Incidental Mutation 'R5194:1700122O11Rik'
ID 400032
Institutional Source Beutler Lab
Gene Symbol 1700122O11Rik
Ensembl Gene ENSMUSG00000094928
Gene Name RIKEN cDNA 1700122O11 gene
Synonyms
MMRRC Submission 042770-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R5194 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 48347554-48349102 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48348059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 82 (N82D)
Ref Sequence ENSEMBL: ENSMUSP00000137519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178823]
AlphaFold J3QPW6
Predicted Effect probably benign
Transcript: ENSMUST00000178823
AA Change: N82D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137519
Gene: ENSMUSG00000094928
AA Change: N82D

DomainStartEndE-ValueType
coiled coil region 42 73 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 A G 4: 144,281,652 (GRCm39) V380A probably benign Het
Acadm C T 3: 153,638,755 (GRCm39) R206H possibly damaging Het
Acly T A 11: 100,414,372 (GRCm39) Y18F probably benign Het
Acnat2 G T 4: 49,380,452 (GRCm39) Q291K probably benign Het
Agtpbp1 T C 13: 59,648,453 (GRCm39) I456V probably benign Het
Ankrd7 A G 6: 18,868,076 (GRCm39) N114S possibly damaging Het
Arfgef1 A T 1: 10,275,132 (GRCm39) L307I probably benign Het
Arhgef2 A T 3: 88,542,956 (GRCm39) I383F probably damaging Het
Cbs C T 17: 31,843,198 (GRCm39) probably null Het
Cep135 T C 5: 76,763,624 (GRCm39) V538A probably benign Het
Dennd5a T C 7: 109,532,936 (GRCm39) E254G probably damaging Het
Drc7 T C 8: 95,788,345 (GRCm39) V236A probably benign Het
Dtna C T 18: 23,723,302 (GRCm39) Q169* probably null Het
Egfem1 G A 3: 29,411,345 (GRCm39) probably null Het
Eif2ak3 T C 6: 70,835,462 (GRCm39) S130P possibly damaging Het
Ewsr1 T C 11: 5,032,355 (GRCm39) N297S unknown Het
F13a1 T G 13: 37,156,037 (GRCm39) D192A probably damaging Het
Fam120a A G 13: 49,034,411 (GRCm39) V1067A probably benign Het
Gm17490 T C 2: 11,631,062 (GRCm39) Y5C unknown Het
Gm57859 T C 11: 113,579,654 (GRCm39) S350P possibly damaging Het
Gm8587 C T 12: 88,056,556 (GRCm39) noncoding transcript Het
H2-Ab1 C T 17: 34,488,352 (GRCm39) probably benign Het
Hoxd12 T C 2: 74,505,447 (GRCm39) L6P probably damaging Het
Ifi204 C T 1: 173,576,910 (GRCm39) D564N possibly damaging Het
Irak2 T C 6: 113,667,751 (GRCm39) V444A probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrba A C 3: 86,235,526 (GRCm39) N877H probably damaging Het
Mylk3 T C 8: 86,079,495 (GRCm39) I388V probably benign Het
Myo9b C T 8: 71,801,733 (GRCm39) A1286V probably benign Het
Myt1l A C 12: 29,861,647 (GRCm39) D143A unknown Het
Ngfr T C 11: 95,471,808 (GRCm39) N63S probably benign Het
Or2ag16 A T 7: 106,352,426 (GRCm39) H56Q probably benign Het
Or4c3 T A 2: 89,851,870 (GRCm39) Y180F probably damaging Het
Or51a7 A G 7: 102,615,071 (GRCm39) I255V probably benign Het
Or6c70 C T 10: 129,709,967 (GRCm39) V220I probably benign Het
Or6z6 A G 7: 6,491,519 (GRCm39) L118P probably damaging Het
P2rx7 T C 5: 122,811,858 (GRCm39) S390P probably benign Het
Pcdhga4 A C 18: 37,820,794 (GRCm39) Q781P probably benign Het
Phip G A 9: 82,790,915 (GRCm39) S677F probably benign Het
Ptpdc1 C A 13: 48,740,265 (GRCm39) V389F possibly damaging Het
Rab2a T A 4: 8,604,381 (GRCm39) I161N probably benign Het
Rnf113a2 T A 12: 84,464,111 (GRCm39) M1K probably null Het
Schip1 T C 3: 68,402,205 (GRCm39) V122A probably benign Het
Sdr16c5 C A 4: 4,006,663 (GRCm39) A210S probably benign Het
Sh3bp1 A G 15: 78,787,301 (GRCm39) K83E probably damaging Het
Sipa1l2 T C 8: 126,166,012 (GRCm39) S1541G possibly damaging Het
Slc22a21 T C 11: 53,870,673 (GRCm39) Y4C probably damaging Het
Smco1 C T 16: 32,092,592 (GRCm39) H88Y probably damaging Het
Tll2 T C 19: 41,084,336 (GRCm39) D697G probably damaging Het
Trim34a A G 7: 103,910,200 (GRCm39) N334S possibly damaging Het
Ubqln1 A G 13: 58,346,847 (GRCm39) I64T probably benign Het
Vstm2b T A 7: 40,551,912 (GRCm39) probably null Het
Wdr17 A G 8: 55,140,639 (GRCm39) F238L probably damaging Het
Wiz T C 17: 32,596,822 (GRCm39) probably benign Het
Zfp407 T C 18: 84,579,434 (GRCm39) S560G probably benign Het
Other mutations in 1700122O11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02830:1700122O11Rik APN 17 48,348,235 (GRCm39) missense possibly damaging 0.46
IGL02927:1700122O11Rik APN 17 48,347,729 (GRCm39) nonsense probably null
R2013:1700122O11Rik UTSW 17 48,347,723 (GRCm39) missense possibly damaging 0.53
R2014:1700122O11Rik UTSW 17 48,347,723 (GRCm39) missense possibly damaging 0.53
R4698:1700122O11Rik UTSW 17 48,349,049 (GRCm39) missense possibly damaging 0.46
R6352:1700122O11Rik UTSW 17 48,347,945 (GRCm39) missense probably benign 0.08
R6512:1700122O11Rik UTSW 17 48,347,672 (GRCm39) missense possibly damaging 0.83
R7546:1700122O11Rik UTSW 17 48,348,330 (GRCm39) missense probably benign
R8429:1700122O11Rik UTSW 17 48,347,875 (GRCm39) nonsense probably null
R9089:1700122O11Rik UTSW 17 48,347,951 (GRCm39) nonsense probably null
R9165:1700122O11Rik UTSW 17 48,348,357 (GRCm39) missense probably benign 0.05
R9377:1700122O11Rik UTSW 17 48,348,273 (GRCm39) missense probably benign
R9442:1700122O11Rik UTSW 17 48,347,580 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- CCAATGAGGGCAAGGTTTTAG -3'
(R):5'- CCTATGTCCAAGATCTCATCATTGG -3'

Sequencing Primer
(F):5'- ATGAGGGCAAGGTTTTAGGGGTG -3'
(R):5'- TCTCATCATTGGAAGATATTTGGAAC -3'
Posted On 2016-07-06