Incidental Mutation 'R8903:Rpl23a'
ID 678321
Institutional Source Beutler Lab
Gene Symbol Rpl23a
Ensembl Gene ENSMUSG00000058546
Gene Name ribosomal protein L23A
Synonyms MDA20
MMRRC Submission 068760-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8903 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 78071761-78074410 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78073720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 40 (I40V)
Ref Sequence ENSEMBL: ENSMUSP00000099541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092880] [ENSMUST00000098545] [ENSMUST00000102483] [ENSMUST00000108338] [ENSMUST00000127587] [ENSMUST00000147819]
AlphaFold P62751
Predicted Effect probably benign
Transcript: ENSMUST00000092880
SMART Domains Protein: ENSMUSP00000090556
Gene: ENSMUSG00000019437

DomainStartEndE-ValueType
TLC 28 217 1.19e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098545
SMART Domains Protein: ENSMUSP00000096145
Gene: ENSMUSG00000019437

DomainStartEndE-ValueType
TLC 40 207 5.98e-33 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102483
AA Change: I40V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099541
Gene: ENSMUSG00000058546
AA Change: I40V

DomainStartEndE-ValueType
Pfam:Ribosomal_L23eN 15 68 9.7e-26 PFAM
Pfam:Ribosomal_L23 74 153 1.8e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108338
SMART Domains Protein: ENSMUSP00000103975
Gene: ENSMUSG00000019437

DomainStartEndE-ValueType
Pfam:TRAM_LAG1_CLN8 44 122 3.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127587
SMART Domains Protein: ENSMUSP00000114202
Gene: ENSMUSG00000019437

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
TLC 40 234 1.41e-52 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147819
SMART Domains Protein: ENSMUSP00000126593
Gene: ENSMUSG00000019437

DomainStartEndE-ValueType
Pfam:TRAM_LAG1_CLN8 33 103 4.1e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 97% (74/76)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,815,526 (GRCm39) F258S probably damaging Het
Abca3 A G 17: 24,602,959 (GRCm39) Y518C probably damaging Het
Ank2 A T 3: 126,840,431 (GRCm39) N274K probably damaging Het
Ankrd31 C T 13: 96,969,329 (GRCm39) L989F probably damaging Het
Ano6 A G 15: 95,825,463 (GRCm39) R354G probably benign Het
Ano8 T C 8: 71,934,834 (GRCm39) probably null Het
Arfgef1 T C 1: 10,211,838 (GRCm39) Y1735C probably damaging Het
B3gnt8 G A 7: 25,328,659 (GRCm39) G363D probably benign Het
Calcrl T C 2: 84,203,729 (GRCm39) probably null Het
Cc2d2b A T 19: 40,797,726 (GRCm39) D782V unknown Het
Ccdc162 A G 10: 41,531,440 (GRCm39) probably null Het
Cdkal1 A T 13: 29,809,918 (GRCm39) *219R probably null Het
Clcnkb A T 4: 141,135,160 (GRCm39) V526D possibly damaging Het
Cnbp A T 6: 87,821,074 (GRCm39) C162S probably damaging Het
Coq2 A G 5: 100,811,656 (GRCm39) probably benign Het
D6Wsu163e T A 6: 126,931,778 (GRCm39) L270Q probably damaging Het
Dennd10 C T 19: 60,823,423 (GRCm39) Q353* probably null Het
Dnhd1 C T 7: 105,362,855 (GRCm39) Q3806* probably null Het
Eepd1 T C 9: 25,394,518 (GRCm39) F261L probably benign Het
Fes C T 7: 80,036,559 (GRCm39) probably benign Het
Fsip2 T A 2: 82,807,681 (GRCm39) D1333E possibly damaging Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gm5113 T C 7: 29,878,292 (GRCm39) F127L probably benign Het
Grk3 A G 5: 113,066,697 (GRCm39) S596P possibly damaging Het
Gsk3a A G 7: 24,936,814 (GRCm39) V91A possibly damaging Het
Gss T C 2: 155,420,279 (GRCm39) K141E probably damaging Het
Il1rl2 A T 1: 40,366,530 (GRCm39) probably null Het
Kcnmb1 A G 11: 33,914,825 (GRCm39) Y42C probably damaging Het
Krtap16-1 A T 11: 99,877,170 (GRCm39) I78N probably damaging Het
Lrp2 C T 2: 69,379,382 (GRCm39) S110N possibly damaging Het
Lrrfip1 T A 1: 91,012,781 (GRCm39) probably benign Het
Magel2 G T 7: 62,029,441 (GRCm39) A782S unknown Het
Map1b C A 13: 99,569,017 (GRCm39) E1235* probably null Het
Mcpt1 A C 14: 56,257,520 (GRCm39) H222P probably benign Het
Met T A 6: 17,549,137 (GRCm39) N996K probably benign Het
Mia C A 7: 26,880,230 (GRCm39) Q52H probably damaging Het
Mia T A 7: 26,880,231 (GRCm39) Q52L possibly damaging Het
Myh7 T A 14: 55,230,228 (GRCm39) K35* probably null Het
Myt1l T A 12: 29,861,468 (GRCm39) D83E unknown Het
Nbl1 A G 4: 138,810,861 (GRCm39) V111A probably damaging Het
Nid1 T A 13: 13,638,515 (GRCm39) V145D probably benign Het
Nif3l1 C T 1: 58,486,653 (GRCm39) probably benign Het
Npnt T C 3: 132,591,764 (GRCm39) Y500C probably damaging Het
Nubpl T A 12: 52,144,676 (GRCm39) probably null Het
Nxpe4 T A 9: 48,310,250 (GRCm39) D504E probably damaging Het
Obsl1 A G 1: 75,463,917 (GRCm39) V1696A possibly damaging Het
Or56a3 A T 7: 104,735,329 (GRCm39) R135S possibly damaging Het
Or8s2 A T 15: 98,276,475 (GRCm39) I172N probably damaging Het
P2rx1 A T 11: 72,900,821 (GRCm39) H224L probably benign Het
Pald1 A T 10: 61,182,815 (GRCm39) probably null Het
Pard6g C T 18: 80,160,411 (GRCm39) R175* probably null Het
Pisd A G 5: 32,895,755 (GRCm39) I271T probably benign Het
Prrt3 T C 6: 113,472,796 (GRCm39) S459G probably damaging Het
Psd3 A T 8: 68,165,945 (GRCm39) C328S unknown Het
Psme1 A G 14: 55,817,853 (GRCm39) E120G Het
Pum3 A T 19: 27,397,457 (GRCm39) M306K possibly damaging Het
Pxdn T C 12: 30,040,992 (GRCm39) F423L probably benign Het
Rac3 A G 11: 120,614,071 (GRCm39) D118G probably damaging Het
Rnf14 A G 18: 38,446,267 (GRCm39) K357E probably benign Het
Slc5a5 A T 8: 71,345,227 (GRCm39) S27T probably damaging Het
Slc7a14 A T 3: 31,277,595 (GRCm39) L670Q probably damaging Het
Snorc C T 1: 87,402,826 (GRCm39) T52I probably damaging Het
Sst T A 16: 23,708,499 (GRCm39) K111* probably null Het
Stxbp4 A G 11: 90,426,267 (GRCm39) S514P unknown Het
Susd1 T A 4: 59,390,576 (GRCm39) T300S probably benign Het
Tecpr1 C T 5: 144,150,845 (GRCm39) probably benign Het
Tmem185b C T 1: 119,454,198 (GRCm39) probably benign Het
Tor2a T A 2: 32,651,699 (GRCm39) F305I probably damaging Het
Ttk T A 9: 83,750,113 (GRCm39) D689E probably damaging Het
Tut4 A T 4: 108,336,408 (GRCm39) D44V probably damaging Het
Usp25 A G 16: 76,878,421 (GRCm39) D615G probably damaging Het
Vmn1r209 A G 13: 22,990,684 (GRCm39) V2A probably benign Het
Vmn2r80 A C 10: 79,017,928 (GRCm39) E551A probably damaging Het
Wac G T 18: 7,926,104 (GRCm39) E636* probably null Het
Wdr53 T A 16: 32,071,130 (GRCm39) D158E probably damaging Het
Zbtb7c T C 18: 76,270,152 (GRCm39) V80A probably damaging Het
Other mutations in Rpl23a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03033:Rpl23a APN 11 78,072,408 (GRCm39) missense possibly damaging 0.72
R7781:Rpl23a UTSW 11 78,073,654 (GRCm39) missense probably benign 0.04
R9057:Rpl23a UTSW 11 78,072,021 (GRCm39) missense probably benign 0.29
Predicted Primers PCR Primer
(F):5'- TTGGAACCAAGATAAGCAACATCTC -3'
(R):5'- ACCACTGATGCACATGCTGG -3'

Sequencing Primer
(F):5'- ACCAGCTCCTTCAACAATTGTG -3'
(R):5'- ATGCACATGCTGGCAGGAC -3'
Posted On 2021-08-02