Incidental Mutation 'RF060:A030005L19Rik'
ID 605365
Institutional Source Beutler Lab
Gene Symbol A030005L19Rik
Ensembl Gene ENSMUSG00000113880
Gene Name RIKEN cDNA A030005L19 gene
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # RF060 (G1)
Quality Score 117.723
Status Not validated
Chromosome 1
Chromosomal Location 82891046-82891851 bp(+) (GRCm39)
Type of Mutation small deletion (8 aa in frame mutation)
DNA Base Change (assembly) TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG to TGGCTGTGGCTGTGG at 82891117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000220768]
AlphaFold A0A1Y7VIU2
Predicted Effect probably benign
Transcript: ENSMUST00000220768
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 G GTGGCGC 18: 36,693,975 (GRCm39) probably benign Het
Cacna1f GAG GAGCAG X: 7,486,299 (GRCm39) probably benign Het
Cd109 ATTTATTTAT ATTTATTTATTTCTTTATTTAT 9: 78,619,807 (GRCm39) probably benign Het
Chd4 CC CCACTGGC 6: 125,099,108 (GRCm39) probably benign Het
Chga GCA GCATCA 12: 102,527,683 (GRCm39) probably benign Het
Cyb5r4 ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA ACTGCCCAGGGATCTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA 9: 86,922,466 (GRCm39) probably benign Het
Dnmt1 CGTT CGTTGTGGGGGAGGAGCACAGTTCCTACCTAGTT 9: 20,821,438 (GRCm39) probably null Het
Fam171b GC GCCGCAAC 2: 83,643,221 (GRCm39) probably benign Het
Fkbp1a GCCGCCGCCA G 2: 151,384,619 (GRCm39) probably null Het
Gab3 TTC TTCCTC X: 74,043,619 (GRCm39) probably benign Het
Garin5a GTCTGAGGGAGGA GTCTGAGGGAGGAAGGCTGGATCCTGGATACCTGGTTCTGAGGGAGGA 7: 44,149,949 (GRCm39) probably null Het
Garin5a GAGGA GAGGAAGGCTGGATCCTGGATACCTGGGTCTGAGGTAGGA 7: 44,149,957 (GRCm39) probably null Het
Hsdl2 AAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC AAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC 4: 59,610,608 (GRCm39) probably benign Het
Klra10 TGTAGT TGT 6: 130,252,784 (GRCm39) probably benign Het
L1td1 GAGGAGGAGGAGGAGGAGGGGGAGGAGGAGAAGGAGGA GAGGAGGA 4: 98,625,031 (GRCm39) probably benign Het
Mamld1 AGC AGCCGC X: 70,162,438 (GRCm39) probably benign Het
Mamld1 CAG CAGTAG X: 70,162,437 (GRCm39) probably null Het
Map1a A AGCTCCAGCTCCAGCTCCAGCTCCAGCTCCC 2: 121,136,799 (GRCm39) probably benign Het
Nefh GACTTGGCC GACTTGGCCCCACCTGGGTACTTGGCC 11: 4,891,050 (GRCm39) probably benign Het
Nefh CT CTGGGCTTCACCTGGGGATT 11: 4,891,052 (GRCm39) probably benign Het
Pdk1 CTGGCCT C 2: 71,703,789 (GRCm39) probably benign Het
Pou3f1 GC GCGGCGCC 4: 124,551,602 (GRCm39) probably benign Het
Rfx4 T TCTCTCTCTCTCTCTCC 10: 84,694,358 (GRCm39) probably benign Het
Spaca1 CTCGCT CTCGCTGTCGCT 4: 34,049,841 (GRCm39) probably benign Het
Spmap2l CAG CAGCGATCCTCCCCAGTCCCGCAAGGCAAG 5: 77,164,274 (GRCm39) probably benign Het
St3gal5 G GCACTC 6: 72,074,836 (GRCm39) probably null Het
Stat1 G T 1: 52,191,419 (GRCm39) E591D probably benign Het
Tcof1 CAG CAGTAG 18: 60,968,816 (GRCm39) probably benign Het
Tcof1 C CAGT 18: 60,968,819 (GRCm39) probably benign Het
Tfeb GCA GCACCA 17: 48,097,031 (GRCm39) probably benign Het
Tmem59 TTTGTTT TTTGTTTGCTTGTTT 4: 107,047,723 (GRCm39) probably benign Het
Zfhx3 G GAAACAGCAA 8: 109,682,720 (GRCm39) probably benign Het
Other mutations in A030005L19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
RF001:A030005L19Rik UTSW 1 82,891,311 (GRCm39) small insertion probably benign
RF005:A030005L19Rik UTSW 1 82,891,306 (GRCm39) small insertion probably benign
RF011:A030005L19Rik UTSW 1 82,891,307 (GRCm39) small insertion probably benign
RF011:A030005L19Rik UTSW 1 82,891,294 (GRCm39) small insertion probably benign
RF011:A030005L19Rik UTSW 1 82,891,290 (GRCm39) small insertion probably benign
RF016:A030005L19Rik UTSW 1 82,891,298 (GRCm39) small insertion probably benign
RF018:A030005L19Rik UTSW 1 82,891,293 (GRCm39) small insertion probably benign
RF021:A030005L19Rik UTSW 1 82,891,290 (GRCm39) small insertion probably benign
RF023:A030005L19Rik UTSW 1 82,891,117 (GRCm39) small deletion probably benign
RF028:A030005L19Rik UTSW 1 82,891,301 (GRCm39) small insertion probably benign
RF028:A030005L19Rik UTSW 1 82,891,299 (GRCm39) small insertion probably benign
RF034:A030005L19Rik UTSW 1 82,891,301 (GRCm39) small insertion probably benign
RF035:A030005L19Rik UTSW 1 82,891,310 (GRCm39) small insertion probably benign
RF038:A030005L19Rik UTSW 1 82,891,301 (GRCm39) small insertion probably benign
RF040:A030005L19Rik UTSW 1 82,891,311 (GRCm39) small insertion probably benign
RF040:A030005L19Rik UTSW 1 82,891,298 (GRCm39) small insertion probably benign
RF042:A030005L19Rik UTSW 1 82,891,305 (GRCm39) small insertion probably benign
RF044:A030005L19Rik UTSW 1 82,891,310 (GRCm39) small insertion probably benign
RF053:A030005L19Rik UTSW 1 82,891,294 (GRCm39) small insertion probably benign
RF059:A030005L19Rik UTSW 1 82,891,300 (GRCm39) small insertion probably benign
RF060:A030005L19Rik UTSW 1 82,891,308 (GRCm39) small insertion probably benign
RF060:A030005L19Rik UTSW 1 82,891,300 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCTGTCTGACAGGGAAATAAAC -3'
(R):5'- GCATCACTTCTTGCAGCCAC -3'

Sequencing Primer
(F):5'- CAGGAGGAATTCAAGATTTTCCTG -3'
(R):5'- AGCAGACTACTGTAGGCTTGC -3'
Posted On 2019-12-04