Incidental Mutation 'R2324:Tmem165'
ID 244842
Institutional Source Beutler Lab
Gene Symbol Tmem165
Ensembl Gene ENSMUSG00000029234
Gene Name transmembrane protein 165
Synonyms pFT27, Tparl, Tpardl
MMRRC Submission 040315-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.301) question?
Stock # R2324 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 76331727-76357091 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 76352671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031144] [ENSMUST00000130842]
AlphaFold P52875
Predicted Effect probably benign
Transcript: ENSMUST00000031144
SMART Domains Protein: ENSMUSP00000031144
Gene: ENSMUSG00000029234

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
SMART Domains Protein: ENSMUSP00000114647
Gene: ENSMUSG00000029234

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (33/33)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akna T C 4: 63,290,039 (GRCm39) D1223G possibly damaging Het
Ankrd42 C A 7: 92,273,186 (GRCm39) R147L probably damaging Het
Cdhr18 A T 14: 13,868,077 (GRCm38) I204N probably damaging Het
Cep152 T C 2: 125,405,382 (GRCm39) I1717V probably benign Het
Clca3a2 A G 3: 144,512,041 (GRCm39) probably null Het
Coa8 A G 12: 111,690,784 (GRCm39) E112G possibly damaging Het
Dnhd1 A T 7: 105,359,297 (GRCm39) H3544L probably damaging Het
Dpy19l4 T C 4: 11,276,857 (GRCm39) probably benign Het
Efcab8 A G 2: 153,625,729 (GRCm39) probably null Het
Esyt2 A G 12: 116,331,441 (GRCm39) N773S possibly damaging Het
Hectd4 G A 5: 121,453,500 (GRCm39) G613D probably damaging Het
Ints12 G A 3: 132,815,126 (GRCm39) M444I possibly damaging Het
Ints3 A G 3: 90,301,401 (GRCm39) L827P probably damaging Het
Irf9 T C 14: 55,843,367 (GRCm39) probably null Het
Lactb2 T C 1: 13,708,520 (GRCm39) D176G probably damaging Het
Lmntd2 A T 7: 140,790,701 (GRCm39) S516T possibly damaging Het
Lrp1 C A 10: 127,402,455 (GRCm39) A2239S possibly damaging Het
Lrrc56 A G 7: 140,785,476 (GRCm39) probably benign Het
Nfic A G 10: 81,241,921 (GRCm39) probably null Het
Notch3 G A 17: 32,369,108 (GRCm39) probably benign Het
Oas2 T C 5: 120,881,339 (GRCm39) K251E probably benign Het
Or5k15 T C 16: 58,710,503 (GRCm39) T27A probably benign Het
Pabpc4 T C 4: 123,191,571 (GRCm39) probably benign Het
Piwil4 C T 9: 14,648,204 (GRCm39) R125H possibly damaging Het
Rbsn A G 6: 92,170,947 (GRCm39) Y325H probably damaging Het
Rhox2e C A X: 36,712,516 (GRCm39) P69Q probably damaging Het
Skint6 T C 4: 112,729,654 (GRCm39) probably null Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Ttc13 A G 8: 125,405,796 (GRCm39) V499A probably damaging Het
Vax2 G T 6: 83,688,307 (GRCm39) R10L possibly damaging Het
Zfp988 A C 4: 147,417,242 (GRCm39) K559Q probably benign Het
Other mutations in Tmem165
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01758:Tmem165 APN 5 76,352,010 (GRCm39) missense probably damaging 1.00
IGL03237:Tmem165 APN 5 76,347,356 (GRCm39) nonsense probably null
R1743:Tmem165 UTSW 5 76,355,673 (GRCm39) missense probably damaging 1.00
R7549:Tmem165 UTSW 5 76,356,415 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- TCTTAAATGGGCCAGATGTTGAAAC -3'
(R):5'- AGCATGCAGAAGTCATGAGC -3'

Sequencing Primer
(F):5'- GCCAGATGTTGAAACTGGTAC -3'
(R):5'- TCATGAGCAGAAAAGTAAGCAAC -3'
Posted On 2014-10-30