Incidental Mutation 'R0906:Tmem217'
ID83340
Institutional Source Beutler Lab
Gene Symbol Tmem217
Ensembl Gene ENSMUSG00000079580
Gene Nametransmembrane protein 217
Synonyms4933413N12Rik, EG622644
MMRRC Submission 039064-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #R0906 (G1)
Quality Score225
Status Validated
Chromosome17
Chromosomal Location29526033-29549593 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 29526516 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 80 (L80P)
Ref Sequence ENSEMBL: ENSMUSP00000132463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114683] [ENSMUST00000168339]
Predicted Effect probably damaging
Transcript: ENSMUST00000114683
AA Change: L80P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110331
Gene: ENSMUSG00000079580
AA Change: L80P

DomainStartEndE-ValueType
Pfam:DUF4534 11 168 6.8e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168339
AA Change: L80P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132463
Gene: ENSMUSG00000079580
AA Change: L80P

DomainStartEndE-ValueType
Pfam:DUF4534 11 168 5.3e-62 PFAM
Meta Mutation Damage Score 0.6420 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 T A 1: 130,737,693 probably benign Het
Atp7b T C 8: 22,027,826 H332R probably benign Het
Bace2 C T 16: 97,356,941 P47L possibly damaging Het
Cyp2c39 A G 19: 39,510,871 M1V probably null Het
Dcbld2 A G 16: 58,455,247 E442G probably damaging Het
Gm14496 A G 2: 182,000,515 T660A probably damaging Het
Gm4945 A C 17: 47,042,870 noncoding transcript Het
Gm5065 T C 7: 5,359,829 I153T probably damaging Het
Gm6729 T C 10: 86,540,592 noncoding transcript Het
Golga1 G A 2: 39,047,643 R204W probably damaging Het
Guf1 T C 5: 69,566,386 I348T probably damaging Het
Htra4 T A 8: 25,037,144 I212L probably benign Het
Itih5 G A 2: 10,249,188 R750Q probably benign Het
Lgr6 C T 1: 134,994,010 A199T probably damaging Het
Naip2 T C 13: 100,161,854 E558G probably benign Het
Naip2 C T 13: 100,161,860 G556D probably benign Het
Nsd1 T C 13: 55,277,590 V1520A probably benign Het
Nuak1 C T 10: 84,375,280 V315I probably damaging Het
Nup205 G T 6: 35,236,892 G1740C probably damaging Het
Olfr398 G C 11: 73,983,859 L250V probably damaging Het
Pclo T C 5: 14,676,686 probably benign Het
Pik3r6 T C 11: 68,536,101 probably benign Het
Pikfyve T A 1: 65,253,397 F1336I probably damaging Het
Pla2r1 A G 2: 60,514,947 I355T possibly damaging Het
Rgs22 A T 15: 36,103,902 probably benign Het
Sec63 T A 10: 42,801,928 M312K probably damaging Het
Slc2a5 T C 4: 150,142,830 I401T probably benign Het
Slc9a8 G T 2: 167,434,867 probably benign Het
Stab1 T C 14: 31,145,249 E1718G probably benign Het
Terb1 A T 8: 104,452,636 I640N probably damaging Het
Topbp1 C T 9: 103,328,593 P810L probably benign Het
Ttbk2 G A 2: 120,783,781 R151C probably damaging Het
Vmn2r88 T G 14: 51,418,209 L626R probably damaging Het
Other mutations in Tmem217
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01094:Tmem217 APN 17 29526592 missense probably benign 0.13
IGL01695:Tmem217 APN 17 29526348 missense probably damaging 1.00
IGL02081:Tmem217 APN 17 29526373 missense probably damaging 1.00
IGL02704:Tmem217 APN 17 29526558 missense probably damaging 1.00
IGL02804:Tmem217 APN 17 29526481 missense probably damaging 1.00
R0200:Tmem217 UTSW 17 29526310 missense probably benign 0.08
R0266:Tmem217 UTSW 17 29526599 missense possibly damaging 0.87
R3111:Tmem217 UTSW 17 29526558 missense probably damaging 1.00
R3927:Tmem217 UTSW 17 29526703 missense probably damaging 1.00
R5628:Tmem217 UTSW 17 29526456 missense probably damaging 0.98
R5822:Tmem217 UTSW 17 29526555 missense probably damaging 1.00
R6766:Tmem217 UTSW 17 29526510 missense probably damaging 1.00
R8301:Tmem217 UTSW 17 29526492 missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- GTCTCCGCTTCCCAAAGAGATACG -3'
(R):5'- AGGGGTCTTCTCCATCATGGCTAC -3'

Sequencing Primer
(F):5'- GCTTCCCAAAGAGATACGTCTATG -3'
(R):5'- TCATGGCTACCCACATGC -3'
Posted On2013-11-08