Incidental Mutation 'R5925:9130230L23Rik'
ID 461784
Institutional Source Beutler Lab
Gene Symbol 9130230L23Rik
Ensembl Gene ENSMUSG00000054598
Gene Name RIKEN cDNA 9130230L23 gene
Synonyms
MMRRC Submission 044120-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R5925 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 66145271-66161628 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 66147735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 16 (W16*)
Ref Sequence ENSEMBL: ENSMUSP00000143918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165250] [ENSMUST00000201351]
AlphaFold Q8CC80
Predicted Effect probably null
Transcript: ENSMUST00000165250
AA Change: W16*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175329
Predicted Effect probably null
Transcript: ENSMUST00000201351
AA Change: W16*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201562
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202278
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202773
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 91.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,948,049 (GRCm39) D985G probably damaging Het
Afp T A 5: 90,645,147 (GRCm39) C188S probably damaging Het
Ank2 A C 3: 126,726,612 (GRCm39) L894R probably benign Het
Antxr1 A G 6: 87,289,344 (GRCm39) I60T probably damaging Het
Bltp2 T C 11: 78,175,064 (GRCm39) V1733A probably benign Het
Ccdc187 A G 2: 26,183,593 (GRCm39) S136P probably benign Het
Cep95 T C 11: 106,703,227 (GRCm39) S393P probably benign Het
Cyfip2 T C 11: 46,098,263 (GRCm39) Y1053C probably damaging Het
Diaph1 A G 18: 38,024,988 (GRCm39) V491A unknown Het
Dync2i1 A T 12: 116,197,014 (GRCm39) F448I possibly damaging Het
Ehf T C 2: 103,097,338 (GRCm39) probably null Het
Eif2b5 C T 16: 20,326,874 (GRCm39) H99Y probably benign Het
Exosc10 C A 4: 148,657,819 (GRCm39) T655K probably benign Het
Flg A T 3: 93,186,706 (GRCm39) I53F probably damaging Het
Hc T A 2: 34,920,462 (GRCm39) D628V possibly damaging Het
Lmo4 A T 3: 143,900,252 (GRCm39) N83K probably benign Het
Lrp4 A T 2: 91,342,029 (GRCm39) T1881S probably benign Het
Malt1 T A 18: 65,564,439 (GRCm39) L66Q possibly damaging Het
Map3k3 T C 11: 106,040,376 (GRCm39) S314P probably benign Het
Mpzl3 G T 9: 44,973,412 (GRCm39) K50N probably damaging Het
Nbeal2 G T 9: 110,458,948 (GRCm39) Q1992K probably benign Het
Nlrp14 T A 7: 106,785,860 (GRCm39) N645K probably benign Het
Or2g1 T C 17: 38,106,482 (GRCm39) I49T probably benign Het
Or6c76b A G 10: 129,692,744 (GRCm39) D119G probably damaging Het
Pcdha1 T A 18: 37,063,724 (GRCm39) D129E probably damaging Het
Prb1a A G 6: 132,187,475 (GRCm39) L2P unknown Het
Rhbdf1 A G 11: 32,162,906 (GRCm39) Y454H probably benign Het
Satb2 C T 1: 56,836,097 (GRCm39) A565T possibly damaging Het
Sh3pxd2a A T 19: 47,256,051 (GRCm39) L889Q probably damaging Het
Sis T C 3: 72,828,713 (GRCm39) probably null Het
Slc35e2 T C 4: 155,696,084 (GRCm39) V157A probably damaging Het
Slc35f3 T C 8: 127,115,946 (GRCm39) V291A probably benign Het
Snph T C 2: 151,436,151 (GRCm39) D190G probably damaging Het
Tpd52l1 T C 10: 31,208,943 (GRCm39) H170R probably benign Het
Trav18 A G 14: 54,069,152 (GRCm39) T65A probably benign Het
Trip12 G A 1: 84,726,974 (GRCm39) Q9* probably null Het
Ttn C T 2: 76,632,592 (GRCm39) C12408Y probably damaging Het
Ttn T C 2: 76,639,355 (GRCm39) D13806G probably damaging Het
Unc79 G C 12: 103,091,989 (GRCm39) probably null Het
Vmn2r81 T C 10: 79,083,637 (GRCm39) S4P probably damaging Het
Zfp37 G A 4: 62,109,450 (GRCm39) T576I possibly damaging Het
Zfp39 A T 11: 58,782,099 (GRCm39) L221Q possibly damaging Het
Zgrf1 A G 3: 127,366,853 (GRCm39) H744R possibly damaging Het
Other mutations in 9130230L23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00650:9130230L23Rik APN 5 66,147,187 (GRCm39) missense unknown
IGL02186:9130230L23Rik APN 5 66,145,811 (GRCm39) missense unknown
R0400:9130230L23Rik UTSW 5 66,147,699 (GRCm39) missense unknown
R1078:9130230L23Rik UTSW 5 66,145,698 (GRCm39) missense unknown
R1188:9130230L23Rik UTSW 5 66,147,741 (GRCm39) missense unknown
R1867:9130230L23Rik UTSW 5 66,157,560 (GRCm39) start codon destroyed probably null
R1868:9130230L23Rik UTSW 5 66,157,560 (GRCm39) start codon destroyed probably null
R5903:9130230L23Rik UTSW 5 66,145,661 (GRCm39) missense unknown
R7318:9130230L23Rik UTSW 5 66,145,771 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GGCTGACCACATTGGGAAAG -3'
(R):5'- GTGTGCCATTTCAAAGCCC -3'

Sequencing Primer
(F):5'- CCACATTGGGAAAGAGGCAAAC -3'
(R):5'- AAAGCCCCCTTCAACCTTTGTTAAG -3'
Posted On 2017-02-28