Incidental Mutation 'IGL03145:1700020N01Rik'
ID410850
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700020N01Rik
Ensembl Gene ENSMUSG00000050844
Gene NameRIKEN cDNA 1700020N01 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL03145
Quality Score
Status
Chromosome10
Chromosomal Location21593145-21622376 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 21593438 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 17 (D17G)
Ref Sequence ENSEMBL: ENSMUSP00000054237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057341]
Predicted Effect probably damaging
Transcript: ENSMUST00000057341
AA Change: D17G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054237
Gene: ENSMUSG00000050844
AA Change: D17G

DomainStartEndE-ValueType
KRAB 13 70 1.2e-12 SMART
Meta Mutation Damage Score 0.5038 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 C T 8: 40,824,658 P29S probably benign Het
Afap1l1 T C 18: 61,741,809 K434E possibly damaging Het
Akap7 T C 10: 25,239,667 T187A probably damaging Het
Atp7b A C 8: 22,018,143 I479S probably damaging Het
Cdh23 T A 10: 60,376,814 E1606V probably damaging Het
Cnga3 A G 1: 37,261,674 S530G probably damaging Het
Col13a1 A G 10: 61,891,261 Y228H probably benign Het
Cybb C A X: 9,453,653 E203* probably null Het
Dnah6 A T 6: 73,041,054 M3594K probably damaging Het
Galnt14 C A 17: 73,504,908 Q439H possibly damaging Het
Gck T A 11: 5,909,093 D158V probably damaging Het
Gm5624 A G 14: 44,560,765 M85T possibly damaging Het
Hgsnat A T 8: 25,946,452 N557K probably damaging Het
Idua A G 5: 108,681,496 T388A probably benign Het
Itgam A G 7: 128,113,019 D692G probably benign Het
Lrrtm3 A G 10: 64,089,020 Y123H probably benign Het
Mccc1 C T 3: 35,968,446 R566H probably benign Het
Myh7 A T 14: 54,983,345 L999Q probably damaging Het
Myo6 T G 9: 80,300,665 Y1146* probably null Het
Nr3c1 C A 18: 39,486,260 G325W probably damaging Het
Olfr458 A G 6: 42,460,500 V173A probably benign Het
Olfr497 T A 7: 108,422,599 H9Q probably benign Het
Olfr862 T A 9: 19,883,439 I289F possibly damaging Het
Phf1 T C 17: 26,934,370 probably null Het
Piezo1 T C 8: 122,482,921 T2349A probably benign Het
Pih1d1 T C 7: 45,159,121 probably null Het
Pold3 A G 7: 100,096,512 S145P probably damaging Het
Prpf38b G T 3: 108,903,945 probably benign Het
Racgap1 A T 15: 99,623,640 M545K probably benign Het
Safb T C 17: 56,605,287 Y802H probably damaging Het
Serpina3f A T 12: 104,217,457 M193L probably benign Het
Slc43a2 G A 11: 75,568,437 V432M probably benign Het
Spata2l T C 8: 123,233,336 R405G possibly damaging Het
Sv2c A G 13: 95,989,098 V377A probably damaging Het
Tbc1d15 C T 10: 115,202,516 M597I probably benign Het
Tenm4 A T 7: 96,842,968 R1036S probably damaging Het
Tjp3 A G 10: 81,283,688 Y15H probably benign Het
Tkt A G 14: 30,560,688 probably benign Het
Tpm2 T C 4: 43,519,447 E145G probably damaging Het
Trib2 G A 12: 15,809,931 H110Y probably damaging Het
Trim60 A T 8: 65,000,572 S342T probably damaging Het
Ube2o T C 11: 116,544,009 E542G probably damaging Het
Usp36 T C 11: 118,279,241 D218G probably damaging Het
Zfp407 A G 18: 84,209,721 L1921P probably damaging Het
Zfp983 G T 17: 21,659,008 M42I probably damaging Het
Other mutations in 1700020N01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0685:1700020N01Rik UTSW 10 21593438 missense probably damaging 1.00
R1186:1700020N01Rik UTSW 10 21621652 missense probably benign 0.01
R1626:1700020N01Rik UTSW 10 21621672 missense possibly damaging 0.52
R2507:1700020N01Rik UTSW 10 21621782 utr 3 prime probably benign
R6666:1700020N01Rik UTSW 10 21593329 splice site probably null
R6702:1700020N01Rik UTSW 10 21621659 nonsense probably null
R6703:1700020N01Rik UTSW 10 21621659 nonsense probably null
R8297:1700020N01Rik UTSW 10 21621679 missense probably damaging 0.98
Posted On2016-08-02