Incidental Mutation 'IGL03237:Tmem165'
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 #IGL03237
Quality Score
Chromosomal Location76183880-76209245 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 76199509 bp
Amino Acid Change Tyrosine to Stop codon at position 5 (Y5*)
Ref Sequence ENSEMBL: ENSMUSP00000114647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031144] [ENSMUST00000130842]
Predicted Effect probably null
Transcript: ENSMUST00000031144
AA Change: Y124*
SMART Domains Protein: ENSMUSP00000031144
Gene: ENSMUSG00000029234
AA Change: Y124*

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 noncoding transcript
Transcript: ENSMUST00000119356
Predicted Effect probably null
Transcript: ENSMUST00000130842
AA Change: Y5*
SMART Domains Protein: ENSMUSP00000114647
Gene: ENSMUSG00000029234
AA Change: Y5*

Pfam:UPF0016 1 52 1.7e-12 PFAM
low complexity region 66 81 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136424
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A G 13: 91,781,269 Y405C probably benign Het
Adam19 A G 11: 46,137,556 K672R probably benign Het
Adamts7 C A 9: 90,188,664 P613T probably damaging Het
Adgrl1 G T 8: 83,929,683 probably null Het
Adrb1 A T 19: 56,723,368 N333Y probably damaging Het
AI314180 A T 4: 58,810,668 M1563K probably benign Het
Aqp7 C T 4: 41,034,884 V190M possibly damaging Het
Atg101 T C 15: 101,287,173 F59L probably damaging Het
Capn12 T C 7: 28,890,941 S638P probably damaging Het
Ccm2l T C 2: 153,066,002 probably benign Het
Cdc14a A T 3: 116,404,626 probably benign Het
Cdh7 A T 1: 110,138,307 K770N possibly damaging Het
Col23a1 A C 11: 51,567,919 E294D possibly damaging Het
Cped1 A T 6: 22,233,596 Y679F probably damaging Het
Ctu2 A G 8: 122,479,053 E180G probably benign Het
Cyp11b2 C T 15: 74,851,065 V495I probably benign Het
Efcab1 A G 16: 14,920,788 D161G probably damaging Het
Gabrg3 A T 7: 56,982,712 probably null Het
Hsd17b11 A G 5: 104,003,170 *233Q probably null Het
Klhl41 T C 2: 69,670,558 V121A possibly damaging Het
Kptn A T 7: 16,120,125 D56V probably damaging Het
L3mbtl4 T A 17: 68,777,861 I589N probably damaging Het
Lpl A T 8: 68,894,726 N177Y possibly damaging Het
Manba G A 3: 135,544,751 V380M probably damaging Het
Mecom A T 3: 29,956,499 probably benign Het
Mertk A G 2: 128,790,272 E707G probably damaging Het
Myo5a A T 9: 75,129,994 I160F probably damaging Het
Myo7a A T 7: 98,102,593 I81N probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nipal1 C T 5: 72,666,807 R76C probably damaging Het
Noc3l C T 19: 38,814,681 probably null Het
Nt5e A G 9: 88,355,734 D239G probably damaging Het
Olr1 A C 6: 129,502,154 W34G probably damaging Het
Plekhf1 A T 7: 38,221,375 N256K probably benign Het
Psen2 T C 1: 180,240,849 T80A possibly damaging Het
Psg27 A G 7: 18,560,492 I330T probably benign Het
Ranbp2 T C 10: 58,492,961 V2894A probably damaging Het
Sgcz A T 8: 37,563,178 D170E probably benign Het
Snrnp200 C T 2: 127,233,313 A1573V probably damaging Het
Steap3 C T 1: 120,243,790 G195D probably damaging Het
Tnpo1 C T 13: 98,863,840 E340K probably damaging Het
Vmn2r67 A T 7: 85,149,910 C530S probably damaging Het
Wdfy3 T A 5: 101,844,599 D3389V probably damaging Het
Zfp128 A C 7: 12,891,026 E440D probably benign Het
Other mutations in Tmem165
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01758:Tmem165 APN 5 76204163 missense probably damaging 1.00
R1743:Tmem165 UTSW 5 76207826 missense probably damaging 1.00
R2324:Tmem165 UTSW 5 76204824 unclassified probably benign
R7549:Tmem165 UTSW 5 76208568 missense possibly damaging 0.77
Posted On2016-08-02