Incidental Mutation 'IGL03336:Tmem247'
ID417053
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem247
Ensembl Gene ENSMUSG00000037689
Gene Nametransmembrane protein 247
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #IGL03336
Quality Score
Status
Chromosome17
Chromosomal Location86917348-86922374 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 86918429 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 99 (E99G)
Ref Sequence ENSEMBL: ENSMUSP00000039338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042172]
Predicted Effect probably damaging
Transcript: ENSMUST00000042172
AA Change: E99G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039338
Gene: ENSMUSG00000037689
AA Change: E99G

DomainStartEndE-ValueType
Pfam:TMEM247 1 210 2e-115 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000202221
AA Change: E7G
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A G 15: 60,016,402 V63A probably benign Het
Ankrd11 A G 8: 122,891,843 S1757P probably benign Het
Atp8a1 G T 5: 67,729,807 Y629* probably null Het
Cenpf T C 1: 189,652,647 K2479E probably damaging Het
Clip1 G T 5: 123,653,570 S179* probably null Het
Cmya5 A G 13: 93,093,505 S1692P possibly damaging Het
Cyp17a1 T C 19: 46,671,035 S119G probably benign Het
Fndc5 T C 4: 129,139,918 F160L probably benign Het
Muc5b T C 7: 141,864,363 V3682A probably damaging Het
Myh8 G T 11: 67,284,702 D328Y probably damaging Het
Olfr1226 T C 2: 89,193,897 T46A probably benign Het
Olfr566 C T 7: 102,856,616 C222Y probably benign Het
Olfr633 T C 7: 103,947,409 L281P probably damaging Het
Olfr713 T A 7: 107,036,335 M60K probably damaging Het
Olfr772 T C 10: 129,174,229 E264G probably benign Het
Paxbp1 T C 16: 91,034,172 I439V probably benign Het
Pcdhb3 T C 18: 37,302,961 V660A possibly damaging Het
Pcyt2 T C 11: 120,615,932 D32G probably damaging Het
Pdzph1 A T 17: 58,974,234 V351D probably benign Het
Ribc2 C T 15: 85,132,913 Q51* probably null Het
Scn2a A G 2: 65,688,744 E438G probably damaging Het
Slc18a3 T C 14: 32,462,828 probably benign Het
Slc5a1 G A 5: 33,146,943 V296I probably benign Het
Slit3 A T 11: 35,670,101 T958S probably damaging Het
Spag8 C T 4: 43,652,114 probably benign Het
Susd3 A C 13: 49,238,782 S144R probably benign Het
Synpo2 T C 3: 123,114,179 E496G possibly damaging Het
Tbcel T C 9: 42,439,131 T269A probably benign Het
Tmem156 A G 5: 65,075,764 Y152H probably benign Het
Tuba3b A G 6: 145,619,724 D306G possibly damaging Het
Vps13c T A 9: 67,951,642 D2791E possibly damaging Het
Ypel4 A G 2: 84,737,527 Y98C probably damaging Het
Other mutations in Tmem247
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Tmem247 APN 17 86917535 missense probably benign 0.14
IGL01989:Tmem247 APN 17 86918291 missense probably damaging 0.98
IGL02238:Tmem247 APN 17 86918293 missense probably damaging 0.98
R0133:Tmem247 UTSW 17 86918561 missense probably benign 0.32
R0415:Tmem247 UTSW 17 86922322 missense probably damaging 0.98
R0426:Tmem247 UTSW 17 86918503 missense possibly damaging 0.95
R0539:Tmem247 UTSW 17 86917478 missense probably benign 0.45
R2306:Tmem247 UTSW 17 86918441 missense probably benign 0.01
R4750:Tmem247 UTSW 17 86922342 missense probably damaging 0.98
R6665:Tmem247 UTSW 17 86918570 missense probably benign 0.14
R7159:Tmem247 UTSW 17 86918282 missense probably benign
R7881:Tmem247 UTSW 17 86922300 missense probably damaging 0.97
R8125:Tmem247 UTSW 17 86922367 missense
Posted On2016-08-02