Incidental Mutation 'R6666:1700020N01Rik'
ID 526981
Institutional Source Beutler Lab
Gene Symbol 1700020N01Rik
Ensembl Gene ENSMUSG00000050844
Gene Name RIKEN cDNA 1700020N01 gene
Synonyms
MMRRC Submission 044786-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R6666 (G1)
Quality Score 174.009
Status Validated
Chromosome 10
Chromosomal Location 21469044-21498274 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 21469228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000054237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057341]
AlphaFold Q8CF20
Predicted Effect probably null
Transcript: ENSMUST00000057341
SMART Domains Protein: ENSMUSP00000054237
Gene: ENSMUSG00000050844

DomainStartEndE-ValueType
KRAB 13 70 1.2e-12 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap24 A G 5: 102,700,163 (GRCm39) probably null Het
Atp12a G T 14: 56,610,821 (GRCm39) V322L probably benign Het
Capza1 A C 3: 104,735,922 (GRCm39) probably null Het
Cela3a A T 4: 137,131,175 (GRCm39) S188T probably benign Het
Cplx1 G T 5: 108,668,031 (GRCm39) Y123* probably null Het
Ddias A T 7: 92,507,289 (GRCm39) D875E probably benign Het
Dnah3 T C 7: 119,670,172 (GRCm39) E715G probably benign Het
Fam83e A G 7: 45,376,426 (GRCm39) T380A probably benign Het
Fancd2 T C 6: 113,562,470 (GRCm39) V1270A probably damaging Het
Foxh1 A G 15: 76,552,613 (GRCm39) F367S probably damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gprc5a A G 6: 135,056,473 (GRCm39) I307V probably benign Het
Gtpbp3 A G 8: 71,943,582 (GRCm39) D212G possibly damaging Het
Helb A G 10: 119,920,856 (GRCm39) V1029A probably damaging Het
Il22ra1 A T 4: 135,477,772 (GRCm39) H281L probably damaging Het
Il2rb TAGTCA TAGTCAGTCA 15: 78,366,034 (GRCm39) probably null Het
Itga3 T C 11: 94,956,652 (GRCm39) T170A probably benign Het
Kdm3a T C 6: 71,588,974 (GRCm39) E345G probably benign Het
Kif11 T C 19: 37,398,214 (GRCm39) I680T probably benign Het
Klhl28 C T 12: 64,990,301 (GRCm39) D547N probably benign Het
Limk2 T A 11: 3,310,493 (GRCm39) E49D probably damaging Het
Lmbrd2 T A 15: 9,151,656 (GRCm39) F120I probably benign Het
Mefv T A 16: 3,525,862 (GRCm39) N802Y possibly damaging Het
Ms4a2 C T 19: 11,595,787 (GRCm39) S168N probably benign Het
Myct1 T C 10: 5,554,333 (GRCm39) S67P probably damaging Het
Myh4 A G 11: 67,142,638 (GRCm39) E933G probably damaging Het
Naif1 C A 2: 32,344,863 (GRCm39) T189K probably damaging Het
Nppb A G 4: 148,070,463 (GRCm39) I11V probably benign Het
Nr3c1 T C 18: 39,620,200 (GRCm39) D29G probably damaging Het
Nrcam A G 12: 44,618,338 (GRCm39) Y782C probably damaging Het
Or1af1 A T 2: 37,110,331 (GRCm39) I277F probably damaging Het
Or51e1 T C 7: 102,359,135 (GRCm39) probably null Het
Or9m1 T A 2: 87,733,852 (GRCm39) H56L probably damaging Het
Parp1 A G 1: 180,413,516 (GRCm39) T375A probably benign Het
Pcdhgb1 G T 18: 37,814,546 (GRCm39) E346* probably null Het
Pds5b G T 5: 150,701,631 (GRCm39) S754I probably damaging Het
Scnn1g G A 7: 121,366,611 (GRCm39) D603N probably benign Het
Slitrk5 A G 14: 111,917,534 (GRCm39) D386G probably damaging Het
Trmt1 T C 8: 85,425,083 (GRCm39) L493P probably damaging Het
Vrk1 A G 12: 106,024,910 (GRCm39) E262G probably damaging Het
Wfs1 T C 5: 37,124,963 (GRCm39) T567A possibly damaging Het
Zbtb11 A T 16: 55,826,615 (GRCm39) K846I probably damaging Het
Zfp318 A G 17: 46,720,140 (GRCm39) T1113A probably benign Het
Zfp654 A T 16: 64,606,596 (GRCm39) S535R probably benign Het
Other mutations in 1700020N01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03145:1700020N01Rik APN 10 21,469,337 (GRCm39) missense probably damaging 1.00
R0685:1700020N01Rik UTSW 10 21,469,337 (GRCm39) missense probably damaging 1.00
R1186:1700020N01Rik UTSW 10 21,497,551 (GRCm39) missense probably benign 0.01
R1626:1700020N01Rik UTSW 10 21,497,571 (GRCm39) missense possibly damaging 0.52
R2507:1700020N01Rik UTSW 10 21,497,681 (GRCm39) utr 3 prime probably benign
R6702:1700020N01Rik UTSW 10 21,497,558 (GRCm39) nonsense probably null
R6703:1700020N01Rik UTSW 10 21,497,558 (GRCm39) nonsense probably null
R8297:1700020N01Rik UTSW 10 21,497,578 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GCGGAATTTTCGGTGACATC -3'
(R):5'- GGAGCTTCTGAGTGTCATCGAG -3'

Sequencing Primer
(F):5'- GTGACATCACCACAGAAAGTTCG -3'
(R):5'- CTTCTGAGTGTCATCGAGGAGACC -3'
Posted On 2018-07-23