Incidental Mutation 'IGL03060:Tmed9'
ID409408
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: 0.275) question?
Stock #IGL03060
Quality Score
Status
Chromosome13
Chromosomal Location55573732-55597697 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55595508 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 151 (D151G)
Ref Sequence ENSEMBL: ENSMUSP00000105531 (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 possibly damaging
Transcript: ENSMUST00000109905
AA Change: D151G

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105531
Gene: ENSMUSG00000058569
AA Change: D151G

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 benign
Transcript: ENSMUST00000224741
AA Change: D125G

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l2 G A 19: 56,914,250 Q720* probably null Het
Amph A G 13: 19,094,814 E153G probably damaging Het
Atad2 T C 15: 58,122,446 probably benign Het
Cep152 C T 2: 125,619,987 probably benign Het
Cntn2 C T 1: 132,528,940 V123I probably benign Het
Dhrs2 C A 14: 55,237,318 Q137K probably benign Het
Fam124a A G 14: 62,605,904 Y287C probably benign Het
Fam214a A G 9: 75,010,168 D683G probably damaging Het
Flg2 C T 3: 93,203,613 R983W unknown Het
Gm9637 G A 14: 19,402,173 noncoding transcript Het
Helz2 A G 2: 181,229,222 probably null Het
Iars G A 13: 49,690,447 probably null Het
Igll1 A T 16: 16,862,427 probably null Het
Iqch A G 9: 63,524,914 Y361H probably damaging Het
Lrp1b A T 2: 40,637,753 H105Q probably benign Het
Mapk6 A G 9: 75,397,802 M111T probably damaging Het
Mettl11b T C 1: 163,717,123 D97G probably damaging Het
Mkl1 G A 15: 81,045,322 R27W probably damaging Het
Mt1 T A 8: 94,179,894 probably benign Het
Myh7b A T 2: 155,632,751 D1768V probably damaging Het
Myo6 A T 9: 80,260,877 Q441L probably benign Het
Nt5c3b A T 11: 100,436,219 Y84N probably damaging Het
Olfr389 A G 11: 73,776,463 F288S probably damaging Het
Paxx A G 2: 25,460,184 L137P probably damaging Het
Ptprz1 T C 6: 22,972,835 V248A probably damaging Het
Rif1 T A 2: 52,112,137 C1868S probably damaging Het
Sec23a A T 12: 58,986,105 C403S probably benign Het
Skint4 G A 4: 112,118,235 V131I probably benign Het
Sugp2 T C 8: 70,243,187 V270A possibly damaging Het
Tubgcp4 A G 2: 121,176,590 probably benign Het
Uaca A G 9: 60,869,866 R512G probably damaging Het
Unc80 A G 1: 66,637,010 Y1999C possibly damaging Het
Vwf T A 6: 125,663,560 C2320S probably damaging 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
IGL03323:Tmed9 APN 13 55596878 missense probably damaging 0.98
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