Incidental Mutation 'IGL03323:Tmed9'
ID416548
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmed9
Ensembl Gene ENSMUSG00000058569
Gene Nametransmembrane p24 trafficking protein 9
Synonyms2400003B06Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.273) question?
Stock #IGL03323
Quality Score
Status
Chromosome13
Chromosomal Location55573732-55597697 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 55596878 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 173 (T173I)
Ref Sequence ENSEMBL: ENSMUSP00000153554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064701] [ENSMUST00000100764] [ENSMUST00000109905] [ENSMUST00000133176] [ENSMUST00000224741]
Predicted Effect probably benign
Transcript: ENSMUST00000064701
SMART Domains Protein: ENSMUSP00000068532
Gene: ENSMUSG00000021504

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
transmembrane domain 29 51 N/A INTRINSIC
Pfam:Glyco_transf_7N 62 177 8.5e-27 PFAM
Pfam:Glyco_transf_7C 181 260 2.6e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100764
SMART Domains Protein: ENSMUSP00000098327
Gene: ENSMUSG00000021504

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
transmembrane domain 29 51 N/A INTRINSIC
Pfam:Glyco_transf_7N 72 180 9.2e-29 PFAM
Pfam:Glyco_transf_7C 181 263 1.3e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109905
AA Change: T199I

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105531
Gene: ENSMUSG00000058569
AA Change: T199I

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
EMP24_GP25L 37 230 2.43e-79 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133176
SMART Domains Protein: ENSMUSP00000123292
Gene: ENSMUSG00000021504

DomainStartEndE-ValueType
Pfam:Glyco_transf_7N 18 124 1.1e-28 PFAM
Pfam:Glyco_transf_7C 125 204 5e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224634
Predicted Effect probably damaging
Transcript: ENSMUST00000224741
AA Change: T173I

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225888
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a family of genes encoding transport proteins located in the endoplasmic reticulum and the Golgi. A similar gene in mouse is the target of microRNA miR-296, which is part of an imprinted cluster. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 A T 14: 103,055,294 D418V probably damaging Het
Ahdc1 G A 4: 133,065,428 G1327S probably benign Het
Bcl2l15 A T 3: 103,833,403 I62L probably benign Het
Ccdc7a A T 8: 129,058,763 D105E probably benign Het
Cldn12 C A 5: 5,508,421 G2V probably damaging Het
Eapp G T 12: 54,673,615 H272N probably damaging Het
Fcrla A G 1: 170,927,545 probably benign Het
Fmnl3 C T 15: 99,321,281 G787S probably damaging Het
Fmo5 G T 3: 97,639,007 probably null Het
Golgb1 G T 16: 36,913,453 E1021* probably null Het
Hspa4 A T 11: 53,265,133 N648K probably benign Het
Iigp1 T C 18: 60,389,824 F5L probably benign Het
Lad1 T A 1: 135,830,974 probably null Het
Man2b2 T C 5: 36,818,514 D399G probably benign Het
Mc5r C T 18: 68,339,215 T215I probably benign Het
Mx2 A G 16: 97,546,375 S156G probably damaging Het
Necap2 A T 4: 141,068,222 I242N possibly damaging Het
Nme8 C T 13: 19,688,950 E175K probably benign Het
Notch4 T A 17: 34,582,471 C1098S probably damaging Het
Olfr345 T A 2: 36,640,141 M34K possibly damaging Het
Olfr8 T C 10: 78,955,600 Y132H probably benign Het
Osbpl9 A G 4: 109,062,459 probably benign Het
Prag1 T C 8: 36,140,008 S968P probably damaging Het
Qsox2 A G 2: 26,220,979 S125P probably benign Het
Rptn A G 3: 93,397,153 T598A probably benign Het
Slc2a2 G A 3: 28,726,290 M375I probably damaging Het
Trank1 A G 9: 111,352,116 D402G probably damaging Het
Ttc21a G T 9: 119,940,536 probably benign Het
Vmn2r58 T C 7: 41,861,871 M503V probably benign Het
Other mutations in Tmed9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Tmed9 APN 13 55593521 missense probably benign 0.02
IGL02178:Tmed9 APN 13 55593295 missense possibly damaging 0.95
IGL03060:Tmed9 APN 13 55595508 missense possibly damaging 0.63
R2190:Tmed9 UTSW 13 55593343 missense probably benign 0.01
R3038:Tmed9 UTSW 13 55596979 missense probably damaging 1.00
R3413:Tmed9 UTSW 13 55595574 missense probably benign 0.01
R7298:Tmed9 UTSW 13 55593294 missense possibly damaging 0.52
R7751:Tmed9 UTSW 13 55593241 missense not run
R7800:Tmed9 UTSW 13 55595532 missense probably benign 0.03
Posted On2016-08-02