Incidental Mutation 'R0725:Tmed11'
ID218373
Institutional Source Beutler Lab
Gene Symbol Tmed11
Ensembl Gene ENSMUSG00000004821
Gene Nametransmembrane p24 trafficking protein 11
Synonyms1810008K16Rik
MMRRC Submission 038907-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.812) question?
Stock #R0725 (G1)
Quality Score65
Status Validated
Chromosome5
Chromosomal Location108777235-108795363 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 108778989 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 139 (D139V)
Ref Sequence ENSEMBL: ENSMUSP00000004943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004943] [ENSMUST00000200159] [ENSMUST00000212176] [ENSMUST00000212212]
Predicted Effect probably damaging
Transcript: ENSMUST00000004943
AA Change: D139V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004943
Gene: ENSMUSG00000004821
AA Change: D139V

DomainStartEndE-ValueType
EMP24_GP25L 17 210 1.11e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200159
Predicted Effect probably benign
Transcript: ENSMUST00000212176
Predicted Effect probably benign
Transcript: ENSMUST00000212212
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.7%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230110C19Rik A T 9: 8,027,143 D131E probably damaging Het
Asph C T 4: 9,542,275 D305N probably damaging Het
Atp13a3 T C 16: 30,351,387 K327R probably damaging Het
Cacna1s T C 1: 136,098,526 probably benign Het
Ccnk T C 12: 108,195,575 probably benign Het
Cep55 T C 19: 38,060,174 S93P possibly damaging Het
Cfh A G 1: 140,157,343 probably benign Het
Clptm1l A G 13: 73,606,343 T129A probably benign Het
Cntnap5a A G 1: 116,292,476 E672G probably benign Het
Cpped1 C A 16: 11,828,450 W170L probably damaging Het
Crygb T C 1: 65,081,941 I76V probably benign Het
Cyp3a25 A G 5: 145,994,936 S121P probably damaging Het
Cyp4b1 T C 4: 115,626,827 D395G probably damaging Het
Dll4 T C 2: 119,332,689 V597A probably damaging Het
Dock7 T C 4: 98,945,291 D1891G probably damaging Het
Dsel T C 1: 111,859,952 D951G possibly damaging Het
Dync2h1 C A 9: 7,015,497 V3603F possibly damaging Het
Fam109a T A 5: 121,853,251 H225Q probably benign Het
Fam129a A G 1: 151,706,015 E454G probably benign Het
Fam167b C A 4: 129,578,285 A31S probably damaging Het
Fgfrl1 T A 5: 108,704,673 I25N probably damaging Het
Gzf1 C T 2: 148,684,649 R347* probably null Het
Heatr5b T A 17: 78,796,396 I1117F probably benign Het
Kntc1 T C 5: 123,769,704 V456A possibly damaging Het
Macc1 C A 12: 119,447,516 S673* probably null Het
Mpp4 T C 1: 59,121,422 E574G probably damaging Het
Muc20 C T 16: 32,793,488 M506I probably benign Het
Ncbp1 A G 4: 46,152,056 T218A probably benign Het
Nfxl1 A T 5: 72,559,130 V46E probably benign Het
Nfyc G T 4: 120,768,734 probably benign Het
Olfr561 T A 7: 102,774,532 S3T probably benign Het
Olfr972 A T 9: 39,873,347 Q24L probably damaging Het
Osbpl8 T C 10: 111,286,240 F681S possibly damaging Het
Pcm1 G C 8: 41,287,811 E1031D probably damaging Het
Pdcd11 A G 19: 47,127,291 E1486G probably benign Het
Pex12 G T 11: 83,298,034 A45E probably damaging Het
Pigm A G 1: 172,376,817 D40G probably damaging Het
Pkp1 G T 1: 135,880,740 N496K probably benign Het
Psmc4 T C 7: 28,048,862 I54V probably benign Het
Rbm33 T C 5: 28,394,483 V951A unknown Het
Selenbp2 G T 3: 94,697,502 probably benign Het
Slc3a1 G A 17: 85,060,835 W510* probably null Het
Stx12 A C 4: 132,857,390 probably benign Het
Tas2r125 G T 6: 132,910,122 D158Y probably benign Het
Tchp C A 5: 114,719,621 Q392K probably benign Het
Ttn C T 2: 76,748,310 V24080M probably damaging Het
Ush2a G A 1: 188,951,525 G4967D probably damaging Het
Vezf1 T C 11: 88,073,330 S103P probably benign Het
Xpnpep3 T C 15: 81,430,842 S248P probably damaging Het
Yipf2 G C 9: 21,592,223 probably null Het
Zfp110 A T 7: 12,836,363 Q39L possibly damaging Het
Zfp287 A T 11: 62,714,213 C623S probably damaging Het
Other mutations in Tmed11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00772:Tmed11 APN 5 108786165 missense probably benign 0.00
IGL01612:Tmed11 APN 5 108779884 missense possibly damaging 0.82
R0109:Tmed11 UTSW 5 108777412 missense probably damaging 1.00
R0109:Tmed11 UTSW 5 108777412 missense probably damaging 1.00
R0836:Tmed11 UTSW 5 108795309 start codon destroyed probably null 0.47
R1195:Tmed11 UTSW 5 108779019 missense possibly damaging 0.73
R1195:Tmed11 UTSW 5 108779019 missense possibly damaging 0.73
R1195:Tmed11 UTSW 5 108779019 missense possibly damaging 0.73
R1551:Tmed11 UTSW 5 108779814 critical splice donor site probably null
R1815:Tmed11 UTSW 5 108777425 missense probably benign
R2004:Tmed11 UTSW 5 108786134 missense possibly damaging 0.48
R2121:Tmed11 UTSW 5 108795332 unclassified probably benign
R3116:Tmed11 UTSW 5 108779839 missense probably damaging 0.96
R4896:Tmed11 UTSW 5 108795182 splice site probably null
R5070:Tmed11 UTSW 5 108795223 missense probably benign 0.01
R5104:Tmed11 UTSW 5 108777276 utr 3 prime probably null
R5678:Tmed11 UTSW 5 108786165 missense probably benign 0.00
R6967:Tmed11 UTSW 5 108778914 missense probably damaging 1.00
Z1176:Tmed11 UTSW 5 108777320 missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- AGAGGCAAATGAGCCTCAATTCCC -3'
(R):5'- CTCAAGATGGTGTGGAACCTCAGTC -3'

Sequencing Primer
(F):5'- GTGAAGAAAGGTGACTCTCTCTC -3'
(R):5'- TGTGGAACCTCAGTCATGAAAG -3'
Posted On2014-08-01