Incidental Mutation 'IGL01989:Tmem247'
ID182835
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: 0.060) question?
Stock #IGL01989
Quality Score
Status
Chromosome17
Chromosomal Location86917348-86922374 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 86918291 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 53 (E53G)
Ref Sequence ENSEMBL: ENSMUSP00000039338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042172]
Predicted Effect probably damaging
Transcript: ENSMUST00000042172
AA Change: E53G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039338
Gene: ENSMUSG00000037689
AA Change: E53G

DomainStartEndE-ValueType
Pfam:TMEM247 1 210 2e-115 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202221
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A T 10: 28,986,270 V8D probably damaging Het
Asb15 A G 6: 24,565,944 T299A probably damaging Het
Asph A T 4: 9,602,462 probably benign Het
Cadm3 G A 1: 173,338,011 probably benign Het
Cep164 G A 9: 45,793,015 probably benign Het
Ces2c C A 8: 104,849,743 N129K probably damaging Het
Chdh C A 14: 30,031,731 P199Q possibly damaging Het
Dnah7b T C 1: 46,289,534 V3142A probably damaging Het
Dnmbp A G 19: 43,867,555 L254P probably damaging Het
Dock2 G T 11: 34,268,053 N1172K probably benign Het
Dppa5a T A 9: 78,367,821 E66D probably benign Het
F5 A G 1: 164,176,307 S224G probably benign Het
Fign T C 2: 63,980,450 T159A probably benign Het
Fsip2 A T 2: 82,993,867 D6648V probably damaging Het
Gbp2b A T 3: 142,611,440 E519V probably benign Het
Hdac10 A G 15: 89,125,343 L462P probably damaging Het
Hecw2 A G 1: 53,840,792 L1286S probably damaging Het
Hnrnpll A G 17: 80,038,740 V364A probably benign Het
Hnrnpul2 A G 19: 8,823,628 T282A probably damaging Het
Il12a T A 3: 68,691,576 probably benign Het
Insl5 C A 4: 103,026,641 V28L probably benign Het
Kcnj3 G A 2: 55,437,231 D11N probably benign Het
Lrfn2 A G 17: 49,071,085 D398G probably damaging Het
Lrp1 C T 10: 127,578,129 D1137N probably damaging Het
Mettl18 C A 1: 163,996,303 D64E probably benign Het
Mrpl3 A G 9: 105,071,479 T245A probably benign Het
Mrps18c C A 5: 100,801,909 P52Q probably damaging Het
Myh3 A T 11: 67,086,655 D377V probably damaging Het
N4bp1 C A 8: 86,848,487 V727L probably damaging Het
Npffr2 A G 5: 89,582,972 T254A probably benign Het
Nsfl1c C A 2: 151,500,729 T73K probably damaging Het
Olfr160 C T 9: 37,711,836 V148I probably damaging Het
Plxna1 C T 6: 89,329,414 W1442* probably null Het
Serpina3n T A 12: 104,413,491 M381K probably benign Het
Shank3 C T 15: 89,503,299 probably benign Het
Smtnl1 T C 2: 84,818,470 N147D probably benign Het
Sprr2j-ps T C 3: 92,419,105 S96P unknown Het
Ssh2 A G 11: 77,453,685 E832G possibly damaging Het
Stxbp1 T C 2: 32,812,064 D207G probably benign Het
Sult1c1 A T 17: 53,974,027 M16K probably benign Het
Tmem86a A T 7: 47,053,439 I105F probably benign Het
Tph2 A G 10: 115,146,016 S304P probably benign Het
Ttn T C 2: 76,778,539 D17711G probably damaging Het
Urb1 A T 16: 90,769,586 probably benign Het
Vcan T A 13: 89,689,359 I1729L possibly damaging Het
Vmn2r90 T A 17: 17,713,232 Y351* probably null Het
Wfdc5 C T 2: 164,178,731 probably null Het
Wnt3 G A 11: 103,812,407 D239N probably benign Het
Zbtb8b T A 4: 129,432,388 E295V probably damaging Het
Zfp458 T C 13: 67,259,627 T52A probably damaging Het
Other mutations in Tmem247
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Tmem247 APN 17 86917535 missense probably benign 0.14
IGL02238:Tmem247 APN 17 86918293 missense probably damaging 0.98
IGL03336:Tmem247 APN 17 86918429 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 On2014-05-07