Incidental Mutation 'IGL01472:Tmed3'
ID88309
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmed3
Ensembl Gene ENSMUSG00000032353
Gene Nametransmembrane p24 trafficking protein 3
Synonyms1200002G13Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock #IGL01472
Quality Score
Status
Chromosome9
Chromosomal Location89699206-89705068 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89702875 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 109 (E109G)
Ref Sequence ENSEMBL: ENSMUSP00000058723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058488]
Predicted Effect probably benign
Transcript: ENSMUST00000058488
AA Change: E109G

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000058723
Gene: ENSMUSG00000032353
AA Change: E109G

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
EMP24_GP25L 32 210 1.23e-66 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188808
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 G A 7: 119,554,536 probably null Het
Adamts4 T C 1: 171,252,850 F324S probably damaging Het
Alg10b T A 15: 90,227,697 L248Q possibly damaging Het
Antxr2 T A 5: 98,027,499 T90S probably benign Het
Arhgap21 C T 2: 20,849,581 E1657K probably damaging Het
Atp13a5 T G 16: 29,275,423 D803A probably damaging Het
Bzw2 T C 12: 36,109,796 D185G probably damaging Het
Camta2 A G 11: 70,684,124 S62P probably damaging Het
Cep85 T C 4: 134,134,166 Q599R possibly damaging Het
Chsy3 G A 18: 59,176,367 V231I probably damaging Het
Cnbd2 C T 2: 156,375,348 R457W probably damaging Het
Col20a1 A G 2: 181,007,832 T1036A probably benign Het
Colgalt2 T C 1: 152,506,878 Y494H probably damaging Het
Cox15 G T 19: 43,743,665 Y237* probably null Het
Cpne9 C A 6: 113,293,022 S281Y possibly damaging Het
D830013O20Rik G A 12: 73,364,316 noncoding transcript Het
Dnah5 C T 15: 28,331,726 R2153C probably damaging Het
Fam228a A G 12: 4,715,610 I267T possibly damaging Het
Fat4 G A 3: 38,888,070 A371T probably damaging Het
Gm1818 T C 12: 48,556,289 noncoding transcript Het
Gm5592 T C 7: 41,286,074 probably benign Het
Golga4 C A 9: 118,532,574 L207I probably damaging Het
Gtf3c1 A G 7: 125,651,054 probably benign Het
Hao1 C T 2: 134,554,230 E35K probably benign Het
Iqch T C 9: 63,547,934 I194V probably benign Het
Ism1 A T 2: 139,757,303 T392S probably damaging Het
Lcmt1 A G 7: 123,428,153 Y313C probably damaging Het
Loxl4 A G 19: 42,597,549 C718R probably damaging Het
Lyar T G 5: 38,224,722 I16R possibly damaging Het
Map3k20 T C 2: 72,355,553 probably benign Het
Mtus1 T C 8: 41,002,412 T941A probably benign Het
Myh8 A G 11: 67,288,379 probably benign Het
Myof T C 19: 37,923,076 D1482G probably benign Het
Nr4a3 C A 4: 48,071,133 A534D probably damaging Het
Oas1c A G 5: 120,802,921 V269A probably damaging Het
Odf2 T A 2: 29,893,059 S5T probably damaging Het
Olfr1163 T A 2: 88,070,978 T135S possibly damaging Het
Olfr1412 T A 1: 92,588,972 M214K possibly damaging Het
Olfr481 T C 7: 108,081,204 S137P probably benign Het
Pbk A G 14: 65,816,710 T235A probably benign Het
Phrf1 T C 7: 141,256,490 probably benign Het
Prkci A G 3: 31,050,192 D568G probably damaging Het
Prom2 T A 2: 127,532,882 Y578F probably benign Het
Prph T C 15: 99,058,593 probably benign Het
Ryr3 A G 2: 112,672,248 V3527A probably benign Het
Scn10a C T 9: 119,617,763 V1400I probably damaging Het
Slc10a2 A G 8: 5,091,652 L244P probably damaging Het
Tardbp A G 4: 148,622,064 V96A probably benign Het
Tbc1d4 C A 14: 101,489,864 E504* probably null Het
Tnc C T 4: 64,006,419 R1014H probably benign Het
Tpcn2 C T 7: 145,267,378 R313Q probably damaging Het
Trim45 A G 3: 100,928,065 T455A probably benign Het
Txlna A G 4: 129,632,115 I313T probably damaging Het
Vmn1r202 A T 13: 22,501,989 I86K possibly damaging Het
Vmn2r14 C A 5: 109,216,314 E579* probably null Het
Wrn T A 8: 33,329,172 I8F possibly damaging Het
Zc3h18 A G 8: 122,416,657 probably benign Het
Zfyve26 A T 12: 79,276,343 H876Q probably benign Het
Znrf2 C T 6: 54,863,972 T177I probably damaging Het
Other mutations in Tmed3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01978:Tmed3 APN 9 89704753 missense probably benign 0.00
R0359:Tmed3 UTSW 9 89699789 missense possibly damaging 0.84
R0399:Tmed3 UTSW 9 89702873 missense possibly damaging 0.91
R1549:Tmed3 UTSW 9 89699945 missense probably damaging 1.00
R1707:Tmed3 UTSW 9 89702780 missense probably damaging 1.00
R4287:Tmed3 UTSW 9 89704898 missense probably benign 0.23
R5080:Tmed3 UTSW 9 89699772 nonsense probably null
R5151:Tmed3 UTSW 9 89699772 nonsense probably null
R5153:Tmed3 UTSW 9 89699772 nonsense probably null
R6750:Tmed3 UTSW 9 89699790 missense probably damaging 1.00
Z1176:Tmed3 UTSW 9 89704846 missense probably benign
Z1177:Tmed3 UTSW 9 89699909 missense possibly damaging 0.93
Posted On2013-11-18