Incidental Mutation 'IGL00163:Tmem259'
ID1234
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 #IGL00163
Quality Score
Status
Chromosome10
Chromosomal Location79974948-79984330 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 79979734 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 81 (V81A)
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 benign
Transcript: ENSMUST00000052885
AA Change: V81A

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000056792
Gene: ENSMUSG00000013858
AA Change: V81A

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: V50A
SMART Domains Protein: ENSMUSP00000119572
Gene: ENSMUSG00000013858
AA Change: V50A

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
4930553M12Rik G A 4: 88,868,073 Q103* probably null Het
4933406P04Rik C A 10: 20,311,224 probably benign Het
Adgrg6 T C 10: 14,467,450 E251G probably damaging Het
AF529169 A T 9: 89,591,097 probably benign Het
Ago2 T C 15: 73,126,453 H292R probably benign Het
Akr1c6 T C 13: 4,448,978 probably benign Het
Arhgap24 T A 5: 102,860,399 M62K possibly damaging Het
Bicd1 A G 6: 149,550,390 H834R possibly damaging Het
Ccdc77 G T 6: 120,329,084 probably benign Het
Cdadc1 G T 14: 59,581,369 H337N probably damaging Het
Cep192 A G 18: 67,880,800 T2424A possibly damaging Het
Cep78 T C 19: 15,969,140 T443A probably benign Het
Chrna1 T A 2: 73,570,642 E181D probably benign Het
Dmxl1 G A 18: 49,851,467 D177N probably damaging Het
Eif3h T A 15: 51,786,799 I330F probably damaging Het
Fam184b T C 5: 45,539,749 E691G probably benign Het
Fastkd1 T A 2: 69,707,549 S230C probably benign Het
Gipc2 T C 3: 152,137,578 I141V probably damaging Het
Hsd17b2 A T 8: 117,758,671 D291V probably damaging Het
Itpr2 G A 6: 146,390,836 A420V possibly damaging Het
Jag1 C T 2: 137,086,032 probably null Het
Mmp1b T A 9: 7,387,946 Y16F probably benign Het
Muc4 G T 16: 32,754,090 R1322M probably benign Het
Myo9b T C 8: 71,348,735 I1179T probably benign Het
Nos1ap A G 1: 170,514,606 probably benign Het
Npc1l1 A T 11: 6,224,199 V702E probably damaging Het
Olfr1183 A T 2: 88,461,352 Y4F probably benign Het
Olfr1303 A C 2: 111,813,781 probably benign Het
Olfr1380 A C 11: 49,563,920 probably benign Het
Olfr270 G A 4: 52,971,058 V146M possibly damaging Het
Olfr50 A G 2: 36,794,000 I255V probably benign Het
Olfr699 T A 7: 106,790,589 R137S probably benign Het
Osmr A T 15: 6,844,445 L157* probably null Het
Pdzph1 T C 17: 58,974,796 T164A possibly damaging Het
Ptn T C 6: 36,743,489 K43E probably benign Het
Rbm45 T C 2: 76,378,707 V340A probably damaging Het
Rnf5 C T 17: 34,602,109 G83E probably damaging Het
Scin G T 12: 40,076,972 Q459K probably benign Het
Serpina5 C A 12: 104,105,220 A362D probably damaging Het
Tcrg-V3 G A 13: 19,243,211 S88N probably benign Het
Tex47 T A 5: 7,305,468 Y216* probably null Het
Tll1 A T 8: 64,016,136 H984Q probably benign Het
Tns3 A T 11: 8,451,066 S1077R probably benign Het
Ttc17 A G 2: 94,323,083 probably benign Het
Tubgcp2 T C 7: 140,031,022 T149A possibly damaging Het
Ulk1 G A 5: 110,787,872 A25V probably damaging Het
Vps13d T C 4: 145,168,540 E378G probably damaging Het
Vsig10 A G 5: 117,338,414 N311S probably benign Het
Zfp511 T C 7: 140,037,516 Y144H possibly damaging Het
Other mutations in Tmem259
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02735:Tmem259 APN 10 79979139 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
R7677:Tmem259 UTSW 10 79978580 missense probably damaging 1.00
Z1177:Tmem259 UTSW 10 79978951 missense probably damaging 0.99
Posted On2011-07-12