Incidental Mutation 'IGL02830:1700122O11Rik'
ID 361408
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700122O11Rik
Ensembl Gene ENSMUSG00000094928
Gene Name RIKEN cDNA 1700122O11 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL02830
Quality Score
Status
Chromosome 17
Chromosomal Location 48347554-48349102 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48348235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 67 (E67D)
Ref Sequence ENSEMBL: ENSMUSP00000137519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178823]
AlphaFold J3QPW6
Predicted Effect possibly damaging
Transcript: ENSMUST00000178823
AA Change: E67D

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000137519
Gene: ENSMUSG00000094928
AA Change: E67D

DomainStartEndE-ValueType
coiled coil region 42 73 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 T A 9: 103,953,118 (GRCm39) F116I probably damaging Het
Acox2 G A 14: 8,255,298 (GRCm38) T160I probably damaging Het
Anxa7 A T 14: 20,506,608 (GRCm39) M444K possibly damaging Het
Atg2a A G 19: 6,297,711 (GRCm39) D423G probably benign Het
Cela3a T C 4: 137,128,946 (GRCm39) N282S probably benign Het
Cyp2c50 G A 19: 40,086,500 (GRCm39) V296I probably benign Het
Fcgbpl1 C A 7: 27,862,348 (GRCm39) H2471Q probably damaging Het
Fgd3 A G 13: 49,418,107 (GRCm39) probably benign Het
Gfus C T 15: 75,797,437 (GRCm39) V275I probably benign Het
Gimap8 G A 6: 48,633,239 (GRCm39) A353T probably benign Het
Grin3a T A 4: 49,702,787 (GRCm39) M900L possibly damaging Het
H1f0 T G 15: 78,913,511 (GRCm39) probably benign Het
Heatr1 T C 13: 12,441,093 (GRCm39) V1456A possibly damaging Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Kbtbd3 T A 9: 4,330,096 (GRCm39) S157T possibly damaging Het
Kif19a C T 11: 114,672,034 (GRCm39) T207M probably damaging Het
Klc1 T C 12: 111,743,341 (GRCm39) Y223H probably damaging Het
Klhl33 C T 14: 51,129,214 (GRCm39) V672M probably damaging Het
Lrrc49 G A 9: 60,592,393 (GRCm39) L34F probably damaging Het
Nalcn C T 14: 123,530,881 (GRCm39) V1386I probably damaging Het
Or14c39 T G 7: 86,344,382 (GRCm39) C239W probably damaging Het
Or4b13 A T 2: 90,083,125 (GRCm39) I69N probably damaging Het
Or51b6 C T 7: 103,555,651 (GRCm39) P2S probably benign Het
Or5ac19 A G 16: 59,089,416 (GRCm39) S205P possibly damaging Het
Orc5 A T 5: 22,734,265 (GRCm39) L173Q probably damaging Het
Otud4 T G 8: 80,399,930 (GRCm39) D880E probably benign Het
Pde12 T C 14: 26,389,740 (GRCm39) Y323C probably damaging Het
Pde8b G T 13: 95,189,409 (GRCm39) D198E probably benign Het
Prom2 T A 2: 127,376,989 (GRCm39) I542F possibly damaging Het
Ptprj G A 2: 90,283,488 (GRCm39) T952I probably benign Het
Ribc2 T A 15: 85,016,458 (GRCm39) probably benign Het
Sec31b C T 19: 44,520,142 (GRCm39) R214K probably damaging Het
Senp5 G A 16: 31,802,303 (GRCm39) probably benign Het
Sh3pxd2a G A 19: 47,271,517 (GRCm39) R249W probably damaging Het
Sorcs3 G A 19: 48,711,441 (GRCm39) probably null Het
Spata31d1c A G 13: 65,183,180 (GRCm39) T241A probably benign Het
Tac1 G A 6: 7,555,650 (GRCm39) V13I probably benign Het
Tnnc2 T A 2: 164,619,430 (GRCm39) D138V probably null Het
Tspan32 T A 7: 142,571,329 (GRCm39) M159K possibly damaging Het
Ttc28 A T 5: 111,434,105 (GRCm39) T2380S probably benign Het
Ubc T A 5: 125,464,377 (GRCm39) I317F probably damaging Het
Usp24 T C 4: 106,204,584 (GRCm39) S268P possibly damaging Het
Vmn2r91 C A 17: 18,356,884 (GRCm39) H850Q probably benign Het
Xrn1 T C 9: 95,900,234 (GRCm39) probably null Het
Zfp329 A C 7: 12,544,043 (GRCm39) C494G probably damaging Het
Zfp54 T C 17: 21,653,718 (GRCm39) S71P probably damaging Het
Other mutations in 1700122O11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5194:1700122O11Rik UTSW 17 48,348,059 (GRCm39) missense probably benign
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
Posted On 2015-12-18