Incidental Mutation 'IGL02648:Tmem259'
ID302037
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 #IGL02648
Quality Score
Status
Chromosome10
Chromosomal Location79974948-79984330 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 79977817 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 443 (P443S)
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: P443S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056792
Gene: ENSMUSG00000013858
AA Change: P443S

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: P436S
SMART Domains Protein: ENSMUSP00000119572
Gene: ENSMUSG00000013858
AA Change: P436S

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
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,617,822 probably null Het
Acp4 A G 7: 44,254,990 probably benign Het
Adgrv1 A T 13: 81,511,619 M1997K probably benign Het
Arhgdib T C 6: 136,933,649 D38G probably damaging Het
Bbox1 T G 2: 110,305,526 D36A probably damaging Het
Cacna1c T C 6: 118,757,496 K104R probably damaging Het
Cacna1i G A 15: 80,298,638 C75Y probably damaging Het
Ccdc14 T C 16: 34,697,158 L70S probably damaging Het
Ccdc88a T G 11: 29,501,051 V1580G probably benign Het
Cdadc1 C A 14: 59,586,363 D227Y probably damaging Het
Chd3 T C 11: 69,352,150 Y1415C probably damaging Het
Cngb3 A G 4: 19,428,489 N493S probably benign Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Gm10549 C A 18: 33,464,250 probably benign Het
Gm17677 A T 9: 35,741,109 M21L probably benign Het
Greb1 C T 12: 16,708,682 V678M probably damaging Het
Gucy2c G A 6: 136,729,213 R497* probably null Het
Itgad T C 7: 128,183,374 probably benign Het
Lgr4 C A 2: 110,012,373 T877K probably damaging Het
Lrig3 A G 10: 125,966,594 D40G probably benign Het
Myo3b T C 2: 70,105,372 probably benign Het
Neb A G 2: 52,271,081 Y2193H possibly damaging Het
Olfr1270 T A 2: 90,149,353 I218F possibly damaging Het
Olfr918 T C 9: 38,673,016 M143V probably benign Het
Pard6b A G 2: 168,098,927 Q278R probably benign Het
Pkd2l1 T C 19: 44,155,536 Y366C possibly damaging Het
Prl2c1 A G 13: 27,857,559 D188G probably benign Het
Prl3a1 G T 13: 27,270,235 M65I probably benign Het
Psg26 T A 7: 18,482,766 E49D probably benign Het
Rapgef3 G A 15: 97,758,392 R38W probably damaging Het
Rrn3 T C 16: 13,811,589 F590L probably benign Het
Serpina12 T C 12: 104,038,008 K122E probably benign Het
Slc39a6 T C 18: 24,582,367 I699V probably damaging Het
Vmn1r75 T A 7: 11,881,164 F274L probably benign 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
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 On2015-04-16