Incidental Mutation 'IGL03383:Gm5093'
ID 420765
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5093
Ensembl Gene ENSMUSG00000091742
Gene Name predicted gene 5093
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.336) question?
Stock # IGL03383
Quality Score
Status
Chromosome 17
Chromosomal Location 46750504-46751023 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46750517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 170 (I170T)
Ref Sequence ENSEMBL: ENSMUSP00000127966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047034] [ENSMUST00000087012] [ENSMUST00000166852]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000047034
SMART Domains Protein: ENSMUSP00000044580
Gene: ENSMUSG00000015599

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 34 293 3.4e-21 PFAM
Pfam:Pkinase 34 305 1.7e-33 PFAM
low complexity region 320 334 N/A INTRINSIC
low complexity region 371 395 N/A INTRINSIC
low complexity region 570 593 N/A INTRINSIC
low complexity region 611 624 N/A INTRINSIC
low complexity region 633 653 N/A INTRINSIC
low complexity region 697 709 N/A INTRINSIC
coiled coil region 729 776 N/A INTRINSIC
low complexity region 779 797 N/A INTRINSIC
low complexity region 893 913 N/A INTRINSIC
low complexity region 945 962 N/A INTRINSIC
low complexity region 1090 1115 N/A INTRINSIC
low complexity region 1236 1251 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000087012
SMART Domains Protein: ENSMUSP00000084234
Gene: ENSMUSG00000067144

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:MFS_1 82 479 1.2e-32 PFAM
Pfam:Sugar_tr 86 524 2.5e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166852
AA Change: I170T

PolyPhen 2 Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127966
Gene: ENSMUSG00000091742
AA Change: I170T

DomainStartEndE-ValueType
Pfam:Ribosomal_L5 10 59 4.1e-18 PFAM
Pfam:Ribosomal_L5_C 63 161 8.7e-25 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl4 C T 4: 111,514,620 (GRCm39) probably benign Het
Cit T C 5: 116,011,904 (GRCm39) probably benign Het
Clmp A G 9: 40,685,737 (GRCm39) N211S probably damaging Het
Cnot2 A G 10: 116,330,722 (GRCm39) probably benign Het
Cntn6 A G 6: 104,753,418 (GRCm39) probably benign Het
Dnajb9 C T 12: 44,255,096 (GRCm39) probably benign Het
Ece2 T A 16: 20,451,847 (GRCm39) N411K possibly damaging Het
Fshr A G 17: 89,354,127 (GRCm39) I77T possibly damaging Het
Fshr A G 17: 89,293,121 (GRCm39) M519T probably damaging Het
Gm10654 G A 8: 71,384,775 (GRCm39) noncoding transcript Het
Meis3 A G 7: 15,917,744 (GRCm39) K299R probably damaging Het
Nxf1 T C 19: 8,741,061 (GRCm39) F15L probably damaging Het
Nxpe3 T C 16: 55,670,076 (GRCm39) D343G probably benign Het
Or4a73 A T 2: 89,420,656 (GRCm39) Y268N probably benign Het
Polr3k A G 2: 181,507,820 (GRCm39) T65A probably damaging Het
Preb A T 5: 31,115,665 (GRCm39) W222R probably damaging Het
Psmd11 T C 11: 80,360,671 (GRCm39) I56T probably damaging Het
Rtkn2 A G 10: 67,853,667 (GRCm39) T232A probably damaging Het
Scaf11 T C 15: 96,318,064 (GRCm39) probably null Het
Slc4a10 A T 2: 62,097,780 (GRCm39) K493M probably damaging Het
Stard10 A G 7: 100,991,777 (GRCm39) K112E probably damaging Het
Sugp1 A T 8: 70,522,217 (GRCm39) probably benign Het
Tasor A G 14: 27,163,918 (GRCm39) I235V possibly damaging Het
Tmem156 T C 5: 65,233,040 (GRCm39) E139G probably damaging Het
Tubd1 C T 11: 86,439,834 (GRCm39) probably benign Het
Uap1 G A 1: 169,986,460 (GRCm39) T174M probably damaging Het
Vmn2r13 T C 5: 109,304,398 (GRCm39) T678A probably damaging Het
Vmn2r84 A T 10: 130,222,556 (GRCm39) C555S probably damaging Het
Vps13d T C 4: 144,894,889 (GRCm39) probably null Het
Vps8 T C 16: 21,254,573 (GRCm39) probably null Het
Wee1 A G 7: 109,738,899 (GRCm39) N590S probably damaging Het
Zfp112 C A 7: 23,825,103 (GRCm39) S357Y probably damaging Het
Zfp423 T A 8: 88,586,080 (GRCm39) K48* probably null Het
Zscan4d A G 7: 10,896,692 (GRCm39) V226A probably benign Het
Other mutations in Gm5093
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0690:Gm5093 UTSW 17 46,750,664 (GRCm39) missense possibly damaging 0.53
R1436:Gm5093 UTSW 17 46,750,680 (GRCm39) missense probably damaging 1.00
R1453:Gm5093 UTSW 17 46,750,622 (GRCm39) missense probably benign 0.02
R5187:Gm5093 UTSW 17 46,750,799 (GRCm39) missense possibly damaging 0.82
R5747:Gm5093 UTSW 17 46,750,916 (GRCm39) missense possibly damaging 0.89
R6182:Gm5093 UTSW 17 46,750,568 (GRCm39) missense probably benign 0.05
R7216:Gm5093 UTSW 17 46,751,014 (GRCm39) missense not run
R7456:Gm5093 UTSW 17 46,750,679 (GRCm39) missense probably damaging 0.99
R7698:Gm5093 UTSW 17 46,750,866 (GRCm39) missense possibly damaging 0.89
Posted On 2016-08-02