Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01758:Tmem165'

153481

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem165

Ensembl Gene

ENSMUSG00000029234

Gene Name

transmembrane protein 165

Synonyms

pFT27, Tparl, Tpardl

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.301) question?

Stock #

IGL01758

Quality Score

Status

Chromosome

Chromosomal Location

76331727-76357091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76352010 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

P52875

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,901,645 (GRCm39)	D860G	possibly damaging	Het
Acot7	T	C	4: 152,302,250 (GRCm39)	C121R	probably damaging	Het
Adam19	A	T	11: 46,003,751 (GRCm39)	H193L	probably benign	Het
AI661453	T	A	17: 47,777,548 (GRCm39)		probably benign	Het
Bod1l	T	C	5: 41,983,953 (GRCm39)		probably benign	Het
Brd4	T	C	17: 32,431,803 (GRCm39)		probably benign	Het
Capn12	G	A	7: 28,586,048 (GRCm39)		probably null	Het
Cdh18	A	G	15: 23,474,269 (GRCm39)	Q713R	probably benign	Het
Cfap52	A	T	11: 67,844,406 (GRCm39)	L103Q	possibly damaging	Het
Dpy19l4	T	A	4: 11,265,846 (GRCm39)	T475S	probably damaging	Het
Dync2i1	G	A	12: 116,182,418 (GRCm39)	P728L	possibly damaging	Het
Fat2	A	T	11: 55,187,035 (GRCm39)	D1270E	probably damaging	Het
Hfm1	T	C	5: 107,052,659 (GRCm39)	K275E	probably damaging	Het
Ift172	T	C	5: 31,438,058 (GRCm39)	D426G	probably benign	Het
Mrc1	T	C	2: 14,243,059 (GRCm39)	S62P	probably damaging	Het
Or13f5	G	T	4: 52,825,468 (GRCm39)	E24*	probably null	Het
Or8b50	T	A	9: 38,518,589 (GRCm39)	I276K	probably damaging	Het
Ptgs2	A	T	1: 149,977,740 (GRCm39)		probably null	Het
Rxfp1	T	A	3: 79,559,523 (GRCm39)	I433F	possibly damaging	Het
Sbf1	C	T	15: 89,187,418 (GRCm39)		probably benign	Het
Serpinb13	T	G	1: 106,928,484 (GRCm39)	F368C	probably damaging	Het
Slc9c1	T	A	16: 45,361,824 (GRCm39)	S80R	probably damaging	Het
Spats2l	G	T	1: 57,918,715 (GRCm39)	V30L	probably damaging	Het
Stat1	A	G	1: 52,176,080 (GRCm39)	E195G	probably damaging	Het
Tbx5	T	A	5: 119,983,023 (GRCm39)		probably benign	Het
Trim66	A	T	7: 109,085,252 (GRCm39)		probably null	Het
Trip10	T	A	17: 57,568,409 (GRCm39)	V405E	possibly damaging	Het
Vmn2r92	T	A	17: 18,372,275 (GRCm39)	C28*	probably null	Het
Zbtb8a	C	T	4: 129,251,640 (GRCm39)	C277Y	probably damaging	Het
Zfp638	T	C	6: 83,956,508 (GRCm39)	F1705S	probably damaging	Het

Other mutations in Tmem165

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03237:Tmem165	APN	5	76,347,356 (GRCm39)	nonsense	probably null
R1743:Tmem165	UTSW	5	76,355,673 (GRCm39)	missense	probably damaging	1.00
R2324:Tmem165	UTSW	5	76,352,671 (GRCm39)	unclassified	probably benign
R7549:Tmem165	UTSW	5	76,356,415 (GRCm39)	missense	possibly damaging	0.77

Posted On

2014-02-04