Incidental Mutation 'R0109:Tmed11'
ID64198
Institutional Source Beutler Lab
Gene Symbol Tmed11
Ensembl Gene ENSMUSG00000004821
Gene Nametransmembrane p24 trafficking protein 11
Synonyms1810008K16Rik
MMRRC Submission 038395-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.767) question?
Stock #R0109 (G1)
Quality Score123
Status Not validated
Chromosome5
Chromosomal Location108777235-108795363 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 108777412 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 178 (D178V)
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: D178V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000004943
Gene: ENSMUSG00000004821
AA Change: D178V

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 120,318,762 K1496* probably null Het
Anapc1 C A 2: 128,634,693 R1335L probably damaging Het
Arhgef10l A T 4: 140,578,294 S203T probably benign Het
Astn1 C T 1: 158,664,104 T41I possibly damaging Het
Avil A G 10: 127,013,644 N603S probably benign Het
Brca1 T C 11: 101,531,090 D149G possibly damaging Het
Col19a1 A C 1: 24,559,768 probably null Het
Cps1 T C 1: 67,229,418 V1435A possibly damaging Het
Cyp2j6 A T 4: 96,518,157 I459N probably damaging Het
Cyth1 T C 11: 118,182,306 E242G probably damaging Het
Dclk3 T G 9: 111,467,670 L94R possibly damaging Het
Dsg3 T C 18: 20,540,134 V954A probably damaging Het
Dync2h1 T A 9: 7,111,487 D309V probably damaging Het
Efhd2 A G 4: 141,874,567 F101L probably benign Het
Fgd5 T A 6: 91,988,235 M325K possibly damaging Het
Fras1 T C 5: 96,710,077 S2077P probably benign Het
Frmpd1 A T 4: 45,279,340 E688D probably benign Het
Hspg2 T C 4: 137,562,201 V3824A probably benign Het
Kctd16 A G 18: 40,259,151 E264G probably benign Het
Mapk15 A T 15: 75,996,077 K153* probably null Het
Miox G A 15: 89,335,581 V91I probably benign Het
Nfyb G A 10: 82,755,002 A65V possibly damaging Het
Olfr1241 A G 2: 89,482,803 F111L probably benign Het
Olfr1442 C A 19: 12,674,860 F218L probably benign Het
Olfr646 T C 7: 104,106,605 S109P probably damaging Het
Parp9 T C 16: 35,948,341 I64T probably damaging Het
Pfkfb4 T C 9: 108,998,889 V43A probably benign Het
Pgap1 A T 1: 54,494,825 V643E probably damaging Het
Pip5k1b T A 19: 24,379,047 M176L probably benign Het
Ppfia4 A T 1: 134,324,217 probably null Het
Prdx2 G A 8: 84,970,251 G4S probably benign Het
Rin3 A G 12: 102,313,081 I50V possibly damaging Het
Rtl1 G A 12: 109,595,407 probably benign Het
Sgsm3 G C 15: 81,009,466 D434H probably damaging Het
Shank2 T C 7: 144,410,577 S634P possibly damaging Het
Sik2 A G 9: 50,899,475 M447T possibly damaging Het
Sla2 A G 2: 156,883,587 probably null Het
Spata16 T A 3: 26,913,267 F389I probably damaging Het
Srebf1 G A 11: 60,201,804 A793V probably benign Het
Traf7 A G 17: 24,513,926 F110L probably benign Het
Ttn T A 2: 76,725,564 I30366F probably damaging Het
Ubqlnl C T 7: 104,150,192 V33M probably damaging Het
Vmn1r194 A G 13: 22,245,047 Y278C probably damaging Het
Vmn2r100 C A 17: 19,522,120 P252Q possibly damaging Het
Vmn2r114 A T 17: 23,310,575 Y184* probably null Het
Vmn2r53 C T 7: 12,582,066 A609T probably damaging Het
Vps13b A G 15: 35,572,119 T961A probably benign Het
Xirp2 T A 2: 67,519,278 N3272K probably damaging Het
Zfp217 C T 2: 170,115,462 A539T probably benign Het
Zfp454 T A 11: 50,883,775 T24S possibly 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
R0725:Tmed11 UTSW 5 108778989 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'- tggctCCACAAGGGTTGAAATTGTTAC -3'
(R):5'- GATCAAATTCCTGCAATGGACACCAAAA -3'

Sequencing Primer
(F):5'- aggggaagagaaaaagagaagg -3'
(R):5'- TCCTGCAATGGACACCAAAATAAAAG -3'
Posted On2013-08-06