Incidental Mutation 'R5126:Tmem208'
ID 393553
Institutional Source Beutler Lab
Gene Symbol Tmem208
Ensembl Gene ENSMUSG00000014856
Gene Name transmembrane protein 208
Synonyms 2610030K20Rik, 1700006C06Rik, Hspc171
MMRRC Submission 042714-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.865) question?
Stock # R5126 (G1)
Quality Score 204
Status Not validated
Chromosome 8
Chromosomal Location 106052986-106061851 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106061282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 103 (F103I)
Ref Sequence ENSEMBL: ENSMUSP00000096052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014922] [ENSMUST00000098453] [ENSMUST00000109372]
AlphaFold Q9CR96
Predicted Effect probably benign
Transcript: ENSMUST00000014922
SMART Domains Protein: ENSMUSP00000014922
Gene: ENSMUSG00000014778

DomainStartEndE-ValueType
PDB:3DAD|B 1 339 N/A PDB
Blast:Drf_GBD 85 216 1e-48 BLAST
SCOP:d1ee4a_ 120 240 4e-4 SMART
Blast:FH2 231 318 6e-38 BLAST
low complexity region 342 357 N/A INTRINSIC
Blast:FH2 386 483 2e-10 BLAST
low complexity region 514 532 N/A INTRINSIC
low complexity region 573 643 N/A INTRINSIC
FH2 648 1100 3.16e-121 SMART
low complexity region 1119 1130 N/A INTRINSIC
Blast:FH2 1135 1179 1e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000098453
AA Change: F103I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000096052
Gene: ENSMUSG00000014856
AA Change: F103I

DomainStartEndE-ValueType
Pfam:DUF788 7 103 3.7e-29 PFAM
low complexity region 118 133 N/A INTRINSIC
low complexity region 135 149 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109372
SMART Domains Protein: ENSMUSP00000104997
Gene: ENSMUSG00000014856

DomainStartEndE-ValueType
Pfam:DUF788 7 103 4.2e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134837
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136439
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly conserved protein which is localized in the endoplasmic reticulum (ER). The protein is linked to autophagy and ER stress. Knockdown of this gene increased autophagy and triggered ER stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 G A 2: 26,886,927 (GRCm39) probably null Het
Ahdc1 T A 4: 132,790,833 (GRCm39) F691L probably benign Het
Ahsa2 T A 11: 23,441,036 (GRCm39) I202F possibly damaging Het
Akap10 C T 11: 61,807,015 (GRCm39) A72T probably damaging Het
Ccnb1 C G 13: 100,918,283 (GRCm39) Q121H possibly damaging Het
Cep164 A G 9: 45,698,722 (GRCm39) probably null Het
Cltc A G 11: 86,603,495 (GRCm39) V781A probably damaging Het
Dchs1 A G 7: 105,402,724 (GRCm39) S3273P probably damaging Het
Dnajc16 C A 4: 141,501,820 (GRCm39) V337L probably benign Het
Fstl4 T C 11: 53,077,388 (GRCm39) V715A possibly damaging Het
Grik1 C T 16: 87,744,747 (GRCm39) G502S probably damaging Het
Ifi213 A G 1: 173,417,581 (GRCm39) V277A possibly damaging Het
Ints15 G T 5: 143,293,701 (GRCm39) P259T probably benign Het
Jph3 T C 8: 122,479,787 (GRCm39) V155A possibly damaging Het
Katnal2 T C 18: 77,105,294 (GRCm39) E51G probably benign Het
Kcna2 T A 3: 107,011,550 (GRCm39) F44I probably damaging Het
Kcna6 T C 6: 126,715,695 (GRCm39) E398G probably damaging Het
Kif15 A T 9: 122,804,823 (GRCm39) H190L probably damaging Het
Lmbrd2 A G 15: 9,194,788 (GRCm39) R597G possibly damaging Het
Lrtm2 T A 6: 119,294,400 (GRCm39) M244L probably benign Het
Ly6c2 A C 15: 74,983,492 (GRCm39) S9A possibly damaging Het
Mbd4 T A 6: 115,825,929 (GRCm39) probably null Het
Mfsd2b A G 12: 4,916,183 (GRCm39) I269T probably benign Het
Muc6 A T 7: 141,237,564 (GRCm39) C218S probably damaging Het
Nlrc5 G T 8: 95,201,299 (GRCm39) R131L possibly damaging Het
Nlrp1b A T 11: 71,072,359 (GRCm39) C495S possibly damaging Het
Nsf C A 11: 103,773,618 (GRCm39) E299* probably null Het
Obscn T A 11: 58,967,889 (GRCm39) E336D probably damaging Het
Or14j9 G T 17: 37,874,719 (GRCm39) T161K probably benign Het
Pan3 A G 5: 147,464,008 (GRCm39) N587S probably benign Het
Pgap6 T C 17: 26,340,614 (GRCm39) I666T probably damaging Het
Plch2 T C 4: 155,084,976 (GRCm39) D321G probably damaging Het
Plscr4 G A 9: 92,370,794 (GRCm39) D254N probably damaging Het
Pnma8a A C 7: 16,695,242 (GRCm39) M366L probably benign Het
Pnpla7 G T 2: 24,870,056 (GRCm39) C12F possibly damaging Het
Ptprk G T 10: 28,451,640 (GRCm39) probably null Het
Rgs22 A G 15: 36,040,790 (GRCm39) V899A probably damaging Het
Ruvbl1 T A 6: 88,462,883 (GRCm39) C336S probably benign Het
Slc27a5 T A 7: 12,725,247 (GRCm39) H400L probably damaging Het
Slc66a1 T C 4: 139,029,843 (GRCm39) T63A probably benign Het
Slco1a4 A T 6: 141,761,308 (GRCm39) V435D possibly damaging Het
Snx14 A T 9: 88,264,152 (GRCm39) Y818N probably damaging Het
Tln2 A G 9: 67,165,817 (GRCm39) I2098T probably damaging Het
Tlr11 T C 14: 50,598,287 (GRCm39) L91P probably damaging Het
Vmn2r3 C T 3: 64,166,740 (GRCm39) C797Y probably damaging Het
Vwde T A 6: 13,187,259 (GRCm39) M743L probably benign Het
Wdcp C A 12: 4,900,617 (GRCm39) R158S probably damaging Het
Zfp773 T C 7: 7,139,623 (GRCm39) T9A unknown Het
Other mutations in Tmem208
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02552:Tmem208 APN 8 106,055,329 (GRCm39) splice site probably null
Agog UTSW 8 106,055,257 (GRCm39) missense probably damaging 1.00
excited UTSW 8 106,055,063 (GRCm39) missense probably damaging 1.00
R0066:Tmem208 UTSW 8 106,054,857 (GRCm39) missense probably benign 0.38
R0164:Tmem208 UTSW 8 106,061,326 (GRCm39) missense probably benign 0.01
R0164:Tmem208 UTSW 8 106,061,326 (GRCm39) missense probably benign 0.01
R0566:Tmem208 UTSW 8 106,061,475 (GRCm39) missense probably benign 0.00
R1569:Tmem208 UTSW 8 106,061,462 (GRCm39) missense possibly damaging 0.66
R1860:Tmem208 UTSW 8 106,061,438 (GRCm39) missense possibly damaging 0.66
R1861:Tmem208 UTSW 8 106,061,438 (GRCm39) missense possibly damaging 0.66
R4836:Tmem208 UTSW 8 106,055,296 (GRCm39) missense probably damaging 1.00
R5352:Tmem208 UTSW 8 106,055,063 (GRCm39) missense probably damaging 1.00
R6862:Tmem208 UTSW 8 106,054,862 (GRCm39) critical splice donor site probably null
R7289:Tmem208 UTSW 8 106,061,418 (GRCm39) missense possibly damaging 0.66
R7784:Tmem208 UTSW 8 106,055,465 (GRCm39) missense possibly damaging 0.50
R8274:Tmem208 UTSW 8 106,055,257 (GRCm39) missense probably damaging 1.00
R9472:Tmem208 UTSW 8 106,055,027 (GRCm39) missense probably damaging 1.00
R9765:Tmem208 UTSW 8 106,061,506 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- CTCTGAGTTTGAGGTCAGCC -3'
(R):5'- AGACACCACCGTTGACATGC -3'

Sequencing Primer
(F):5'- AGGTCAGCCTGGTCTACAG -3'
(R):5'- GACATGCCTCTCTCTTCAGAGC -3'
Posted On 2016-06-15