Incidental Mutation 'RF011:A030005L19Rik'
ID 603179
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 # RF011 (G1)
Quality Score 217.68
Status Not validated
Chromosome 1
Chromosomal Location 82891046-82891851 bp(+) (GRCm39)
Type of Mutation small insertion (3 aa in frame mutation)
DNA Base Change (assembly) TGGCTGCTG to TGGCTGCTGGGGCTGCTG at 82891294 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: 99.5%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI837181 GCG GCGTCG 19: 5,475,264 (GRCm39) probably benign Het
Ankrd24 C CGGAGGCAGAGGA 10: 81,479,405 (GRCm39) probably benign Het
Aqp2 T C 15: 99,481,753 (GRCm39) S216P probably damaging Het
Brd10 T C 19: 29,721,009 (GRCm39) K672R possibly damaging Het
Cacna1f GGA GGAAGA X: 7,486,295 (GRCm39) probably benign Het
Ccdc170 CCA CCAGCA 10: 4,511,018 (GRCm39) probably benign Het
Cd109 TATTTAT TATTTATTTATTCATTTAT 9: 78,619,810 (GRCm39) probably benign Het
Cela2a T C 4: 141,549,026 (GRCm39) N117D probably benign Het
Cul9 CTTC CTTCTTC 17: 46,811,774 (GRCm39) probably benign Het
Cyb5r2 A T 7: 107,350,375 (GRCm39) S235R probably benign Het
Dnmt1 CACAGTTCCTACCTCGTT CACAGTTCCTACCTCGTTTTGGGGGCGGAGAACAGTTCCTACCTCGTT 9: 20,821,424 (GRCm39) probably null Het
Dnmt1 TT TTTTGGGGGCGGAGCACAGTTCCTACCTCGAT 9: 20,821,440 (GRCm39) probably null Het
E4f1 CCG CCGTCG 17: 24,674,160 (GRCm39) probably benign Het
Fam171b TCCAGCA TCCAGCACCAGCA 2: 83,643,217 (GRCm39) probably benign Het
Fam171b GC GCAGCATC 2: 83,643,239 (GRCm39) probably benign Het
Fam81b CTGTT CTGTTGTT 13: 76,419,435 (GRCm39) probably benign Het
Fkbp1a GCCGCCGCCA G 2: 151,384,619 (GRCm39) probably null Het
Flii G A 11: 60,607,069 (GRCm39) A969V probably benign Het
Fscb AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGTAGGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG 12: 64,519,768 (GRCm39) probably benign Het
Gas1 G GAAA 13: 60,324,345 (GRCm39) probably benign Het
Grip1 A G 10: 119,767,220 (GRCm39) D115G probably null Het
Guca2b G T 4: 119,514,044 (GRCm39) T89N possibly damaging Het
Hcn4 T A 9: 58,767,198 (GRCm39) S920T unknown Het
Heatr1 A G 13: 12,422,425 (GRCm39) M484V probably benign Het
Iba57 G T 11: 59,054,438 (GRCm39) A27E probably benign Het
Ifi207 G C 1: 173,556,687 (GRCm39) L684V not run Het
Ints13 T C 6: 146,457,738 (GRCm39) H380R probably damaging Het
Jmjd1c C T 10: 67,055,978 (GRCm39) T466I possibly damaging Het
Kcnh8 G A 17: 53,285,267 (GRCm39) R1079H probably benign Het
Kif12 C CCTCCACCCGGCGGGG 4: 63,089,664 (GRCm39) probably benign Het
Kmt2c A T 5: 25,543,457 (GRCm39) D1399E probably damaging Het
Macf1 A T 4: 123,367,648 (GRCm39) L2371Q probably damaging Het
Mbd1 GTCTTCGTCTGCATCTGCATCTGCATCT GTCT 18: 74,406,681 (GRCm39) probably benign Het
Med12l GCA GCATCA 3: 59,183,401 (GRCm39) probably benign Het
Mgam C A 6: 40,734,370 (GRCm39) Q1472K probably damaging Het
Mup21 TATACTT TATACTTTTTAGATACTT 4: 62,067,582 (GRCm39) probably benign Het
Nalf2 CGCCGC CGCCGCAGCCGC X: 98,864,967 (GRCm39) probably benign Het
Nipal1 A G 5: 72,824,156 (GRCm39) N167D probably damaging Het
Or4d10c C T 19: 12,065,611 (GRCm39) V182I probably benign Het
Or5be3 T A 2: 86,864,385 (GRCm39) Y60F probably damaging Het
Osbpl3 CCTGCA C 6: 50,325,118 (GRCm39) probably benign Het
Phf20 CCCCCCCCC CCCCCCCCCCCCCCCC 2: 156,146,540 (GRCm39) probably benign Het
Phf20 CCCCCCCC CCCCCCCCCCCCCCC 2: 156,146,541 (GRCm39) probably benign Het
Pramel16 C G 4: 143,675,478 (GRCm39) Q449H probably damaging Het
Rassf6 TCCTGTAGAGCAATGGGGATTC TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC 5: 90,756,780 (GRCm39) probably benign Het
Rbm33 CCAGCCGCAGC CCAGC 5: 28,599,179 (GRCm39) probably benign Het
Rubcnl T C 14: 75,281,878 (GRCm39) F445S probably damaging Het
S100a10 TTTTTTTA T 3: 93,471,541 (GRCm39) probably benign Het
Sbp AA AAAATGCTGACAACGGA 17: 24,164,328 (GRCm39) probably benign Het
Sec14l3 A C 11: 4,017,963 (GRCm39) Q81P possibly damaging Het
Setd1a TGGTGGTGG TGGTGGTGGGGGTGGTGG 7: 127,384,515 (GRCm39) probably benign Het
Six3 CGG CGGGGG 17: 85,928,796 (GRCm39) probably benign Het
Snapc5 ATGGAAGAAGAGG A 9: 64,089,493 (GRCm39) probably benign Het
Tbc1d12 CGGAGGAGG CGG 19: 38,825,401 (GRCm39) probably benign Het
Tcof1 AGC AGCCGC 18: 60,968,811 (GRCm39) probably benign Het
Tox2 A G 2: 163,067,484 (GRCm39) I68V probably benign Het
Triml2 G T 8: 43,636,201 (GRCm39) probably benign Het
Tspan33 A G 6: 29,716,729 (GRCm39) Y162C probably damaging Het
Zfp384 GGCCCAGGCCCA GGCCCAGGCCCAAGCCCAGGCCCA 6: 125,013,439 (GRCm39) probably benign Het
Zfp948 T C 17: 21,808,574 (GRCm39) Y589H probably damaging Het
Zic1 T C 9: 91,246,383 (GRCm39) I230V 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 82,891,290 (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
RF060:A030005L19Rik UTSW 1 82,891,117 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- GTCCTCTCTACTGACAACATGG -3'
(R):5'- ACCAGTGTGGCCTCCATATC -3'

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