Incidental Mutation 'R8343:Tmed9'
ID 645038
Institutional Source Beutler Lab
Gene Symbol Tmed9
Ensembl Gene ENSMUSG00000058569
Gene Name transmembrane p24 trafficking protein 9
Synonyms 2400003B06Rik, p24alpha2
MMRRC Submission 067866-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.278) question?
Stock # R8343 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 55740948-55745510 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55742617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 129 (F129L)
Ref Sequence ENSEMBL: ENSMUSP00000105531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109905] [ENSMUST00000224741]
AlphaFold Q99KF1
Predicted Effect probably benign
Transcript: ENSMUST00000109905
AA Change: F129L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000105531
Gene: ENSMUSG00000058569
AA Change: F129L

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
EMP24_GP25L 37 230 2.43e-79 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224741
AA Change: F103L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0843 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (64/66)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T A 8: 111,767,361 (GRCm39) W156R probably damaging Het
Acvr1 T A 2: 58,364,286 (GRCm39) probably null Het
Adamts2 G T 11: 50,494,315 (GRCm39) V130L probably damaging Het
Adcy4 C T 14: 56,012,697 (GRCm39) V541I probably benign Het
Adgrl2 C T 3: 148,552,542 (GRCm39) V654I probably damaging Het
Ago3 T A 4: 126,270,721 (GRCm39) K258* probably null Het
Akap11 A T 14: 78,749,929 (GRCm39) S819R Het
Alox5ap T C 5: 149,224,419 (GRCm39) F121L probably damaging Het
Baz2b A T 2: 59,731,858 (GRCm39) M2060K probably damaging Het
Bltp3b T C 10: 89,627,281 (GRCm39) S449P probably benign Het
C030005K15Rik T C 10: 97,561,414 (GRCm39) I106V unknown Het
Carmil2 T A 8: 106,417,716 (GRCm39) S604T probably benign Het
Ccdc121rt2 C T 5: 112,598,653 (GRCm39) T400I probably benign Het
Cdhr1 T C 14: 36,813,935 (GRCm39) T164A probably benign Het
Dhx30 T C 9: 109,914,569 (GRCm39) E976G possibly damaging Het
Dnah17 C T 11: 118,005,021 (GRCm39) G788R probably benign Het
Dus2 T C 8: 106,722,645 (GRCm39) probably benign Het
Etv6 T C 6: 134,225,717 (GRCm39) V316A possibly damaging Het
Fabp9 T G 3: 10,259,085 (GRCm39) K107T possibly damaging Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,436,769 (GRCm39) probably benign Het
Gapdh A G 6: 125,140,226 (GRCm39) V92A probably benign Het
Gfy A G 7: 44,826,019 (GRCm39) L453P probably damaging Het
Gp2 C T 7: 119,042,010 (GRCm39) C505Y probably benign Het
Gtpbp8 T C 16: 44,566,676 (GRCm39) R9G probably benign Het
Hipk4 G T 7: 27,223,033 (GRCm39) R31L probably damaging Het
Htt T A 5: 35,063,068 (GRCm39) M2900K probably damaging Het
Ighv1-20 T C 12: 114,687,810 (GRCm39) I6V probably benign Het
Il17d C T 14: 57,779,937 (GRCm39) T153I probably damaging Het
Izumo3 T A 4: 92,034,581 (GRCm39) N117I probably damaging Het
Kcnh7 T C 2: 62,680,879 (GRCm39) D236G probably benign Het
Kmt2d T C 15: 98,750,478 (GRCm39) D2405G unknown Het
Map4k2 T C 19: 6,396,596 (GRCm39) W533R probably damaging Het
Matn1 C A 4: 130,673,300 (GRCm39) Y89* probably null Het
Mettl18 T A 1: 163,824,509 (GRCm39) Y277N probably damaging Het
Muc5b G A 7: 141,417,898 (GRCm39) G3615S probably benign Het
Mycbp2 A C 14: 103,398,111 (GRCm39) probably null Het
Myh4 T A 11: 67,143,390 (GRCm39) S1041T possibly damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naaladl1 T C 19: 6,159,703 (GRCm39) V378A possibly damaging Het
Nars1 T C 18: 64,637,458 (GRCm39) D374G probably benign Het
Neb C T 2: 52,198,283 (GRCm39) probably null Het
Neurl1b A G 17: 26,650,965 (GRCm39) Y79C probably damaging Het
Nynrin A G 14: 56,101,248 (GRCm39) T306A probably benign Het
Ola1 G T 2: 73,029,745 (GRCm39) R125S probably damaging Het
Or12d15 T A 17: 37,694,122 (GRCm39) F221L probably benign Het
Or51a43 A T 7: 103,717,383 (GRCm39) V285D probably damaging Het
Pak1ip1 C A 13: 41,158,214 (GRCm39) T29K probably benign Het
Podnl1 T A 8: 84,857,402 (GRCm39) L337H Het
Rictor T G 15: 6,807,800 (GRCm39) probably null Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Sel1l2 T C 2: 140,072,753 (GRCm39) I627M probably benign Het
Sh3rf2 T C 18: 42,244,493 (GRCm39) S352P probably damaging Het
Slc6a6 G A 6: 91,703,224 (GRCm39) W199* probably null Het
Smc2 T A 4: 52,450,965 (GRCm39) V261E probably benign Het
Sorcs3 G A 19: 48,692,808 (GRCm39) probably null Het
Spdye4a T A 5: 143,211,562 (GRCm39) M1L probably benign Het
Stag1 T C 9: 100,639,819 (GRCm39) I125T possibly damaging Het
Stx8 T A 11: 67,911,814 (GRCm39) D177E probably benign Het
Sun2 T C 15: 79,623,125 (GRCm39) Y71C probably damaging Het
Tmem216 T A 19: 10,529,336 (GRCm39) T17S probably benign Het
Tmpo A T 10: 90,997,974 (GRCm39) N604K probably benign Het
Tmprss11f T A 5: 86,681,666 (GRCm39) I196F probably benign Het
Tnks A G 8: 35,301,738 (GRCm39) F1244L probably benign Het
Tspan2 T C 3: 102,676,226 (GRCm39) C212R probably damaging Het
Tspan4 A G 7: 141,071,718 (GRCm39) D155G probably damaging Het
Ttc6 T C 12: 57,707,282 (GRCm39) F730L possibly damaging Het
Txnrd2 G A 16: 18,245,291 (GRCm39) A33T unknown Het
Wnk1 C T 6: 119,940,454 (GRCm39) R761H probably damaging Het
Zfp217 T C 2: 169,962,024 (GRCm39) D101G probably damaging Het
Zfp281 T C 1: 136,555,620 (GRCm39) F866S 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
R7800:Tmed9 UTSW 13 55,743,345 (GRCm39) missense probably benign 0.03
R8955:Tmed9 UTSW 13 55,744,775 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- CCTTTAGTGCTGTGACGTGC -3'
(R):5'- CTGATCAGTCACTATGCCCTG -3'

Sequencing Primer
(F):5'- CAGACTCTTGTGGTACTCAGAGC -3'
(R):5'- GATCAGTCACTATGCCCTGTATGC -3'
Posted On 2020-09-02