Incidental Mutation 'R0094:Tmem81'
ID17334
Institutional Source Beutler Lab
Gene Symbol Tmem81
Ensembl Gene ENSMUSG00000048174
Gene Nametransmembrane protein 81
Synonyms4930429O20Rik
MMRRC Submission 038380-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #R0094 (G1)
Quality Score
Status Validated
Chromosome1
Chromosomal Location132506230-132508639 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 132508049 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 198 (I198V)
Ref Sequence ENSEMBL: ENSMUSP00000139911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027700] [ENSMUST00000058167] [ENSMUST00000086521] [ENSMUST00000187505] [ENSMUST00000188789] [ENSMUST00000190825] [ENSMUST00000190997]
Predicted Effect probably benign
Transcript: ENSMUST00000027700
SMART Domains Protein: ENSMUSP00000027700
Gene: ENSMUSG00000026439

DomainStartEndE-ValueType
WD40 14 52 2.31e-1 SMART
WD40 55 94 7.33e-7 SMART
Blast:WD40 97 177 2e-31 BLAST
WD40 182 226 8.29e-1 SMART
WD40 241 280 1.28e1 SMART
WD40 283 322 2.97e0 SMART
low complexity region 344 358 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000058167
AA Change: I198V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000062565
Gene: ENSMUSG00000048174
AA Change: I198V

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Blast:IG 86 178 6e-54 BLAST
transmembrane domain 221 243 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000086521
SMART Domains Protein: ENSMUSP00000083707
Gene: ENSMUSG00000053024

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
IGc2 54 120 8.78e-9 SMART
IG 142 232 3.89e-1 SMART
IGc2 254 315 2.14e-21 SMART
IGc2 341 404 4.59e-12 SMART
IGc2 433 497 7.52e-8 SMART
IGc2 523 596 2.72e-5 SMART
FN3 610 696 2.72e-12 SMART
FN3 713 799 1.02e-2 SMART
FN3 815 899 5.27e-10 SMART
FN3 915 995 8.91e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186487
Predicted Effect probably benign
Transcript: ENSMUST00000187505
SMART Domains Protein: ENSMUSP00000141176
Gene: ENSMUSG00000026439

DomainStartEndE-ValueType
Blast:WD40 1 52 9e-13 BLAST
WD40 55 99 5.1e-3 SMART
WD40 114 153 7.9e-2 SMART
WD40 156 195 1.9e-2 SMART
low complexity region 217 231 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187834
Predicted Effect probably benign
Transcript: ENSMUST00000188065
Predicted Effect probably benign
Transcript: ENSMUST00000188789
AA Change: I198V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000139911
Gene: ENSMUSG00000048174
AA Change: I198V

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Blast:IG 86 178 6e-54 BLAST
transmembrane domain 221 243 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190601
Predicted Effect probably benign
Transcript: ENSMUST00000190825
SMART Domains Protein: ENSMUSP00000139519
Gene: ENSMUSG00000026439

DomainStartEndE-ValueType
WD40 14 52 1.4e-3 SMART
WD40 55 94 4.6e-9 SMART
Blast:WD40 97 177 2e-31 BLAST
WD40 182 226 5.1e-3 SMART
WD40 241 280 7.9e-2 SMART
WD40 283 322 1.9e-2 SMART
low complexity region 344 358 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190997
SMART Domains Protein: ENSMUSP00000141003
Gene: ENSMUSG00000026439

DomainStartEndE-ValueType
WD40 14 52 2.31e-1 SMART
WD40 55 94 7.33e-7 SMART
Blast:WD40 97 177 2e-31 BLAST
WD40 182 226 8.29e-1 SMART
WD40 241 280 1.28e1 SMART
WD40 283 322 2.97e0 SMART
low complexity region 344 358 N/A INTRINSIC
Meta Mutation Damage Score 0.19 question?
Coding Region Coverage
  • 1x: 84.5%
  • 3x: 75.9%
  • 10x: 43.5%
  • 20x: 12.9%
Validation Efficiency 86% (51/59)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,409,778 probably benign Het
4930432E11Rik A G 7: 29,560,811 noncoding transcript Het
4931429L15Rik T A 9: 46,306,886 T185S possibly damaging Het
Ahnak T A 19: 9,013,893 D4180E probably benign Het
Amotl1 A G 9: 14,575,387 S441P probably benign Het
Ankrd12 A T 17: 65,970,176 D2034E probably damaging Het
B3gnt2 T C 11: 22,836,655 R178G probably damaging Het
Colgalt1 T C 8: 71,623,158 V483A probably damaging Het
Ctsj A C 13: 61,003,705 probably null Het
Dap3 T A 3: 88,927,028 M294L probably benign Het
Ddias T C 7: 92,859,900 N269S possibly damaging Het
Dsg2 A T 18: 20,591,853 T439S probably benign Het
Eif2b1 A G 5: 124,571,766 F250L probably benign Het
Emc1 T A 4: 139,360,485 F100Y probably damaging Het
Hfm1 T A 5: 106,917,478 M112L probably benign Het
Lipg T C 18: 74,945,846 Y445C probably benign Het
Lrp1b T C 2: 41,282,030 probably benign Het
Ltbp2 A G 12: 84,799,426 Y897H probably damaging Het
Mfap5 G A 6: 122,525,992 V54I probably damaging Het
Mvd C T 8: 122,439,703 R65H probably benign Het
Mybpc2 A G 7: 44,516,904 Y221H probably damaging Het
Nbeal1 T A 1: 60,305,309 I2323N possibly damaging Het
Olfr293 A G 7: 86,664,294 S211G probably benign Het
Otol1 G A 3: 70,018,683 A64T probably benign Het
Pcdh8 G T 14: 79,768,148 D933E probably damaging Het
Pkd1 A G 17: 24,581,276 T3004A possibly damaging Het
Pkhd1 T A 1: 20,209,246 R2949S probably damaging Het
Ptpro T C 6: 137,386,352 Y495H probably benign Het
Rad54b T C 4: 11,599,681 V72A possibly damaging Het
Ranbp3 A G 17: 56,709,338 probably benign Het
Rpa2 T C 4: 132,770,582 S52P probably damaging Het
Serping1 T G 2: 84,773,276 R140S probably benign Het
Slc34a2 T C 5: 53,063,968 F252S probably benign Het
Spata45 A G 1: 191,039,862 probably benign Het
Sptan1 T C 2: 30,006,623 S1174P probably benign Het
Ss18l2 T C 9: 121,712,633 L64P probably benign Het
Trappc9 A T 15: 72,894,929 probably benign Het
Ubr3 C T 2: 69,951,362 T628I probably damaging Het
Zzef1 C T 11: 72,817,965 T130I probably benign Het
Other mutations in Tmem81
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01918:Tmem81 APN 1 132507960 missense probably damaging 1.00
R0255:Tmem81 UTSW 1 132507829 missense probably damaging 1.00
R0432:Tmem81 UTSW 1 132507829 missense probably damaging 1.00
R0531:Tmem81 UTSW 1 132507829 missense probably damaging 1.00
R0532:Tmem81 UTSW 1 132507829 missense probably damaging 1.00
R0551:Tmem81 UTSW 1 132507829 missense probably damaging 1.00
R0614:Tmem81 UTSW 1 132507731 missense probably benign 0.01
R0651:Tmem81 UTSW 1 132507829 missense probably damaging 1.00
R0696:Tmem81 UTSW 1 132507829 missense probably damaging 1.00
R0973:Tmem81 UTSW 1 132507924 missense probably damaging 1.00
R1663:Tmem81 UTSW 1 132507897 missense probably benign 0.05
R1750:Tmem81 UTSW 1 132507583 missense probably damaging 0.98
R1881:Tmem81 UTSW 1 132508210 unclassified probably benign
R2074:Tmem81 UTSW 1 132507906 missense probably damaging 0.98
R2121:Tmem81 UTSW 1 132508109 missense probably benign 0.00
R3003:Tmem81 UTSW 1 132508014 missense probably benign 0.38
R3789:Tmem81 UTSW 1 132508071 missense probably benign 0.03
R4638:Tmem81 UTSW 1 132508205 unclassified probably benign
R7162:Tmem81 UTSW 1 132507617 missense probably damaging 1.00
R7375:Tmem81 UTSW 1 132507563 missense possibly damaging 0.76
R7527:Tmem81 UTSW 1 132508146 missense probably benign 0.34
Posted On2013-01-20