Incidental Mutation 'IGL01758:Tmem165'
ID153481
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem165
Ensembl Gene ENSMUSG00000029234
Gene Nametransmembrane protein 165
SynonymspFT27, Tparl, Tpardl
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.301) question?
Stock #IGL01758
Quality Score
Status
Chromosome5
Chromosomal Location76183880-76209245 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76204163 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 164 (T164A)
Ref Sequence ENSEMBL: ENSMUSP00000031144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031144] [ENSMUST00000130842]
Predicted Effect probably damaging
Transcript: ENSMUST00000031144
AA Change: T164A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031144
Gene: ENSMUSG00000029234
AA Change: T164A

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
low complexity region 44 59 N/A INTRINSIC
Pfam:UPF0016 98 171 1.4e-25 PFAM
coiled coil region 184 211 N/A INTRINSIC
Pfam:UPF0016 237 311 4.6e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130842
AA Change: T45A

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114647
Gene: ENSMUSG00000029234
AA Change: T45A

DomainStartEndE-ValueType
Pfam:UPF0016 1 52 1.7e-12 PFAM
low complexity region 66 81 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153633
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 120,010,819 D860G possibly damaging Het
Acot7 T C 4: 152,217,793 C121R probably damaging Het
Adam19 A T 11: 46,112,924 H193L probably benign Het
AI661453 T A 17: 47,466,623 probably benign Het
Bod1l T C 5: 41,826,610 probably benign Het
Brd4 T C 17: 32,212,829 probably benign Het
Capn12 G A 7: 28,886,623 probably null Het
Cdh18 A G 15: 23,474,183 Q713R probably benign Het
Cfap52 A T 11: 67,953,580 L103Q possibly damaging Het
Dpy19l4 T A 4: 11,265,846 T475S probably damaging Het
Fat2 A T 11: 55,296,209 D1270E probably damaging Het
Hfm1 T C 5: 106,904,793 K275E probably damaging Het
Ift172 T C 5: 31,280,714 D426G probably benign Het
Mrc1 T C 2: 14,238,248 S62P probably damaging Het
Olfr275 G T 4: 52,825,468 E24* probably null Het
Olfr914 T A 9: 38,607,293 I276K probably damaging Het
Ptgs2 A T 1: 150,101,989 probably null Het
Rxfp1 T A 3: 79,652,216 I433F possibly damaging Het
Sbf1 C T 15: 89,303,215 probably benign Het
Serpinb13 T G 1: 107,000,754 F368C probably damaging Het
Slc9c1 T A 16: 45,541,461 S80R probably damaging Het
Spats2l G T 1: 57,879,556 V30L probably damaging Het
Stat1 A G 1: 52,136,921 E195G probably damaging Het
Tbx5 T A 5: 119,844,958 probably benign Het
Trim66 A T 7: 109,486,045 probably null Het
Trip10 T A 17: 57,261,409 V405E possibly damaging Het
Vmn2r92 T A 17: 18,152,013 C28* probably null Het
Wdr60 G A 12: 116,218,798 P728L possibly damaging Het
Zbtb8a C T 4: 129,357,847 C277Y probably damaging Het
Zfp638 T C 6: 83,979,526 F1705S probably damaging Het
Other mutations in Tmem165
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03237:Tmem165 APN 5 76199509 nonsense probably null
R1743:Tmem165 UTSW 5 76207826 missense probably damaging 1.00
R2324:Tmem165 UTSW 5 76204824 unclassified probably benign
Posted On2014-02-04