Incidental Mutation 'IGL02648:Tmem259'
ID 302037
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem259
Ensembl Gene ENSMUSG00000013858
Gene Name transmembrane protein 259
Synonyms ORF61, membralin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02648
Quality Score
Status
Chromosome 10
Chromosomal Location 79812954-79820159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79813651 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8CIV2
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: 144,344,392 (GRCm39) probably null Het
Acp4 A G 7: 43,904,414 (GRCm39) probably benign Het
Adgrv1 A T 13: 81,659,738 (GRCm39) M1997K probably benign Het
Arhgdib T C 6: 136,910,647 (GRCm39) D38G probably damaging Het
Bbox1 T G 2: 110,135,871 (GRCm39) D36A probably damaging Het
Cacna1c T C 6: 118,734,457 (GRCm39) K104R probably damaging Het
Cacna1i G A 15: 80,182,839 (GRCm39) C75Y probably damaging Het
Ccdc14 T C 16: 34,517,528 (GRCm39) L70S probably damaging Het
Ccdc88a T G 11: 29,451,051 (GRCm39) V1580G probably benign Het
Cdadc1 C A 14: 59,823,812 (GRCm39) D227Y probably damaging Het
Chd3 T C 11: 69,242,976 (GRCm39) Y1415C probably damaging Het
Cngb3 A G 4: 19,428,489 (GRCm39) N493S probably benign Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Gm10549 C A 18: 33,597,303 (GRCm39) probably benign Het
Greb1 C T 12: 16,758,683 (GRCm39) V678M probably damaging Het
Gucy2c G A 6: 136,706,211 (GRCm39) R497* probably null Het
Itgad T C 7: 127,782,546 (GRCm39) probably benign Het
Lgr4 C A 2: 109,842,718 (GRCm39) T877K probably damaging Het
Lrig3 A G 10: 125,802,463 (GRCm39) D40G probably benign Het
Myo3b T C 2: 69,935,716 (GRCm39) probably benign Het
Neb A G 2: 52,161,093 (GRCm39) Y2193H possibly damaging Het
Or4b1 T A 2: 89,979,697 (GRCm39) I218F possibly damaging Het
Or8b3b T C 9: 38,584,312 (GRCm39) M143V probably benign Het
Pard6b A G 2: 167,940,847 (GRCm39) Q278R probably benign Het
Pate10 A T 9: 35,652,405 (GRCm39) M21L probably benign Het
Pkd2l1 T C 19: 44,143,975 (GRCm39) Y366C possibly damaging Het
Prl2c1 A G 13: 28,041,542 (GRCm39) D188G probably benign Het
Prl3a1 G T 13: 27,454,218 (GRCm39) M65I probably benign Het
Psg26 T A 7: 18,216,691 (GRCm39) E49D probably benign Het
Rapgef3 G A 15: 97,656,273 (GRCm39) R38W probably damaging Het
Rrn3 T C 16: 13,629,453 (GRCm39) F590L probably benign Het
Serpina12 T C 12: 104,004,267 (GRCm39) K122E probably benign Het
Slc39a6 T C 18: 24,715,424 (GRCm39) I699V probably damaging Het
Vmn1r75 T A 7: 11,615,091 (GRCm39) F274L probably benign Het
Other mutations in Tmem259
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Tmem259 APN 10 79,815,568 (GRCm39) missense probably benign 0.12
IGL01022:Tmem259 APN 10 79,819,808 (GRCm39) missense probably damaging 1.00
IGL02113:Tmem259 APN 10 79,814,543 (GRCm39) missense probably benign 0.00
IGL02218:Tmem259 APN 10 79,814,151 (GRCm39) missense possibly damaging 0.91
IGL02272:Tmem259 APN 10 79,814,297 (GRCm39) missense probably damaging 1.00
IGL02735:Tmem259 APN 10 79,814,973 (GRCm39) missense probably damaging 1.00
R0244:Tmem259 UTSW 10 79,814,797 (GRCm39) missense probably damaging 1.00
R0535:Tmem259 UTSW 10 79,814,429 (GRCm39) missense probably damaging 1.00
R3824:Tmem259 UTSW 10 79,814,282 (GRCm39) missense possibly damaging 0.91
R3825:Tmem259 UTSW 10 79,814,282 (GRCm39) missense possibly damaging 0.91
R5564:Tmem259 UTSW 10 79,814,442 (GRCm39) splice site probably null
R6773:Tmem259 UTSW 10 79,813,422 (GRCm39) missense possibly damaging 0.95
R6979:Tmem259 UTSW 10 79,814,391 (GRCm39) missense possibly damaging 0.51
R7288:Tmem259 UTSW 10 79,814,300 (GRCm39) missense probably damaging 1.00
R7473:Tmem259 UTSW 10 79,815,506 (GRCm39) missense possibly damaging 0.48
R7677:Tmem259 UTSW 10 79,814,414 (GRCm39) missense probably damaging 1.00
R8531:Tmem259 UTSW 10 79,813,819 (GRCm39) missense probably damaging 0.98
R8826:Tmem259 UTSW 10 79,814,983 (GRCm39) missense probably damaging 1.00
Z1177:Tmem259 UTSW 10 79,814,785 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16