Incidental Mutation 'IGL02056:2310050C09Rik'
ID185224
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2310050C09Rik
Ensembl Gene ENSMUSG00000090314
Gene NameRIKEN cDNA 2310050C09 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.193) question?
Stock #IGL02056
Quality Score
Status
Chromosome3
Chromosomal Location92868359-92870216 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 92868893 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 161 (Q161L)
Ref Sequence ENSEMBL: ENSMUSP00000126921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163439]
Predicted Effect probably benign
Transcript: ENSMUST00000163439
AA Change: Q161L

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000126921
Gene: ENSMUSG00000090314
AA Change: Q161L

DomainStartEndE-ValueType
low complexity region 17 28 N/A INTRINSIC
internal_repeat_1 47 96 3.58e-12 PROSPERO
internal_repeat_1 104 151 3.58e-12 PROSPERO
low complexity region 152 171 N/A INTRINSIC
low complexity region 220 258 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg101 T C 15: 101,290,337 S108P probably damaging Het
BB014433 A T 8: 15,042,435 C139* probably null Het
Cacna1s A G 1: 136,119,000 N1808S probably benign Het
Ccdc148 A G 2: 59,004,069 probably benign Het
Dnah7a T G 1: 53,504,342 N2223T probably benign Het
Fgl2 T A 5: 21,375,545 I295K probably damaging Het
Foxj3 T C 4: 119,585,757 I126T probably damaging Het
Gm4540 T A 3: 106,034,740 probably benign Het
Hps5 T G 7: 46,788,182 K156N probably damaging Het
Hsp90aa1 T C 12: 110,694,015 probably benign Het
Il12rb1 C T 8: 70,811,187 R131* probably null Het
Itgb2l T C 16: 96,427,689 E438G probably damaging Het
Nbeal2 A T 9: 110,627,324 L2379Q probably benign Het
Neurl4 T C 11: 69,905,790 V481A probably damaging Het
Nos1ap A G 1: 170,318,623 F454S possibly damaging Het
Pik3r5 G T 11: 68,490,855 G242C possibly damaging Het
Pkd1l3 A G 8: 109,631,378 N834S probably benign Het
Prkar2b A G 12: 31,975,910 probably benign Het
Pusl1 T C 4: 155,890,572 T191A probably benign Het
Rasal2 A G 1: 157,299,261 V51A probably damaging Het
Rsc1a1 T A 4: 141,685,485 I39F probably benign Het
Slc2a3 G A 6: 122,735,478 P269L probably damaging Het
Sntb1 C T 15: 55,648,039 G383D possibly damaging Het
Washc5 T C 15: 59,350,336 T547A possibly damaging Het
Zfr T C 15: 12,154,447 V572A probably damaging Het
Zmym6 T A 4: 127,103,414 N275K probably damaging Het
Other mutations in 2310050C09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0421:2310050C09Rik UTSW 3 92868984 missense probably damaging 0.99
R1388:2310050C09Rik UTSW 3 92869049 missense probably damaging 1.00
R2187:2310050C09Rik UTSW 3 92868615 missense probably damaging 1.00
R4213:2310050C09Rik UTSW 3 92869127 missense probably benign 0.01
R4240:2310050C09Rik UTSW 3 92868591 missense possibly damaging 0.89
R5394:2310050C09Rik UTSW 3 92868698 missense probably damaging 1.00
R6124:2310050C09Rik UTSW 3 92869058 missense probably damaging 1.00
R6804:2310050C09Rik UTSW 3 92869047 missense possibly damaging 0.67
Posted On2014-05-07