Incidental Mutation 'IGL03406:1700012P22Rik'
ID421590
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700012P22Rik
Ensembl Gene ENSMUSG00000028589
Gene NameRIKEN cDNA 1700012P22 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL03406
Quality Score
Status
Chromosome4
Chromosomal Location144418189-144438772 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 144423844 bp
ZygosityHeterozygous
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