Incidental Mutation 'IGL02727:1700019A02Rik'
ID305242
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700019A02Rik
Ensembl Gene ENSMUSG00000060715
Gene NameRIKEN cDNA 1700019A02 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.181) question?
Stock #IGL02727
Quality Score
Status
Chromosome1
Chromosomal Location53158577-53187636 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 53187565 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 13 (T13A)
Ref Sequence ENSEMBL: ENSMUSP00000072089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027267] [ENSMUST00000072235] [ENSMUST00000190748]
Predicted Effect probably benign
Transcript: ENSMUST00000027267
SMART Domains Protein: ENSMUSP00000027267
Gene: ENSMUSG00000026098

DomainStartEndE-ValueType
HATPase_c 16 151 3.84e-1 SMART
DNA_mis_repair 210 338 2.46e-25 SMART
low complexity region 457 474 N/A INTRINSIC
HMG 557 627 1.42e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000072235
AA Change: T13A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000072089
Gene: ENSMUSG00000060715
AA Change: T13A

DomainStartEndE-ValueType
coiled coil region 38 68 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190748
SMART Domains Protein: ENSMUSP00000139938
Gene: ENSMUSG00000060715

DomainStartEndE-ValueType
coiled coil region 38 68 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 T A 10: 83,506,605 K447I probably damaging Het
Ankrd17 A G 5: 90,244,292 S1840P possibly damaging Het
Ash1l A G 3: 89,023,037 I1940M probably benign Het
Bfar T G 16: 13,688,927 probably null Het
Bicra G T 7: 15,979,465 H937Q possibly damaging Het
Brip1 A T 11: 86,152,736 M334K probably benign Het
Camsap2 T G 1: 136,304,312 M182L probably benign Het
Ccdc144b T A 3: 36,032,916 R176S possibly damaging Het
Chd6 A T 2: 160,969,463 C1407S probably damaging Het
Cmya5 A G 13: 93,098,245 S112P possibly damaging Het
Csmd1 A T 8: 16,231,327 V728E probably damaging Het
Cyp2j6 T A 4: 96,545,764 Q103L probably benign Het
Ddias A T 7: 92,866,622 I21K probably damaging Het
Derl2 A C 11: 71,013,210 probably benign Het
Dgka A T 10: 128,722,448 probably benign Het
Dusp11 T C 6: 85,961,492 D15G probably damaging Het
Enpp2 T C 15: 54,910,181 D110G probably damaging Het
Fkbp11 A T 15: 98,724,590 V134E probably damaging Het
Gm3248 T C 14: 5,945,036 T49A probably damaging Het
Lrmp T C 6: 145,174,618 S520P possibly damaging Het
Luzp2 T C 7: 55,172,191 probably benign Het
Manea T A 4: 26,328,126 E305V probably damaging Het
Manea C A 4: 26,328,127 E305* probably null Het
Megf6 A G 4: 154,253,149 probably null Het
Mrpl3 G T 9: 105,054,527 D59Y probably damaging Het
Myh9 T C 15: 77,791,742 Y248C probably benign Het
Nbeal2 G A 9: 110,639,285 probably benign Het
Olfr1386 G T 11: 49,471,066 G305V probably benign Het
Olfr161 T A 16: 3,593,326 I310K probably benign Het
Olfr713 G T 7: 107,036,695 C180F probably damaging Het
Olfr889 A G 9: 38,116,512 T239A probably damaging Het
Pax8 C A 2: 24,441,630 C147F probably damaging Het
Phf12 T C 11: 78,023,667 V96A possibly damaging Het
Psg18 A T 7: 18,345,950 I442K probably damaging Het
Pygl T A 12: 70,207,668 probably null Het
Rassf2 C A 2: 132,004,387 R150L probably benign Het
Rdh7 A T 10: 127,887,618 W123R probably damaging Het
Saal1 T C 7: 46,689,799 probably null Het
Sall1 T C 8: 89,030,755 D907G probably damaging Het
Spag1 T A 15: 36,234,818 F876I probably damaging Het
Syncrip G A 9: 88,479,879 A61V probably damaging Het
Trbv3 A T 6: 41,048,642 K55N probably benign Het
Vmn1r178 A G 7: 23,894,446 probably null Het
Vmn2r84 T C 10: 130,394,126 D39G possibly damaging Het
Other mutations in 1700019A02Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01728:1700019A02Rik APN 1 53182509 missense probably benign 0.03
IGL02249:1700019A02Rik APN 1 53185272 nonsense probably null
IGL02970:1700019A02Rik APN 1 53187589 missense probably damaging 0.99
IGL03402:1700019A02Rik APN 1 53177813 missense probably benign 0.00
R1557:1700019A02Rik UTSW 1 53181866 missense possibly damaging 0.81
R1955:1700019A02Rik UTSW 1 53163241 missense probably benign 0.09
R4030:1700019A02Rik UTSW 1 53182509 missense probably benign 0.03
R4060:1700019A02Rik UTSW 1 53158769 missense probably damaging 0.97
R4061:1700019A02Rik UTSW 1 53158769 missense probably damaging 0.97
R4062:1700019A02Rik UTSW 1 53158769 missense probably damaging 0.97
R4327:1700019A02Rik UTSW 1 53182505 missense possibly damaging 0.90
R6018:1700019A02Rik UTSW 1 53163246 critical splice acceptor site probably null
R7490:1700019A02Rik UTSW 1 53163230 missense possibly damaging 0.90
R7715:1700019A02Rik UTSW 1 53182500 missense probably benign
Posted On2015-04-16