Incidental Mutation 'IGL03406:1700012P22Rik'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700012P22Rik
Ensembl Gene ENSMUSG00000028589
Gene NameRIKEN cDNA 1700012P22 gene
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL03406
Quality Score
Chromosomal Location144418189-144438772 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 144423844 bp
Amino Acid Change Tyrosine to Histidine at position 56 (Y56H)
Ref Sequence ENSEMBL: ENSMUSP00000030323 (fasta)
Predicted Effect probably damaging
Transcript: ENSMUST00000030323
AA Change: Y56H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530016L24Rik T A 12: 112,496,883 probably null Het
Adcy7 C T 8: 88,318,319 R228* probably null Het
Cdcp1 T C 9: 123,185,313 H132R probably benign Het
Cyp4a32 T C 4: 115,602,303 I78T probably benign Het
Fap A T 2: 62,542,122 probably benign Het
Gad1-ps C T 10: 99,444,779 noncoding transcript Het
Gli3 T C 13: 15,648,581 I296T probably damaging Het
H2-Q2 T C 17: 35,342,825 V97A probably benign Het
Hr T A 14: 70,563,420 probably null Het
Itgax C T 7: 128,149,198 T1133I possibly damaging Het
L3mbtl2 G A 15: 81,681,993 R339H probably damaging Het
Mast4 T C 13: 102,737,107 K1726E possibly damaging Het
Nlrc5 T C 8: 94,476,855 Y528H probably benign Het
Nmnat3 G A 9: 98,399,477 G44D probably damaging Het
Nol8 A T 13: 49,661,568 D366V probably damaging Het
Olfr539 C A 7: 140,667,511 L68M probably damaging Het
Pde4d A T 13: 109,954,591 probably benign Het
Ptpn22 C A 3: 103,912,016 N795K probably benign Het
Rabgap1l A T 1: 160,722,169 V289D probably damaging Het
Slc50a1 T C 3: 89,270,101 D40G possibly damaging Het
Slco6b1 T C 1: 96,947,585 noncoding transcript Het
Smarcad1 T A 6: 65,092,526 F530Y probably damaging Het
Spag6 A G 2: 18,742,873 probably benign Het
Supt16 A T 14: 52,178,141 I379N possibly damaging Het
Tmem154 A G 3: 84,684,260 N39S probably benign Het
Ubash3b T A 9: 41,037,479 Y180F probably damaging Het
Usp48 T A 4: 137,639,295 D921E possibly damaging Het
Zdhhc20 T C 14: 57,839,099 T366A probably benign Het
Zfp456 A T 13: 67,366,331 C419S probably damaging Het
Zfp69 T C 4: 120,931,084 T345A probably benign Het
Other mutations in 1700012P22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01690:1700012P22Rik APN 4 144438528 missense probably damaging 1.00
IGL02120:1700012P22Rik APN 4 144418411 missense probably benign 0.00
R0699:1700012P22Rik UTSW 4 144419752 missense probably damaging 1.00
R5380:1700012P22Rik UTSW 4 144423802 missense probably damaging 0.98
R7405:1700012P22Rik UTSW 4 144419753 missense probably damaging 0.98
R7607:1700012P22Rik UTSW 4 144419762 missense probably damaging 0.99
Posted On2016-08-02