Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01484:Tmem169'

88848

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem169

Ensembl Gene

ENSMUSG00000026188

Gene Name

transmembrane protein 169

Synonyms

A830020B06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL01484

Quality Score

Status

Chromosome

Chromosomal Location

72323554-72342263 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72340263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 231 (V231A)

Ref Sequence

ENSEMBL: ENSMUSP00000027380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027380] [ENSMUST00000141783]

AlphaFold

Q8BG50

Predicted Effect

probably damaging
Transcript: ENSMUST00000027380
AA Change: V231A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027380
Gene: ENSMUSG00000026188
AA Change: V231A

Domain	Start	End	E-Value	Type
low complexity region	21	31	N/A	INTRINSIC
Pfam:TMEM169	147	277	6.1e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141783

SMART Domains

Protein: ENSMUSP00000114990
Gene: ENSMUSG00000026188

Domain	Start	End	E-Value	Type
low complexity region	21	31	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd36	A	G	11: 5,579,006 (GRCm39)	H90R	possibly damaging	Het
Arsj	A	G	3: 126,158,685 (GRCm39)	D88G	probably damaging	Het
Clca4b	C	T	3: 144,633,996 (GRCm39)	V140I	probably benign	Het
Dagla	A	C	19: 10,225,884 (GRCm39)	L760R	possibly damaging	Het
Dnah1	T	C	14: 31,021,897 (GRCm39)	E1202G	probably damaging	Het
Hdac9	T	C	12: 34,487,164 (GRCm39)	H100R	probably damaging	Het
Hhip	T	C	8: 80,723,412 (GRCm39)	H414R	probably damaging	Het
Hk2	G	A	6: 82,713,711 (GRCm39)	T457M	probably damaging	Het
Iapp	A	G	6: 142,249,165 (GRCm39)	T73A	possibly damaging	Het
Ifit1	A	G	19: 34,626,243 (GRCm39)	N460D	probably damaging	Het
Itpa	T	C	2: 130,514,019 (GRCm39)	F77L	probably benign	Het
Knop1	T	C	7: 118,452,032 (GRCm39)	D229G	probably damaging	Het
Lrrc32	T	C	7: 98,143,442 (GRCm39)	I5T	probably damaging	Het
Myo7a	C	T	7: 97,734,629 (GRCm39)	V622M	probably damaging	Het
N4bp1	T	C	8: 87,571,400 (GRCm39)	E866G	probably damaging	Het
Or2t48	A	T	11: 58,420,222 (GRCm39)	W197R	probably benign	Het
Palmd	G	A	3: 116,746,794 (GRCm39)		probably benign	Het
Pcbp4	A	G	9: 106,337,848 (GRCm39)		probably null	Het
Pigf	T	C	17: 87,316,308 (GRCm39)	I157V	probably benign	Het
Pot1b	G	A	17: 56,002,160 (GRCm39)	T138M	possibly damaging	Het
Prl7a2	T	A	13: 27,843,191 (GRCm39)	D204V	probably damaging	Het
Rfc3	A	T	5: 151,566,401 (GRCm39)	D349E	probably benign	Het
Sarm1	A	T	11: 78,381,839 (GRCm39)	C215S	probably damaging	Het
Serpine1	T	C	5: 137,092,326 (GRCm39)		probably benign	Het
Strip1	A	G	3: 107,520,575 (GRCm39)	V825A	probably damaging	Het
Stx12	A	G	4: 132,611,673 (GRCm39)	S2P	probably damaging	Het
Sycp1	A	C	3: 102,823,183 (GRCm39)	S311R	probably benign	Het
Tfpi	A	T	2: 84,275,169 (GRCm39)	C139*	probably null	Het
Tmc5	T	A	7: 118,256,010 (GRCm39)	I695N	probably damaging	Het
Ttbk2	T	G	2: 120,570,314 (GRCm39)	S1211R	possibly damaging	Het
Ubr3	C	T	2: 69,851,888 (GRCm39)	R1855*	probably null	Het
Urb1	A	T	16: 90,574,448 (GRCm39)	S878T	probably benign	Het
Vmn1r174	T	A	7: 23,453,749 (GRCm39)	Y138*	probably null	Het
Zfp282	A	G	6: 47,867,054 (GRCm39)	N214D	possibly damaging	Het

Other mutations in Tmem169

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02264:Tmem169	APN	1	72,340,114 (GRCm39)	nonsense	probably null
R1416:Tmem169	UTSW	1	72,339,875 (GRCm39)	missense	probably damaging	1.00
R1463:Tmem169	UTSW	1	72,339,855 (GRCm39)	missense	probably benign	0.19
R2138:Tmem169	UTSW	1	72,340,155 (GRCm39)	missense	probably damaging	1.00
R4810:Tmem169	UTSW	1	72,337,311 (GRCm39)	missense	probably benign	0.05
R4833:Tmem169	UTSW	1	72,337,311 (GRCm39)	missense	probably benign	0.05
R7166:Tmem169	UTSW	1	72,340,229 (GRCm39)	missense	probably benign
R8503:Tmem169	UTSW	1	72,340,166 (GRCm39)	missense	probably damaging	1.00
X0027:Tmem169	UTSW	1	72,337,086 (GRCm39)	missense	probably benign
Z1177:Tmem169	UTSW	1	72,340,289 (GRCm39)	missense	probably damaging	0.98

Posted On

2013-11-18