Incidental Mutation 'R0019:Tmem108'
ID 19046
Institutional Source Beutler Lab
Gene Symbol Tmem108
Ensembl Gene ENSMUSG00000042757
Gene Name transmembrane protein 108
Synonyms B130017P16Rik
MMRRC Submission 038314-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0019 (G1)
Quality Score
Status Validated
Chromosome 9
Chromosomal Location 103360146-103639036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103366539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 484 (V484D)
Ref Sequence ENSEMBL: ENSMUSP00000140027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049452] [ENSMUST00000189066] [ENSMUST00000189588]
AlphaFold Q8BHE4
Predicted Effect possibly damaging
Transcript: ENSMUST00000049452
AA Change: V484D

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046021
Gene: ENSMUSG00000042757
AA Change: V484D

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:TMEM108 61 574 1.6e-275 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144420
Predicted Effect possibly damaging
Transcript: ENSMUST00000189066
AA Change: V484D

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141160
Gene: ENSMUSG00000042757
AA Change: V484D

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 132 179 N/A INTRINSIC
low complexity region 292 314 N/A INTRINSIC
low complexity region 391 410 N/A INTRINSIC
transmembrane domain 468 490 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000189588
AA Change: V484D

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140027
Gene: ENSMUSG00000042757
AA Change: V484D

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 132 179 N/A INTRINSIC
low complexity region 292 314 N/A INTRINSIC
low complexity region 391 410 N/A INTRINSIC
transmembrane domain 468 490 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215604
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216712
Meta Mutation Damage Score 0.5751 question?
Coding Region Coverage
  • 1x: 83.5%
  • 3x: 78.2%
  • 10x: 64.4%
  • 20x: 48.4%
Validation Efficiency 91% (93/102)
MGI Phenotype PHENOTYPE: Mice with drastically reduced expression exhibit decreased excitatory postsynaptic currents of dentate gyrate granule neurons, impaired sensorimotor gating, and behavioral deficits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13a T A 5: 114,924,142 (GRCm39) probably benign Het
Arhgef12 A T 9: 42,889,529 (GRCm39) W1029R probably damaging Het
Aunip T A 4: 134,250,823 (GRCm39) L256* probably null Het
Bahcc1 T A 11: 120,180,597 (GRCm39) M2607K probably damaging Het
Bltp3b A G 10: 89,611,831 (GRCm39) T5A probably damaging Het
Cacng6 G T 7: 3,480,384 (GRCm39) M152I possibly damaging Het
Cep120 A G 18: 53,842,119 (GRCm39) probably benign Het
D130043K22Rik T A 13: 25,064,795 (GRCm39) V737D probably damaging Het
Dock10 A G 1: 80,583,642 (GRCm39) S187P probably damaging Het
Eogt C T 6: 97,111,234 (GRCm39) probably benign Het
Fasn A T 11: 120,698,824 (GRCm39) probably benign Het
Frem2 C T 3: 53,431,099 (GRCm39) V2745M probably damaging Het
Fshb T C 2: 106,887,690 (GRCm39) S110G probably benign Het
Gpi1 A G 7: 33,920,324 (GRCm39) Y144H probably damaging Het
Gsap T C 5: 21,475,620 (GRCm39) probably benign Het
Helz2 C A 2: 180,874,552 (GRCm39) G1981C probably damaging Het
Herc3 T C 6: 58,862,050 (GRCm39) probably benign Het
Il1r2 C T 1: 40,164,210 (GRCm39) T359M probably damaging Het
Il6st T C 13: 112,637,682 (GRCm39) C563R possibly damaging Het
Irs1 T A 1: 82,264,977 (GRCm39) K1080* probably null Het
Itpr1 T C 6: 108,331,587 (GRCm39) V182A probably damaging Het
Kalrn C T 16: 34,018,884 (GRCm39) probably benign Het
Kcnj11 G A 7: 45,748,363 (GRCm39) A320V probably benign Het
Lrig1 T A 6: 94,584,330 (GRCm39) R905* probably null Het
Lrrc43 T C 5: 123,639,378 (GRCm39) L469P probably damaging Het
Med29 A T 7: 28,090,501 (GRCm39) probably benign Het
Mroh7 T C 4: 106,578,623 (GRCm39) I18M probably benign Het
Nalcn A C 14: 123,744,901 (GRCm39) C376G probably benign Het
Ncor2 C T 5: 125,196,545 (GRCm39) probably null Het
Nek1 T A 8: 61,542,768 (GRCm39) M786K probably benign Het
Nrxn2 A G 19: 6,559,987 (GRCm39) probably benign Het
Nxpe2 T C 9: 48,231,080 (GRCm39) I430V probably benign Het
Pcolce2 A G 9: 95,577,017 (GRCm39) probably null Het
Pdcl A T 2: 37,241,932 (GRCm39) L273M probably damaging Het
Pml A T 9: 58,127,776 (GRCm39) S610R probably damaging Het
Polk C A 13: 96,641,124 (GRCm39) R144S probably damaging Het
Rlf A G 4: 121,003,769 (GRCm39) V1737A possibly damaging Het
Rubcnl T A 14: 75,285,703 (GRCm39) probably benign Het
Scn3a A T 2: 65,292,045 (GRCm39) V1567E probably damaging Het
Scyl2 A G 10: 89,495,183 (GRCm39) I296T probably benign Het
Slc15a3 A G 19: 10,833,404 (GRCm39) I474V probably damaging Het
Sstr1 T C 12: 58,259,935 (GRCm39) L186S probably damaging Het
Trim69 A T 2: 122,004,958 (GRCm39) probably null Het
Trim80 T G 11: 115,338,768 (GRCm39) Y533D probably damaging Het
Unc13b T C 4: 43,096,990 (GRCm39) I121T possibly damaging Het
Usp40 T C 1: 87,906,133 (GRCm39) T701A probably benign Het
Xpr1 A G 1: 155,208,145 (GRCm39) probably benign Het
Ywhab T A 2: 163,858,090 (GRCm39) I219N probably damaging Het
Zfp219 G T 14: 52,246,485 (GRCm39) T169K probably damaging Het
Other mutations in Tmem108
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01633:Tmem108 APN 9 103,361,950 (GRCm39) missense probably benign 0.04
IGL02008:Tmem108 APN 9 103,366,439 (GRCm39) missense possibly damaging 0.85
IGL02318:Tmem108 APN 9 103,376,981 (GRCm39) missense probably benign 0.14
R0092:Tmem108 UTSW 9 103,366,504 (GRCm39) missense possibly damaging 0.71
R0378:Tmem108 UTSW 9 103,376,856 (GRCm39) missense possibly damaging 0.71
R0781:Tmem108 UTSW 9 103,361,889 (GRCm39) missense probably damaging 0.98
R1138:Tmem108 UTSW 9 103,376,168 (GRCm39) missense possibly damaging 0.71
R2090:Tmem108 UTSW 9 103,361,976 (GRCm39) missense possibly damaging 0.57
R2137:Tmem108 UTSW 9 103,377,162 (GRCm39) missense possibly damaging 0.71
R2520:Tmem108 UTSW 9 103,366,481 (GRCm39) missense possibly damaging 0.85
R4724:Tmem108 UTSW 9 103,376,688 (GRCm39) missense possibly damaging 0.86
R4883:Tmem108 UTSW 9 103,376,276 (GRCm39) missense possibly damaging 0.93
R5358:Tmem108 UTSW 9 103,376,717 (GRCm39) missense probably damaging 0.98
R6337:Tmem108 UTSW 9 103,376,960 (GRCm39) missense possibly damaging 0.95
R6888:Tmem108 UTSW 9 103,376,915 (GRCm39) missense probably damaging 1.00
R7223:Tmem108 UTSW 9 103,376,733 (GRCm39) missense not run
R8014:Tmem108 UTSW 9 103,376,606 (GRCm39) missense probably benign 0.04
R8139:Tmem108 UTSW 9 103,377,084 (GRCm39) missense probably benign 0.02
R8355:Tmem108 UTSW 9 103,377,069 (GRCm39) missense possibly damaging 0.86
R8455:Tmem108 UTSW 9 103,377,069 (GRCm39) missense possibly damaging 0.86
R8937:Tmem108 UTSW 9 103,361,981 (GRCm39) missense probably benign 0.15
R8940:Tmem108 UTSW 9 103,377,156 (GRCm39) missense possibly damaging 0.86
Posted On 2013-03-25