Incidental Mutation 'R1569:Tmem208'
ID 177121
Institutional Source Beutler Lab
Gene Symbol Tmem208
Ensembl Gene ENSMUSG00000014856
Gene Name transmembrane protein 208
Synonyms 2610030K20Rik, 1700006C06Rik, Hspc171
MMRRC Submission 039608-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.820) question?
Stock # R1569 (G1)
Quality Score 125
Status Validated
Chromosome 8
Chromosomal Location 106052986-106061851 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106061462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 163 (C163S)
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 possibly damaging
Transcript: ENSMUST00000098453
AA Change: C163S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000096052
Gene: ENSMUSG00000014856
AA Change: C163S

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.3%
Validation Efficiency 96% (72/75)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,427 (GRCm39) K166* probably null Het
Abca2 T A 2: 25,329,197 (GRCm39) N1012K probably benign Het
Ahnak T C 19: 8,981,458 (GRCm39) V914A possibly damaging Het
Akap1 T A 11: 88,724,006 (GRCm39) M833L probably benign Het
Atp2b1 T A 10: 98,823,188 (GRCm39) H249Q probably benign Het
Atp6v0a4 A G 6: 38,027,560 (GRCm39) V750A probably damaging Het
Car6 T C 4: 150,285,499 (GRCm39) Y23C probably damaging Het
Celsr3 A G 9: 108,706,267 (GRCm39) T917A probably damaging Het
Clmn C A 12: 104,747,340 (GRCm39) D736Y probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dennd4c G A 4: 86,704,331 (GRCm39) R282H possibly damaging Het
Dsg1b T A 18: 20,529,537 (GRCm39) N327K probably damaging Het
Eftud2 A T 11: 102,745,597 (GRCm39) probably benign Het
Esyt1 G T 10: 128,354,863 (GRCm39) S512R possibly damaging Het
Fam124b T C 1: 80,190,852 (GRCm39) Y177C possibly damaging Het
Fbxl5 A T 5: 43,922,803 (GRCm39) I205K probably damaging Het
Fcrl1 A G 3: 87,292,012 (GRCm39) Y57C probably damaging Het
Gabpb1 A T 2: 126,494,171 (GRCm39) D151E probably benign Het
Gcc2 C T 10: 58,105,993 (GRCm39) L310F probably benign Het
Hsd11b1 C G 1: 192,922,635 (GRCm39) E141Q probably damaging Het
Htr1b A G 9: 81,514,340 (GRCm39) V89A probably benign Het
Ibsp A T 5: 104,458,017 (GRCm39) T185S probably damaging Het
Igfn1 T C 1: 135,896,771 (GRCm39) D1265G probably benign Het
Ints9 T C 14: 65,217,571 (GRCm39) Y33H possibly damaging Het
Kif1a A T 1: 92,986,532 (GRCm39) probably benign Het
Lama1 A T 17: 68,087,613 (GRCm39) probably null Het
Lbp A T 2: 158,161,607 (GRCm39) D223V probably damaging Het
Lck C A 4: 129,449,449 (GRCm39) D283Y probably damaging Het
Lcmt2 A G 2: 120,970,309 (GRCm39) F258S probably damaging Het
Lsg1 G T 16: 30,399,823 (GRCm39) probably null Het
Maip1 T C 1: 57,452,554 (GRCm39) probably benign Het
Mark3 T G 12: 111,600,180 (GRCm39) I465S probably benign Het
Marveld2 C T 13: 100,737,506 (GRCm39) V128I probably benign Het
Mcm3ap A G 10: 76,319,022 (GRCm39) H750R possibly damaging Het
Mdn1 A T 4: 32,723,501 (GRCm39) Q2479L probably null Het
Met A T 6: 17,531,503 (GRCm39) K594* probably null Het
Pak2 G T 16: 31,856,113 (GRCm39) S241R probably damaging Het
Plxna4 T C 6: 32,162,410 (GRCm39) I1368V possibly damaging Het
Pparg T C 6: 115,416,960 (GRCm39) I51T probably benign Het
Ppp1r18 A G 17: 36,179,595 (GRCm39) E62G probably damaging Het
Prkag2 T C 5: 25,152,475 (GRCm39) S86G possibly damaging Het
Rabgap1l A T 1: 160,529,960 (GRCm39) I347K probably benign Het
Rdh1 A T 10: 127,598,941 (GRCm39) M141L probably benign Het
Rfx2 A T 17: 57,111,326 (GRCm39) I82N possibly damaging Het
Sh2b2 G A 5: 136,260,589 (GRCm39) A209V possibly damaging Het
Sh3d19 G A 3: 86,033,951 (GRCm39) R768H possibly damaging Het
Sh3rf1 C T 8: 61,837,896 (GRCm39) P814S probably damaging Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Slc15a2 T C 16: 36,576,745 (GRCm39) T430A probably benign Het
Slc17a3 A T 13: 24,039,591 (GRCm39) I250F probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spg11 A G 2: 121,932,187 (GRCm39) S552P probably damaging Het
Srpk2 A G 5: 23,719,024 (GRCm39) I597T probably damaging Het
St6galnac1 T G 11: 116,660,097 (GRCm39) N72T possibly damaging Het
Tecpr2 T A 12: 110,911,321 (GRCm39) probably null Het
Tpte T C 8: 22,835,047 (GRCm39) V401A probably damaging Het
Trhde A G 10: 114,282,093 (GRCm39) W795R possibly damaging Het
Trpm3 G A 19: 22,866,809 (GRCm39) probably null Het
Ttn T A 2: 76,626,063 (GRCm39) T14999S possibly damaging Het
Txndc2 A T 17: 65,945,921 (GRCm39) N85K probably benign Het
Yes1 A G 5: 32,810,507 (GRCm39) Y192C probably damaging Het
Zan A G 5: 137,427,392 (GRCm39) V2415A unknown Het
Zfp410 T A 12: 84,379,726 (GRCm39) C311S probably damaging Het
Zfp51 A T 17: 21,676,642 (GRCm39) M38L probably benign Het
Zfp560 A T 9: 20,260,011 (GRCm39) C284S possibly damaging Het
Zfp808 C T 13: 62,320,714 (GRCm39) R648* probably null Het
Zfp976 G T 7: 42,262,806 (GRCm39) H344N probably damaging 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
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
R5126:Tmem208 UTSW 8 106,061,282 (GRCm39) missense probably benign 0.00
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'- TGAGCATCACCCACCTGATGATCC -3'
(R):5'- GCCTGTTGGGACAACTATCTCCTTC -3'

Sequencing Primer
(F):5'- GATGATCCATCAGTGTCATCTACCG -3'
(R):5'- CTTCTGTACTTTGACCAAGAACAGC -3'
Posted On 2014-04-24