Incidental Mutation 'IGL02735:Tmem259'
ID305624
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem259
Ensembl Gene ENSMUSG00000013858
Gene Nametransmembrane protein 259
Synonymsmembralin, ORF61
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02735
Quality Score
Status
Chromosome10
Chromosomal Location79974948-79984330 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 79979139 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 217 (T217I)
Ref Sequence ENSEMBL: ENSMUSP00000056792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045085] [ENSMUST00000052885]
Predicted Effect probably benign
Transcript: ENSMUST00000045085
SMART Domains Protein: ENSMUSP00000048576
Gene: ENSMUSG00000035745

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 39 60 N/A INTRINSIC
low complexity region 217 230 N/A INTRINSIC
PBPe 458 810 1.01e-82 SMART
Lig_chan-Glu_bd 459 522 6.6e-20 SMART
transmembrane domain 826 848 N/A INTRINSIC
low complexity region 914 930 N/A INTRINSIC
coiled coil region 950 984 N/A INTRINSIC
low complexity region 989 1001 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000052885
AA Change: T217I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056792
Gene: ENSMUSG00000013858
AA Change: T217I

DomainStartEndE-ValueType
Pfam:Membralin 34 131 3.3e-44 PFAM
Pfam:Membralin 138 393 3.9e-130 PFAM
transmembrane domain 394 411 N/A INTRINSIC
low complexity region 455 470 N/A INTRINSIC
low complexity region 483 521 N/A INTRINSIC
low complexity region 531 544 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000124536
AA Change: T186I
SMART Domains Protein: ENSMUSP00000119572
Gene: ENSMUSG00000013858
AA Change: T186I

DomainStartEndE-ValueType
Pfam:Membralin 4 101 1.6e-44 PFAM
Pfam:Membralin 108 297 7.7e-83 PFAM
Pfam:Membralin 316 387 5e-42 PFAM
transmembrane domain 388 405 N/A INTRINSIC
low complexity region 449 464 N/A INTRINSIC
low complexity region 477 515 N/A INTRINSIC
low complexity region 525 538 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124889
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126383
Predicted Effect probably benign
Transcript: ENSMUST00000131816
SMART Domains Protein: ENSMUSP00000122984
Gene: ENSMUSG00000035745

DomainStartEndE-ValueType
Pfam:Lig_chan 1 368 2.2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132080
Predicted Effect probably benign
Transcript: ENSMUST00000149148
SMART Domains Protein: ENSMUSP00000116887
Gene: ENSMUSG00000035745

DomainStartEndE-ValueType
PBPe 100 452 1.01e-82 SMART
Lig_chan-Glu_bd 101 164 6.6e-20 SMART
transmembrane domain 468 490 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype Mice homozygous for a knock-out allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities.
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Acss1 A T 2: 150,638,467 V228E probably damaging Het
Ampd1 T A 3: 103,085,377 M145K probably damaging Het
Ankhd1 G A 18: 36,648,546 S2217N probably benign Het
Asph T A 4: 9,598,759 D211V probably damaging Het
C87414 G A 5: 93,638,644 P89S possibly damaging Het
Cd55b A T 1: 130,388,676 W379R probably damaging Het
Derl3 A G 10: 75,895,116 T201A probably damaging Het
Efcab6 A G 15: 83,899,697 L1008P probably damaging Het
Eif4g3 A G 4: 138,126,211 I363V probably benign Het
Heatr5a A G 12: 51,915,021 F1058L probably damaging Het
Hmcn1 A T 1: 150,646,832 M3439K probably benign Het
Ift140 C A 17: 25,034,035 probably benign Het
Itgad A G 7: 128,193,716 Y832C probably damaging Het
Itgb2 T A 10: 77,549,999 D265E possibly damaging Het
Kif19a A T 11: 114,785,567 E449V probably damaging Het
Krt40 T C 11: 99,538,635 E291G probably damaging Het
Lama2 T C 10: 27,104,128 N1897S probably damaging Het
Lepr A G 4: 101,782,638 Y767C probably damaging Het
Lrrtm4 A G 6: 80,809,050 H546R probably benign Het
March6 A G 15: 31,486,120 S362P probably benign Het
Med12l A G 3: 59,093,646 Y734C probably damaging Het
Mrps18a C T 17: 46,122,799 R74C probably damaging Het
Mvk A G 5: 114,450,819 E174G probably benign Het
Naip2 A G 13: 100,160,214 S1105P probably damaging Het
Nrxn3 A G 12: 89,254,854 M468V probably benign Het
Obscn T C 11: 59,093,349 E1760G probably damaging Het
Pcsk5 C A 19: 17,675,468 G285W probably damaging Het
Pgpep1l A G 7: 68,236,973 I196T probably benign Het
Phf14 T C 6: 11,987,612 M630T probably benign Het
Plod2 T C 9: 92,595,389 probably benign Het
Poldip2 G A 11: 78,512,336 A9T probably benign Het
Pou2f1 A G 1: 165,875,827 S718P probably damaging Het
Ptpre A T 7: 135,667,567 Y246F probably damaging Het
Pudp T C 18: 50,568,332 H110R probably benign Het
Scaf4 C T 16: 90,245,515 G646E unknown Het
Sec16a T A 2: 26,428,137 probably benign Het
Serpina5 A G 12: 104,103,857 T338A probably benign Het
Shisa5 T G 9: 109,056,012 F118V probably damaging Het
Slc6a21 G A 7: 45,286,637 probably benign Het
Sprtn T A 8: 124,903,387 V473E probably benign Het
Styxl1 A G 5: 135,759,142 I165T probably damaging Het
Tal2 T A 4: 53,785,906 I29N probably damaging Het
Tas2r134 T C 2: 51,627,827 I106T probably damaging Het
Trpc6 T C 9: 8,655,338 I723T probably damaging Het
Vmn1r211 A T 13: 22,852,248 V83D probably damaging Het
Vmn2r103 G T 17: 19,812,248 M761I probably benign Het
Ybey A T 10: 76,468,326 I14N probably damaging Het
Other mutations in Tmem259
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Tmem259 APN 10 79979734 missense probably benign 0.12
IGL01022:Tmem259 APN 10 79983974 missense probably damaging 1.00
IGL02113:Tmem259 APN 10 79978709 missense probably benign 0.00
IGL02218:Tmem259 APN 10 79978317 missense possibly damaging 0.91
IGL02272:Tmem259 APN 10 79978463 missense probably damaging 1.00
IGL02648:Tmem259 APN 10 79977817 missense probably damaging 1.00
R0244:Tmem259 UTSW 10 79978963 missense probably damaging 1.00
R0535:Tmem259 UTSW 10 79978595 missense probably damaging 1.00
R3824:Tmem259 UTSW 10 79978448 missense possibly damaging 0.91
R3825:Tmem259 UTSW 10 79978448 missense possibly damaging 0.91
R5564:Tmem259 UTSW 10 79978608 splice site probably null
R6773:Tmem259 UTSW 10 79977588 missense possibly damaging 0.95
R6979:Tmem259 UTSW 10 79978557 missense possibly damaging 0.51
R7288:Tmem259 UTSW 10 79978466 missense probably damaging 1.00
R7473:Tmem259 UTSW 10 79979672 missense possibly damaging 0.48
Posted On2015-04-16