Incidental Mutation 'R3413:Tmed9'
ID 267821
Institutional Source Beutler Lab
Gene Symbol Tmed9
Ensembl Gene ENSMUSG00000058569
Gene Name transmembrane p24 trafficking protein 9
Synonyms 2400003B06Rik, p24alpha2
MMRRC Submission 040631-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.278) question?
Stock # R3413 (G1)
Quality Score 165
Status Validated
Chromosome 13
Chromosomal Location 55740948-55745510 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55743387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 173 (E173G)
Ref Sequence ENSEMBL: ENSMUSP00000105531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064701] [ENSMUST00000100764] [ENSMUST00000109905] [ENSMUST00000133176] [ENSMUST00000224741]
AlphaFold Q99KF1
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 benign
Transcript: ENSMUST00000109905
AA Change: E173G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000105531
Gene: ENSMUSG00000058569
AA Change: E173G

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: E147G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225888
Meta Mutation Damage Score 0.1299 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 98% (48/49)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T C 8: 10,037,387 (GRCm39) probably benign Het
Ap2a2 T A 7: 141,178,689 (GRCm39) N105K probably benign Het
Axin1 A G 17: 26,407,012 (GRCm39) H535R probably damaging Het
Ccnb3 T A X: 6,874,040 (GRCm39) E846D probably benign Het
Cdca7 G A 2: 72,315,631 (GRCm39) G365R probably damaging Het
Clvs2 T A 10: 33,498,967 (GRCm39) probably benign Het
Coq10a A G 10: 128,200,998 (GRCm39) V93A possibly damaging Het
Ddx42 A G 11: 106,138,636 (GRCm39) T812A probably benign Het
Dnaaf6 T A X: 139,006,770 (GRCm39) N216K possibly damaging Het
Eya1 T A 1: 14,344,433 (GRCm39) probably null Het
Fcna G C 2: 25,517,505 (GRCm39) P49A probably damaging Het
Gckr T A 5: 31,458,211 (GRCm39) probably null Het
Golgb1 A G 16: 36,707,709 (GRCm39) K68E probably damaging Het
Got1l1 A G 8: 27,689,864 (GRCm39) probably null Het
Hip1 T C 5: 135,451,026 (GRCm39) E451G probably damaging Het
Hs6st2 C T X: 50,770,332 (GRCm39) V50I possibly damaging Het
Ighv1-23 C T 12: 114,728,087 (GRCm39) V112I probably benign Het
Map1s A G 8: 71,365,163 (GRCm39) N107D probably damaging Het
Mmel1 T A 4: 154,974,043 (GRCm39) V361D probably damaging Het
Myh15 A G 16: 48,959,095 (GRCm39) D989G probably benign Het
Myo1g G T 11: 6,467,870 (GRCm39) H188Q possibly damaging Het
Nup210 G T 6: 91,002,224 (GRCm39) Q755K probably benign Het
Or14j3 A G 17: 37,900,587 (GRCm39) V219A probably benign Het
Or51q1c A G 7: 103,653,039 (GRCm39) M186V probably damaging Het
Plcz1 C T 6: 139,947,807 (GRCm39) R525Q probably damaging Het
Ppef2 T G 5: 92,376,581 (GRCm39) S649R probably damaging Het
Rusc2 T G 4: 43,415,935 (GRCm39) S414A probably damaging Het
Sez6l A G 5: 112,623,227 (GRCm39) L108P possibly damaging Het
Slc1a7 A G 4: 107,868,191 (GRCm39) E497G probably benign Het
Spag8 T A 4: 43,651,606 (GRCm39) S423C probably damaging Het
Sspo C T 6: 48,457,631 (GRCm39) R3178C probably damaging Het
St6galnac1 A G 11: 116,656,682 (GRCm39) W486R probably damaging Het
Syk A G 13: 52,785,775 (GRCm39) D327G probably benign Het
Tbc1d8b C T X: 138,614,140 (GRCm39) A391V probably benign Het
Top1mt T C 15: 75,529,025 (GRCm39) N573S probably benign Het
Tusc1 C A 4: 93,223,173 (GRCm39) R162L probably damaging Het
Ubn2 A G 6: 38,475,674 (GRCm39) T1211A probably benign Het
Unc80 G A 1: 66,678,464 (GRCm39) V2082I probably benign Het
Vmn2r63 A G 7: 42,576,406 (GRCm39) F469S probably benign Het
Zfp92 C T X: 72,463,900 (GRCm39) probably benign Het
Zfyve28 C T 5: 34,357,028 (GRCm39) M723I probably benign Het
Zmynd8 A T 2: 165,657,371 (GRCm39) M533K probably damaging Het
Other mutations in Tmed9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Tmed9 APN 13 55,741,334 (GRCm39) missense probably benign 0.02
IGL02178:Tmed9 APN 13 55,741,108 (GRCm39) missense possibly damaging 0.95
IGL03060:Tmed9 APN 13 55,743,321 (GRCm39) missense possibly damaging 0.63
IGL03323:Tmed9 APN 13 55,744,691 (GRCm39) missense probably damaging 0.98
R2190:Tmed9 UTSW 13 55,741,156 (GRCm39) missense probably benign 0.01
R3038:Tmed9 UTSW 13 55,744,792 (GRCm39) missense probably damaging 1.00
R7298:Tmed9 UTSW 13 55,741,107 (GRCm39) missense possibly damaging 0.52
R7751:Tmed9 UTSW 13 55,741,054 (GRCm39) missense not run
R7800:Tmed9 UTSW 13 55,743,345 (GRCm39) missense probably benign 0.03
R8343:Tmed9 UTSW 13 55,742,617 (GRCm39) missense probably benign 0.00
R8955:Tmed9 UTSW 13 55,744,775 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- CCCATAGCATTGAGGGTGTCTC -3'
(R):5'- TTTTAGACCTGCACTCTGGC -3'

Sequencing Primer
(F):5'- GTCTCAGTGTGTGATCTGAATTTAAC -3'
(R):5'- CTGCACTCTGGCATAGGTAAGTC -3'
Posted On 2015-02-18