Incidental Mutation 'R0653:Tmed6'
ID261996
Institutional Source Beutler Lab
Gene Symbol Tmed6
Ensembl Gene ENSMUSG00000031919
Gene Nametransmembrane p24 trafficking protein 6
Synonyms1810018I24Rik, 1810015P03Rik
MMRRC Submission 038838-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0653 (G1)
Quality Score96
Status Not validated
Chromosome8
Chromosomal Location107061476-107065644 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 107065651 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034392] [ENSMUST00000034393] [ENSMUST00000068388] [ENSMUST00000068421] [ENSMUST00000133925]
Predicted Effect probably benign
Transcript: ENSMUST00000034392
SMART Domains Protein: ENSMUSP00000034392
Gene: ENSMUSG00000031917

DomainStartEndE-ValueType
PUA 95 170 4.36e-20 SMART
Predicted Effect probably null
Transcript: ENSMUST00000034393
SMART Domains Protein: ENSMUSP00000034393
Gene: ENSMUSG00000031919

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
EMP24_GP25L 43 228 1.87e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000068388
SMART Domains Protein: ENSMUSP00000065586
Gene: ENSMUSG00000031921

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
low complexity region 47 75 N/A INTRINSIC
low complexity region 77 96 N/A INTRINSIC
Pfam:TRF 97 297 7.5e-39 PFAM
PDB:3K6G|F 318 356 2e-12 PDB
SANT 422 473 1.71e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000068421
SMART Domains Protein: ENSMUSP00000068948
Gene: ENSMUSG00000031921

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
low complexity region 47 75 N/A INTRINSIC
low complexity region 77 96 N/A INTRINSIC
Pfam:TRF 97 296 3e-38 PFAM
Pfam:TERF2_RBM 320 360 5.1e-22 PFAM
SANT 487 538 1.71e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133925
SMART Domains Protein: ENSMUSP00000118759
Gene: ENSMUSG00000031921

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
low complexity region 47 75 N/A INTRINSIC
low complexity region 77 96 N/A INTRINSIC
Pfam:TRF 97 297 9.9e-39 PFAM
PDB:3K6G|F 318 358 3e-14 PDB
SANT 486 537 1.71e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142616
SMART Domains Protein: ENSMUSP00000118589
Gene: ENSMUSG00000031921

DomainStartEndE-ValueType
Pfam:TRF 1 178 2.6e-34 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T A 11: 72,175,545 R612* probably null Het
Adgra1 A G 7: 139,876,147 T564A probably damaging Het
Akr1c18 A T 13: 4,145,308 D50E probably damaging Het
Atg9a C A 1: 75,190,328 L26F probably damaging Het
Atp11b A G 3: 35,839,194 T899A probably damaging Het
Atxn2 A G 5: 121,772,778 E358G probably damaging Het
Bmp3 A G 5: 98,872,111 Y131C probably damaging Het
Brip1 T C 11: 86,152,658 E360G possibly damaging Het
Casd1 A T 6: 4,608,075 I76L probably benign Het
Casq2 G A 3: 102,113,166 probably null Het
Ccdc185 T A 1: 182,747,564 Q520L possibly damaging Het
Cenpf T C 1: 189,659,986 K550E probably damaging Het
Ciz1 T C 2: 32,372,406 S521P probably damaging Het
Clstn2 A T 9: 97,458,204 V705E probably damaging Het
Dagla A G 19: 10,248,425 Y792H probably damaging Het
Dgke A T 11: 89,060,169 C73S probably benign Het
Egflam A G 15: 7,250,028 probably null Het
Farp1 T C 14: 121,233,846 probably null Het
Fos A G 12: 85,476,016 E234G probably benign Het
Gtf3c5 A T 2: 28,577,996 M151K probably benign Het
Hgs G A 11: 120,469,078 R36H probably damaging Het
Lats2 G A 14: 57,700,196 Q279* probably null Het
Lysmd4 T A 7: 67,226,040 D150E probably benign Het
Mex3b A G 7: 82,869,034 K186E probably damaging Het
Myo9a A C 9: 59,924,991 Q2601P probably damaging Het
Nckap5l C A 15: 99,423,246 V1218F probably damaging Het
Nr5a2 A G 1: 136,948,805 V40A probably benign Het
Obscn C A 11: 59,007,708 probably benign Het
Olfr1219 A G 2: 89,074,464 I209T possibly damaging Het
Olfr1389 C A 11: 49,431,251 Y258* probably null Het
Olfr967 A G 9: 39,750,638 N84S probably benign Het
Pclo T A 5: 14,682,255 probably benign Het
Reln T C 5: 21,913,230 I2939V probably benign Het
Rtn4 A T 11: 29,707,256 K470I probably damaging Het
Sbno1 A G 5: 124,386,892 I1050T possibly damaging Het
Scaf11 G T 15: 96,418,641 S17* probably null Het
Scn9a A T 2: 66,533,377 N841K probably damaging Het
Slc35e3 C A 10: 117,740,806 E207* probably null Het
Slc6a20b A G 9: 123,597,312 F503L probably damaging Het
Spag16 G T 1: 69,870,345 K200N probably damaging Het
Supt6 G T 11: 78,226,015 Q604K probably benign Het
Taok1 A G 11: 77,578,724 probably null Het
Tjp1 A T 7: 65,314,755 H889Q probably damaging Het
Tsen54 A T 11: 115,815,061 E68V probably damaging Het
Ttn A G 2: 76,729,534 S21181P probably damaging Het
Ube2cbp A T 9: 86,451,990 M33K possibly damaging Het
Umodl1 C A 17: 30,984,028 Q452K probably benign Het
Wif1 G T 10: 121,099,799 A354S probably benign Het
Wnk2 A G 13: 49,057,016 F1788L possibly damaging Het
Zfhx3 A T 8: 108,946,808 I1497F possibly damaging Het
Zfp217 C T 2: 170,115,462 A539T probably benign Het
Zfp30 G A 7: 29,792,753 R225Q probably damaging Het
Zfp72 T C 13: 74,372,071 E296G probably damaging Het
Zfp874b A G 13: 67,474,933 F86S possibly damaging Het
Zfyve19 A G 2: 119,211,215 S88G probably benign Het
Other mutations in Tmed6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02447:Tmed6 APN 8 107065608 missense possibly damaging 0.85
FR4589:Tmed6 UTSW 8 107061598 nonsense probably null
R0077:Tmed6 UTSW 8 107065566 missense probably damaging 0.98
R0718:Tmed6 UTSW 8 107061724 missense probably damaging 1.00
R0750:Tmed6 UTSW 8 107061769 missense possibly damaging 0.87
R1497:Tmed6 UTSW 8 107064122 missense probably benign 0.05
R3016:Tmed6 UTSW 8 107065437 missense probably damaging 1.00
R4589:Tmed6 UTSW 8 107064161 missense probably benign 0.31
R4754:Tmed6 UTSW 8 107063730 missense probably damaging 0.99
R5860:Tmed6 UTSW 8 107064154 missense probably damaging 1.00
R5861:Tmed6 UTSW 8 107064154 missense probably damaging 1.00
R5862:Tmed6 UTSW 8 107064154 missense probably damaging 1.00
R5941:Tmed6 UTSW 8 107064154 missense probably damaging 1.00
R6177:Tmed6 UTSW 8 107065451 missense probably damaging 0.98
R6225:Tmed6 UTSW 8 107061739 missense probably damaging 0.98
RF034:Tmed6 UTSW 8 107061596 frame shift probably null
RF043:Tmed6 UTSW 8 107061596 frame shift probably null
Predicted Primers
Posted On2015-02-04