 4,473,160 (GRCm39) probably null Het
Eps8l3 A T 3: 107,791,301 (GRCm39) K280* probably null Het
Fam184a A G 10: 53,509,753 (GRCm39) F1137L probably damaging Het
Fmn2 A T 1: 174,526,344 (GRCm39) R1388* probably null Het
Glt8d2 T C 10: 82,488,516 (GRCm39) K318R probably benign Het
Herc2 A T 7: 55,853,578 (GRCm39) K3690I probably damaging Het
Ifi206 T A 1: 173,308,599 (GRCm39) I466F possibly damaging Het
Jade2 T C 11: 51,709,434 (GRCm39) K525R probably benign Het
Kmt2a A T 9: 44,759,633 (GRCm39) F772I probably damaging Het
Lipi A G 16: 75,352,757 (GRCm39) V360A possibly damaging Het
Mbl1 C T 14: 40,879,153 (GRCm39) S108L possibly damaging Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Mto1 T A 9: 78,360,109 (GRCm39) M199K probably benign Het
Nes A T 3: 87,884,309 (GRCm39) N812I probably damaging Het
Nfkbie T A 17: 45,871,132 (GRCm39) D261E probably benign Het
Or7e173 T C 9: 19,938,355 (GRCm39) Y293C probably damaging Het
Pakap G A 4: 57,856,062 (GRCm39) V505I probably benign Het
Pakap T A 4: 57,856,434 (GRCm39) Y588N probably damaging Het
Papola A G 12: 105,772,754 (GRCm39) I114V possibly damaging Het
Pappa T G 4: 65,254,017 (GRCm39) probably null Het
Pcdh7 T A 5: 57,877,529 (GRCm39) D361E probably damaging Het
Pick1 A G 15: 79,133,040 (GRCm39) T367A probably benign Het
Plbd2 A G 5: 120,632,547 (GRCm39) Y152H probably damaging Het
Ppfia2 A T 10: 106,671,562 (GRCm39) E424D possibly damaging Het
Rab7b C T 1: 131,626,164 (GRCm39) T64I probably damaging Het
Rarb T A 14: 16,434,249 (GRCm38) I310F possibly damaging Het
Rdh16f2 C T 10: 127,712,943 (GRCm39) P314S possibly damaging Het
Rpain A T 11: 70,868,516 (GRCm39) probably null Het
Rufy3 T C 5: 88,788,518 (GRCm39) *488Q probably null Het
Sash1 G A 10: 8,621,950 (GRCm39) T398I probably damaging Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scrn1 T A 6: 54,489,048 (GRCm39) I358F probably benign Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Thbs1 G T 2: 117,943,636 (GRCm39) D85Y possibly damaging Het
Thoc2l T A 5: 104,666,225 (GRCm39) I249N probably damaging Het
Trp53 T C 11: 69,479,146 (GRCm39) probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn1r223 A G 13: 23,433,675 (GRCm39) R90G probably benign Het
Zfp521 A T 18: 13,977,144 (GRCm39) Y1090N probably damaging Het
Zfp677 T C 17: 21,618,175 (GRCm39) C411R probably 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
IGL02350:Mrpl23 APN 7 142,089,802 (GRCm39) splice site probably benign
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
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'- CATCCTTTTGTCTGGAGGGGAC -3'
(R):5'- TCACAGCTAGAAGTGTTGGGG -3'

Sequencing Primer
(F):5'- TTGTCTGGAGGGGACAACACTG -3'
(R):5'- GGGACCTTCAATGAGCTACATAG -3'
Posted On 2016-09-01