Incidental Mutation 'IGL02704:Tmem217'
ID304273
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem217
Ensembl Gene ENSMUSG00000079580
Gene Nametransmembrane protein 217
Synonyms4933413N12Rik, EG622644
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL02704
Quality Score
Status
Chromosome17
Chromosomal Location29526033-29549593 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 29526558 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 66 (V66D)
Ref Sequence ENSEMBL: ENSMUSP00000132463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114683] [ENSMUST00000168339]
Predicted Effect probably damaging
Transcript: ENSMUST00000114683
AA Change: V66D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110331
Gene: ENSMUSG00000079580
AA Change: V66D

DomainStartEndE-ValueType
Pfam:DUF4534 11 168 6.8e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168339
AA Change: V66D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132463
Gene: ENSMUSG00000079580
AA Change: V66D

DomainStartEndE-ValueType
Pfam:DUF4534 11 168 5.3e-62 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs G T 2: 93,842,926 P162Q probably damaging Het
Alb A G 5: 90,468,509 N291S possibly damaging Het
Ankar T C 1: 72,652,343 D935G possibly damaging Het
Atp13a5 A T 16: 29,251,328 C935* probably null Het
Bivm A T 1: 44,126,446 T19S probably benign Het
Ddah2 C A 17: 35,061,007 D158E possibly damaging Het
Dnah7b C T 1: 46,142,133 T1060I probably benign Het
Efhb T C 17: 53,426,269 T525A probably damaging Het
Exoc3 A G 13: 74,174,144 M604T probably benign Het
Frmpd1 T G 4: 45,285,082 I1301S possibly damaging Het
Gm5269 T C 1: 45,890,075 T2A probably benign Het
Hif3a T A 7: 17,050,761 probably benign Het
Hpgds A T 6: 65,123,637 L119* probably null Het
Iars A G 13: 49,721,100 D750G probably damaging Het
Ift43 T A 12: 86,161,177 D106E probably benign Het
Iqub T A 6: 24,505,910 probably benign Het
Lamb1 A G 12: 31,318,467 K1199E probably benign Het
Mast3 T A 8: 70,786,875 I395F probably damaging Het
Megf8 T C 7: 25,359,782 S2236P probably damaging Het
Met T A 6: 17,491,257 V6E possibly damaging Het
Muc5ac A T 7: 141,795,263 T479S possibly damaging Het
Myo7b T C 18: 31,966,961 T1623A probably benign Het
Neto1 T C 18: 86,473,823 L283P probably damaging Het
Olfr1104 T C 2: 87,022,277 Q89R probably benign Het
Olfr1287 A T 2: 111,449,147 E2D probably benign Het
Olfr720 T C 14: 14,175,483 I200V probably benign Het
Olfr917 G A 9: 38,665,767 P26S possibly damaging Het
Olfr954 T C 9: 39,462,283 V284A probably damaging Het
Onecut1 A G 9: 74,863,030 N245S probably damaging Het
Pkd1l1 A G 11: 8,834,910 V1958A probably benign Het
Plb1 C T 5: 32,353,667 A1292V probably benign Het
Plekha5 A G 6: 140,543,866 E223G probably damaging Het
Pou1f1 A T 16: 65,529,799 Q121L possibly damaging Het
Rbm25 G A 12: 83,642,726 G47D probably damaging Het
Rif1 T A 2: 52,093,576 M577K probably damaging Het
Scn8a A G 15: 101,008,062 E712G possibly damaging Het
Snx24 A G 18: 53,327,437 N29S probably benign Het
Ttn T G 2: 76,767,641 N19643H probably damaging Het
Uimc1 T C 13: 55,030,959 T646A probably benign 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
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
R0906:Tmem217 UTSW 17 29526516 missense probably damaging 1.00
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
Posted On2015-04-16