Incidental Mutation 'R7800:Tmed9'
ID 600495
Institutional Source Beutler Lab
Gene Symbol Tmed9
Ensembl Gene ENSMUSG00000058569
Gene Name transmembrane p24 trafficking protein 9
Synonyms 2400003B06Rik, p24alpha2
MMRRC Submission 045855-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.278) question?
Stock # R7800 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 55740948-55745510 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55743345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 159 (D159G)
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: D159G

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000105531
Gene: ENSMUSG00000058569
AA Change: D159G

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 possibly damaging
Transcript: ENSMUST00000224741
AA Change: D133G

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 96% (47/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,078,698 (GRCm39) D1264G probably benign Het
Ace T C 11: 105,876,884 (GRCm39) F1122S probably damaging Het
Actr10 T G 12: 70,990,283 (GRCm39) Y112D probably benign Het
Cacnb1 T G 11: 97,900,121 (GRCm39) I346L possibly damaging Het
Camsap2 T C 1: 136,209,639 (GRCm39) T607A probably damaging Het
Cby3 T C 11: 50,250,175 (GRCm39) F32S probably damaging Het
Cers5 G T 15: 99,634,122 (GRCm39) H409N probably benign Het
Ces1h A T 8: 94,106,322 (GRCm39) L11H Het
Clcnkb T C 4: 141,141,833 (GRCm39) Y51C probably benign Het
Cnnm2 A G 19: 46,866,420 (GRCm39) E856G probably benign Het
Cnot1 A G 8: 96,491,690 (GRCm39) V378A probably benign Het
Crisp4 A C 1: 18,198,973 (GRCm39) S154A probably benign Het
Disp1 C T 1: 182,880,550 (GRCm39) R241Q probably benign Het
Ermard G A 17: 15,277,065 (GRCm39) R429H probably benign Het
Extl1 C T 4: 134,098,929 (GRCm39) G34D probably benign Het
Gen1 T C 12: 11,291,863 (GRCm39) D707G probably benign Het
H1f3 C A 13: 23,739,541 (GRCm39) T93N possibly damaging Het
Igkv5-37 A C 6: 69,940,499 (GRCm39) S48R possibly damaging Het
Ilvbl C T 10: 78,419,809 (GRCm39) A571V possibly damaging Het
Itgb1 A G 8: 129,439,718 (GRCm39) K136E possibly damaging Het
Lhx8 A G 3: 154,027,284 (GRCm39) F253L probably damaging Het
Naa25 A G 5: 121,562,594 (GRCm39) T459A possibly damaging Het
Nr3c2 A G 8: 77,636,621 (GRCm39) Y574C probably damaging Het
Nrxn1 C T 17: 91,396,635 (GRCm39) probably benign Het
Ntrk3 T A 7: 77,952,488 (GRCm39) R576S probably benign Het
Nup210l A G 3: 90,041,904 (GRCm39) Y403C probably damaging Het
Or2ag12 A G 7: 106,276,781 (GRCm39) V304A probably benign Het
Or8b53 T G 9: 38,667,914 (GRCm39) L310W probably damaging Het
Otogl T A 10: 107,722,376 (GRCm39) Y326F probably damaging Het
Pcdha1 T A 18: 37,064,426 (GRCm39) D363E probably damaging Het
Pcdhb3 T A 18: 37,434,974 (GRCm39) N313K probably benign Het
Pcdhb9 A C 18: 37,534,602 (GRCm39) S199R probably benign Het
Pde4dip C T 3: 97,622,599 (GRCm39) D1537N probably damaging Het
Pinx1 A G 14: 64,156,984 (GRCm39) K304E probably benign Het
Pnlip T C 19: 58,670,134 (GRCm39) V458A probably benign Het
Polr3a C A 14: 24,534,455 (GRCm39) M60I probably null Het
Qrich2 G T 11: 116,347,686 (GRCm39) S1046* probably null Het
Rigi T C 4: 40,211,618 (GRCm39) E650G probably benign Het
Rps6ka5 G A 12: 100,524,824 (GRCm39) P638S probably damaging Het
Slc6a13 T A 6: 121,298,658 (GRCm39) N158K probably damaging Het
Sord T C 2: 122,089,561 (GRCm39) V187A probably damaging Het
Sult2a2 A G 7: 13,468,710 (GRCm39) T59A probably benign Het
Thbs2 T C 17: 14,896,558 (GRCm39) D777G probably damaging Het
Trbc1 A G 6: 41,516,195 (GRCm39) I142V Het
Usp17ld A G 7: 102,900,041 (GRCm39) V297A probably damaging Het
Vmn1r167 A T 7: 23,204,069 (GRCm39) *316R probably null Het
Wdr59 C A 8: 112,248,570 (GRCm39) R15L Het
Zfp189 C T 4: 49,529,367 (GRCm39) P157S possibly damaging Het
Zfp407 C T 18: 84,578,800 (GRCm39) G771D 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
R3413:Tmed9 UTSW 13 55,743,387 (GRCm39) missense probably benign 0.01
R7298:Tmed9 UTSW 13 55,741,107 (GRCm39) missense possibly damaging 0.52
R7751:Tmed9 UTSW 13 55,741,054 (GRCm39) missense not run
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'- CCATAGCATTGAGGGTGTCTC -3'
(R):5'- ACTCTGGCATAGGTAAGTCCC -3'

Sequencing Primer
(F):5'- GTCTCAGTGTGTGATCTGAATTTAAC -3'
(R):5'- GTAAGTCCCCTGGGCTTCCATAAAG -3'
Posted On 2019-11-26